-
2
-
-
0033870788
-
A novel mutation, Ala315Ser, in FGFR2: A gene-environment interaction leading to craniosynostosis?
-
DOI 10.1038/sj.ejhg.5200499
-
Johnson, D. et al. A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? Eur. J. Hum. Genet. 8, 571-577 (2000). (Pubitemid 30639362)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.8
, pp. 571-577
-
-
Johnson, D.1
Wall, S.A.2
Mann, S.3
Wilkie, A.O.M.4
-
3
-
-
34247256382
-
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations
-
DOI 10.1002/ajmg.a.31630
-
Seto, M.L. et al. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am. J. Med. Genet. A 143, 678-686 (2007). (Pubitemid 46606676)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.7
, pp. 678-686
-
-
Seto, M.L.1
Hing, A.V.2
Chang, J.3
Hu, M.4
Kapp-Simon, K.A.5
Patel, P.K.6
Burton, B.K.7
Kane, A.A.8
Smyth, M.D.9
Hopper, R.10
Ellenbogen, R.G.11
Stevenson, K.12
Speltz, M.L.13
Cunningham, M.L.14
-
4
-
-
84870480470
-
Molecular analysis of 74 patients with craniosynostosis
-
179
-
Weber, I. et al. Molecular analysis of 74 patients with craniosynostosis. Eur. J. Hum. Genet. 9 (suppl. 1), P0409, 179 (2001).
-
(2001)
Eur. J. Hum. Genet
, vol.9
, Issue.SUPPL. 1
-
-
Weber, I.1
-
5
-
-
33645810601
-
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis
-
Merrill, A.E. et al. Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum. Mol. Genet. 15, 1319-1328 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1319-1328
-
-
Merrill, A.E.1
-
6
-
-
34547642377
-
Clinical dividends from the molecular genetic diagnosis of craniosynostosis
-
Wilkie, A.O. et al. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am. J. Med. Genet. A 143A, 1941-1949 (2007).
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 1941-1949
-
-
Wilkie, A.O.1
-
7
-
-
77956118641
-
Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
-
Mefford, H.C. et al. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am. J. Med. Genet. A 152A, 2203-2210 (2010).
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 2203-2210
-
-
Mefford, H.C.1
-
8
-
-
80053437424
-
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
-
Vissers, L.E. et al. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 7, e1002278 (2011).
-
(2011)
PLoS Genet
, vol.7
-
-
Vissers, L.E.1
-
9
-
-
84861191577
-
Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1
-
Kim, S.-D. et al. Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett. 586, 1516-1521 (2012).
-
(2012)
FEBS Lett
, vol.586
, pp. 1516-1521
-
-
Kim, S.-D.1
-
10
-
-
78649677069
-
Genetic basis of potential therapeutic strategies for craniosynostosis
-
Melville, H. et al. Genetic basis of potential therapeutic strategies for craniosynostosis. Am. J. Med. Genet. A 152A, 3007-3015 (2010).
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 3007-3015
-
-
Melville, H.1
-
11
-
-
77955481154
-
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis
-
Wilkie, A.O. et al. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 126, e391-e400 (2010).
-
(2010)
Pediatrics
, vol.126
-
-
Wilkie, A.O.1
-
12
-
-
45849092258
-
Genetics of craniosynostosis: Genes, syndromes, mutations and genotype-phenotype correlations
-
Passos-Bueno, M.R. et al. Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. Front. Oral Biol. 12, 107-143 (2008).
-
(2008)
Front. Oral Biol
, vol.12
, pp. 107-143
-
-
Passos-Bueno, M.R.1
-
13
-
-
35548951744
-
Genetics of Craniosynostosis
-
DOI 10.1016/j.spen.2007.08.008, PII S1071909107000617, Advances in Clinical Genetics (Part II)
-
Kimonis, V. et al. Genetics of craniosynostosis. Semin. Pediatr. Neurol. 14, 150-161 (2007). (Pubitemid 350008077)
-
(2007)
Seminars in Pediatric Neurology
, vol.14
, Issue.3
, pp. 150-161
-
-
Kimonis, V.1
Gold, J.-A.2
Hoffman, T.L.3
Panchal, J.4
Boyadjiev, S.A.5
-
14
-
-
79551611131
-
An epidemiological study of nonsyndromal craniosynostoses
-
Kolar, J.C. An epidemiological study of nonsyndromal craniosynostoses. J. Craniofac. Surg. 22, 47-49 (2011).
