-
2
-
-
18644369102
-
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
-
Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. 2002. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 71: 1195-1199.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1195-1199
-
-
Al-Baradie, R.1
Yamada, K.2
St Hilaire, C.3
Chan, W.M.4
Andrews, C.5
McIntosh, N.6
Nakano, M.7
Martonyi, E.J.8
Raymond, W.R.9
Okumura, S.10
Okihiro, M.M.11
Engle, E.C.12
-
3
-
-
84863393160
-
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
-
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C. 2012. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 44: 435-439.
-
(2012)
Nat Genet
, vol.44
, pp. 435-439
-
-
Albers, C.A.1
Paul, D.S.2
Schulze, H.3
Freson, K.4
Stephens, J.C.5
Smethurst, P.A.6
Jolley, J.D.7
Cvejic, A.8
Kostadima, M.9
Bertone, P.10
Breuning, M.H.11
Debili, N.12
Deloukas, P.13
Favier, R.14
Fiedler, J.15
Hobbs, C.M.16
Huang, N.17
Hurles, M.E.18
Kiddle, G.19
Krapels, I.20
Nurden, P.21
Ruivenkamp, C.A.22
Sambrook, J.G.23
Smith, K.24
Stemple, D.L.25
Strauss, G.26
Thys, C.27
van Geet, C.28
Newbury-Ecob, R.29
Ouwehand, W.H.30
Ghevaert, C.31
more..
-
4
-
-
33846415079
-
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
-
Alter BP, Rosenberg PS, Brody LC. 2007. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 44: 1-9.
-
(2007)
J Med Genet
, vol.44
, pp. 1-9
-
-
Alter, B.P.1
Rosenberg, P.S.2
Brody, L.C.3
-
5
-
-
0036724842
-
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes
-
Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW. 2002. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 71: 663-668.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 663-668
-
-
Andelfinger, G.1
Tapper, A.R.2
Welch, R.C.3
Vanoye, C.G.4
George Jr., A.L.5
Benson, D.W.6
-
6
-
-
78049298308
-
Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association
-
Arrington CB, Patel A, Bacino CA, Bowles NE. 2010. Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. Am J Med Genet Part A 152A: 2919-2923.
-
(2010)
Am J Med Genet Part A
, vol.152 A
, pp. 2919-2923
-
-
Arrington, C.B.1
Patel, A.2
Bacino, C.A.3
Bowles, N.E.4
-
7
-
-
61849115313
-
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
-
Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ. 2009. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet 18: 1110-1121.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1110-1121
-
-
Asai-Coakwell, M.1
French, C.R.2
Ye, M.3
Garcha, K.4
Bigot, K.5
Perera, A.G.6
Staehling-Hampton, K.7
Mema, S.C.8
Chanda, B.9
Mushegian, A.10
Bamforth, S.11
Doschak, M.R.12
Li, G.13
Dobbs, M.B.14
Giampietro, P.F.15
Brooks, B.P.16
Vijayalakshmi, P.17
Sauvé, Y.18
Abitbol, M.19
Sundaresan, P.20
van Heyningen, V.21
Pourquié, O.22
Underhill, T.M.23
Waskiewicz, A.J.24
Lehmann, O.J.25
more..
-
8
-
-
0027861014
-
Fanconi anemia diagnosis and the diepoxybutane (DEB) test
-
Auerbach AD. 1993. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21: 731-733.
-
(1993)
Exp Hematol
, vol.21
, pp. 731-733
-
-
Auerbach, A.D.1
-
9
-
-
67650451108
-
Fanconi anemia and its diagnosis
-
Auerbach AD. 2009. Fanconi anemia and its diagnosis. Mutat Res 668: 4-10.
-
(2009)
Mutat Res
, vol.668
, pp. 4-10
-
-
Auerbach, A.D.1
-
10
-
-
0030986873
-
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
-
Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB. 1997. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet 16: 311-315.
-
(1997)
Nat Genet
, vol.16
, pp. 311-315
-
-
Bamshad, M.1
Lin, R.C.2
Law, D.J.3
Watkins, W.C.4
Krakowiak, P.A.5
Moore, M.E.6
Franceschini, P.7
Lala, R.8
Holmes, L.B.9
Gebuhr, T.C.10
Bruneau, B.G.11
Schinzel, A.12
Seidman, J.G.13
Seidman, C.E.14
Jorde, L.B.15
-
11
-
-
84863986899
-
Inheritance of the VATER/VACTERL association
-
Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Reutter H, Zwink N. 2012. Inheritance of the VATER/VACTERL association. Pediatr Surg Int 28: 681-685.
