-
1
-
-
60849125859
-
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
-
Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, et al: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1: 8 (2008a).
-
(2008)
Mol Cytogenet
, vol.1
, pp. 8
-
-
Ballif, B.C.1
Theisen, A.2
Coppinger, J.3
Gowans, G.C.4
Hersh, J.H.5
-
2
-
-
53949084425
-
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
-
Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, et al: Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 74: 469-475 (2008b).
-
(2008)
Clin Genet
, vol.74
, pp. 469-475
-
-
Ballif, B.C.1
Theisen, A.2
McDonald-Mcginn, D.M.3
Zackai, E.H.4
Hersh, J.H.5
-
3
-
-
84856656664
-
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
-
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, et al: High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 131: 145-156 (2012).
-
(2012)
Hum Genet
, vol.131
, pp. 145-156
-
-
Ballif, B.C.1
Rosenfeld, J.A.2
Traylor, R.3
Theisen, A.4
Bader, P.I.5
-
4
-
-
57149110046
-
Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC
-
Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J: Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. Am J Med Genet A 146A:3054-3057 (2008).
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 3054-3057
-
-
Bar-Yosef, O.1
Polak-Charcon, S.2
Hoffman, C.3
Feldman, Z.P.4
Frydman, M.5
Kuint, J.6
-
5
-
-
0030636780
-
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, et al: Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15: 30-35 (1997).
-
(1997)
Nat Genet
, vol.15
, pp. 30-35
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.C.3
Levi, T.4
Elkins, J.A.5
-
6
-
-
16344393207
-
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
-
Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, et al: Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 134: 259-267 (2005).
-
(2005)
Am J Med Genet A
, vol.134
, pp. 259-267
-
-
Bejjani, B.A.1
Saleki, R.2
Ballif, B.C.3
Rorem, E.A.4
Sundin, K.5
-
7
-
-
0031755753
-
LMP-1, a LIM-domain protein, mediates BMP-6 effects on bone formation
-
Boden SD, Liu Y, Hair GA, Helms JA, Hu D, et al: LMP-1, a LIM-domain protein, mediates BMP-6 effects on bone formation. Endocrinology 139: 5125-5134 (1998).
-
(1998)
Endocrinology
, vol.139
, pp. 5125-5134
-
-
Boden, S.D.1
Liu, Y.2
Hair, G.A.3
Helms, J.A.4
Hu, D.5
-
8
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, et al: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40: 1466-1471 (2008).
-
(2008)
Nat Genet
, vol.40
, pp. 1466-1471
-
-
Brunetti-Pierri, N.1
Berg, J.S.2
Scaglia, F.3
Belmont, J.4
Bacino, C.A.5
-
9
-
-
78650437222
-
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
-
Busse T, Graham JM Jr, Feldman G, Perin J, Catherwood A, et al: High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome. Hum Mutat 32: 91-97 (2011).
-
(2011)
Hum Mutat
, vol.32
, pp. 91-97
-
-
Busse, T.1
Graham, Jr.J.M.2
Feldman, G.3
Perin, J.4
Catherwood, A.5
-
10
-
-
33746633394
-
LMP4 regulates Tbx5 protein subcellular localization and activity
-
Camarata T, Bimber B, Kulisz A, Chew TL, Yeung J, Simon HG: LMP4 regulates Tbx5 protein subcellular localization and activity. J Cell Biol 174: 339-348 (2006).
-
(2006)
J Cell Biol
, vol.174
, pp. 339-348
-
-
Camarata, T.1
Bimber, B.2
Kulisz, A.3
Chew, T.L.4
Yeung, J.5
Simon, H.G.6
-
11
-
-
72649083705
-
Pdlim7 (LMP4) regulation of Tbx5 specifies zebrafish heart atrioventricular boundary and valve formation
-
Camarata T, Krcmery J, Snyder D, Park S, Topczewski J, Simon HG: Pdlim7 (LMP4) regulation of Tbx5 specifies zebrafish heart atrioventricular boundary and valve formation. Dev Biol 337: 233-245 (2010a).
