-
1
-
-
0024515683
-
Fryns syndrome: report on 8 new cases
-
Ayme S., Julian C., Gambarelli D., Mariotti B., Luciani A., Sudan N., et al. Fryns syndrome: report on 8 new cases. Clin. Genet. 35 (1989) 191-201
-
(1989)
Clin. Genet.
, vol.35
, pp. 191-201
-
-
Ayme, S.1
Julian, C.2
Gambarelli, D.3
Mariotti, B.4
Luciani, A.5
Sudan, N.6
-
2
-
-
39649124023
-
Array-based DNA diagnostics: let the revolution begin
-
Beaudet A.L., and Belmont J.W. Array-based DNA diagnostics: let the revolution begin. Annu. Rev. Med. 59 (2008) 113-129
-
(2008)
Annu. Rev. Med.
, vol.59
, pp. 113-129
-
-
Beaudet, A.L.1
Belmont, J.W.2
-
3
-
-
18444378418
-
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
-
Brice G., Mansour S., Bell R., Collin J.R., Child A.H., Brady A.F., et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J. Med. Genet. 39 (2002) 478-483
-
(2002)
J. Med. Genet.
, vol.39
, pp. 478-483
-
-
Brice, G.1
Mansour, S.2
Bell, R.3
Collin, J.R.4
Child, A.H.5
Brady, A.F.6
-
4
-
-
0036724491
-
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin
-
Brown D.J., Kim T.B., Petty E.M., Downs C.A., Martin D.M., Strouse P.J., et al. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am. J. Hum. Genet. 71 (2002) 618-624
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 618-624
-
-
Brown, D.J.1
Kim, T.B.2
Petty, E.M.3
Downs, C.A.4
Martin, D.M.5
Strouse, P.J.6
-
5
-
-
19444366179
-
Genetic players in esophageal atresia and tracheoesophageal fistula
-
Brunner H.G., and van Bokhoven H. Genetic players in esophageal atresia and tracheoesophageal fistula. Curr. Opin. Genet. Dev. 15 (2005) 341-347
-
(2005)
Curr. Opin. Genet. Dev.
, vol.15
, pp. 341-347
-
-
Brunner, H.G.1
van Bokhoven, H.2
-
6
-
-
33744524149
-
Regulation of early lung morphogenesis: questions, facts and controversies
-
Cardoso W.V., and Lu J. Regulation of early lung morphogenesis: questions, facts and controversies. Development 133 (2006) 1611-1624
-
(2006)
Development
, vol.133
, pp. 1611-1624
-
-
Cardoso, W.V.1
Lu, J.2
-
8
-
-
47149086948
-
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
-
Chappell L., Gorman S., Campbell F., Ellard S., Rice G., Dobbie A., et al. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am. J. Med. Genet. A 146A (2008) 1713-1717
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 1713-1717
-
-
Chappell, L.1
Gorman, S.2
Campbell, F.3
Ellard, S.4
Rice, G.5
Dobbie, A.6
-
9
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
-
Chiang C., Litingtung Y., Lee E., Young K.E., Corden J.L., Westphal H., et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383 (1996) 407-413
-
(1996)
Nature
, vol.383
, pp. 407-413
-
-
Chiang, C.1
Litingtung, Y.2
Lee, E.3
Young, K.E.4
Corden, J.L.5
Westphal, H.6
-
10
-
-
0032993107
-
Microdeletion 22q11 and oesophageal atresia
-
Digilio M.C., Marino B., Bagolan P., Giannotti A., and Dallapiccola B. Microdeletion 22q11 and oesophageal atresia. J. Med. Genet. 36 (1999) 137-139
-
(1999)
J. Med. Genet.
, vol.36
, pp. 137-139
-
-
Digilio, M.C.1
Marino, B.2
Bagolan, P.3
Giannotti, A.4
Dallapiccola, B.5
-
11
-
-
0033646615
-
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
-
Fang J., Dagenais S.L., Erickson R.P., Arlt M.F., Glynn M.W., Gorski J.L., et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am. J. Hum. Genet. 67 (2000) 1382-1388
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1382-1388
-
-
Fang, J.1
Dagenais, S.L.2
Erickson, R.P.3
Arlt, M.F.4
Glynn, M.W.5
Gorski, J.L.6
-
12
-
-
34248596548
-
Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula
-
Felix J.F., Tibboel D., and de Klein A. Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. Eur. J. Med. Genet. 50 (2007) 163-175
-
(2007)
Eur. J. Med. Genet.