-
(2011)
J. Craniofac. Surg
, vol.22
, pp. 47-49
-
-
Kolar, J.C.1
-
15
-
-
32944465485
-
Genetic considerations in nonsyndromic midline craniosynostoses: A study of twins and their families
-
Lajeunie, E. et al. Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families. J. Neurosurg. 103 (suppl.), 353-356 (2005). (Pubitemid 44954890)
-
(2005)
Journal of Neurosurgery
, vol.103
, Issue.SUPPL. 4
, pp. 353-356
-
-
Lajeunie, E.1
Crimmins, D.W.2
Arnaud, E.3
Renier, D.4
-
16
-
-
0031963105
-
Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients
-
DOI 10.1002/(SICI)1096-8628(19980113)75:2<211::AID-AJMG19>3.0.CO;2- S
-
Lajeunie, E. et al. Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am. J. Med. Genet. 75, 211-215 (1998). (Pubitemid 28034504)
-
(1998)
American Journal of Medical Genetics
, vol.75
, Issue.2
, pp. 211-215
-
-
Lajeunie, E.1
Le Merrer, M.2
Marchac, D.3
Renier, D.4
-
17
-
-
0029879970
-
Genetic study of scaphocephaly
-
Lajeunie, E. et al. Genetic study of scaphocephaly. Am. J. Med. Genet. 62, 282-285 (1996).
-
(1996)
Am. J. Med. Genet
, vol.62
, pp. 282-285
-
-
Lajeunie, E.1
-
18
-
-
75449089291
-
Fetal constraint as a potential risk factor for craniosynostosis
-
Sanchez-Lara, P.A. et al. Fetal constraint as a potential risk factor for craniosynostosis. Am. J. Med. Genet. A 152A, 394-400 (2010).
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 394-400
-
-
Sanchez-Lara, P.A.1
-
19
-
-
0036716579
-
Genetic and environmental risk factors for sagittal craniosynostosis
-
Zeiger, J.S. et al. Genetic and environmental risk factors for sagittal craniosynostosis. J. Craniofac. Surg. 13, 602-606 (2002). (Pubitemid 36764235)
-
(2002)
Journal of Craniofacial Surgery
, vol.13
, Issue.5
, pp. 602-606
-
-
Zeiger, J.S.1
Beaty, T.H.2
Hetmanski, J.B.3
Wang, H.4
Scott, A.F.5
Kasch, L.6
Raymond, G.7
Jabs, E.W.8
VanderKolk, C.9
-
20
-
-
0031888582
-
Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis
-
DOI 10.1093/ije/27.1.64
-
Gardner, J.S. et al. Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis. Int. J. Epidemiol. 27, 64-67 (1998). (Pubitemid 28140504)
-
(1998)
International Journal of Epidemiology
, vol.27
, Issue.1
, pp. 64-67
-
-
Gardner, J.S.1
Guyard-Boileau, B.2
Alderman, B.W.3
Fernbach, S.K.4
Greene, C.5
Mangione, E.J.6
-
21
-
-
0344069730
-
Maternal smoking and craniosynostosis
-
DOI 10.1002/(SICI)1096-9926(199909)60:3<146::AID-TERA10>3.0.CO;2-3
-
Källén, K. Maternal smoking and craniosynostosis. Teratology 60, 146-150 (1999). (Pubitemid 29429918)
-
(1999)
Teratology
, vol.60
, Issue.3
, pp. 146-150
-
-
Kallen, K.1
-
23
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
DOI 10.1086/519795
-
Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007). (Pubitemid 47330214)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.3
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Maller, J.7
Sklar, P.8
De Bakker, P.I.W.9
Daly, M.J.10
Sham, P.C.11
-
24
-
-
0041857847
-
Pedigree disequilibrium tests for multilocus haplotypes
-
DOI 10.1002/gepi.10252
-
Dudbridge, F. Pedigree disequilibrium tests for multilocus haplotypes. Genet. Epidemiol. 25, 115-121 (2003). (Pubitemid 37064867)
-
(2003)
Genetic Epidemiology
, vol.25
, Issue.2
, pp. 115-121
-
-
Dudbridge, F.1
-
25
-
-
0036797562
-
Epistasis: What it means, what it doesn't mean, and statistical methods to detect it in humans
-
Cordell, H.J. Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum. Mol. Genet. 11, 2463-2468 (2002). (Pubitemid 35174710)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.20
, pp. 2463-2468
-
-
Cordell, H.J.1
-
26
-
-
62649155943
-
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
-
Browning, B.L. & Browning, S.R. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210-223 (2009).