-
(2010)
Dev Biol
, vol.337
, pp. 233-245
-
-
Camarata, T.1
Krcmery, J.2
Snyder, D.3
Park, S.4
Topczewski, J.5
Simon, H.G.6
-
12
-
-
77957891765
-
Pdlim7 is required for maintenance of the mesenchymal/epidermal Fgf signaling feedback loop during zebrafish pectoral fin development
-
Camarata T, Snyder D, Schwend T, Klosowiak J, Holtrup B, Simon HG: Pdlim7 is required for maintenance of the mesenchymal/epidermal Fgf signaling feedback loop during zebrafish pectoral fin development. BMC Dev Biol 10: 104 (2010b).
-
(2010)
BMC Dev Biol
, vol.10
, pp. 104
-
-
Camarata, T.1
Snyder, D.2
Schwend, T.3
Klosowiak, J.4
Holtrup, B.5
Simon, H.G.6
-
13
-
-
70349764552
-
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts
-
Chamoux E, Couture J, Bisson M, Morissette J, Brown JP, Roux S: The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. Mol Endocrinol 23: 1668-1680 (2009).
-
(2009)
Mol Endocrinol
, vol.23
, pp. 1668-1680
-
-
Chamoux, E.1
Couture, J.2
Bisson, M.3
Morissette, J.4
Brown, J.P.5
Roux, S.6
-
14
-
-
33745621356
-
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
-
Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, et al: Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Am J Med Genet A 140: 1594-1600 (2006).
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1594-1600
-
-
Chen, C.P.1
Lin, S.P.2
Lin, C.C.3
Chen, Y.J.4
Chern, S.R.5
-
15
-
-
0035448879
-
Growth retardation and increased apoptosis in mice with homozygous disruption of the Akt1 gene
-
Chen WS, Xu PZ, Gottlob K, Chen ML, Sokol K, et al: Growth retardation and increased apoptosis in mice with homozygous disruption of the Akt1 gene. Genes Dev 15: 2203-2208 (2001).
-
(2001)
Genes Dev
, vol.15
, pp. 2203-2208
-
-
Chen, W.S.1
Xu, P.Z.2
Gottlob, K.3
Chen, M.L.4
Sokol, K.5
-
16
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, et al: A copy number variation morbidity map of developmental delay. Nat Genet 43: 838-846 (2011).
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
Rosenfeld, J.A.4
Vu, T.H.5
-
17
-
-
70350336003
-
Genomic sisterdisorders of neurodevelopment: An evolutionary approach
-
Crespi B, Summers K, Dorus S: Genomic sisterdisorders of neurodevelopment: an evolutionary approach. Evolutionary Applications 2: 81-100 (2009).
-
(2009)
Evolutionary Applications
, vol.2
, pp. 81-100
-
-
Crespi, B.1
Summers, K.2
Dorus, S.3
-
18
-
-
76549129054
-
Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia
-
Crespi B, Stead P, Elliot M: Evolution in health and medicine Sackler colloquium: comparative genomics of autism and schizophrenia. Proc Natl Acad Sci USA 107 Suppl 1: 1736-1741 (2010).
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 1736-1741
-
-
Crespi, B.1
Stead, P.2
Elliot, M.3
-
19
-
-
33746661657
-
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
-
Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, et al: Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet 42:e56 (2005).
-
(2005)
J Med Genet
, vol.42
, pp. e56
-
-
Douglas, J.1
Tatton-Brown, K.2
Coleman, K.3
Guerrero, S.4
Berg, J.5
-
20
-
-
77958486211
-
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
-
Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, et al: Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 18: 1196-1201 (2010).
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1196-1201
-
-
Duker, A.L.1
Ballif, B.C.2
Bawle, E.V.3
Person, R.E.4
Mahadevan, S.5
-
21
-
-
84857688284
-
Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias
-
Foldynova-Trantirkova S, Wilcox WR, Krejci P: Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat 33: 29-41 (2012).
