-
1
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy
-
Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, et al. 1991. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). PNAS 88:6624-27
-
(1991)
PNAS
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
Jimenez, S.A.4
Weaver, E.J.5
-
2
-
-
84891834962
-
Mutations in CSPP1 lead to classical Joubert syndrome
-
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, et al. 2014. Mutations in CSPP1 lead to classical Joubert syndrome. Am. J. Hum. Genet. 94:80-86
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 80-86
-
-
Akizu, N.1
Silhavy, J.L.2
Rosti, R.O.3
Scott, E.4
Fenstermaker, A.G.5
-
4
-
-
84875496391
-
Short stature in childhood-challenges and choices
-
Allen DB, Cuttler L. 2013. Short stature in childhood-challenges and choices. N. Engl. J. Med. 368:1220-28
-
(2013)
N. Engl. J. Med
, vol.368
, pp. 1220-1228
-
-
Allen, D.B.1
Cuttler, L.2
-
5
-
-
84862992962
-
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
-
Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, et al. 2012. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat. Genet. 44:788-92
-
(2012)
Nat. Genet
, vol.44
, pp. 788-792
-
-
Arboleda, V.A.1
Lee, H.2
Parnaik, R.3
Fleming, A.4
Banerjee, A.5
-
6
-
-
0032726952
-
Perlecan is essential for cartilage and cephalic development
-
Arikawa-Hirasawa E, Watanabe H, Takami H, Hassell JR, Yamada Y. 1999. Perlecan is essential for cartilage and cephalic development. Nat. Genet. 23:354-58
-
(1999)
Nat. Genet
, vol.23
, pp. 354-358
-
-
Arikawa-Hirasawa, E.1
Watanabe, H.2
Takami, H.3
Hassell, J.R.4
Yamada, Y.5
-
7
-
-
0035068499
-
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
-
Arikawa-Hirasawa E, WilcoxWR, Le AH, SilvermanN, Govindraj P, et al. 2001. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat. Genet. 27:431-34
-
(2001)
Nat. Genet
, vol.27
, pp. 431-434
-
-
Arikawa-Hirasawa, E.1
Wilcox, W.R.2
Le, A.H.3
Silverman, N.4
Govindraj, P.5
-
8
-
-
84859506560
-
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
-
Asharani PV, Keupp K, Semler O, Wang W, Li Y, et al. 2012. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am. J. Hum. Genet. 90:661-74
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 661-674
-
-
Asharani, P.V.1
Keupp, K.2
Semler, O.3
Wang, W.4
Li, Y.5
-
9
-
-
79959492482
-
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
-
Baker S, Booth C, Fillman C, Shapiro M, Blair MP, et al. 2011. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am. J. Med. Genet. A 155A:1668-72
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, pp. 1668-1672
-
-
Baker, S.1
Booth, C.2
Fillman, C.3
Shapiro, M.4
Blair, M.P.5
-
11
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, et al. 2011. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12:745-55
-
(2011)
Nat. Rev. Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
-
12
-
-
79952534189
-
Regulation of chromatin by histonemodifications
-
Bannister AJ, Kouzarides T. 2011. Regulation of chromatin by histonemodifications. Cell Res. 21:381-95
-
(2011)
Cell Res
, vol.21
, pp. 381-395
-
-
Bannister, A.J.1
Kouzarides, T.2
-
13
-
-
84903774312
-
Hypomorphic PCNA mutation underlies a human DNA repair disorder
-
Baple EL, Chambers H, CrossHE, FawcettH,Nakazawa Y, et al. 2014. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J. Clin. Investig. 124:3137-46
-
(2014)
J. Clin. Investig
, vol.124
, pp. 3137-3146
-
-
Baple, E.L.1
Chambers, H.2
Cross, H.E.3
Fawcett, H.4
Nakazawa, Y.5
-
14
-
-
3042692632
-
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
-
Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, et al. 2004. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am. J. Hum. Genet. 75:27-34
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 27-34
-
-
Bartels, C.F.1
Bukulmez, H.2
Padayatti, P.3
Rhee, D.K.4
Van Ravenswaaij-Arts, C.5
-
15
-
-
84888433372
-
Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis
-
Basten SG,Giles RH. 2013. Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia 2:6
-
(2013)
Cilia
, vol.2
, pp. 6
-
-
Basten, S.G.1
Giles, R.H.2
-
16
-
-
84888353557
-
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
-
Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, et al. 2013. Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nat. Genet. 45:1479-82
-
(2013)
Nat. Genet
, vol.45
, pp. 1479-1482
-
-
Behjati, S.1
Tarpey, P.S.2
Presneau, N.3
Scheipl, S.4
Pillay, N.5
-
17
-
-
77952705182
-
Biology and pathology of Rho GTPase, PI-3 kinase-Akt, and MAP kinase signaling pathways in chondrocytes
-
Beier F, Loeser RF. 2010. Biology and pathology of Rho GTPase, PI-3 kinase-Akt, and MAP kinase signaling pathways in chondrocytes. J. Cell. Biochem. 110:573-80
-
(2010)
J. Cell. Biochem
, vol.110
, pp. 573-580
-
-
Beier, F.1
Loeser, R.F.2
-
18
-
-
84872323508
-
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia
-
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, et al. 2013. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am. J. Hum. Genet. 92:137-43
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 137-143
-
-
Below, J.E.1
Earl, D.L.2
Shively, K.M.3
McMillin, M.J.4
Smith, J.D.5
-
19
-
-
35848951163
-
Covalent modifications of histones during development and disease pathogenesis
-
Bhaumik SR, Smith E, Shilatifard A. 2007. Covalent modifications of histones during development and disease pathogenesis. Nat. Struct. Mol. Biol. 14:1008-16
-
(2007)
Nat. Struct. Mol. Biol
, vol.14
, pp. 1008-1016
-
-
Bhaumik, S.R.1
Smith, E.2
Shilatifard, A.3
-
20
-
-
79953198187
-
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
-
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, et al. 2011. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat. Genet. 43:356-59
-
(2011)
Nat. Genet
, vol.43
, pp. 356-359
-
-
Bicknell, L.S.1
Bongers, E.M.2
Leitch, A.3
Brown, S.4
Schoots, J.5
-
21
-
-
79953167422
-
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
-
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, et al. 2011. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat. Genet. 43:350-55
-
(2011)
Nat. Genet
, vol.43
, pp. 350-355
-
-
Bicknell, L.S.1
Walker, S.2
Klingseisen, A.3
Stiff, T.4
Leitch, A.5
-
22
-
-
33750390130
-
The challenges of Proteus syndrome: Diagnosis and management
-
Biesecker L. 2006. The challenges of Proteus syndrome: diagnosis and management. Eur. J. Hum. Genet. 14:1151-57
-
(2006)
Eur. J. Hum. Genet
, vol.14
, pp. 1151-1157
-
-
Biesecker, L.1
-
23
-
-
0027515099
-
A murine skeletal adaptation that significantly increases cortical bone mechanical properties Implications for human skeletal fragility
-
Bonadio J, Jepsen KJ, MansouraMK, Jaenisch R, Kuhn JL, Goldstein SA. 1993. A murine skeletal adaptation that significantly increases cortical bone mechanical properties. Implications for human skeletal fragility. J. Clin. Investig. 92:1697-705
-
(1993)
J. Clin. Investig
, vol.92
, pp. 1697-1705
-
-
Bonadio, J.1
Jepsen, K.J.2
Mansoura, M.K.3
Jaenisch, R.4
Kuhn, J.L.5
Goldstein, S.A.6
-
24
-
-
0035426051
-
Meier-Gorlin syndrome: Report of eight additional cases and review
-
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, et al. 2001. Meier-Gorlin syndrome: report of eight additional cases and review. Am. J. Med. Genet. 102:115-24
-
(2001)
Am. J. Med. Genet
, vol.102
, pp. 115-124
-
-
Bongers, E.M.1
Opitz, J.M.2
Fryer, A.3
Sarda, P.4
Hennekam, R.C.5
-
25
-
-
83455166668
-
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
-
Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, et al. 2011. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am. J. Hum. Genet. 89:767-72
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 767-772
-
-
Boyden, E.D.1
Campos-Xavier, A.B.2
Kalamajski, S.3
Cameron, T.L.4
Suarez, P.5
-
26
-
-
80955166295
-
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
-
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, et al. 2011. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 89:634-43
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 634-643
-
-
Bredrup, C.1
Saunier, S.2
Oud, M.M.3
Fiskerstrand, T.4
Hoischen, A.5
-
27
-
-
84895923641
-
XYLT1 mutations in Desbuquois dysplasia type
-
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, et al. 2014. XYLT1 mutations in Desbuquois dysplasia type 2 Am. J. Hum. Genet. 94:405-14
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 405-414
-
-