-
(2009)
Am. J. Hum. Genet
, vol.84
, pp. 210-223
-
-
Browning, B.L.1
Browning, S.R.2
-
27
-
-
70649094222
-
BMP2 signaling in bone development and repair
-
Rosen, V. BMP2 signaling in bone development and repair. Cytokine Growth Factor Rev. 20, 475-480 (2009).
-
(2009)
Cytokine Growth Factor Rev
, vol.20
, pp. 475-480
-
-
Rosen, V.1
-
28
-
-
0027431005
-
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
-
DOI 10.1016/0092-8674(93)90379-5
-
Jabs, E.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). (Pubitemid 23335070)
-
(1993)
Cell
, vol.75
, Issue.3
, pp. 443-450
-
-
Jabs, E.W.1
Muller, U.2
Li, X.3
Ma, L.4
Luo, W.5
Haworth, I.S.6
Klisak, I.7
Sparkes, R.8
Warman, M.L.9
Mulliken, J.B.10
Snead, M.L.11
Maxson, R.12
-
29
-
-
27444447551
-
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP) [1]
-
DOI 10.1002/ajmg.a.30923
-
Spruijt, L. et al. A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). Am. J. Med. Genet. A 139, 45-47 (2005). (Pubitemid 41532939)
-
(2005)
American Journal of Medical Genetics
, vol.139
, Issue.1
, pp. 45-47
-
-
Spruijt, L.1
Verdyck, P.2
Van Hul, W.3
Wuyts, W.4
De Die-Smulders, C.5
-
30
-
-
0034074417
-
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
-
DOI 10.1038/74224
-
Wilkie, A.O. et al. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat. Genet. 24, 387-390 (2000). (Pubitemid 30187438)
-
(2000)
Nature Genetics
, vol.24
, Issue.4
, pp. 387-390
-
-
Wilkie, A.O.M.1
Tang, Z.2
Elanko, N.3
Walsh, S.4
Twigg, S.R.F.5
Hurst, J.A.6
Wall, S.A.7
Chrzanowska, K.H.8
Maxson Jr., R.E.9
-
31
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
DOI 10.1038/ng0197-36
-
Howard, T.D. et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat. Genet. 15, 36-41 (1997). (Pubitemid 27014947)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 36-41
-
-
Howard, T.D.1
Paznekas, W.A.2
Green, E.D.3
Chiang, L.C.4
Ma, N.5
De Luna, R.I.O.6
Delgado, C.G.7
Gonzalez-Ramos, M.8
Kline, A.D.9
Jabs, E.W.10
-
32
-
-
17944369777
-
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus
-
Stankiewicz, P. et al. Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. Am. J. Med. Genet. 103, 56-62 (2001).
-
(2001)
Am. J. Med. Genet
, vol.103
, pp. 56-62
-
-
Stankiewicz, P.1
-
33
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos, S. et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89, 773-779 (1997). (Pubitemid 27516180)
-
(1997)
Cell
, vol.89
, Issue.5
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.M.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
34
-
-
33645815089
-
Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects
-
Desai, J. et al. Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects. Hum. Mol. Genet. 15, 1329-1341 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1329-1341
-
-
Desai, J.1
-
35
-
-
77956014955
-
The role of NELL-1, a growth factor associated with craniosynostosis, in promoting bone regeneration
-
Zhang, X. et al. The role of NELL-1, a growth factor associated with craniosynostosis, in promoting bone regeneration. J. Dent. Res. 89, 865-878 (2010).
-
(2010)
J. Dent. Res
, vol.89
, pp. 865-878
-
-
Zhang, X.1
-
36
-
-
84869083654
-
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
-
published online doi:10.1002/humu.22166 24 July
-
Yagnik, G. et al. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum. Mutat. published online, doi:10.1002/humu.22166 (24 July 2012).
-
(2012)
Hum. Mutat
-
-
Yagnik, G.1
-
37
-
-
4243129131
-
Linkage of osteoporosis to chromosome 20p12 and association to BMP2
-
Styrkarsdottir, U. et al. Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol. 1, E69 (2003).
-
(2003)
PLoS Biol
, vol.1
-
-
Styrkarsdottir, U.1
-
38
-
-
64149103056
-
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
-
Dathe, K. et al. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am. J. Hum. Genet. 84, 483-492 (2009).
