-
2
-
-
0020539602
-
Holoprosencephaly in infants of diabetic mothers
-
Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN. 1983. Holoprosencephaly in infants of diabetic mothers. J Pediatr 102: 565- 568.
-
(1983)
J Pediatr
, vol.102
, pp. 565-568
-
-
Barr Jr, M.1
Hanson, J.W.2
Currey, K.3
Sharp, S.4
Toriello, H.5
Schmickel, R.D.6
Wilson, G.N.7
-
3
-
-
16144368562
-
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
-
Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. 1996. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14: 353- 356.
-
(1996)
Nat Genet
, vol.14
, pp. 353-356
-
-
Belloni, E.1
Muenke, M.2
Roessler, E.3
Traverso, G.4
Siegel-Bartelt, J.5
Frumkin, A.6
Mitchell, H.F.7
Donis-Keller, H.8
Helms, C.9
Hing, A.V.10
Heng, H.H.11
Koop, B.12
Martindale, D.13
Rommens, J.M.14
Tsui, L.C.15
Scherer, S.W.16
-
4
-
-
0018822364
-
Cyclopia and other anomalies following maternal ingestion of salicylates
-
Benawra R, Mangurten HH, Duffell DR. 1980. Cyclopia and other anomalies following maternal ingestion of salicylates. J Pediatr 96: 1069- 1071.
-
(1980)
J Pediatr
, vol.96
, pp. 1069-1071
-
-
Benawra, R.1
Mangurten, H.H.2
Duffell, D.R.3
-
5
-
-
67749097722
-
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci
-
Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V. 2009. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci. Hum Mutat 30: 1175- 1182.
-
(2009)
Hum Mutat
, vol.30
, pp. 1175-1182
-
-
Bendavid, C.1
Rochard, L.2
Dubourg, C.3
Seguin, J.4
Gicquel, I.5
Pasquier, L.6
Vigneron, J.7
Laquerrière, A.8
Marcorelles, P.9
Jeanne-Pasquier, C.10
Rouleau, C.11
Jaillard, S.12
Mosser, J.13
Odent, S.14
David, V.15
-
6
-
-
0025110209
-
Holoprosencephaly as a possible embryonic alcohol effect: Another observation
-
Bonnemann C, Meinecke P. 1990. Holoprosencephaly as a possible embryonic alcohol effect: Another observation. Am J Med Genet 37: 431- 432.
-
(1990)
Am J Med Genet
, vol.37
, pp. 431-432
-
-
Bonnemann, C.1
Meinecke, P.2
-
7
-
-
0024351709
-
Congenital malformations in aborigines and non-aborigines in Western Australia, 1980-1987
-
Bower C, Forbes R, Seward M, Stanley F. 1989. Congenital malformations in aborigines and non-aborigines in Western Australia, 1980-1987. Med J Aust 151: 245- 248.
-
(1989)
Med J Aust
, vol.151
, pp. 245-248
-
-
Bower, C.1
Forbes, R.2
Seward, M.3
Stanley, F.4
-
8
-
-
0031694448
-
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
-
Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M. 1998. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 20: 180- 183.
-
(1998)
Nat Genet
, vol.20
, pp. 180-183
-
-
Brown, S.A.1
Warburton, D.2
Brown, L.Y.3
Yu, C.Y.4
Roeder, E.R.5
Stengel-Rutkowski, S.6
Hennekam, R.C.7
Muenke, M.8
-
9
-
-
0035339735
-
Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England
-
Bullen PJ, Rankin JM, Robson SC. 2001. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol 184: 1256- 1262.
-
(2001)
Am J Obstet Gynecol
, vol.184
, pp. 1256-1262
-
-
Bullen, P.J.1
Rankin, J.M.2
Robson, S.C.3
-
10
-
-
0023241662
-
Cyclopia and congenital cytomegalovirus infection
-
Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK. 1987. Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28: 61- 65.
-
(1987)
Am J Med Genet
, vol.28
, pp. 61-65
-
-
Byrne, P.J.1
Silver, M.M.2
Gilbert, J.M.3
Cadera, W.4
Tanswell, A.K.5
-
11
-
-
16444376789
-
A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly
-
Chen CP, Chern SR, Lin CJ, Lee CC, Wang W, Tzen CY. 2005. A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly. Genet Couns 16: 49- 57.