Bui, C.1
Huber, C.2
Tuysuz, B.3
Alanay, Y.4
Bole-Feysot, C.5
-
28
-
-
84862803991
-
Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome
-
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, et al. 2012. Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome. Am. J.Hum.Genet. 90:282-89
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 282-289
-
-
Campeau, P.M.1
Kim, J.C.2
Lu, J.T.3
Schwartzentruber, J.A.4
Abdul-Rahman, O.A.5
-
29
-
-
84877577668
-
Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
-
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, et al. 2013. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am. J. Hum. Genet. 92:781-91
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 781-791
-
-
Campeau, P.M.1
Lenk, G.M.2
Lu, J.T.3
Bae, Y.4
Burrage, L.5
-
30
-
-
34250708389
-
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity
-
Caux F, Plauchu H, Chibon F, Faivre L, Fain O, et al. 2007. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. Eur. J. Hum. Genet. 15:767-73
-
(2007)
Eur. J. Hum. Genet
, vol.15
, pp. 767-773
-
-
Caux, F.1
Plauchu, H.2
Chibon, F.3
Faivre, L.4
Fain, O.5
-
32
-
-
84864946186
-
A single recurrent mutation in the 5-UTR of IFITM5 causes osteogenesis imperfecta type v
-
Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, et al. 2012. A single recurrent mutation in the 5-UTR of IFITM5 causes osteogenesis imperfecta type V. Am. J. Hum. Genet. 91:343-48
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 343-348
-
-
Cho, T.J.1
Lee, K.E.2
Lee, S.K.3
Song, S.J.4
Kim, K.J.5
-
33
-
-
80955155637
-
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
-
Clayton-Smith J,O'Sullivan J, Daly S, Bhaskar S,Day R, et al. 2011. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am. J. Hum. Genet. 89:675-81
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 675-681
-
-
Clayton-Smith, J.1
O'Sullivan, J.2
Daly, S.3
Bhaskar, S.4
Day, R.5
-
34
-
-
0030725244
-
Feingold syndrome: Report of a new family and review
-
Courtens W, Levi S, Verbelen F, Verloes A, Vamos E. 1997. Feingold syndrome: report of a new family and review. Am. J. Med. Genet. 73:55-60
-
(1997)
Am. J. Med. Genet
, vol.73
, pp. 55-60
-
-
Courtens, W.1
Levi, S.2
Verbelen, F.3
Verloes, A.4
Vamos, E.5
-
35
-
-
84868623622
-
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein
-
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, et al. 2012. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J. Clin. Endocrinol. Metab. 97:E2140-51
-
(2012)
J. Clin. Endocrinol. Metab
, vol.97
, pp. E2140-E2151
-
-
Dauber, A.1
Lafranchi, S.H.2
Maliga, Z.3
Lui, J.C.4
Moon, J.E.5
-
36
-
-
79952192021
-
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
-
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, et al. 2011. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat. Genet. 43:189-96
-
(2011)
Nat. Genet
, vol.43
, pp. 189-196
-
-
Davis, E.E.1
Zhang, Q.2
Liu, Q.3
Diplas, B.H.4
Davey, L.M.5
-
37
-
-
84862820018
-
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
-
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, et al. 2012. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur. J. Hum. Genet. 20:598-606
-
(2012)
Eur. J. Hum. Genet
, vol.20
, pp. 598-606
-
-
De Munnik, S.A.1
Bicknell, L.S.2
Aftimos, S.3
Al-Aama, J.Y.4
Van Bever, Y.5
-
38
-
-
80053385922
-
Germline deletion of the miR-17~92 cluster causes skeletal and growth defects in humans
-
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, et al. 2011. Germline deletion of the miR-17~92 cluster causes skeletal and growth defects in humans. Nat. Genet. 43:1026-30
-
(2011)
Nat. Genet
, vol.43
, pp. 1026-1030
-
-
De Pontual, L.1
Yao, E.2
Callier, P.3
Faivre, L.4
Drouin, V.5
-
39
-
-
0029917507
-
Fibroblast growth factor receptor 3 is a negative regulator of bone growth
-
Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P. 1996. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911-21
-
(1996)
Cell
, vol.84
, pp. 911-921
-
-
Deng, C.1
Wynshaw-Boris, A.2
Zhou, F.3
Kuo, A.4
Leder, P.5
-
40
-
-
0011246954
-
Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the proα2(I) collagen gene in a patient with osteogenesis imperfecta
-
Dickson LA, Pihlajaniemi T, Deak S, Pope FM, Nicholls A, et al. 1984. Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the proα2(I) collagen gene in a patient with osteogenesis imperfecta. PNAS 81:4524-28
-
(1984)
PNAS
, vol.81
, pp. 4524-4528
-
-
Dickson, L.A.1
Pihlajaniemi, T.2
Deak, S.3
Pope, F.M.4
Nicholls, A.5
-
41
-
-
53149100532
-
Fetal skeletal dysplasia: An approach to diagnosis with illustrative cases
-
Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. 2008. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 28:1061-77
-
(2008)
Radiographics
, vol.28
, pp. 1061-1077
-
-
Dighe, M.1
Fligner, C.2
Cheng, E.3
Warren, B.4
Dubinsky, T.5
-
42
-
-
80051501226
-
Disruption of a ciliary B9 protein complex causes Meckel syndrome
-
Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, et al. 2011. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. 89:94-110
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 94-110
-
-
Dowdle, W.E.1
Robinson, J.F.2
Kneist, A.3
Sirerol-Piquer, M.S.4
Frints, S.G.5
-
43
-
-
0030678549
-
Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation
-
Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G. 1997. Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell 89:747-54
-
(1997)
Cell
, vol.89
, pp. 747-754
-
-
Ducy, P.1
Zhang, R.2
Geoffroy, V.3
Ridall, A.L.4
Karsenty, G.5
-
44
-
-
79953819024
-
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
-
Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, et al. 2011. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 332:240-43
-
(2011)
Science
, vol.332
, pp. 240-243
-
-
Edery, P.1
Marcaillou, C.2
Sahbatou, M.3
Labalme, A.4
Chastang, J.5
-
45
-
-
84891830795
-
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects
-
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, et al. 2014. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. Am. J. Hum. Genet. 94:120-28
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 120-128
-
-
Favaro, F.P.1
Alvizi, L.2
Zechi-Ceide, R.M.3
Bertola, D.4
Felix, T.M.5
-
46
-
-
0031002838
-
Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay
-
FeingoldM,Hall BD, Lacassie Y,Martinez-Frias ML. 1997. Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Am. J. Med. Genet. 69:245-49
-
(1997)
Am. J. Med. Genet
, vol.69
, pp. 245-249
-
-
Feingold, M.1
Hall, B.D.2
Lacassie, Y.3
Martinez-Frias, M.L.4
-
47
-
-
34548081463
-
Inactivation of Pten in osteo-chondroprogenitor cells leads to epiphyseal growth plate abnormalities and skeletal overgrowth
-
Ford-Hutchinson AF, Ali Z, Lines SE, Hallgrimsson B, Boyd SK, Jirik FR. 2007. Inactivation of Pten in osteo-chondroprogenitor cells leads to epiphyseal growth plate abnormalities and skeletal overgrowth. J. Bone Miner. Res. 22:1245-59
-
(2007)
J. Bone Miner. Res
, vol.22
, pp. 1245-1259
-
-
Ford-Hutchinson, A.F.1
Ali, Z.2
Lines, S.E.3
Hallgrimsson, B.4
Boyd, S.K.5
Jirik, F.R.6
-
48
-
-
0023464293
-
The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen
-
Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, et al. 1987. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1:293-96
-
(1987)
Genomics
, vol.1
, pp. 293-296
-
-
Francomano, C.A.1
Liberfarb, R.M.2
Hirose, T.3
Maumenee, I.H.4
Streeten, E.A.5
-
49
-
-
0028300064
-
Localization of the achondroplasia gene to the distal 2 5 Mb of human chromosome 4p
-
Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, et al. 1994. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum. Mol. Genet. 3:787-92
-
(1994)
Hum. Mol. Genet
, vol.3
, pp. 787-792
-
-
Francomano, C.A.1
Ortiz De Luna, R.I.2
Hefferon, T.W.3
Bellus, G.A.4
Turner, C.E.5
-
50
-
-
84872171489
-
Cell cycle regulation by the NEK family of protein kinases
-
Fry AM, O'Regan L, Sabir SR, Bayliss R. 2012. Cell cycle regulation by the NEK family of protein kinases. J. Cell Sci. 125:4423-33
-
(2012)
J. Cell Sci
, vol.125
, pp. 4423-4433
-
-
Fry, A.M.1
O'Regan, L.2
Sabir, S.R.3
Bayliss, R.4
-
51
-
-
79751515852
-
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2
-
Gao B, Song H, Bishop K, Elliot G, Garrett L, et al. 2011. Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2. Dev. Cell 20:163-76
-
(2011)
Dev. Cell
, vol.20
, pp. 163-176
-
-
Gao, B.1
Song, H.2