-
(2009)
Am. J. Hum. Genet
, vol.84
, pp. 483-492
-
-
Dathe, K.1
-
39
-
-
34249978500
-
Bardet-Biedl syndrome: Beyond the cilium
-
DOI 10.1007/s00467-007-0435-0
-
Tobin, J.L. & Beales, P.L. Bardet-Biedl syndrome: beyond the cilium. Pediatr. Nephrol. 22, 926-936 (2007). (Pubitemid 46881909)
-
(2007)
Pediatric Nephrology
, vol.22
, Issue.7
, pp. 926-936
-
-
Tobin, J.L.1
Beales, P.L.2
-
40
-
-
33746528106
-
Cilia tuning in to the cell's antenna
-
Marshall, W.F. & Nonaka, S. Cilia: tuning in to the cell's antenna. Curr. Biol. 16, R604-R614 (2006).
-
(2006)
Curr. Biol
, vol.16
-
-
Marshall, W.F.1
Nonaka, S.2
-
41
-
-
27144529532
-
PDGFRαα signaling is regulated through the primary cilium in fibroblasts
-
DOI 10.1016/j.cub.2005.09.012, PII S0960982205010365
-
Schneider, L. et al. PDGFRαα signaling is regulated through the primary cilium in fibroblasts. Curr. Biol. 15, 1861-1866 (2005). (Pubitemid 41501522)
-
(2005)
Current Biology
, vol.15
, Issue.20
, pp. 1861-1866
-
-
Schneider, L.1
Clement, C.A.2
Teilmann, S.C.3
Pazour, G.J.4
Hoffmann, E.K.5
Satir, P.6
Christensen, S.T.7
-
42
-
-
40749144679
-
Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function
-
Haycraft, C.J. et al. Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function. PLoS Genet. 1, e53 (2005).
-
(2005)
PLoS Genet
, vol.1
-
-
Haycraft, C.J.1
-
43
-
-
24344482068
-
PKD2 functions as an epidermal growth factor-activated plasma membrane channel
-
DOI 10.1128/MCB.25.18.8285-8298.2005
-
Ma, R. et al. PKD2 functions as an epidermal growth factor-activated plasma membrane channel. Mol. Cell. Biol. 25, 8285-8298 (2005). (Pubitemid 41263017)
-
(2005)
Molecular and Cellular Biology
, vol.25
, Issue.18
, pp. 8285-8298
-
-
Ma, R.1
Li, W.-P.2
Rundle, D.3
Kong, J.4
Akbarali, H.I.5
Tsiokas, L.6
-
44
-
-
0034725792
-
6 receptors at the plasma membrane of neuronal cilia in the rat brain
-
DOI 10.1016/S0006-8993(00)02519-1, PII S0006899300025191
-
Brailov, I. et al. Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain. Brain Res. 872, 271-275 (2000). (Pubitemid 30618919)
-
(2000)
Brain Research
, vol.872
, Issue.1-2
, pp. 271-275
-
-
Brailov, I.1
Bancila, M.2
Brisorgueil, M.-J.3
Miquel, M.-C.4
Hamon, M.5
Verge, D.6
-
45
-
-
34250009169
-
RAB23 mutations in carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity
-
DOI 10.1086/518047
-
Jenkins, D. et al. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am. J. Hum. Genet. 80, 1162-1170 (2007). (Pubitemid 47579351)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.6
, pp. 1162-1170
-
-
Jenkins, D.1
Seelow, D.2
Jehee, F.S.3
Perlyn, C.A.4
Alonso, L.G.5
Bueno, D.F.6
Donnai, D.7
Josifiova, D.8
Mathijssen, I.M.J.9
Morton, J.E.V.10
Orstavik, K.H.11
Sweeney, E.12
Wall, S.A.13
Marsh, J.L.14
Nurnberg, P.15
Passos-Bueno, M.R.16
Wilkie, A.O.M.17
-
46
-
-
33750723517
-
Hedgehog signaling in skeletal development
-
Ehlen, H.W., Buelens, L.A. & Vortkamp, A. Hedgehog signaling in skeletal development. Birth Defects Res. C Embryo Today 78, 267-279 (2006).