-
(2005)
Genet Couns
, vol.16
, pp. 49-57
-
-
Chen, C.P.1
Chern, S.R.2
Lin, C.J.3
Lee, C.C.4
Wang, W.5
Tzen, C.Y.6
-
12
-
-
0029838858
-
Holoprosencephaly: Epidemiologic and clinical characteristics of a California population
-
Croen LA, Shaw GM, Lammer EJ. 1996. Holoprosencephaly: Epidemiologic and clinical characteristics of a California population. Am J Med Genet 64: 465- 472.
-
(1996)
Am J Med Genet
, vol.64
, pp. 465-472
-
-
Croen, L.A.1
Shaw, G.M.2
Lammer, E.J.3
-
13
-
-
0033950129
-
Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study
-
Croen LA, Shaw GM, Lammer EJ. 2000. Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study. Am J Med Genet 90: 320- 325.
-
(2000)
Am J Med Genet
, vol.90
, pp. 320-325
-
-
Croen, L.A.1
Shaw, G.M.2
Lammer, E.J.3
-
14
-
-
0036590111
-
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
-
de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M. 2002. A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet 110: 422- 428.
-
(2002)
Hum Genet
, vol.110
, pp. 422-428
-
-
de la Cruz, J.M.1
Bamford, R.N.2
Burdine, R.D.3
Roessler, E.4
Barkovich, A.J.5
Donnai, D.6
Schier, A.F.7
Muenke, M.8
-
15
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 38: 145- 150.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
de Vries, B.B.1
White, S.M.2
Knight, S.J.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
16
-
-
75449134513
-
Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: Clinical, electroencephalographic, and nosologic considerations
-
DeMyer W, Zeman W. 1963. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: Clinical, electroencephalographic, and nosologic considerations. Confin Neurol 23: 1- 36.
-
(1963)
Confin Neurol
, vol.23
, pp. 1-36
-
-
DeMyer, W.1
Zeman, W.2
-
17
-
-
0033955719
-
Epidemiology of holoprosencephaly in Hawaii, 1986-1997
-
Forrester MB, Merz RD. 2000. Epidemiology of holoprosencephaly in Hawaii, 1986-1997. Paediatr Perinat Epidemiol 14: 61- 63.
-
(2000)
Paediatr Perinat Epidemiol
, vol.14
, pp. 61-63
-
-
Forrester, M.B.1
Merz, R.D.2
-
18
-
-
0032745952
-
Towards a greater understanding of the pathogenesis of holoprosencephaly
-
Golden J. 1999. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev 21: 513- 521.
-
(1999)
Brain Dev
, vol.21
, pp. 513-521
-
-
Golden, J.1
-
19
-
-
16744368142
-
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
-
Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ. 2000. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 25: 205- 208.
-
(2000)
Nat Genet
, vol.25
, pp. 205-208
-
-
Gripp, K.W.1
Wotton, D.2
Edwards, M.C.3
Roessler, E.4
Ades, L.5
Meinecke, P.6
Richieri-Costa, A.7
Zackai, E.H.8
Massagué, J.9
Muenke, M.10
Elledge, S.J.11
-
20
-
-
0028226647
-
Holoprosencephaly and the teratogenicity of anticonvulsants
-
Holmes LB, Harvey EA. 1994. Holoprosencephaly and the teratogenicity of anticonvulsants. Teratology 49: 82.
-
(1994)
Teratology
, vol.49
, pp. 82
-
-
Holmes, L.B.1
Harvey, E.A.2
-
21
-
-
0019521757
-
Holoprosencephaly and agenesis of the corpus callosum: Frequency of associated malformations
-
Jellinger K, Gross H, Kaltenback E, Grisold W. 1981. Holoprosencephaly and agenesis of the corpus callosum: Frequency of associated malformations. Acta Neuropathol 55: 1- 10.
-
(1981)
Acta Neuropathol
, vol.55
, pp. 1-10
-
-
Jellinger, K.1
Gross, H.2
Kaltenback, E.3
Grisold, W.4
-
22
-
-
76149131370
-
Non-genetic risk factors for holoprosencephaly
-
Johnson CY, Rasmussen SA. 2010. Non-genetic risk factors for holoprosencephaly. Am J Med Genet Part C 154C: 73- 85.