Bishop, K.3
Elliot, G.4
Garrett, L.5
-
52
-
-
84924259368
-
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
-
Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, et al. 2015. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am. J. Hum. Genet. 96:432-39
-
(2015)
Am. J. Hum. Genet
, vol.96
, pp. 432-439
-
-
Garbes, L.1
Kim, K.2
Riess, A.3
Hoyer-Kuhn, H.4
Beleggia, F.5
-
53
-
-
84884676713
-
Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice
-
Garcia S, Dirat B, Tognacci T, Rochet N, Mouska X, et al. 2013. Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. Sci. Transl. Med. 5:203ra124
-
(2013)
Sci. Transl. Med
, vol.5
, pp. 203ra124
-
-
Garcia, S.1
Dirat, B.2
Tognacci, T.3
Rochet, N.4
Mouska, X.5
-
54
-
-
84871543116
-
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type
-
Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, et al. 2013. A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. Hum. Mol. Genet. 22:345-57
-
(2013)
Hum. Mol. Genet
, vol.22
, pp. 345-357
-
-
Geister, K.A.1
Brinkmeier, M.L.2
Hsieh, M.3
Faust, S.M.4
Karolyi, I.J.5
-
55
-
-
79953760198
-
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
-
Glazov EA, Zankl A, Donskoi M, Kenna TJ, Thomas GP, et al. 2011. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLOS Genet. 7:e1002027
-
(2011)
PLOS Genet
, vol.7
, pp. e1002027
-
-
Glazov, E.A.1
Zankl, A.2
Donskoi, M.3
Kenna, T.J.4
Thomas, G.P.5
-
56
-
-
77951101203
-
The primary cilium: A signalling centre during vertebrate development
-
Goetz SC, Anderson KV. 2010. The primary cilium: a signalling centre during vertebrate development. Nat. Rev. Genet. 11:331-44
-
(2010)
Nat. Rev. Genet
, vol.11
, pp. 331-344
-
-
Goetz, S.C.1
Anderson, K.V.2
-
57
-
-
84856922362
-
Paternal age effect mutations and selfish spermatogonial selection: Causes and consequences for human disease
-
Goriely A,Wilkie AO. 2012. Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am. J. Hum. Genet. 90:175-200
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 175-200
-
-
Goriely, A.1
Wilkie, A.O.2
-
58
-
-
38649092988
-
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
-
Griffith E,Walker S, Martin CA, Vagnarelli P, Stiff T, et al. 2008. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat. Genet. 40:232-36
-
(2008)
Nat. Genet
, vol.40
, pp. 232-236
-
-
Griffith, E.1
Walker, S.2
Martin, C.A.3
Vagnarelli, P.4
Stiff, T.5
-
59
-
-
84889083059
-
Identification of a ninein (NIN)mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype
-
Grosch M, Grüner B, Spranger S, St ützA,RauschT, et al. 2013. Identification of a ninein (NIN)mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biol. 32:387-92
-
(2013)
Matrix Biol
, vol.32
, pp. 387-392
-
-
Grosch, M.1
Grüner, B.2
Spranger, S.3
St Ütz, A.4
Rausch, T.5
-
60
-
-
0000040232
-
Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH Research Society
-
Growth Horm. Res. Soc.
-
Growth Horm. Res. Soc. 2000. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. J. Clin. Endocrinol. Metab. 85:3990-93
-
(2000)
J. Clin. Endocrinol. Metab
, vol.85
, pp. 3990-3993
-
-
-
61
-
-
79953203480
-
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
-
Guernsey DL,MatsuokaM, JiangH,Evans S, MacgillivrayC, et al. 2011. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat. Genet. 43:360-64
-
(2011)
Nat. Genet
, vol.43
, pp. 360-364
-
-
Guernsey, D.L.1
Matsuoka, M.2
Jiang, H.3
Evans, S.4
MacGillivray, C.5
-
62
-
-
84890219086
-
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
-
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, et al. 2013. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am. J. Hum. Genet. 93:915-25
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 915-925
-
-
Halbritter, J.1
Bizet, A.A.2
Schmidts, M.3
Porath, J.D.4
Braun, D.A.5
-
63
-
-
0023319298
-
Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin
-
Happle R. 1987. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J. Am. Acad. Dermatol. 16:899-906
-
(1987)
J. Am. Acad. Dermatol
, vol.16
, pp. 899-906
-
-
Happle, R.1
-
64
-
-
79953824569
-
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD i
-
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, et al. 2011. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 332:238-40
-
(2011)
Science
, vol.332
, pp. 238-240
-
-
He, H.1
Liyanarachchi, S.2
Akagi, K.3
Nagy, R.4
Li, J.5
-
65
-
-
59849095061
-
Orc1 controls centriole and centrosome copy number in human cells
-
Hemerly AS, Prasanth SG, Siddiqui K, Stillman B. 2009. Orc1 controls centriole and centrosome copy number in human cells. Science 323:789-93
-
(2009)
Science
, vol.323
, pp. 789-793
-
-
Hemerly, A.S.1
Prasanth, S.G.2
Siddiqui, K.3
Stillman, B.4
-
66
-
-
79551533196
-
Generation of hyaline cartilaginous tissue frommouse adult dermal fibroblast culture by defined factors
-
Hiramatsu K, Sasagawa S, Outani H, Nakagawa K, Yoshikawa H, Tsumaki N. 2011. Generation of hyaline cartilaginous tissue frommouse adult dermal fibroblast culture by defined factors. J. Clin. Investig. 121:640-57
-
(2011)
J. Clin. Investig
, vol.121
, pp. 640-657
-
-
Hiramatsu, K.1
Sasagawa, S.2
Outani, H.3
Nakagawa, K.4
Yoshikawa, H.5
Tsumaki, N.6
-
67
-
-
84887212533
-
C/EBPβpromotes transition from proliferation to hypertrophic differentiation of chondrocytes through transactivation of p57Kip2
-
Hirata M, Kugimiya F, Fukai A, Ohba S, Kawamura N, et al. 2009. C/EBPβpromotes transition from proliferation to hypertrophic differentiation of chondrocytes through transactivation of p57Kip2. PLOS ONE 4:e4543
-
(2009)
PLOS ONE
, vol.4
, pp. e4543
-
-
Hirata, M.1
Kugimiya, F.2
Fukai, A.3
Ohba, S.4
Kawamura, N.5
-
68
-
-
84891798732
-
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy
-
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, et al. 2014. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am. J. Hum. Genet. 94:105-12
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 105-112
-
-
Hoover-Fong, J.1
Sobreira, N.2
Jurgens, J.3
Modaff, P.4
Blout, C.5
-
70
-
-
84865092757
-
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication
-
Hossain M, Stillman B. 2012. Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. Genes Dev. 26:1797-810
-
(2012)
Genes Dev
, vol.26
, pp. 1797-1810
-
-
Hossain, M.1
Stillman, B.2
-
71
-
-
65749093920
-
Conditional loss of PTEN leads to skeletal abnormalities and lipoma formation
-
Hsieh SC, Chen NT, Lo SH. 2009. Conditional loss of PTEN leads to skeletal abnormalities and lipoma formation. Mol. Carcinog. 48:545-52
-
(2009)
Mol. Carcinog
, vol.48
, pp. 545-552
-
-
Hsieh, S.C.1
Chen, N.T.2
Lo, S.H.3
-
73
-
-
84872303242
-
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
-
Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, et al. 2013. Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am. J. Hum. Genet. 92:144-49
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 144-149
-
-
Huber, C.1
Faqeih, E.A.2
Bartholdi, D.3
Bole-Feysot, C.4
Borochowitz, Z.5
-
74
-
-
84890206285
-
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
-
Huber C,Wu S, Kim AS, Sigaudy S, Sarukhanov A, et al. 2013. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am. J. Hum. Genet. 93:926-31
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 926-931
-
-
Huber, C.1
Wu, S.2
Kim, A.S.3
Sigaudy, S.4
Sarukhanov, A.5
-
75
-
-
79955383070
-
Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways
-
Ikegami D, Akiyama H, Suzuki A, Nakamura T, Nakano T, et al. 2011. Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways. Development 138:1507-19
-
(2011)
Development
, vol.138
, pp. 1507-1519
-
-
Ikegami, D.1
Akiyama, H.2
Suzuki, A.3
Nakamura, T.4
Nakano, T.5
-
77
-
-
84870849268
-
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia
-
Jin M, Yu Y, Qi H, Xie Y, Su N, et al. 2012. A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. Hum. Mol. Genet. 21:5443-55
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 5443-5455
-
-
Jin, M.1
Yu, Y.2
Qi, H.3
Xie, Y.4
Su, N.5
-
78
-
-
84856332741
-
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model
-
Jonquoy A, Mugniery E, Benoist-Lasselin C, Kaci N, Le Corre L, et al. 2012. A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model. Hum. Mol. Genet. 21:841-51
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 841-851
-
-
Jonquoy, A.1
Mugniery, E.2
Benoist-Lasselin, C.3
Kaci, N.4
Le Corre, L.5
-
79
-
-
78651248502
-