, vol.50
, pp. 163-175
-
-
Felix, J.F.1
Tibboel, D.2
de Klein, A.3
-
13
-
-
4444378766
-
Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain
-
Ferri A.L., Cavallaro M., Braida D., Di Cristofano A., Canta A., Vezzani A., et al. Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development 131 (2004) 3805-3819
-
(2004)
Development
, vol.131
, pp. 3805-3819
-
-
Ferri, A.L.1
Cavallaro, M.2
Braida, D.3
Di Cristofano, A.4
Canta, A.5
Vezzani, A.6
-
14
-
-
32144453649
-
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
-
Fischer S., Ludecke H.J., Wieczorek D., Bohringer S., Gillessen-Kaesbach G., and Horsthemke B. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum. Mol. Genet. 15 (2006) 581-587
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 581-587
-
-
Fischer, S.1
Ludecke, H.J.2
Wieczorek, D.3
Bohringer, S.4
Gillessen-Kaesbach, G.5
Horsthemke, B.6
-
15
-
-
33746358497
-
Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13
-
Garcia N.M., Allgood J., Santos L.J., Lonergan D., Batanian J.R., Henkemeyer M., et al. Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13. J. Pediatr. Urol. 2 (2006) 233-242
-
(2006)
J. Pediatr. Urol.
, vol.2
, pp. 233-242
-
-
Garcia, N.M.1
Allgood, J.2
Santos, L.J.3
Lonergan, D.4
Batanian, J.R.5
Henkemeyer, M.6
-
16
-
-
34248348759
-
An overview of isolated and syndromic oesophageal atresia
-
Genevieve D., de Pontual L., Amiel J., Sarnacki S., and Lyonnet S. An overview of isolated and syndromic oesophageal atresia. Clin. Genet. 71 (2007) 392-399
-
(2007)
Clin. Genet.
, vol.71
, pp. 392-399
-
-
Genevieve, D.1
de Pontual, L.2
Amiel, J.3
Sarnacki, S.4
Lyonnet, S.5
-
17
-
-
0033052269
-
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
-
Gong Y., Krakow D., Marcelino J., Wilkin D., Chitayat D., Babul-Hirji R., et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat. Genet. 21 (1999) 302-304
-
(1999)
Nat. Genet.
, vol.21
, pp. 302-304
-
-
Gong, Y.1
Krakow, D.2
Marcelino, J.3
Wilkin, D.4
Chitayat, D.5
Babul-Hirji, R.6
-
18
-
-
33749252180
-
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
-
Holden S.T., Cox J.J., Kesterton I., Thomas N.S., Carr C., and Woods C.G. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J. Med. Genet. 43 (2006) 750-754
-
(2006)
J. Med. Genet.
, vol.43
, pp. 750-754
-
-
Holden, S.T.1
Cox, J.J.2
Kesterton, I.3
Thomas, N.S.4
Carr, C.5
Woods, C.G.6
-
19
-
-
0030696897
-
Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis
-
Iida K., Koseki H., Kakinuma H., Kato N., Mizutani-Koseki Y., Ohuchi H., et al. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124 (1997) 4627-4638
-
(1997)
Development
, vol.124
, pp. 4627-4638
-
-
Iida, K.1
Koseki, H.2
Kakinuma, H.3
Kato, N.4
Mizutani-Koseki, Y.5
Ohuchi, H.6
-
20
-
-
20144387269
-
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
-
Johnston J.J., Olivos-Glander I., Killoran C., Elson E., Turner J.T., Peters K.F., et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am. J. Hum. Genet. 76 (2005) 609-622
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 609-622
-
-
Johnston, J.J.1
Olivos-Glander, I.2
Killoran, C.3
Elson, E.4
Turner, J.T.5
Peters, K.F.6
-
21
-
-
33645781251
-
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
-
Jongmans M.C., Admiraal R.J., van der Donk K.P., Vissers L.E., Baas A.F., Kapusta L., et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 43 (2006) 306-314
-
(2006)