-
(2012)
Pediatr Surg Int
, vol.28
, pp. 681-685
-
-
Bartels, E.1
Jenetzky, E.2
Solomon, B.D.3
Ludwig, M.4
Schmiedeke, E.5
Grasshoff-Derr, S.6
Schmidt, D.7
Märzheuser, S.8
Hosie, S.9
Weih, S.10
Holland-Cunz, S.11
Palta, M.12
Leonhardt, J.13
Schäfer, M.14
Kujath, C.15
Rißmann, A.16
Nöthen, M.M.17
Reutter, H.18
Zwink, N.19
-
12
-
-
0030636780
-
Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. 1997. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15: 30-35.
-
(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
Soults, J.6
Grayzel, D.7
Kroumpouzou, E.8
Traill, T.A.9
Leblanc-Straceski, J.10
Renault, B.11
Kucherlapati, R.12
Seidman, J.G.13
Seidman, C.E.14
-
13
-
-
4143139955
-
A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman
-
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. 2004. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46, XX woman. N Engl J Med 351: 792-798.
-
(2004)
N Engl J Med
, vol.351
, pp. 792-798
-
-
Biason-Lauber, A.1
Konrad, D.2
Navratil, F.3
Schoenle, E.J.4
-
14
-
-
0030911255
-
The spectrum of congenital anomalies of the VATER association: An international study
-
Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martínez-Frías ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. 1997. The spectrum of congenital anomalies of the VATER association: An international study. Am J Med Genet 71: 8-15.
-
(1997)
Am J Med Genet
, vol.71
, pp. 8-15
-
-
Botto, L.D.1
Khoury, M.J.2
Mastroiacovo, P.3
Castilla, E.E.4
Moore, C.A.5
Skjaerven, R.6
Mutchinick, O.M.7
Borman, B.8
Cocchi, G.9
Czeizel, A.E.10
Goujard, J.11
Irgens, L.M.12
Lancaster, P.A.13
Martínez-Frías, M.L.14
Merlob, P.15
Ruusinen, A.16
Stoll, C.17
Sumiyoshi, Y.18
-
15
-
-
0019378276
-
Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia
-
Cervenka J, Arthur D, Yasis C. 1981. Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics 67: 119-127.
-
(1981)
Pediatrics
, vol.67
, pp. 119-127
-
-
Cervenka, J.1
Arthur, D.2
Yasis, C.3
-
16
-
-
79955031510
-
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
-
Chung B, Shaffer LG, Keating S, Johnson J, Casey B, Chitayat D. 2011. From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders. Am J Med Genet Part A 155A: 1123-1128.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 1123-1128
-
-
Chung, B.1
Shaffer, L.G.2
Keating, S.3
Johnson, J.4
Casey, B.5
Chitayat, D.6
-
17
-
-
0022374474
-
An aetiological study of the VACTERL-association
-
Czeizel A, Ludányi I. 1985. An aetiological study of the VACTERL-association. Eur J Pediatr 144: 331-337.
-
(1985)
Eur J Pediatr
, vol.144
, pp. 331-337
-
-
Czeizel, A.1
Ludányi, I.2
-
18
-
-
26444448949
-
Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation
-
Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat-Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG. 2005. Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation. Neurology 65: 1083-1089.
-
(2005)
Neurology
, vol.65
, pp. 1083-1089
-
-
Davies, N.P.1
Imbrici, P.2
Fialho, D.3
Herd, C.4
Bilsland, L.G.5
Weber, A.6
Mueller, R.7
Hilton-Jones, D.8
Ealing, J.9
Boothman, B.R.10
Giunti, P.11
Parsons, L.M.12
Thomas, M.13
Manzur, A.Y.14
Jurkat-Rott, K.15
Lehmann-Horn, F.16
Chinnery, P.F.17
Rose, M.18
Kullmann, D.M.19
Hanna, M.G.20
more..
-
19
-
-
10744221225
-
X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum
-
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. 2003. X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet Part A 120A: 222-228.