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
-
Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, et al. 2011. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat. Genet. 43:23-26
-
(2011)
Nat. Genet
, vol.43
, pp. 23-26
-
-
Kalay, E.1
Yigit, G.2
Aslan, Y.3
Brown, K.E.4
Pohl, E.5
-
80
-
-
0028057743
-
Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene
-
Karaplis AC, Luz A, Glowacki J, Bronson RT, Tybulewicz VL, et al. 1994. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev. 8:277-89
-
(1994)
Genes Dev
, vol.8
, pp. 277-289
-
-
Karaplis, A.C.1
Luz, A.2
Glowacki, J.3
Bronson, R.T.4
Tybulewicz, V.L.5
-
82
-
-
46749134835
-
Phosphorylation of GSK-3β by cGMP-dependent protein kinase II promotes hypertrophic differentiation of murine chondrocytes
-
Kawasaki Y, Kugimiya F, Chikuda H, Kamekura S, Ikeda T, et al. 2008. Phosphorylation of GSK-3β by cGMP-dependent protein kinase II promotes hypertrophic differentiation of murine chondrocytes. J. Clin. Investig. 118:2506-15
-
(2008)
J. Clin. Investig
, vol.118
, pp. 2506-2515
-
-
Kawasaki, Y.1
Kugimiya, F.2
Chikuda, H.3
Kamekura, S.4
Ikeda, T.5
-
83
-
-
84875924767
-
Mutations inWNT1cause different forms of bone fragility
-
Keupp K, Beleggia F,Kayserili H, Barnes AM, Steiner M, et al. 2013. Mutations inWNT1cause different forms of bone fragility. Am. J. Hum. Genet. 92:565-74
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 565-574
-
-
Keupp, K.1
Beleggia, F.2
Kayserili, H.3
Barnes, A.M.4
Steiner, M.5
-
84
-
-
80053642194
-
Mechanisms and pathways of growth failure in primordial dwarfism
-
Klingseisen A, Jackson AP. 2011. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 25:2011-24
-
(2011)
Genes Dev
, vol.25
, pp. 2011-2024
-
-
Klingseisen, A.1
Jackson, A.P.2
-
85
-
-
78649439321
-
Asymmetric cell division: Recent developments and their implications for tumour biology
-
Knoblich JA. 2010. Asymmetric cell division: recent developments and their implications for tumour biology. Nat. Rev. Mol. Cell Biol. 11:849-60
-
(2010)
Nat. Rev. Mol. Cell Biol
, vol.11
, pp. 849-860
-
-
Knoblich, J.A.1
-
86
-
-
77953939261
-
The skeletal dysplasias
-
Krakow D, Rimoin DL. 2010. The skeletal dysplasias. Genet Med. 12:327-41
-
(2010)
Genet Med
, vol.12
, pp. 327-341
-
-
Krakow, D.1
Rimoin, D.L.2
-
87
-
-
27944483696
-
Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis
-
Krejci P, Masri B, Fontaine V,Mekikian PB,WeisM, et al. 2005. Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis. J. Cell Sci. 118:5089-100
-
(2005)
J. Cell Sci
, vol.118
, pp. 5089-5100
-
-
Krejci, P.1
Masri, B.2
Fontaine, V.3
Mekikian, P.B.4
Weis, M.5
-
88
-
-
0038687536
-
Developmental regulation of the growth plate
-
Kronenberg HM. 2003. Developmental regulation of the growth plate. Nature 423:332-36
-
(2003)
Nature
, vol.423
, pp. 332-336
-
-
Kronenberg, H.M.1
-
89
-
-
33744764558
-
PTHrP and skeletal development
-
Kronenberg HM. 2006. PTHrP and skeletal development. Ann. N.Y. Acad. Sci. 1068:1-13
-
(2006)
Ann. N. Y. Acad. Sci
, vol.1068
, pp. 1-13
-
-
Kronenberg, H.M.1
-
90
-
-
84862818911
-
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome
-
Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, et al. 2012. The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. Nature 484:115-19
-
(2012)
Nature
, vol.484
, pp. 115-119
-
-
Kuo, A.J.1
Song, J.2
Cheung, P.3
Ishibe-Murakami, S.4
Yamazoe, S.5
-
91
-
-
0026593304
-
Collagen, genes and the skeletal dysplasias on the edge of a new era: A review and update
-
Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL. 1992. Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. Eur. J. Radiol. 14:1-10
-
(1992)
Eur. J. Radiol
, vol.14
, pp. 1-10
-
-
Lachman, R.S.1
Tiller, G.E.2
Graham, J.M.3
Rimoin, D.L.4
-
92
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
Lango AllenH, Estrada K, LettreG, Berndt SI, Weedon MN, et al. 2010. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467:832-38
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango, A.H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
-
93
-
-
84655163944
-
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
-
Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, et al. 2012. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat. Genet. 44:85-88
-
(2012)
Nat. Genet
, vol.44
, pp. 85-88
-
-
Le Goff, C.1
Mahaut, C.2
Abhyankar, A.3
Le Goff, W.4
Serre, V.5
-
94
-
-
80051549516
-
Mutations in the TGFβbindingprotein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
-
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, et al. 2011. Mutations in the TGFβbindingprotein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am. J. Hum. Genet. 89:7-14
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 7-14
-
-
Le Goff, C.1
Mahaut, C.2
Wang, L.W.3
Allali, S.4
Abhyankar, A.5
-
95
-
-
0028365599
-
A gene for achondroplasiahypochondroplasia maps to chromosome 4p
-
Le MerrerM, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, et al. 1994. A gene for achondroplasiahypochondroplasia maps to chromosome 4p. Nat. Genet. 6:318-21
-
(1994)
Nat. Genet
, vol.6
, pp. 318-321
-
-
Le Merrer, M.1
Rousseau, F.2
Legeai-Mallet, L.3
Landais, J.C.4
Pelet, A.5
-
96
-
-
0030927622
-
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
-
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, et al. 1997. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat. Genet. 16:307-10
-
(1997)
Nat. Genet
, vol.16
, pp. 307-310
-
-
Lee, B.1
Thirunavukkarasu, K.2
Zhou, L.3
Pastore, L.4
Baldini, A.5
-
97
-
-
0024341253
-
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
-
Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D. 1989. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 244:978-80
-
(1989)
Science
, vol.244
, pp. 978-980
-
-
Lee, B.1
Vissing, H.2
Ramirez, F.3
Rogers, D.4
Rimoin, D.5
-
98
-
-
84859512885
-
Exome sequencing identifies PDE4D mutations in acrodysostosis
-
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, et al. 2012. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am. J. Hum. Genet. 90:746-51
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 746-751
-
-
Lee, H.1
Graham, J.M.2
Rimoin, D.L.3
Lachman, R.S.4
Krejci, P.5
-
99
-
-
67449152618
-
Noncanonical frizzled signaling regulates cell polarity of growth plate chondrocytes
-
Li Y, Dudley AT. 2009. Noncanonical frizzled signaling regulates cell polarity of growth plate chondrocytes. Development 136:1083-92
-
(2009)
Development
, vol.136
, pp. 1083-1092
-
-
Li, Y.1
Dudley, A.T.2
-
100
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
-
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, et al. 2011. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N. Engl. J. Med. 365:611-19
-
(2011)
N. Engl. J. Med
, vol.365
, pp. 611-619
-
-
Lindhurst, M.J.1
Sapp, J.C.2
Teer, J.K.3
Johnston, J.J.4
Finn, E.M.5
-
101
-
-
79958182720
-
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance
-
Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, et al. 2011. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N. Engl. J. Med. 364:2218-26
-
(2011)
N. Engl. J. Med
, vol.364
, pp. 2218-2226
-
-
Linglart, A.1
Menguy, C.2
Couvineau, A.3
Auzan, C.4
Gunes, Y.5
-
102
-
-
84870858575
-
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia
-
Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, et al. 2012. Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. Am. J. Hum. Genet. 91:1108-14
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 1108-1114
-
-
Lorget, F.1
Kaci, N.2
Peng, J.3
Benoist-Lasselin, C.4
Mugniery, E.5
-
103
-
-
84881524407
-
New genes in bone development: What's new in osteogenesis imperfecta
-
Marini JC, Blissett AR. 2013. New genes in bone development: what's new in osteogenesis imperfecta. J. Clin. Endocrinol. Metab. 98:3095-103
-
(2013)
J. Clin. Endocrinol. Metab
, vol.98
, pp. 3095-3103
-
-
Marini, J.C.1
Blissett, A.R.2
-
104
-
-
84927581261
-
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
-
Martin CA, Ahmad I, Klingseisen A,Hussain MS, Bicknell LS, et al. 2014. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat. Genet. 46:1283-92
-
(2014)
Nat. Genet
, vol.46
, pp. 1283-1292
-
-
Martin, C.A.1
Ahmad, I.2
Klingseisen, A.3
Hussain, M.S.4
Bicknell, L.S.5
-
105
-
-
84857790992
-
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
-