-
(2006)
Birth Defects Res. C Embryo Today
, vol.78
, pp. 267-279
-
-
Ehlen, H.W.1
Buelens, L.A.2
Vortkamp, A.3
-
47
-
-
0032930859
-
Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure
-
DOI 10.1038/8773
-
Miettinen, P.J. et al. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat. Genet. 22, 69-73 (1999). (Pubitemid 29214807)
-
(1999)
Nature Genetics
, vol.22
, Issue.1
, pp. 69-73
-
-
Miettinen, P.J.1
Chin, J.R.2
Shum, L.3
Slavkin, H.C.4
Shuler, C.F.5
Derynck, R.6
Werb, Z.7
-
48
-
-
6944220086
-
A specific requirement for PDGF-C in palate formation and PDGFR-α signaling
-
DOI 10.1038/ng1415
-
Ding, H. et al. A specific requirement for PDGF-C in palate formation and PDGFR-α signaling. Nat. Genet. 36, 1111-1116 (2004). (Pubitemid 41184474)
-
(2004)
Nature Genetics
, vol.36
, Issue.10
, pp. 1111-1116
-
-
Ding, H.1
Wu, X.2
Bostrom, H.3
Kim, I.4
Wong, N.5
Tsoi, B.6
O'Rourke, M.7
Koh, G.Y.8
Soriano, P.9
Betsholtz, C.10
Hart, T.C.11
Marazita, M.L.12
Field, L.L.13
Tam, P.P.L.14
Nagy, A.15
-
49
-
-
0030955863
-
5-HT2B receptor-mediated serotonin morphogenetic functions in mouse cranial neural crest and myocardiac cells
-
Choi, D.S. et al. 5-HT2B receptor-mediated serotonin morphogenetic functions in mouse cranial neural crest and myocardiac cells. Development 124, 1745-1755 (1997).
-
(1997)
Development
, vol.124
, pp. 1745-1755
-
-
Choi, D.S.1
-
50
-
-
63949088362
-
FGF signalling during embryo development regulates cilia length in diverse epithelia
-
Neugebauer, J.M. et al. FGF signalling during embryo development regulates cilia length in diverse epithelia. Nature 458, 651-654 (2009).
-
(2009)
Nature
, vol.458
, pp. 651-654
-
-
Neugebauer, J.M.1
-
51
-
-
85047697400
-
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
-
DOI 10.1038/sj/ejhg/5200797
-
Keen, T.J. et al. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur. J. Hum. Genet. 10, 245-249 (2002). (Pubitemid 34662092)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.4
, pp. 245-249
-
-
Keen, T.J.1
Hims, M.M.2
McKie, A.B.3
Moore, A.T.4
Doran, R.M.5
Mackey, D.A.6
Mansfield, D.C.7
Mueller, R.F.8
Bhattacharya, S.S.9
Bird, A.C.10
Markham, A.F.11
Inglehearn, C.F.12
-
52
-
-
0035383782
-
Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency
-
Marinaki, A.M. et al. Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency. Blood 97, 3327-3332 (2001).
-
(2001)
Blood
, vol.97
, pp. 3327-3332
-
-
Marinaki, A.M.1
-
53
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
DOI 10.1086/519795
-
Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007). (Pubitemid 47330214)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.3
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Maller, J.7
Sklar, P.8
De Bakker, P.I.W.9
Daly, M.J.10
Sham, P.C.11
-
54
-
-
84862249784
-
Folate and vitamin B12-related genes and risk for omphalocele
-
Mills, J.L. et al. Folate and vitamin B12-related genes and risk for omphalocele. Hum. Genet. 131, 739-746 (2012).
-
(2012)
Hum. Genet
, vol.131
, pp. 739-746
-
-
Mills, J.L.1
-
55
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
DOI 10.1093/bioinformatics/bth457
-
Barrett, J.C. et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005). (Pubitemid 40202029)
-
(2005)
Bioinformatics
, vol.21
, Issue.2
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
56
-
-
84866750913
-
Rapid testing of SNPs and gene-environment interactions in case-parent trio data based on exact analytic parameter estimation
-
Schwender, H. et al. Rapid testing of SNPs and gene-environment interactions in case-parent trio data based on exact analytic parameter estimation. Biometrics 68, 766-773 (2012).
-
(2012)
Biometrics
, vol.68
, pp. 766-773
-
-
Schwender, H.1
-
57
-
-
0033820941
-
Adaptation of the extended transmission/disequilibrium test to distinguish disease associations of multiple loci: The conditional extended transmission/disequilibrium test
-
Koeleman, B.P. et al. Adaptation of the extended transmission/ disequilibrium test to distinguish disease associations of multiple loci: the conditional extended transmission/disequilibrium test. Ann. Hum. Genet. 64, 207-213 (2000).
-
(2000)
Ann. Hum. Genet
, vol.64
, pp. 207-213
-
-
Koeleman, B.P.1
-
58
-
-
18144415857
-
Integrating case-control and TDT studies
-
DOI 10.1046/j.1529-8817.2005.00156.x
-
Kazeem, G.R. & Farrall, M. Integrating case-control and TDT studies. Ann. Hum. Genet. 69, 329-335 (2005). (Pubitemid 40613734)
-
(2005)
Annals of Human Genetics
, vol.69
, Issue.3
, pp. 329-335
-
-
Kazeem, G.R.1
Farrall, M.2
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