-
(2003)
Am J Med Genet Part A
, vol.120 A
, pp. 222-228
-
-
De Falco, F.1
Cainarca, S.2
Andolfi, G.3
Ferrentino, R.4
Berti, C.5
Rodríguez Criado, G.6
Rittinger, O.7
Dennis, N.8
Odent, S.9
Rastogi, A.10
Liebelt, J.11
Chitayat, D.12
Winter, R.13
Jawanda, H.14
Ballabio, A.15
Franco, B.16
Meroni, G.17
-
20
-
-
40049105518
-
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association
-
de Jong EM, Felix JF, Deurloo JA, van Dooren MF, Aronson DC, Torfs CP, Heij HA, Tibboel D. 2008. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol 82: 92-97.
-
(2008)
Birth Defects Res A Clin Mol Teratol
, vol.82
, pp. 92-97
-
-
de Jong, E.M.1
Felix, J.F.2
Deurloo, J.A.3
van Dooren, M.F.4
Aronson, D.C.5
Torfs, C.P.6
Heij, H.A.7
Tibboel, D.8
-
21
-
-
77958476031
-
5q11.2 deletion in a patient with tracheal agenesis
-
de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A. 2010a. 5q11.2 deletion in a patient with tracheal agenesis. Eur J Hum Genet 18: 1265-1268.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1265-1268
-
-
de Jong, E.M.1
Douben, H.2
Eussen, B.H.3
Felix, J.F.4
Wessels, M.W.5
Poddighe, P.J.6
Nikkels, P.G.7
de Krijger, R.R.8
Tibboel, D.9
de Klein, A.10
-
23
-
-
33847196427
-
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
-
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80: 485-494.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 485-494
-
-
Deardorff, M.A.1
Kaur, M.2
Yaeger, D.3
Rampuria, A.4
Korolev, S.5
Pie, J.6
Gil-Rodríguez, C.7
Arnedo, M.8
Loeys, B.9
Kline, A.D.10
Wilson, M.11
Lillquist, K.12
Siu, V.13
Ramos, F.J.14
Musio, A.15
Jackson, L.S.16
Dorsett, D.17
Krantz, I.D.18
-
24
-
-
79957587544
-
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
-
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. 2011. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 32: 610-619.
-
(2011)
Hum Mutat
, vol.32
, pp. 610-619
-
-
Deveault, C.1
Billingsley, G.2
Duncan, J.L.3
Bin, J.4
Theal, R.5
Vincent, A.6
Fieggen, K.J.7
Gerth, C.8
Noordeh, N.9
Traboulsi, E.I.10
Fishman, G.A.11
Chitayat, D.12
Knueppel, T.13
Millán, J.M.14
Munier, F.L.15
Kennedy, D.16
Jacobson, S.G.17
Innes, A.M.18
Mitchell, G.A.19
Boycott, K.20
Héon, E.21
more..
-
25
-
-
76049086340
-
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
-
Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. 2010. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 86: 222-228.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 222-228
-
-
Doherty, L.1
Sheen, M.R.2
Vlachos, A.3
Choesmel, V.4
O'Donohue, M.F.5
Clinton, C.6
Schneider, H.E.7
Sieff, C.A.8
Newburger, P.E.9
Ball, S.E.10
Niewiadomska, E.11
Matysiak, M.12
Glader, B.13
Arceci, R.J.14
Farrar, J.E.15
Atsidaftos, E.16
Lipton, J.M.17
Gleizes, P.E.18
Gazda, H.T.19
-
26
-
-
0021800055
-
Tracheal agenesis and associated malformations: A comparison with tracheoesophageal fistula and the VACTERL association
-
Evans JA, Reggin J, Greenberg C. 1985. Tracheal agenesis and associated malformations: A comparison with tracheoesophageal fistula and the VACTERL association. Am J Med Genet 21: 21-38.
-
(1985)
Am J Med Genet
, vol.21
, pp. 21-38
-
-
Evans, J.A.1
Reggin, J.2
Greenberg, C.3
-
27
-
-
0026701702
-
Patterns of acrorenal malformation associations
-
Evans JA, Vitez M, Czeizel A. 1992. Patterns of acrorenal malformation associations. Am J Med Genet 44: 413-419.