Martinez-Glez V, Valencia M, Caparros-Martin JA, Aglan M, Temtamy S, et al. 2012. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum. Mutat. 33:343-50
-
(2012)
Hum. Mutat
, vol.33
, pp. 343-350
-
-
Martinez-Glez, V.1
Valencia, M.2
Caparros-Martin, J.A.3
Aglan, M.4
Temtamy, S.5
-
106
-
-
84891886951
-
Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia
-
Matsushita M, Kitoh H, Ohkawara B, Mishima K, Kaneko H, et al. 2013. Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia. PLOS ONE 8:e81569
-
(2013)
PLOS ONE
, vol.8
, pp. e81569
-
-
Matsushita, M.1
Kitoh, H.2
Ohkawara, B.3
Mishima, K.4
Kaneko, H.5
-
107
-
-
84883766759
-
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
-
McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, et al. 2013. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am. J. Hum. Genet. 93:515-23
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 515-523
-
-
McInerney-Leo, A.M.1
Schmidts, M.2
Cortes, C.R.3
Leo, P.J.4
Gener, B.5
-
108
-
-
84901599269
-
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
-
Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, et al. 2014. The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. PLOS Genet. 10:e1004311
-
(2014)
PLOS Genet
, vol.10
, pp. e1004311
-
-
Mehawej, C.1
Delahodde, A.2
Legeai-Mallet, L.3
Delague, V.4
Kaci, N.5
-
109
-
-
84858075039
-
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling
-
Merrill AE, Sarukhanov A, Krejci P, Idoni B, CamachoN, et al. 2012. Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am. J. Hum. Genet. 90:550-57
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 550-557
-
-
Merrill, A.E.1
Sarukhanov, A.2
Krejci, P.3
Idoni, B.4
Camacho, N.5
-
110
-
-
72849144434
-
Sequencing technologies\-The next generation
-
Metzker ML. 2010. Sequencing technologies\-The next generation. Nat. Rev. Genet. 11:31-46
-
(2010)
Nat. Rev. Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
111
-
-
84859514780
-
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
-
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, et al. 2012. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am. J. Hum. Genet. 90:740-45
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 740-745
-
-
Michot, C.1
Le Goff, C.2
Goldenberg, A.3
Abhyankar, A.4
Klein, C.5
-
112
-
-
79953718363
-
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis
-
Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, et al. 2011. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am. J. Hum. Genet. 88:508-15
-
(2011)
Am. J. Hum. Genet
, vol.88
, pp. 508-515
-
-
Mill, P.1
Lockhart, P.J.2
Fitzpatrick, E.3
Mountford, H.S.4
Hall, E.A.5
-
113
-
-
83455166675
-
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
-
Min BJ, Kim N, Chung T, Kim OH, Nishimura G, et al. 2011. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. Am. J. Hum. Genet. 89:760-66
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 760-766
-
-
Min, B.J.1
Kim, N.2
Chung, T.3
Kim, O.H.4
Nishimura, G.5
-
114
-
-
84904420531
-
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
-
Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, et al. 2014. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum. Genet. 133:1023-39
-
(2014)
Hum. Genet
, vol.133
, pp. 1023-1039
-
-
Mirzaa, G.M.1
Vitre, B.2
Carpenter, G.3
Abramowicz, I.4
Gleeson, J.G.5
-
115
-
-
0026628060
-
A targeted mutation reveals a role for N-myc in branching morphogenesis in the embryonic mouse lung
-
Moens CB, Auerbach AB, Conlon RA, Joyner AL, Rossant J. 1992. A targeted mutation reveals a role for N-myc in branching morphogenesis in the embryonic mouse lung. Genes Dev. 6:691-704
-
(1992)
Genes Dev
, vol.6
, pp. 691-704
-
-
Moens, C.B.1
Auerbach, A.B.2
Conlon, R.A.3
Joyner, A.L.4
Rossant, J.5
-
116
-
-
84872283216
-
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly
-
Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. 2013. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am. J.Hum.Genet. 92:157-61
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 157-161
-
-
Mohamed, J.Y.1
Faqeih, E.2
Alsiddiky, A.3
Alshammari, M.J.4
Ibrahim, N.A.5
Alkuraya, F.S.6
-
117
-
-
84893680246
-
Early initiation of enzyme replacement therapy for the mucopolysaccharidoses
-
Muenzer J. 2014. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol. Genet. Metab. 111:63-72
-
(2014)
Mol. Genet. Metab
, vol.111
, pp. 63-72
-
-
Muenzer, J.1
-
118
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, et al. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-79
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
-
119
-
-
1042289662
-
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype
-
Murakami S, Balmes G, McKinney S, Zhang Z, Givol D, de Crombrugghe B. 2004. Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. Genes Dev. 18:290-305
-
(2004)
Genes Dev
, vol.18
, pp. 290-305
-
-
Murakami, S.1
Balmes, G.2
McKinney, S.3
Zhang, Z.4
Givol, D.5
De Crombrugghe, B.6
-
120
-
-
84924267433
-
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
-
Murray JE, van der Burg M, IJspeertH,Carroll P,WuQ, et al. 2015. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am. J. Hum. Genet. 96:412-24
-
(2015)
Am. J. Hum. Genet
, vol.96
, pp. 412-424
-
-
Murray, J.E.1
Van Der Burg, M.2
IJspeert, H.3
Carroll, P.4
Wu, Q.5
-
121
-
-
0032554783
-
Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles
-
Nagy A, Moens C, Ivanyi E, Pawling J, Gertsenstein M, et al. 1998. Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles. Curr. Biol. 8:661-64
-
(1998)
Curr. Biol
, vol.8
, pp. 661-664
-
-
Nagy, A.1
Moens, C.2
Ivanyi, E.3
Pawling, J.4
Gertsenstein, M.5
-
122
-
-
0033662239
-
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia
-
Nicole S, Davoine CS, TopalogluH, Cattolico L, BarralD, et al. 2000. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat. Genet. 26:480-83
-
(2000)
Nat. Genet
, vol.26
, pp. 480-483
-
-
Nicole, S.1
Davoine, C.S.2
Topaloglu, H.3
Cattolico, L.4
Barral, D.5
-
123
-
-
80053553994
-
The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries
-
Nigg EA, Stearns T. 2011. The centrosome cycle: centriole biogenesis, duplication and inherent asymmetries. Nat. Cell Biol. 13:1154-60
-
(2011)
Nat. Cell Biol
, vol.13
, pp. 1154-1160
-
-
Nigg, E.A.1
Stearns, T.2
-
124
-
-
78149468680
-
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
-
Nundlall S, Rajpar MH, Bell PA, Clowes C, Zeeff LA, et al. 2010. An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. Cell Stress Chaperones 15:835-49
-
(2010)
Cell Stress Chaperones
, vol.15
, pp. 835-849
-
-
Nundlall, S.1
Rajpar, M.H.2
Bell, P.A.3
Clowes, C.4
Zeeff, L.A.5
-
125
-
-
0345073699
-
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
-
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. 2003. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat. Genet. 33:497-501
-
(2003)
Nat. Genet
, vol.33
, pp. 497-501
-
-
O'Driscoll, M.1
Ruiz-Perez, V.L.2
Woods, C.G.3
Jeggo, P.A.4
Goodship, J.A.5
-
126
-
-
84870657902
-
Identification of the first ATRIPdeficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome
-
Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, et al. 2012. Identification of the first ATRIPdeficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome. PLOS Genet. 8:e1002945
-
(2012)
PLOS Genet
, vol.8
, pp. e1002945
-
-
Ogi, T.1
Walker, S.2
Stiff, T.3
Hobson, E.4
Limsirichaikul, S.5
-
127
-
-
84922478971
-
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells
-
Okada M, Ikegawa S, Morioka M, Yamashita A, Saito A, et al. 2015. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells. Hum. Mol. Genet. 24:299-313
-
(2015)
Hum. Mol. Genet
, vol.24
, pp. 299-313
-
-
Okada, M.1
Ikegawa, S.2
Morioka, M.3
Yamashita, A.4
Saito, A.5
-
128
-
-
34248589385
-
Activities of N-Myc in the developing limb link control of skeletal size with digit separation
-
Ota S, Zhou ZQ, Keene DR, Knoepfler P, Hurlin PJ. 2007. Activities of N-Myc in the developing limb link control of skeletal size with digit separation. Development 134:1583-92
-
(2007)
Development
, vol.134
, pp. 1583-1592
-
-
Ota, S.1
Zhou, Z.Q.2
Keene, D.R.3
Knoepfler, P.4
Hurlin, P.J.5
-
129
-
-
0030666372
-
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
-
Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, et al. 1997. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89:765-71
-
(1997)
Cell
, vol.89
, pp. 765-771
-
-
Otto, F.1
Thornell, A.P.2
Crompton, T.3
Denzel, A.4