J. Med. Genet.
, vol.43
, pp. 306-314
-
-
Jongmans, M.C.1
Admiraal, R.J.2
van der Donk, K.P.3
Vissers, L.E.4
Baas, A.F.5
Kapusta, L.6
-
22
-
-
0035879135
-
Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor
-
Kalinichenko V.V., Lim L., Stolz D.B., Shin B., Rausa F.M., Clark J., et al. Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor. Dev. Biol. 235 (2001) 489-506
-
(2001)
Dev. Biol.
, vol.235
, pp. 489-506
-
-
Kalinichenko, V.V.1
Lim, L.2
Stolz, D.B.3
Shin, B.4
Rausa, F.M.5
Clark, J.6
-
23
-
-
0037023789
-
Haploinsufficiency of the mouse Forkhead Box f1 gene causes defects in gall bladder development
-
Kalinichenko V.V., Zhou Y., Bhattacharyya D., Kim W., Shin B., Bambal K., et al. Haploinsufficiency of the mouse Forkhead Box f1 gene causes defects in gall bladder development. J. Biol. Chem. 277 (2002) 12369-12374
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 12369-12374
-
-
Kalinichenko, V.V.1
Zhou, Y.2
Bhattacharyya, D.3
Kim, W.4
Shin, B.5
Bambal, K.6
-
24
-
-
66849135271
-
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter
-
Kirchhoff M., Bisgaard A.M., Stoeva R., Dimitrov B., Gillessen-Kaesbach G., Fryns J.P., et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am. J. Med. Genet. A 149A (2009) 894-905
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 894-905
-
-
Kirchhoff, M.1
Bisgaard, A.M.2
Stoeva, R.3
Dimitrov, B.4
Gillessen-Kaesbach, G.5
Fryns, J.P.6
-
25
-
-
54049142123
-
Cytogenetic technology - genotype and phenotype
-
Ledbetter D.H. Cytogenetic technology - genotype and phenotype. N. Engl. J. Med. 359 (2008) 1728-1730
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 1728-1730
-
-
Ledbetter, D.H.1
-
26
-
-
34547753518
-
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN
-
Lehmann K., Seemann P., Silan F., Goecke T.O., Irgang S., Kjaer K.W., et al. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am. J. Hum. Genet. 81 (2007) 388-396
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 388-396
-
-
Lehmann, K.1
Seemann, P.2
Silan, F.3
Goecke, T.O.4
Irgang, S.5
Kjaer, K.W.6
-
27
-
-
33947430985
-
Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia
-
Li Y., Litingtung Y., Ten Dijke P., and Chiang C. Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia. Dev. Dyn. 236 (2007) 746-754
-
(2007)
Dev. Dyn.
, vol.236
, pp. 746-754
-
-
Li, Y.1
Litingtung, Y.2
Ten Dijke, P.3
Chiang, C.4
-
30
-
-
0032567995
-
VACTERL with hydrocephalus: family with X-linked VACTERL-H
-
Lomas F.E., Dahlstrom J.E., and Ford J.H. VACTERL with hydrocephalus: family with X-linked VACTERL-H. Am. J. Med. Genet. 76 (1998) 74-78
-
(1998)
Am. J. Med. Genet.
, vol.76
, pp. 74-78
-
-
Lomas, F.E.1
Dahlstrom, J.E.2
Ford, J.H.3
-
31
-
-
0028905401
-
'Microgastria-limb reduction' complex with congenital heart disease and twinning
-
Lurie I.W., Magee C.A., Sun C.C., and Ferencz C. 'Microgastria-limb reduction' complex with congenital heart disease and twinning. Clin. Dysmorphol. 4 (1995) 150-155
-
(1995)
Clin. Dysmorphol.