-
(1992)
Am J Med Genet
, vol.44
, pp. 413-419
-
-
Evans, J.A.1
Vitez, M.2
Czeizel, A.3
-
28
-
-
79951965219
-
A novel homozygous missense mutation (c.610G>A, p. Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families
-
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M. 2011. A novel homozygous missense mutation (c.610G>A, p. Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet Part A 155A: 599-604.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 599-604
-
-
Eyaid, W.1
Al-Qattan, M.M.2
Al Abdulkareem, I.3
Fetaini, N.4
Al Balwi, M.5
-
29
-
-
23344449113
-
Should chromosome breakage studies be performed in patients with VACTERL association?
-
Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. 2005. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet Part A 137A: 55-58.
-
(2005)
Am J Med Genet Part A
, vol.137 A
, pp. 55-58
-
-
Faivre, L.1
Portnoï, M.F.2
Pals, G.3
Stoppa-Lyonnet, D.4
Le Merrer, M.5
Thauvin-Robinet, C.6
Huet, F.7
Mathew, C.G.8
Joenje, H.9
Verloes, A.10
Baumann, C.11
-
30
-
-
70349190358
-
Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts
-
Felix JF, de Jong EM, Torfs CP, de Klein A, Rottier RJ, Tibboel D. 2009. Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts. Birth Defects Res A Clin Mol Teratol 85: 747-754.
-
(2009)
Birth Defects Res A Clin Mol Teratol
, vol.85
, pp. 747-754
-
-
Felix, J.F.1
de Jong, E.M.2
Torfs, C.P.3
de Klein, A.4
Rottier, R.J.5
Tibboel, D.6
-
31
-
-
57149100183
-
Identification of a HOXD13 mutation in a VACTERL patient
-
Garcia-Barceló MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, Miao XP, Chung PH, Khong PL, Tam PK. 2008. Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet Part A 146A: 3181-3185.
-
(2008)
Am J Med Genet Part A
, vol.146 A
, pp. 3181-3185
-
-
Garcia-Barceló, M.M.1
Wong, K.K.2
Lui, V.C.3
Yuan, Z.W.4
So, M.T.5
Ngan, E.S.6
Miao, X.P.7
Chung, P.H.8
Khong, P.L.9
Tam, P.K.10
-
32
-
-
0027298257
-
The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry
-
Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. 1993. The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry. Pediatrics 91: 1116-1120.
-
(1993)
Pediatrics
, vol.91
, pp. 1116-1120
-
-
Giampietro, P.F.1
Adler-Brecher, B.2
Verlander, P.C.3
Pavlakis, S.G.4
Davis, J.G.5
Auerbach, A.D.6
-
33
-
-
0033625748
-
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
-
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. 2000. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet 67: 197-202.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 197-202
-
-
Goodman, F.R.1
Bacchelli, C.2
Brady, A.F.3
Brueton, L.A.4
Fryns, J.P.5
Mortlock, D.P.6
Innis, J.W.7
Holmes, L.B.8
Donnenfeld, A.E.9
Feingold, M.10
Beemer, F.A.11
Hennekam, R.C.12
Scambler, P.J.13
-
34
-
-
0036916738
-
Thrombocytopenia-absent radius syndrome: A clinical genetic study
-
Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA. 2002. Thrombocytopenia-absent radius syndrome: A clinical genetic study. J Med Genet 39: 876-881.
-
(2002)
J Med Genet
, vol.39
, pp. 876-881
-
-
Greenhalgh, K.L.1
Howell, R.T.2
Bottani, A.3
Ancliff, P.J.4
Brunner, H.G.5
Verschuuren-Bemelmans, C.C.6
Vernon, E.7
Brown, K.W.8
Newbury-Ecob, R.A.9
-
35
-
-
13544260715
-
Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome
-
Griesinger G, Dafopoulos K, Schultze-Mosgau A, Schroder A, Felberbaum R, Diedrich K. 2005. Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. Fertil Steril 83: 452-454.