Gilmour, K.C.5
-
130
-
-
79961127188
-
Induction of chondrogenic cells from dermal fibroblast culture by defined factors does not involve a pluripotent state
-
Outani H, Okada M, Hiramatsu K, Yoshikawa H, Tsumaki N. 2011. Induction of chondrogenic cells from dermal fibroblast culture by defined factors does not involve a pluripotent state. Biochem. Biophys. Res. Commun. 411:607-12
-
(2011)
Biochem. Biophys. Res. Commun
, vol.411
, pp. 607-612
-
-
Outani, H.1
Okada, M.2
Hiramatsu, K.3
Yoshikawa, H.4
Tsumaki, N.5
-
131
-
-
84885829608
-
Direct induction of chondrogenic cells from human dermal fibroblast culture by defined factors
-
Outani H, Okada M, Yamashita A, Nakagawa K, Yoshikawa H, Tsumaki N. 2013. Direct induction of chondrogenic cells from human dermal fibroblast culture by defined factors. PLOS ONE 8:e77365
-
(2013)
PLOS ONE
, vol.8
, pp. e77365
-
-
Outani, H.1
Okada, M.2
Yamashita, A.3
Nakagawa, K.4
Yoshikawa, H.5
Tsumaki, N.6
-
132
-
-
82255183048
-
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
-
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, et al. 2011. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat. Genet. 43:1256-61
-
(2011)
Nat. Genet
, vol.43
, pp. 1256-1261
-
-
Pansuriya, T.C.1
Van Eijk, R.2
d'Adamo, P.3
Van Ruler, M.A.4
Kuijjer, M.L.5
-
133
-
-
84907008348
-
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance
-
Payne F, Colnaghi R, Rocha N, Seth A, Harris J, et al. 2014. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J. Clin. Investig. 124:4028-38
-
(2014)
J. Clin. Investig
, vol.124
, pp. 4028-4038
-
-
Payne, F.1
Colnaghi, R.2
Rocha, N.3
Seth, A.4
Harris, J.5
-
134
-
-
84860774997
-
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
-
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, et al. 2012. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am. J. Hum. Genet. 90:864-70
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 864-870
-
-
Perrault, I.1
Saunier, S.2
Hanein, S.3
Filhol, E.4
Bizet, A.A.5
-
135
-
-
0034678396
-
The respective contributions of themother and daughter centrioles to centrosome activity and behavior in vertebrate cells
-
Piel M, Meyer P,Khodjakov A, Rieder CL, Bornens M. 2000. The respective contributions of themother and daughter centrioles to centrosome activity and behavior in vertebrate cells. J. Cell Biol. 149:317-30
-
(2000)
J. Cell Biol
, vol.149
, pp. 317-330
-
-
Piel, M.1
Meyer, P.2
Khodjakov, A.3
Rieder, C.L.4
Bornens, M.5
-
136
-
-
0021723456
-
Osteogenesis imperfecta: Cloning of a pro-α2(I) collagen gene with a frameshift mutation
-
Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls A, et al. 1984. Osteogenesis imperfecta: cloning of a pro-α2(I) collagen gene with a frameshift mutation. J. Biol. Chem. 259:12941-44
-
(1984)
J. Biol. Chem
, vol.259
, pp. 12941-12944
-
-
Pihlajaniemi, T.1
Dickson, L.A.2
Pope, F.M.3
Korhonen, V.R.4
Nicholls, A.5
-
137
-
-
80055077904
-
CtIP mutations cause Seckel and Jawad syndromes
-
Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, et al. 2011. CtIP mutations cause Seckel and Jawad syndromes. PLOS Genet. 7:e1002310
-
(2011)
PLOS Genet
, vol.7
, pp. e1002310
-
-
Qvist, P.1
Huertas, P.2
Jimeno, S.3
Nyegaard, M.4
Hassan, M.J.5
-
138
-
-
73349112261
-
Targeted induction of endoplasmic reticulum stress induces cartilage pathology
-
Rajpar MH, McDermott B, Kung L, Eardley R, Knowles L, et al. 2009. Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLOS Genet. 5:e1000691
-
(2009)
PLOS Genet
, vol.5
, pp. e1000691
-
-
Rajpar, M.H.1
McDermott, B.2
Kung, L.3
Eardley, R.4
Knowles, L.5
-
139
-
-
38949087294
-
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
-
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, et al. 2008. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319:816-19
-
(2008)
Science
, vol.319
, pp. 816-819
-
-
Rauch, A.1
Thiel, C.T.2
Schindler, D.3
Wick, U.4
Crow, Y.J.5
-
140
-
-
84872373752
-
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
-
Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, et al. 2013. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum. Mol. Genet. 22:444-51
-
(2013)
Hum. Mol. Genet
, vol.22
, pp. 444-451
-
-
Rios, J.J.1
Paria, N.2
Burns, D.K.3
Israel, B.A.4
Cornelia, R.5
-
141
-
-
84900017099
-
A dynamic cell adhesion surface regulates tissue architecture in growth plate cartilage
-
Romereim SM,Conoan NH, Chen B, Dudley AT. 2014. A dynamic cell adhesion surface regulates tissue architecture in growth plate cartilage. Development 141:2085-95
-
(2014)
Development
, vol.141
, pp. 2085-2095
-
-
Romereim, S.M.1
Conoan, N.H.2
Chen, B.3
Dudley, A.T.4
-
142
-
-
84863567538
-
Cell polarity: Themissing link in skeletalmorphogenesis
-
Romereim SM,Dudley AT. 2011. Cell polarity: themissing link in skeletalmorphogenesis? Organogenesis 7:217-28
-
(2011)
Organogenesis
, vol.7
, pp. 217-228
-
-
Romereim, S.M.1
Dudley, A.T.2
-
143
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, et al. 1994. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371:252-54
-
(1994)
Nature
, vol.371
, pp. 252-254
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
Pelet, A.4
Rozet, J.M.5
-
144
-
-
84864952694
-
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation
-
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, et al. 2012. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am. J. Hum. Genet. 91:337-42
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 337-342
-
-
Sarig, O.1
Nahum, S.2
Rapaport, D.3
Ishida-Yamamoto, A.4
Fuchs-Telem, D.5
-
146
-
-
84890143758
-
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
-
Schmidts M, Vodopiutz J, Christou-Savina S, Cortes CR, McInerney-Leo AM, et al. 2013. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am. J. Hum. Genet. 93:932-44
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 932-944
-
-
Schmidts, M.1
Vodopiutz, J.2
Christou-Savina, S.3
Cortes, C.R.4
McInerney-Leo, A.M.5
-
147
-
-
84891885235
-
The missing "link": An autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
-
Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, et al. 2014. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum. Genet. 133:29-39
-
(2014)
Hum. Genet
, vol.133
, pp. 29-39
-
-
Schreml, J.1
Durmaz, B.2
Cogulu, O.3
Keupp, K.4
Beleggia, F.5
-
148
-
-
84864927716
-
A mutation in the 5-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type v with hyperplastic callus
-
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, et al. 2012. A mutation in the 5-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am. J. Hum. Genet. 91:349-57
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 349-357
-
-
Semler, O.1
Garbes, L.2
Keupp, K.3
Swan, D.4
Zimmermann, K.5
-
149
-
-
84920890691
-
Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism
-
Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS. 2014. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J. Med. Genet. 51:814-16
-
(2014)
J. Med. Genet
, vol.51
, pp. 814-816
-
-
Shaheen, R.1
Al Tala, S.2
Almoisheer, A.3
Alkuraya, F.S.4
-
150
-
-
84870467220
-
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
-
Shaheen R, AlazamiAM, Alshammari MJ, FaqeihE,AlhashmiN, et al. 2012. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J. Med. Genet. 49:630-35
-
(2012)
J. Med. Genet
, vol.49
, pp. 630-635
-
-
Shaheen, R.1
Alazami, A.M.2
Alshammari, M.J.3
Faqeih, E.4
Alhashmi, N.5
-
151
-
-
84864920718
-
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism
-
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, et al. 2012. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am. J. Hum. Genet. 91:330-36
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 330-336
-
-
Shaheen, R.1
Faqeih, E.2
Shamseldin, H.E.3
Noche, R.R.4
Sunker, A.5
-
152
-
-
84924463169
-
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
-
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, et al. 2015. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum. Mol. Genet. 24:1410-19
-
(2015)
Hum. Mol. Genet
, vol.24
, pp. 1410-1419
-
-
Shaheen, R.1
Schmidts, M.2
Faqeih, E.3
Hashem, A.4
Lausch, E.5
-
153
-
-
84891834165
-
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans
-
Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, et al. 2014. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am. J. Hum. Genet. 94:73-79
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 73-79
-
-