, vol.4
, pp. 150-155
-
-
Lurie, I.W.1
Magee, C.A.2
Sun, C.C.3
Ferencz, C.4
-
32
-
-
65549099669
-
FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine
-
Madison B.B., McKenna L.B., Dolson D., Epstein D.J., and Kaestner K.H. FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine. J. Biol. Chem. 284 (2009) 5936-5944
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 5936-5944
-
-
Madison, B.B.1
McKenna, L.B.2
Dolson, D.3
Epstein, D.J.4
Kaestner, K.H.5
-
33
-
-
33846834049
-
Transcriptional control of lung morphogenesis
-
Maeda Y., Dave V., and Whitsett J.A. Transcriptional control of lung morphogenesis. Physiol. Rev. 87 (2007) 219-244
-
(2007)
Physiol. Rev.
, vol.87
, pp. 219-244
-
-
Maeda, Y.1
Dave, V.2
Whitsett, J.A.3
-
34
-
-
0035146670
-
The forkhead transcription factor Foxf1 is required for differentiation of extra-embryonic and lateral plate mesoderm
-
Mahlapuu M., Ormestad M., Enerback S., and Carlsson P. The forkhead transcription factor Foxf1 is required for differentiation of extra-embryonic and lateral plate mesoderm. Development 128 (2001) 155-166
-
(2001)
Development
, vol.128
, pp. 155-166
-
-
Mahlapuu, M.1
Ormestad, M.2
Enerback, S.3
Carlsson, P.4
-
35
-
-
0034945359
-
Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations
-
Mahlapuu M., Enerback S., and Carlsson P. Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations. Development 128 (2001) 2397-2406
-
(2001)
Development
, vol.128
, pp. 2397-2406
-
-
Mahlapuu, M.1
Enerback, S.2
Carlsson, P.3
-
36
-
-
0033828701
-
Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia
-
Marsh A.J., Wellesley D., Burge D., Ashton M., Browne C., Dennis N.R., et al. Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. J. Med. Genet. 37 (2000) 701-704
-
(2000)
J. Med. Genet.
, vol.37
, pp. 701-704
-
-
Marsh, A.J.1
Wellesley, D.2
Burge, D.3
Ashton, M.4
Browne, C.5
Dennis, N.R.6
-
37
-
-
66149110967
-
The role of the visceral mesoderm in the development of the gastrointestinal tract
-
McLin V.A., Henning S.J., and Jamrich M. The role of the visceral mesoderm in the development of the gastrointestinal tract. Gastroenterology 136 (2009) 2074-2091
-
(2009)
Gastroenterology
, vol.136
, pp. 2074-2091
-
-
McLin, V.A.1
Henning, S.J.2
Jamrich, M.3
-
38
-
-
10944239213
-
X-linked inheritance of Fanconi anemia complementation group B
-
Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., et al. X-linked inheritance of Fanconi anemia complementation group B. Nat. Genet. 36 (2004) 1219-1224
-
(2004)
Nat. Genet.
, vol.36
, pp. 1219-1224
-
-
Meetei, A.R.1
Levitus, M.2
Xue, Y.3
Medhurst, A.L.4
Zwaan, M.5
Ling, C.6
-
39
-
-
0031683165
-
Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus
-
Motoyama J., Liu J., Mo R., Ding Q., Post M., and Hui C.C. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat. Genet. 20 (1998) 54-57
-
(1998)
Nat. Genet.
, vol.20
, pp. 54-57
-
-
Motoyama, J.1
Liu, J.2
Mo, R.3
Ding, Q.4
Post, M.5
Hui, C.C.6
-
40
-
-
0032732443
-
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
-
Nanni L., Ming J.E., Bocian M., Steinhaus K., Bianchi D.W., Die-Smulders C., et al. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum. Mol. Genet. 8 (1999) 2479-2488
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2479-2488
-
-
Nanni, L.1
Ming, J.E.2
Bocian, M.3
Steinhaus, K.4
Bianchi, D.W.5
Die-Smulders, C.6
-
41
-
-
58149121088
-
5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss
-
Puusepp H., Zilina O., Teek R., Mannik K., Parkel S., Kruustuk K., et al. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. Eur. J. Med. Genet. 52 (2009) 71-74
-
(2009)
Eur. J. Med. Genet.