-
(2005)
Fertil Steril
, vol.83
, pp. 452-454
-
-
Griesinger, G.1
Dafopoulos, K.2
Schultze-Mosgau, A.3
Schroder, A.4
Felberbaum, R.5
Diedrich, K.6
-
36
-
-
0033625433
-
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
-
Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T. 2000. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet 66: 1504-1515.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1504-1515
-
-
Hagan, D.M.1
Ross, A.J.2
Strachan, T.3
Lynch, S.A.4
Ruiz-Perez, V.5
Wang, Y.M.6
Scambler, P.7
Custard, E.8
Reardon, W.9
Hassan, S.10
Nixon, P.11
Papapetrou, C.12
Winter, R.M.13
Edwards, Y.14
Morrison, K.15
Barrow, M.16
Cordier-Alex, M.P.17
Correia, P.18
Galvin-Parton, P.A.19
Gaskill, S.20
Gaskin, K.J.21
Garcia-Minaur, S.22
Gereige, R.23
Hayward, R.24
Homfray, T.25
more..
-
37
-
-
62649129318
-
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
-
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. 2009. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 84: 188-196.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 188-196
-
-
Heinz-Erian, P.1
Müller, T.2
Krabichler, B.3
Schranz, M.4
Becker, C.5
Rüschendorf, F.6
Nürnberg, P.7
Rossier, B.8
Vujic, M.9
Booth, I.W.10
Holmberg, C.11
Wijmenga, C.12
Grigelioniene, G.13
Kneepkens, C.M.14
Rosipal, S.15
Mistrik, M.16
Kappler, M.17
Michaud, L.18
Dóczy, L.C.19
Siu, V.M.20
Krantz, M.21
Zoller, H.22
Utermann, G.23
Janecke, A.R.24
more..
-
38
-
-
33749252180
-
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
-
Holden ST, Cox JJ, Kesterton I, Thomas NS, Carr C, Woods CG. 2006. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet 43: 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
-
39
-
-
20944448235
-
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
-
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. 2005. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37: 520-525.
-
(2005)
Nat Genet
, vol.37
, pp. 520-525
-
-
Jadeja, S.1
Smyth, I.2
Pitera, J.E.3
Taylor, M.S.4
van Haelst, M.5
Bentley, E.6
McGregor, L.7
Hopkins, J.8
Chalepakis, G.9
Philip, N.10
Perez Aytes, A.11
Watt, F.M.12
Darling, S.M.13
Jackson, I.14
Woolf, A.S.15
Scambler, P.J.16
-
40
-
-
79960566160
-
Bias in patient series with VACTERL association
-
Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IA. 2011. Bias in patient series with VACTERL association. Am J Med Genet Part A 155A: 2039-2041.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 2039-2041
-
-
Jenetzky, E.1
Wijers, C.H.2
Marcelis, C.M.3
Zwink, N.4
Reutter, H.5
van Rooij, I.A.6
-
41
-
-
20144387269
-
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations
-
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. 2005. 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: 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
Abbott, M.H.7
Aughton, D.J.8
Aylsworth, A.S.9
Bamshad, M.J.10
Booth, C.11
Curry, C.J.12
David, A.13
Dinulos, M.B.14
Flannery, D.B.15
Fox, M.A.16
Graham, J.M.17
Grange, D.K.18
Guttmacher, A.E.19
Hannibal, M.C.20
Henn, W.21
Hennekam, R.C.22
Holmes, L.B.23
Hoyme, H.E.24
Leppig, K.A.25
Lin, A.E.26
Macleod, P.27
Manchester, D.K.28
Marcelis, C.29
Mazzanti, L.30
McCann, E.31
McDonald, M.T.32
Mendelsohn, N.J.33
Moeschler, J.B.34
Moghaddam, B.35
Neri, G.36
Newbury-Ecob, R.37
Pagon, R.A.38
Phillips, J.A.39
Sadler, L.S.40
Stoler, J.M.41
Tilstra, D.42
Walsh Vockley, C.M.43
Zackai, E.H.44
Zadeh, T.M.45
Brueton, L.46
Black, G.C.47
Biesecker, L.G.48
more..
-
42
-
-
0342936349
-
VATER non-random association of congenital malformations: Study based on data from four malformation registers
-
Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B. 2001. VATER non-random association of congenital malformations: Study based on data from four malformation registers. Am J Med Genet 101: 26-32.
-
(2001)
Am J Med Genet
, vol.101
, pp. 26-32
-
-
Källén, K.1
Mastroiacovo, P.2
Castilla, E.E.3
Robert, E.4
Källén, B.5
-
43
-
-
84355161490
-
Renal anomalies in Alagille syndrome: A disease-defining feature
-
Epub ahead of print.