-
(2010)
Am J Med Genet Part C
, vol.154 C
, pp. 73-85
-
-
Johnson, C.Y.1
Rasmussen, S.A.2
-
24
-
-
23244435720
-
A case of holoprosencephaly and cebocephaly associated to torch infection
-
Kilic N, Yazici Z. 2005. A case of holoprosencephaly and cebocephaly associated to torch infection. Int J Pediatr Otorhinolaryngol 69: 1275- 1278.
-
(2005)
Int J Pediatr Otorhinolaryngol
, vol.69
, pp. 1275-1278
-
-
Kilic, N.1
Yazici, Z.2
-
25
-
-
0027324366
-
Hydantoin syndrome with holoprosencephaly: A possible rare teratogenic effect
-
Kotzot D, Weigl J, Huk W, Rott HD. 1993. Hydantoin syndrome with holoprosencephaly: A possible rare teratogenic effect. Teratology 48: 15- 19.
-
(1993)
Teratology
, vol.48
, pp. 15-19
-
-
Kotzot, D.1
Weigl, J.2
Huk, W.3
Rott, H.D.4
-
26
-
-
0022260109
-
Retinoic acid embryopathy
-
Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW Jr, Lott IT, Richard JM, Sun SC. 1985. Retinoic acid embryopathy. N Engl J Med 313: 837- 841.
-
(1985)
N Engl J Med
, vol.313
, pp. 837-841
-
-
Lammer, E.J.1
Chen, D.T.2
Hoar, R.M.3
Agnish, N.D.4
Benke, P.J.5
Braun, J.T.6
Curry, C.J.7
Fernhoff, P.M.8
Grix Jr, A.W.9
Lott, I.T.10
Richard, J.M.11
Sun, S.C.12
-
27
-
-
50249169215
-
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations
-
Leoncini E, Baranello G, Orioli IM, Anneren G, Bakker M, Bianchi F, Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, De Vigan C, Doray B, Feldkamp ML, Gatt M, Irgens LM, Lowry RB, Maraschini A, McDonnell R, Morgan M, Mutchinick O, Poetzsch S, Riley M, Ritvanen A, Gnansia ER, Scarano G, Sipek A, Tenconi R, Mastroiacovo P. 2008. Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations. Birth Defects Res A Clin Mol Teratol 82: 585- 591.
-
(2008)
Birth Defects Res A Clin Mol Teratol
, vol.82
, pp. 585-591
-
-
Leoncini, E.1
Baranello, G.2
Orioli, I.M.3
Anneren, G.4
Bakker, M.5
Bianchi, F.6
Bower, C.7
Canfield, M.A.8
Castilla, E.E.9
Cocchi, G.10
Correa, A.11
De Vigan, C.12
Doray, B.13
Feldkamp, M.L.14
Gatt, M.15
Irgens, L.M.16
Lowry, R.B.17
Maraschini, A.18
McDonnell, R.19
Morgan, M.20
Mutchinick, O.21
Poetzsch, S.22
Riley, M.23
Ritvanen, A.24
Gnansia, E.R.25
Scarano, G.26
Sipek, A.27
Tenconi, R.28
Mastroiacovo, P.29
more..
-
28
-
-
0022872821
-
Congenital anomalies in American Indians of British Columbia
-
Lowry RB, Thunem NY, Silver M. 1986. Congenital anomalies in American Indians of British Columbia. Genet Epidemiol 3: 455- 467.
-
(1986)
Genet Epidemiol
, vol.3
, pp. 455-467
-
-
Lowry, R.B.1
Thunem, N.Y.2
Silver, M.3
-
30
-
-
0027940618
-
Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis
-
Martínez-Frías ML, Bermejo E, García A, Galán E, Prieto L. 1994. Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis. Am J Med Genet 53: 46- 51.
-
(1994)
Am J Med Genet
, vol.53
, pp. 46-51
-
-
Martínez-Frías, M.L.1
Bermejo, E.2
García, A.3
Galán, E.4
Prieto, L.5
-
31
-
-
84858996642
-
-
Epidemiological and genetic study of holoprosencephaly in 106 cases observed in the Italian Multicentric Registry 1978-1989. In Proceedings of the First International Meeting of the Genetic and Reproductive Epidemiology Research Society.