Shaheen, R.1
Shamseldin, H.E.2
Loucks, C.M.3
Seidahmed, M.Z.4
Ansari, S.5
-
154
-
-
84883782471
-
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome
-
Shamseldin HE,Rajab A, Alhashem A, Shaheen R, Al-Shidi T, et al. 2013. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am. J. Hum. Genet. 93:555-60
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 555-560
-
-
Shamseldin, H.E.1
Rajab, A.2
Alhashem, A.3
Shaheen, R.4
Al-Shidi, T.5
-
155
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
ShiangR,ThompsonLM, ZhuYZ, ChurchDM,Fielder TJ, et al. 1994. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-42
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
Church, D.M.4
Fielder, T.J.5
-
156
-
-
34548371795
-
RNA interference and inhibition of MEKERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis
-
Shukla V, Coumoul X, Wang RH, KimHS, Deng CX. 2007. RNA interference and inhibition of MEKERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat. Genet. 39:1145-50
-
(2007)
Nat. Genet
, vol.39
, pp. 1145-1150
-
-
Shukla, V.1
Coumoul, X.2
Wang, R.H.3
Kim, H.S.4
Deng, C.X.5
-
157
-
-
74849098404
-
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
-
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, et al. 2010. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N. Engl. J. Med. 362:206-16
-
(2010)
N. Engl. J. Med
, vol.362
, pp. 206-216
-
-
Smits, P.1
Bolton, A.D.2
Funari, V.3
Hong, M.4
Boyden, E.D.5
-
158
-
-
34247118840
-
Development of the post-natal growth plate requires intraflagellar transport proteins
-
Song B, Haycraft CJ, Seo HS, Yoder BK, Serra R. 2007. Development of the post-natal growth plate requires intraflagellar transport proteins. Dev. Biol. 305:202-16
-
(2007)
Dev. Biol
, vol.305
, pp. 202-216
-
-
Song, B.1
Haycraft, C.J.2
Seo, H.S.3
Yoder, B.K.4
Serra, R.5
-
159
-
-
84875989545
-
Deficiency in origin licensing proteins impairs cilia formation: Implications for the aetiology of Meier-Gorlin syndrome
-
Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, et al. 2013. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLOS Genet. 9:e1003360
-
(2013)
PLOS Genet
, vol.9
, pp. e1003360
-
-
Stiff, T.1
Alagoz, M.2
Alcantara, D.3
Outwin, E.4
Brunner, H.G.5
-
160
-
-
0028232724
-
Limb alterations in brachypodism mice due to mutations in a new member of the TGFβ-superfamily
-
Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee SJ. 1994. Limb alterations in brachypodism mice due to mutations in a new member of the TGFβ-superfamily. Nature 368:639-43
-
(1994)
Nature
, vol.368
, pp. 639-643
-
-
Storm, E.E.1
Huynh, T.V.2
Copeland, N.G.3
Jenkins, N.A.4
Kingsley, D.M.5
Lee, S.J.6
-
161
-
-
84904036824
-
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
-
Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, et al. 2014. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am. J. Hum. Genet. 95:96-107
-
(2014)
Am. J. Hum. Genet
, vol.95
, pp. 96-107
-
-
Stray-Pedersen, A.1
Backe, P.H.2
Sorte, H.S.3
Morkrid, L.4
Chokshi, N.Y.5
-
162
-
-
84884681187
-
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
-
Symoens S, Malfait F, D'Hondt S, Callewaert B, Dheedene A, et al. 2013. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J. Rare Dis. 8:154
-
(2013)
Orphanet J. Rare Dis
, vol.8
, pp. 154
-
-
Symoens, S.1
Malfait, F.2
D'Hondt, S.3
Callewaert, B.4
Dheedene, A.5
-
163
-
-
78650861071
-
NEK1 mutations cause short-rib polydactyly syndrome type Majewski
-
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, et al. 2011. NEK1 mutations cause short-rib polydactyly syndrome type Majewski. Am. J. Hum. Genet. 88:106-14
-
(2011)
Am. J. Hum. Genet
, vol.88
, pp. 106-114
-
-
Thiel, C.1
Kessler, K.2
Giessl, A.3
Dimmler, A.4
Shalev, S.A.5
-
164
-
-
84864949904
-
TCTN3 mutations cause Mohr-Majewski syndrome
-
Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, et al. 2012. TCTN3 mutations cause Mohr-Majewski syndrome. Am. J. Hum. Genet. 91:372-78
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 372-378
-
-
Thomas, S.1
Legendre, M.2
Saunier, S.3
Bessieres, B.4
Alby, C.5
-
165
-
-
33947274572
-
Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function
-
Tsang KY, Chan D, Cheslett D, Chan WC, So CL, et al. 2007. Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function. PLOS Biol. 5:e44
-
(2007)
PLOS Biol
, vol.5
, pp. e44
-
-
Tsang, K.Y.1
Chan, D.2
Cheslett, D.3
Chan, W.C.4
So, C.L.5
-
166
-
-
0020591408
-
Restriction fragment length polymorphism associated with the proα2(I) gene of human type i procollagen: Application to a family with an autosomal dominant form of osteogenesis imperfecta
-
Tsipouras P, Myers JC, Ramirez F, Prockop DJ. 1983. Restriction fragment length polymorphism associated with the proα2(I) gene of human type I procollagen: application to a family with an autosomal dominant form of osteogenesis imperfecta. J. Clin. Investig. 72:1262-67
-
(1983)
J. Clin. Investig
, vol.72
, pp. 1262-1267
-
-
Tsipouras, P.1
Myers, J.C.2
Ramirez, F.3
Prockop, D.J.4
-
167
-
-
84862701588
-
Hearing loss in skeletal dysplasia patients
-
Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. 2012. Hearing loss in skeletal dysplasia patients. Am. J. Med. Genet. A 158A:1551-55
-
(2012)
Am. J. Med. Genet. A
, vol.158 A
, pp. 1551-1555
-
-
Tunkel, D.1
Alade, Y.2
Kerbavaz, R.3
Smith, B.4
Rose-Hardison, D.5
Hoover-Fong, J.6
-
168
-
-
84891833623
-
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
-
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, et al. 2014. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am. J. Hum. Genet. 94:62-72
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 62-72
-
-
Tuz, K.1
Bachmann-Gagescu, R.2
O'Day, D.R.3
Hua, K.4
Isabella, C.R.5
-
169
-
-
77749258183
-
Regulation of gene expression by PI3K in mouse growth plate chondrocytes
-
Ulici V, James CG, Hoenselaar KD, Beier F. 2010. Regulation of gene expression by PI3K in mouse growth plate chondrocytes. PLOS ONE 5:e8866
-
(2010)
PLOS ONE
, vol.5
, pp. e8866
-
-
Ulici, V.1
James, C.G.2
Hoenselaar, K.D.3
Beier, F.4
-
170
-
-
84891101360
-
Trafficking mechanisms of extracellular matrix macromolecules: Insights from vertebrate development and human diseases
-
Unlu G, Levic DS, Melville DB, Knapik EW. 2014. Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases. Int. J. Biochem. Cell Biol. 47:57-67
-
(2014)
Int. J. Biochem. Cell Biol
, vol.47
, pp. 57-67
-
-
Unlu, G.1
Levic, D.S.2
Melville, D.B.3
Knapik, E.W.4
-
171
-
-
77954144620
-
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
-
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, et al. 2010. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat. Genet. 42:619-25
-
(2010)
Nat. Genet
, vol.42
, pp. 619-625
-
-
Valente, E.M.1
Logan, C.V.2
Mougou-Zerelli, S.3
Lee, J.H.4
Silhavy, J.L.5
-
172
-
-
20944433656
-
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
-
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, et al. 2005. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat. Genet. 37:465-67
-
(2005)
Nat. Genet
, vol.37
, pp. 465-467
-
-
Van Bokhoven, H.1
Celli, J.2
Van Reeuwijk, J.3
Rinne, T.4
Glaudemans, B.5
-
173
-
-
0028339047
-
The gene for achondroplasia maps to the telomeric region of chromosome 4p
-
Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P. 1994. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat. Genet. 6:314-17
-
(1994)
Nat. Genet
, vol.6
, pp. 314-317
-
-
Velinov, M.1
Slaugenhaupt, S.A.2
Stoilov, I.3
Scott, C.I.4
Gusella, J.F.5
Tsipouras, P.6
-
174
-
-
84875595033
-
Poc1A and Poc1B act together in human cells to ensure centriole integrity
-
Venoux M, Tait X, Hames RS, Straatman KR, Woodland HR, Fry AM. 2013. Poc1A and Poc1B act together in human cells to ensure centriole integrity. J. Cell Sci. 126:163-75
-
(2013)
J. Cell Sci
, vol.126
, pp. 163-175
-
-
Venoux, M.1
Tait, X.2
Hames, R.S.3
Straatman, K.R.4
Woodland, H.R.5
Fry, A.M.6
-
175
-
-
39749143354
-
Targeted deletion reveals essential and overlapping functions of the miR-17 through 92 family of miRNA clusters
-
Ventura A, Young AG, Winslow MM, Lintault L, Meissner A, et al. 2008. Targeted deletion reveals essential and overlapping functions of the miR-17 through 92 family of miRNA clusters. Cell 132:875-86
-
(2008)
Cell
, vol.132
, pp. 875-886
-
-
Ventura, A.1
Young, A.G.2
Winslow, M.M.3
Lintault, L.4
Meissner, A.5
-
176
-
-
0033304828
-