, vol.52
, pp. 71-74
-
-
Puusepp, H.1
Zilina, O.2
Teek, R.3
Mannik, K.4
Parkel, S.5
Kruustuk, K.6
-
42
-
-
16944365777
-
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
-
Quaderi N.A., Schweiger S., Gaudenz K., Franco B., Rugarli E.I., Berger W., et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat. Genet. 17 (1997) 285-291
-
(1997)
Nat. Genet.
, vol.17
, pp. 285-291
-
-
Quaderi, N.A.1
Schweiger, S.2
Gaudenz, K.3
Franco, B.4
Rugarli, E.I.5
Berger, W.6
-
43
-
-
33747065208
-
Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps
-
Que J., Choi M., Ziel J.W., Klingensmith J., and Hogan B.L. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation 74 (2006) 422-437
-
(2006)
Differentiation
, vol.74
, pp. 422-437
-
-
Que, J.1
Choi, M.2
Ziel, J.W.3
Klingensmith, J.4
Hogan, B.L.5
-
44
-
-
34447530782
-
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm
-
Que J., Okubo T., Goldenring J.R., Nam K.T., Kurotani R., Morrisey E.E., et al. Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. Development 134 (2007) 2521-2531
-
(2007)
Development
, vol.134
, pp. 2521-2531
-
-
Que, J.1
Okubo, T.2
Goldenring, J.R.3
Nam, K.T.4
Kurotani, R.5
Morrisey, E.E.6
-
45
-
-
58149119492
-
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress
-
Quelin C., Bendavid C., Dubourg C., de la Rochebrochard C., Lucas J., Henry C., et al. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur. J. Med. Genet. 52 (2009) 41-46
-
(2009)
Eur. J. Med. Genet.
, vol.52
, pp. 41-46
-
-
Quelin, C.1
Bendavid, C.2
Dubourg, C.3
de la Rochebrochard, C.4
Lucas, J.5
Henry, C.6
-
46
-
-
0033916281
-
Hedgehog signals regulate multiple aspects of gastrointestinal development
-
Ramalho-Santos M., Melton D.A., and McMahon A.P. Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127 (2000) 2763-2772
-
(2000)
Development
, vol.127
, pp. 2763-2772
-
-
Ramalho-Santos, M.1
Melton, D.A.2
McMahon, A.P.3
-
47
-
-
0344392285
-
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
-
Roessler E., Du Y.Z., Mullor J.L., Casas E., Allen W.P., Gillessen-Kaesbach G., et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc. Natl. Acad. Sci. U.S.A. 100 (2003) 13424-13429
-
(2003)
Proc. Natl. Acad. Sci. U.S.A.
, vol.100
, pp. 13424-13429
-
-
Roessler, E.1
Du, Y.Z.2
Mullor, J.L.3
Casas, E.4
Allen, W.P.5
Gillessen-Kaesbach, G.6
-
48
-
-
0037221992
-
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia
-
Schimmenti L.A., de la Cruz J., Lewis R.A., Karkera J.D., Manligas G.S., Roessler E., et al. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am. J. Med. Genet. A 116A (2003) 215-221
-
(2003)
Am. J. Med. Genet. A
, vol.116 A
, pp. 215-221
-
-
Schimmenti, L.A.1
de la Cruz, J.2
Lewis, R.A.3
Karkera, J.D.4
Manligas, G.S.5
Roessler, E.6
-
49
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C., Redon R., Rickman L., Rio M., Willatt L., Fiegler H., et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41 (2004) 241-248
-
(2004)
J. Med. Genet.
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
Fiegler, H.6
-
50
-
-
33745906255
-
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
-
Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J. Med. Genet. 43 (2006) 545-554
-
(2006)
J. Med. Genet.
, vol.43
, pp. 545-554
-
-
Shaw-Smith, C.1
-
51
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek A.M., Stone E.M., Mykytyn K., Heckenlively J.R., Green J.S., Heon E., et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nat. Genet. 26 (2000) 15-16
-
(2000)
Nat. Genet.