-
Mastroiacovo P, Cavalcanti DP, Zampino G, Serafini MA. 1992. Epidemiological and genetic study of holoprosencephaly in 106 cases observed in the Italian Multicentric Registry 1978-1989. In Proceedings of the First International Meeting of the Genetic and Reproductive Epidemiology Research Society. pp. 71- 82.
-
(1992)
, pp. 71-82
-
-
Mastroiacovo, P.1
Cavalcanti, D.P.2
Zampino, G.3
Serafini, M.A.4
-
32
-
-
0017741766
-
Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases
-
Matsunaga E, Shiota K. 1977. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16: 261- 272.
-
(1977)
Teratology
, vol.16
, pp. 261-272
-
-
Matsunaga, E.1
Shiota, K.2
-
33
-
-
76149131371
-
Risk factors for nonsyndromic holoprosencephaly in the National Birth Defects Prevention Study
-
and the National Birth Defects Prevention Study.
-
Miller E, Rasmussen S, Siega-Riz A, Frias J, Honein M. and the National Birth Defects Prevention Study. 2010. Risk factors for nonsyndromic holoprosencephaly in the National Birth Defects Prevention Study. Am J Med Genet Part C 154C: 62- 72.
-
(2010)
Am J Med Genet Part C
, vol.154 C
, pp. 62-72
-
-
Miller, E.1
Rasmussen, S.2
Siega-Riz, A.3
Frias, J.4
Honein, M.5
-
34
-
-
0036556309
-
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
-
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. 2002. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 110: 297- 301.
-
(2002)
Hum Genet
, vol.110
, pp. 297-301
-
-
Ming, J.E.1
Kaupas, M.E.2
Roessler, E.3
Brunner, H.G.4
Golabi, M.5
Tekin, M.6
Stratton, R.F.7
Sujansky, E.8
Bale, S.J.9
Muenke, M.10
-
36
-
-
0030734649
-
Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989
-
Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. 1997. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet 73: 217- 226.
-
(1997)
Am J Med Genet
, vol.73
, pp. 217-226
-
-
Olsen, C.L.1
Hughes, J.P.2
Youngblood, L.G.3
Sharpe-Stimac, M.4
-
37
-
-
34247139663
-
An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004
-
Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD. 2007. An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004. Prenat Diagn 27: 340- 347.
-
(2007)
Prenat Diagn
, vol.27
, pp. 340-347
-
-
Ong, S.1
Tonks, A.2
Woodward, E.R.3
Wyldes, M.P.4
Kilby, M.D.5
-
38
-
-
37249011845
-
Clinical epidemiologic study of holoprosencephaly in South America
-
Orioli IM, Castilla EE. 2007. Clinical epidemiologic study of holoprosencephaly in South America. Am J Med Genet Part A 143A: 3088- 3099.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 3088-3099
-
-
Orioli, I.M.1
Castilla, E.E.2
-
39
-
-
76149115260
-
Epidemiology of holoprosencephaly: Prevalence and risk factors
-
Orioli IM, Castilla EE. 2010. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet Part C 154C: 73- 85.
-
(2010)
Am J Med Genet Part C
, vol.154 C
, pp. 73-85
-
-
Orioli, I.M.1
Castilla, E.E.2
-
40
-
-
0030457125
-
Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992
-
Rasmussen SA, Moore CA, Khoury MJ, Cordero JF. 1996. Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992. Am J Med Genet 66: 320- 333.
-
(1996)
Am J Med Genet
, vol.66
, pp. 320-333
-
-
Rasmussen, S.A.1
Moore, C.A.2
Khoury, M.J.3
Cordero, J.F.4
-
41
-
-
0016773230
-
Holoprosencephaly: Birth data, genetic and demographic analyses of 30 families
-
Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. 1975. Holoprosencephaly: Birth data, genetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser 11: 294- 313.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 294-313
-
-
Roach, E.1
Demyer, W.2
Conneally, P.M.3
Palmer, C.4
Merritt, A.D.5
-
42
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. 1996. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14: 357- 360.