-
(2012)
Hum Mutat
, vol.33
, pp. 29-41
-
-
Foldynova-Trantirkova, S.1
Wilcox, W.R.2
Krejci, P.3
-
22
-
-
0037930098
-
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome
-
Fomenkov A, Huang YP, Topaloglu O, Brechman A, Osada M, et al: P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J Biol Chem 278: 23906-23914 (2003).
-
(2003)
J Biol Chem
, vol.278
, pp. 23906-23914
-
-
Fomenkov, A.1
Huang, Y.P.2
Topaloglu, O.3
Brechman, A.4
Osada, M.5
-
23
-
-
74449086534
-
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
-
Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, et al: A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet 18: 258-261 (2010).
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 258-261
-
-
Franco, L.M.1
De Ravel, T.2
Graham, B.H.3
Frenkel, S.M.4
Van Driessche, J.5
-
24
-
-
13544266559
-
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
-
Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, et al: Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 13: 139-149 (2005).
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 139-149
-
-
Gajecka, M.1
Yu, W.2
Ballif, B.C.3
Glotzbach, C.D.4
Bailey, K.A.5
-
25
-
-
2542528670
-
A family with severe insulin resistance and diabetes due to a mutation in AKT2
-
George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S, et al: A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 304: 1325-1328 (2004).
-
(2004)
Science
, vol.304
, pp. 1325-1328
-
-
George, S.1
Rochford, J.J.2
Wolfrum, C.3
Gray, S.L.4
Schinner, S.5
-
26
-
-
84861075586
-
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
-
Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, et al: KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485: 363-367 (2012).
-
(2012)
Nature
, vol.485
, pp. 363-367
-
-
Golzio, C.1
Willer, J.2
Talkowski, M.E.3
Oh, E.C.4
Taniguchi, Y.5
-
27
-
-
12744281109
-
The Hunter-McAlpine syndrome results from duplication 5q35-qter
-
Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, et al: The Hunter-McAlpine syndrome results from duplication 5q35-qter. Clin Genet 67: 53-60 (2005).
-
(2005)
Clin Genet
, vol.67
, pp. 53-60
-
-
Hunter, A.G.1
Dupont, B.2
McLaughlin, M.3
Hinton, L.4
Baker, E.5
-
28
-
-
80055087787
-
An activating mutation of AKT2 and human hypoglycemia
-
Hussain K, Challis B, Rocha N, Payne F, Minic M, et al: An activating mutation of AKT2 and human hypoglycemia. Science 334: 474 (2011).
-
(2011)
Science
, vol.334
, pp. 474
-
-
Hussain, K.1
Challis, B.2
Rocha, N.3
Payne, F.4
Minic, M.5
-
29
-
-
0027431005
-
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
-
Jabs EW, Muller U, Li X, Ma L, Luo W, et al: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75: 443-450 (1993).
-
(1993)
Cell
, vol.75
, pp. 443-450
-
-
Jabs, E.W.1
Muller, U.2
Li, X.3
Ma, L.4
Luo, W.5
-
30
-
-
80053920983
-
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
-
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, et al: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478: 97-102 (2011).
-
(2011)
Nature
, vol.478
, pp. 97-102
-
-
Jacquemont, S.1
Reymond, A.2
Zufferey, F.3
Harewood, L.4
Walters, R.G.5
-
31
-
-
67349183399
-
Characterisation of the constitutive over-expression of AJ18 in a novel rat stromal bone marrow cell line (D8-SBMC)
-
Jheon A, Bansal AK, Zhu B, Ganss B, Cheifetz S, Sodek J: Characterisation of the constitutive over-expression of AJ18 in a novel rat stromal bone marrow cell line (D8-SBMC). Arch Oral Biol 54: 705-716 (2009).
-
(2009)
Arch Oral Biol
, vol.54
, pp. 705-716
-
-
Jheon, A.1
Bansal, A.K.2
Zhu, B.3
Ganss, B.4
Cheifetz, S.5
Sodek, J.6
-
32
-
-
67649870804
-
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
-
Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, et al: Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A 149A:1544-1549 (2009).