, vol.26
, pp. 15-16
-
-
Slavotinek, A.M.1
Stone, E.M.2
Mykytyn, K.3
Heckenlively, J.R.4
Green, J.S.5
Heon, E.6
-
52
-
-
71949099047
-
Genomic and Genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
-
Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., et al. Genomic and Genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am. J. Hum. Genet. (2009)
-
(2009)
Am. J. Hum. Genet.
-
-
Stankiewicz, P.1
Sen, P.2
Bhatt, S.S.3
Storer, M.4
Xia, Z.5
Bejjani, B.A.6
-
53
-
-
0034019637
-
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
-
Stone D.L., Slavotinek A., Bouffard G.G., Banerjee-Basu S., Baxevanis A.D., Barr M., et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat. Genet. 25 (2000) 79-82
-
(2000)
Nat. Genet.
, vol.25
, pp. 79-82
-
-
Stone, D.L.1
Slavotinek, A.2
Bouffard, G.G.3
Banerjee-Basu, S.4
Baxevanis, A.D.5
Barr, M.6
-
54
-
-
33745798204
-
Foxl1-deficient mice exhibit aberrant epithelial cell positioning resulting from dysregulated EphB/EphrinB expression in the small intestine
-
Takano-Maruyama M., Hase K., Fukamachi H., Kato Y., Koseki H., and Ohno H. Foxl1-deficient mice exhibit aberrant epithelial cell positioning resulting from dysregulated EphB/EphrinB expression in the small intestine. Am. J. Physiol. Gastrointest. Liver Physiol. 291 (2006) G163-G170
-
(2006)
Am. J. Physiol. Gastrointest. Liver Physiol.
, vol.291
-
-
Takano-Maruyama, M.1
Hase, K.2
Fukamachi, H.3
Kato, Y.4
Koseki, H.5
Ohno, H.6
-
55
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41 (2009) 535-543
-
(2009)
Nat. Genet.
, vol.41
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
Hardy, C.6
-
56
-
-
4444309406
-
Function and regulation of FoxF1 during Xenopus gut development
-
Tseng H.T., Shah R., and Jamrich M. Function and regulation of FoxF1 during Xenopus gut development. Development 131 (2004) 3637-3647
-
(2004)
Development
, vol.131
, pp. 3637-3647
-
-
Tseng, H.T.1
Shah, R.2
Jamrich, M.3
-
57
-
-
35948932253
-
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype
-
Van de Laar I., Dooijes D., Hoefsloot L., Simon M., Hoogeboom J., and Devriendt K. Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am. J. Med. Genet. A 143A (2007) 2712-2715
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 2712-2715
-
-
Van de Laar, I.1
Dooijes, D.2
Hoefsloot, L.3
Simon, M.4
Hoogeboom, J.5
Devriendt, K.6
-
58
-
-
0035863626
-
Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications
-
Walsh L.E., Vance G.H., and Weaver D.D. Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. Am. J. Med. Genet. 98 (2001) 137-144
-
(2001)
Am. J. Med. Genet.
, vol.98
, pp. 137-144
-
-
Walsh, L.E.1
Vance, G.H.2
Weaver, D.D.3
-
59
-
-
33646162880
-
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
-
Williamson K.A., Hever A.M., Rainger J., Rogers R.C., Magee A., Fiedler Z., et al. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum. Mol. Genet. 15 (2006) 1413-1422
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1413-1422
-
-
Williamson, K.A.1
Hever, A.M.2
Rainger, J.3
Rogers, R.C.4
Magee, A.5
Fiedler, Z.6
-
60
-
-
44849135766
-
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
-
D. Szumska, G. Pieles, R. Essalmani, M. Bilski, D. Mesnard, K. Kaur, et al. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. Genes Dev. 22 (2008) 1465-1477.
-
(2008)
Genes Dev
, vol.22
, pp. 1465-1477
-
-
Szumska, D.1
Pieles, G.2
Essalmani, R.3
Bilski, M.4
Mesnard, D.5
Kaur, K.6
|