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
-
Vilain E, Le MerrerM, Lecointre C, Desangles F,Kay MA, et al. 1999. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J. Clin. Endocrinol. Metab. 84:4335-40
-
(1999)
J. Clin. Endocrinol. Metab
, vol.84
, pp. 4335-4340
-
-
Vilain, E.1
Le Merrer, M.2
Lecointre, C.3
Desangles, F.4
Kay, M.A.5
-
177
-
-
0029750190
-
Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
-
Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. 1996. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273:613-22
-
(1996)
Science
, vol.273
, pp. 613-622
-
-
Vortkamp, A.1
Lee, K.2
Lanske, B.3
Segre, G.V.4
Kronenberg, H.M.5
Tabin, C.J.6
-
178
-
-
79551587194
-
Strange as it may seem: The many links between Wnt signaling, planar cell polarity, and cilia
-
Wallingford JB, Mitchell B. 2011. Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev. 25:201-13
-
(2011)
Genes Dev
, vol.25
, pp. 201-213
-
-
Wallingford, J.B.1
Mitchell, B.2
-
179
-
-
78650539993
-
Disruption ofPCPsignaling causes limbmorphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B
-
WangB, Sinha T, Jiao K, Serra R,Wang J. 2011. Disruption ofPCPsignaling causes limbmorphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. Hum. Mol. Genet. 20:271-85
-
(2011)
Hum. Mol. Genet
, vol.20
, pp. 271-285
-
-
Wang, B.1
Sinha, T.2
Jiao, K.3
Serra, R.4
Wang, J.5
-
180
-
-
70350061953
-
Asymmetric centrosome inheritance maintains neural progenitors in the neocortex
-
Wang X, Tsai JW, Imai JH, Lian WN, Vallee RB, Shi SH. 2009. Asymmetric centrosome inheritance maintains neural progenitors in the neocortex. Nature 461:947-55
-
(2009)
Nature
, vol.461
, pp. 947-955
-
-
Wang, X.1
Tsai, J.W.2
Imai, J.H.3
Lian, W.N.4
Vallee, R.B.5
Shi, S.H.6
-
181
-
-
23044500926
-
Linking covalent histone modifications to epigenetics: The rigidity and plasticity of the marks
-
Wang Y, Wysocka J, Perlin JR, Leonelli L, Allis CD, Coonrod SA. 2004. Linking covalent histone modifications to epigenetics: the rigidity and plasticity of the marks. Cold Spring Harb. Symp. Quant. Biol. 69:161-69
-
(2004)
Cold Spring Harb. Symp. Quant. Biol
, vol.69
, pp. 161-169
-
-
Wang, Y.1
Wysocka, J.2
Perlin, J.R.3
Leonelli, L.4
Allis, C.D.5
Coonrod, S.A.6
-
182
-
-
79955042501
-
Nosology and classification of genetic skeletal disorders: 2010 revision
-
Warman ML, Cormier-Daire V,Hall C, Krakow D, Lachman R, et al. 2011. Nosology and classification of genetic skeletal disorders: 2010 revision. Am. J. Med. Genet. A 155A:943-68
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, pp. 943-968
-
-
Warman, M.L.1
Cormier-Daire, V.2
Hall, C.3
Krakow, D.4
Lachman, R.5
-
183
-
-
0029945085
-
Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II
-
Webster MK, D'Avis PY, Robertson SC, Donoghue DJ. 1996. Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II. Mol. Cell. Biol. 16:4081-87
-
(1996)
Mol. Cell. Biol
, vol.16
, pp. 4081-4087
-
-
Webster, M.K.1
D'Avis, P.Y.2
Robertson, S.C.3
Donoghue, D.J.4
-
184
-
-
0030064347
-
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
-
WebsterMK, Donoghue DJ. 1996. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J. 15:520-27
-
(1996)
EMBO J
, vol.15
, pp. 520-527
-
-
Webster, M.K.1
Donoghue, D.J.2
-
185
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein LS, Shenker A, Gejman PV,MerinoMJ, Friedman E, Spiegel AM. 1991. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N. Engl. J. Med. 325:1688-95
-
(1991)
N. Engl. J. Med
, vol.325
, pp. 1688-1695
-
-
Weinstein, L.S.1
Shenker, A.2
Gejman, P.V.3
Merino, M.J.4
Friedman, E.5
Spiegel, A.M.6
-
186
-
-
84928935546
-
Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism
-
Wendt DJ, Dvorak-Ewell M, Bullens S, Lorget F, Bell SM, et al. 2015. Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism. J. Pharmacol. Exp. Ther. 353:132-49
-
(2015)
J. Pharmacol. Exp. Ther
, vol.353
, pp. 132-149
-
-
Wendt, D.J.1
Dvorak-Ewell, M.2
Bullens, S.3
Lorget, F.4
Bell, S.M.5
-
187
-
-
77955584378
-
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
-
Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, et al. 2010. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am. J. Hum. Genet. 87:219-28
-
(2010)
Am. J. Hum. Genet
, vol.87
, pp. 219-228
-
-
Williams, S.R.1
Aldred, M.A.2
Der Kaloustian, V.M.3
Halal, F.4
Gowans, G.5
-
188
-
-
84908890496
-
Defining the role of common variation in the genomic and biological architecture of adult human height
-
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, et al. 2014. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46:1173-86
-
(2014)
Nat. Genet
, vol.46
, pp. 1173-1186
-
-
Wood, A.R.1
Esko, T.2
Yang, J.3
Vedantam, S.4
Pers, T.H.5
-
189
-
-
84865787549
-
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality ofmice mimicking human achondroplasia and thanatophoric dysplasia
-
Xie Y, Su N, Jin M, Qi H, Yang J, et al. 2012. Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality ofmice mimicking human achondroplasia and thanatophoric dysplasia. Hum. Mol. Genet. 21:3941-55
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 3941-3955
-
-
Xie, Y.1
Su, N.2
Jin, M.3
Qi, H.4
Yang, J.5
-
190
-
-
84891781317
-
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
-
Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, et al. 2014. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am. J. Hum. Genet. 94:113-19
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 113-119
-
-
Yamamoto, G.L.1
Baratela, W.A.2
Almeida, T.F.3
Lazar, M.4
Afonso, C.L.5
-
191
-
-
84908571755
-
Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
-
Yamashita A, Morioka M, Kishi H, Kimura T, Yahara Y, et al. 2014. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature 513:507-11
-
(2014)
Nature
, vol.513
, pp. 507-511
-
-
Yamashita, A.1
Morioka, M.2
Kishi, H.3
Kimura, T.4
Yahara, Y.5
-
192
-
-
58049197169
-
PTEN deficiency causes dyschondroplasia in mice by enhanced hypoxia-inducible factor 1αsignaling and endoplasmic reticulum stress
-
Yang G, Sun Q, Teng Y, Li F, Weng T, Yang X. 2008. PTEN deficiency causes dyschondroplasia in mice by enhanced hypoxia-inducible factor 1αsignaling and endoplasmic reticulum stress. Development 135:3587-97
-
(2008)
Development
, vol.135
, pp. 3587-3597
-
-
Yang, G.1
Sun, Q.2
Teng, Y.3
Li, F.4
Weng, T.5
Yang, X.6
-
193
-
-
85028166451
-
Osteogenic fate of hypertrophic chondrocytes
-
Yang G, Zhu L, Hou N, Lan Y, Wu XM, et al. 2014. Osteogenic fate of hypertrophic chondrocytes. Cell Res. 24:1266-69
-
(2014)
Cell Res
, vol.24
, pp. 1266-1269
-
-
Yang, G.1
Zhu, L.2
Hou, N.3
Lan, Y.4
Wu, X.M.5
-
194
-
-
84906319227
-
Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation
-
Yang L, Tsang KY, Tang HC, Chan D, Cheah KS. 2014. Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation. PNAS 111:12097-102
-
(2014)
PNAS
, vol.111
, pp. 12097-12102
-
-
Yang, L.1
Tsang, K.Y.2
Tang, H.C.3
Chan, D.4
Cheah, K.S.5
-
195
-
-
67649672624
-
Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias
-
Yasoda A, Kitamura H, Fujii T, Kondo E, Murao N, et al. 2009. Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias. Endocrinology 150:3138-44
-
(2009)
Endocrinology
, vol.150
, pp. 3138-3144
-
-
Yasoda, A.1
Kitamura, H.2
Fujii, T.3
Kondo, E.4
Murao, N.5
-
196
-
-
11144358656
-
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
-
Yasoda A, Komatsu Y, Chusho H, Miyazawa T, Ozasa A, et al. 2004. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat. Med. 10:80-86
-
(2004)
Nat. Med
, vol.10
, pp. 80-86
-
-
Yasoda, A.1
Komatsu, Y.2
Chusho, H.3
Miyazawa, T.4
Ozasa, A.5
-
197
-
-
77957739499
-
Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias
-
Yasoda A, Nakao K. 2010. Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias. Endocr. J. 57:659-66
-
(2010)
Endocr. J
, vol.57
, pp. 659-666
-
-
Yasoda, A.1
Nakao, K.2
-
198
-
-
84919667212
-
Chondrocytes transdifferentiate into osteoblasts in endochondral bone during development, postnatal growth and fracture healing in mice
-
Zhou X, von der Mark K, Henry S, Norton W, Adams H, de Crombrugghe B. 2014. Chondrocytes transdifferentiate into osteoblasts in endochondral bone during development, postnatal growth and fracture healing in mice. PLOS Genet. 10:e1004820
-
(2014)
PLOS Genet
, vol.10
, pp. e1004820
-
-
Zhou, X.1
Von Der Mark, K.2
Henry, S.3
Norton, W.4
Adams, H.5
De Crombrugghe, B.6
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