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1544-1549
-
-
Kariminejad, A.1
Kariminejad, R.2
Tzschach, A.3
Ullmann, R.4
Ahmed, A.5
-
33
-
-
80053122150
-
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome
-
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kucinskiene ZA, et al: De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. Am J Med Genet A 155A:2501-2507 (2011).
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2501-2507
-
-
Kasnauskiene, J.1
Cimbalistiene, L.2
Ciuladaite, Z.3
Preiksaitiene, E.4
Kucinskiene, Z.A.5
-
34
-
-
80052454764
-
Sotos syndrome infantile hypercalcemia and nephrocalcinosis: A contiguous gene syndrome
-
Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, et al: Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. Pediatr Nephrol 26: 1331-1334 (2011).
-
(2011)
Pediatr Nephrol
, vol.26
, pp. 1331-1334
-
-
Kenny, J.1
Lees, M.M.2
Drury, S.3
Barnicoat, A.4
Van'T Hoff, W.5
-
35
-
-
33846329439
-
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
-
Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T: MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet 50: 33-42 (2007).
-
(2007)
Eur J Med Genet
, vol.50
, pp. 33-42
-
-
Kirchhoff, M.1
Bisgaard, A.M.2
Bryndorf, T.3
Gerdes, T.4
-
36
-
-
4043139388
-
Tbx5 and Tbx4 transcription factors interact with a new chicken PDZLIM protein in limb and heart development
-
Krause A, Zacharias W, Camarata T, Linkhart B, Law E, et al: Tbx5 and Tbx4 transcription factors interact with a new chicken PDZLIM protein in limb and heart development. Dev Biol 273: 106-120 (2004).
-
(2004)
Dev Biol
, vol.273
, pp. 106-120
-
-
Krause, A.1
Zacharias, W.2
Camarata, T.3
Linkhart, B.4
Law, E.5
-
37
-
-
10744221892
-
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
-
Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, et al: Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 22: 378-387 (2003).
-
(2003)
Hum Mutat
, vol.22
, pp. 378-387
-
-
Kurotaki, N.1
Harada, N.2
Shimokawa, O.3
Miyake, N.4
Kawame, H.5
-
38
-
-
26844525739
-
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
-
Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, et al: Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 7: 479-483 (2005).
-
(2005)
Genet Med
, vol.7
, pp. 479-483
-
-
Kurotaki, N.1
Shen, J.J.2
Touyama, M.3
Kondoh, T.4
Visser, R.5
-
39
-
-
84863685348
-
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men
-
Lacaria M, Saha P, Potocki L, Bi W, Yan J, et al: A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet 8:e1002713 (2012).
-
(2012)
PLoS Genet
, vol.8
, pp. e1002713
-
-
Lacaria, M.1
Saha, P.2
Potocki, L.3
Bi, W.4
Yan, J.5
-
40
-
-
33846566729
-
Fibroblast growth factor expression in the postnatal growth plate
-
Lazarus JE, Hegde A, Andrade AC, Nilsson O, Baron J: Fibroblast growth factor expression in the postnatal growth plate. Bone 40: 577-586 (2007).
-
(2007)
Bone
, vol.40
, pp. 577-586
-
-
Lazarus, J.E.1
Hegde, A.2
Andrade, A.C.3
Nilsson, O.4
Baron, J.5
-
41
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations in TBX5 , a member of the Brachyury (T) gene family
-
Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, et al: Holt-Oram syndrome is caused by mutations in TBX5 , a member of the Brachyury (T) gene family. Nat Genet 15: 21-29 (1997).
-
(1997)
Nat Genet
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
Newbury-Ecob, R.A.2
Terrett, J.A.3
Wilson, D.I.4
Curtis, A.R.5
-
42
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
-
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, et al: A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365: 611-619 (2011).