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.C.7
Muenke, M.8
-
43
-
-
0344392285
-
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
-
Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i, Altaba A, Muenke M. 2003. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 100: 13424- 13429.
-
(2003)
Proc Natl Acad Sci USA
, 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
Roeder, E.R.7
Ming, J.E.8
Ruiz, I.9
Altaba, A.10
Muenke, M.11
-
44
-
-
0026526698
-
Holoprosencephaly and maternal low-calorie weight-reducing diet
-
Ronen GM. 1992. Holoprosencephaly and maternal low-calorie weight-reducing diet. Am J Med Genet 42: 139.
-
(1992)
Am J Med Genet
, vol.42
, pp. 139
-
-
Ronen, G.M.1
-
45
-
-
0025886851
-
Holoprosencephaly as a possible embryonic alcohol effect
-
Ronen GM, Andrews WL. 1991. Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40: 151- 154.
-
(1991)
Am J Med Genet
, vol.40
, pp. 151-154
-
-
Ronen, G.M.1
Andrews, W.L.2
-
46
-
-
0029094909
-
Holoprosencephaly and antiepileptic exposures
-
Rosa F. 1995. Holoprosencephaly and antiepileptic exposures. Teratology 51: 230.
-
(1995)
Teratology
, vol.51
, pp. 230
-
-
Rosa, F.1
-
47
-
-
0021963417
-
A case of suspected teratogenic holoprosencephaly
-
Stabile M, Bianco A, Iannuzzi S, Buonocore MC, Ventruto V. 1985. A case of suspected teratogenic holoprosencephaly. J Med Genet 22: 147- 149.
-
(1985)
J Med Genet
, vol.22
, pp. 147-149
-
-
Stabile, M.1
Bianco, A.2
Iannuzzi, S.3
Buonocore, M.C.4
Ventruto, V.5
-
48
-
-
0031973930
-
Classification and birth prevalence of orofacial clefts
-
Tolarova MM, Cervenka J. 1998. Classification and birth prevalence of orofacial clefts. Am J Med Genet 75: 126- 137.
-
(1998)
Am J Med Genet
, vol.75
, pp. 126-137
-
-
Tolarova, M.M.1
Cervenka, J.2
-
49
-
-
0023718764
-
Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother
-
Urioste M, Valcarcel E, Gomez MA, Pinel I, Garcia deLeón R, Diaz de Bustamante A, Tebar R, Martinez-Frias ML. 1988. Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother. Am J Med Genet 30: 925- 928.
-
(1988)
Am J Med Genet
, vol.30
, pp. 925-928
-
-
Urioste, M.1
Valcarcel, E.2
Gomez, M.A.3
Pinel, I.4
Garcia deLeón, R.5
Diaz de Bustamante, A.6
Tebar, R.7
Martinez-Frias, M.L.8
-
50
-
-
0033064156
-
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
-
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. 1999. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 22: 196- 198.
-
(1999)
Nat Genet
, vol.22
, pp. 196-198
-
-
Wallis, D.E.1
Roessler, E.2
Hehr, U.3
Nanni, L.4
Wiltshire, T.5
Richieri-Costa, A.6
Gillessen-Kaesbach, G.7
Zackai, E.H.8
Rommens, J.9
Muenke, M.10
-
51
-
-
0030035711
-
Holoprosencephaly in the west of Scotland 1975-1994
-
Whiteford ML, Tolmie JL. 1996. Holoprosencephaly in the west of Scotland 1975-1994. J Med Genet 33: 578- 584.
-
(1996)
J Med Genet
, vol.33
, pp. 578-584
-
-
Whiteford, M.L.1
Tolmie, J.L.2
-
52
-
-
33646095791
-
Sonic hedgehog is essential for first pharyngeal arch development
-
Yamagishi C, Yamagishi H, Maeda J, Tsuchihashi T, Ivey K, Hu T, Srivastava D. 2006. Sonic hedgehog is essential for first pharyngeal arch development. Pediatr Res 59: 349- 354.
-
(2006)
Pediatr Res
, vol.59
, pp. 349-354
-
-
Yamagishi, C.1
Yamagishi, H.2
Maeda, J.3
Tsuchihashi, T.4
Ivey, K.5
Hu, T.6
Srivastava, D.7
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