-
(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
-
43
-
-
0036181992
-
Overexpressed LIM mineralization proteins do not require LIM domains to induce bone
-
Liu Y, Hair GA, Boden SD, Viggeswarapu M, Titus L: Overexpressed LIM mineralization proteins do not require LIM domains to induce bone. J Bone Miner Res 17: 406-414 (2002).
-
(2002)
J Bone Miner Res
, vol.17
, pp. 406-414
-
-
Liu, Y.1
Hair, G.A.2
Boden, S.D.3
Viggeswarapu, M.4
Titus, L.5
-
44
-
-
0029031566
-
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull
-
Liu YH, Kundu R, Wu L, Luo W, Ignelzi MA Jr, et al: Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc Natl Acad Sci USA 92: 6137-6141 (1995).
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 6137-6141
-
-
Liu, Y.H.1
Kundu, R.2
Wu, L.3
Luo, W.4
Ignelzi, Jr.M.A.5
-
45
-
-
78049275346
-
Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function
-
Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, Carpenter PB: Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function. Proc Natl Acad Sci USA 107: 16952-16957 (2010).
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 16952-16957
-
-
Lucio-Eterovic, A.K.1
Singh, M.M.2
Gardner, J.E.3
Veerappan, C.S.4
Rice, J.C.5
Carpenter, P.B.6
-
46
-
-
61849095684
-
JNK activity is essential for Atf4 expression and late-stage osteoblast differentiation
-
Matsuguchi T, Chiba N, Bandow K, Kakimoto K, Masuda A, Ohnishi T: JNK activity is essential for Atf4 expression and late-stage osteoblast differentiation. J Bone Miner Res 24: 398-410 (2009).
-
(2009)
J Bone Miner Res
, vol.24
, pp. 398-410
-
-
Matsuguchi, T.1
Chiba, N.2
Bandow, K.3
Kakimoto, K.4
Masuda, A.5
Ohnishi, T.6
-
47
-
-
84855279854
-
The adaptor protein p62/SQSTM1 in osteoclast signaling pathways
-
McManus S, Roux S: The adaptor protein p62/SQSTM1 in osteoclast signaling pathways. J Mol Signal 7: 1 (2012).
-
(2012)
J Mol Signal
, vol.7
, pp. 1
-
-
McManus, S.1
Roux, S.2
-
48
-
-
52449086613
-
Alu-related 5q35 microdeletions in Sotos syndrome
-
Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, et al: Alu-related 5q35 microdeletions in Sotos syndrome. Clin Genet 74: 384-391 (2008).
-
(2008)
Clin Genet
, vol.74
, pp. 384-391
-
-
Mochizuki, J.1
Saitsu, H.2
Mizuguchi, T.3
Nishimura, A.4
Visser, R.5
-
49
-
-
0037374850
-
Sotos syndrome and haploinsufficiency of NSD1 : Clinical features of intragenic mutations and submicroscopic deletions
-
Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, et al: Sotos syndrome and haploinsufficiency of NSD1 : clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 40: 285-289 (2003).
-
(2003)
J Med Genet
, vol.40
, pp. 285-289
-
-
Nagai, T.1
Matsumoto, N.2
Kurotaki, N.3
Harada, N.4
Niikawa, N.5
-
50
-
-
84864309431
-
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia
-
Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, et al: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. J Med Genet 49: 437-441 (2012).
-
(2012)
J Med Genet
, vol.49
, pp. 437-441
-
-
Ott, C.E.1
Hein, H.2
Lohan, S.3
Hoogeboom, J.4
Foulds, N.5
-
51
-
-
84859646140
-
Somatic activation of AKT3 causes hemispheric developmental brain malformations
-
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, et al: Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74: 41-48 (2012).
-
(2012)
Neuron
, vol.74
, pp. 41-48
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
Elhosary, P.C.4
Beroukhim, R.5
-
52
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3 PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, et al: De novo germline and postzygotic mutations in AKT3 , PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44: 934-940 (2012).
-
(2012)
Nat Genet
, vol.44
, pp. 934-940
-
-
Riviere, J.B.1
Mirzaa, G.M.2
O'Roak, B.J.3
Beddaoui, M.4
Alcantara, D.5
-
53
-
-
35648965252
-
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome
-
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, et al: Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 28: 1098-1107 (2007).
-
(2007)
Hum Mutat
, vol.28
, pp. 1098-1107
-
-
Saugier-Veber, P.1
Bonnet, C.2
Afenjar, A.3
Drouin-Garraud, V.4
Coubes, C.5
-
54
-
-
79956192537
-
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome?
-
Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ: Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome? Am J Med Genet A 155A:1409-1413 (2011).
-
(2011)
Am J Med Genet A
, vol.155
, Issue.A
, pp. 1409-1413
-
-
Sellars, E.A.1
Zimmerman, S.L.2
Smolarek, T.3
Hopkin, R.J.4
-
55
-
-
69749121852
-
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
-
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, et al: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19: 1682-1690 (2009).
-
(2009)
Genome Res
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
-
56
-
-
77953704493
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
-
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, et al: Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47: 332-341 (2010).
-
(2010)
J Med Genet
, vol.47
, pp. 332-341
-
-
Shinawi, M.1
Liu, P.2
Kang, S.H.3
Shen, J.4
Belmont, J.W.5
-
57
-
-
20244383850
-
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
-
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, et al: Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet 42: 307-313 (2005a).
-
(2005)
J Med Genet
, vol.42
, pp. 307-313
-
-
Tatton-Brown, K.1
Douglas, J.2
Coleman, K.3
Baujat, G.4
Chandler, K.5
-
58
-
-
22544456244
-
Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations
-
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, et al: Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77: 193-204 (2005b).
-
(2005)
Am J Hum Genet
, vol.77
, pp. 193-204
-
-
Tatton-Brown, K.1
Douglas, J.2
Coleman, K.3
Baujat, G.4
Cole, T.R.5
-
59
-
-
69449100160
-
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: Case report
-
Traylor RN, Fan Z, Hudson B, Rosenfeld JA, Shaffer LG, et al: Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet 2: 17 (2009).
-
(2009)
Mol Cytogenet
, vol.2
, pp. 17
-
-
Traylor, R.N.1
Fan, Z.2
Hudson, B.3
Rosenfeld, J.A.4
Shaffer, L.G.5
-
60
-
-
11144278605
-
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion
-
Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, et al: Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet 76: 52-67 (2005).
-
(2005)
Am J Hum Genet
, vol.76
, pp. 52-67
-
-
Visser, R.1
Shimokawa, O.2
Harada, N.3
Kinoshita, A.4
Ohta, T.5
-
61
-
-
84856120332
-
Understanding the language of Lys36 methylation at histone H3
-
Wagner EJ, Carpenter PB: Understanding the language of Lys36 methylation at histone H3. Nat Rev Mol Cell Biol 13: 115-126 (2012).
-
(2012)
Nat Rev Mol Cell Biol
, vol.13
, pp. 115-126
-
-
Wagner, E.J.1
Carpenter, P.B.2
-
62
-
-
0034074417
-
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
-
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, et al: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24: 387-390 (2000).
-
(2000)
Nat Genet
, vol.24
, pp. 387-390
-
-
Wilkie, A.O.1
Tang, Z.2
Elanko, N.3
Walsh, S.4
Twigg, S.R.5
-
63
-
-
0345466503
-
JAZ requires the doublestranded RNA-binding zinc finger motifs for nuclear localization
-
Yang M, May WS, Ito T: JAZ requires the doublestranded RNA-binding zinc finger motifs for nuclear localization. J Biol Chem 274: 27399-27406 (1999).
-
(1999)
J Biol Chem
, vol.274
, pp. 27399-27406
-
-
Yang, M.1
May, W.S.2
Ito, T.3
-
64
-
-
79956223037
-
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age
-
Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, et al: Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. Am J Med Genet A 155A:1374-1378 (2011).
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 1374-1378
-
-
Zhang, H.1
Lu, X.2
Beasley, J.3
Mulvihill, J.J.4
Liu, R.5
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