-
Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K. 2012. Renal anomalies in Alagille syndrome: A disease-defining feature. Am J Med Genet Part A [Epub ahead of print].
-
(2012)
Am J Med Genet Part A
-
-
Kamath, B.M.1
Podkameni, G.2
Hutchinson, A.L.3
Leonard, L.D.4
Gerfen, J.5
Krantz, I.D.6
Piccoli, D.A.7
Spinner, N.B.8
Loomes, K.M.9
Meyers, K.10
-
44
-
-
0031019090
-
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
-
Kang S, Graham JM Jr, Olney AH, Biesecker LG. 1997. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15: 266-268.
-
(1997)
Nat Genet
, vol.15
, pp. 266-268
-
-
Kang, S.1
Graham Jr., J.M.2
Olney, A.H.3
Biesecker, L.G.4
-
45
-
-
78049320449
-
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
-
Kantaputra PN, Mundlos S, Sripathomsawat W. 2010. A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Med Genet Part A 152A: 2832-2837.
-
(2010)
Am J Med Genet Part A
, vol.152 A
, pp. 2832-2837
-
-
Kantaputra, P.N.1
Mundlos, S.2
Sripathomsawat, W.3
-
46
-
-
0002509181
-
Family studies in congenital heart disease, II: A syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart disease
-
Kaufman RL, Hartmann AF, McAlister WH. 1972. Family studies in congenital heart disease, II: A syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart disease. Birth Defects Orig Art Ser 8: 85-87.
-
(1972)
Birth Defects Orig Art Ser
, vol.8
, pp. 85-87
-
-
Kaufman, R.L.1
Hartmann, A.F.2
McAlister, W.H.3
-
47
-
-
0020623203
-
A population study of the VACTERL association: Evidence for its etiologic heterogeneity
-
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. 1983. A population study of the VACTERL association: Evidence for its etiologic heterogeneity. Pediatrics 71: 815-820.
-
(1983)
Pediatrics
, vol.71
, pp. 815-820
-
-
Khoury, M.J.1
Cordero, J.F.2
Greenberg, F.3
James, L.M.4
Erickson, J.D.5
-
48
-
-
34047261773
-
Mutations in VANGL1 associated with neural-tube defects
-
Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P. 2007. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med 356: 1432-1437.
-
(2007)
N Engl J Med
, vol.356
, pp. 1432-1437
-
-
Kibar, Z.1
Torban, E.2
McDearmid, J.R.3
Reynolds, A.4
Berghout, J.5
Mathieu, M.6
Kirillova, I.7
De Marco, P.8
Merello, E.9
Hayes, J.M.10
Wallingford, J.B.11
Drapeau, P.12
Capra, V.13
Gros, P.14
-
49
-
-
0033925849
-
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: Clinical and molecular analysis
-
Killoran CE, Abbott M, McKusick VA, Biesecker LG. 2000. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: Clinical and molecular analysis. Clin Genet 58: 28-30.
-
(2000)
Clin Genet
, vol.58
, pp. 28-30
-
-
Killoran, C.E.1
Abbott, M.2
McKusick, V.A.3
Biesecker, L.G.4
-
50
-
-
0035025182
-
The VACTERL association: Lessons from the Sonic hedgehog pathway
-
Kim J, Kim P, Hui CC. 2001. The VACTERL association: Lessons from the Sonic hedgehog pathway. Clin Genet 59: 306-315.
-
(2001)
Clin Genet
, vol.59
, pp. 306-315
-
-
Kim, J.1
Kim, P.2
Hui, C.C.3
-
51
-
-
84865202400
-
A 600kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family
-
Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ. 2012. A 600kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. J Hum Genet 20: 986-989.
-
(2012)
J Hum Genet
, vol.20
, pp. 986-989
-
-
Knijnenburg, J.1
van Bever, Y.2
Hulsman, L.O.3
van Kempen, C.A.4
Bolman, G.M.5
van Loon, R.L.6
Beverloo, H.B.7
van Zutven, L.J.8
-
52
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
Kobrynski LJ, Sullivan KE. 2007. Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet 370: 1443-1452.
-
(2007)
Lancet
, vol.370
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
53
-
-
0031963876
-
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
-
Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. 1998. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18: 81-83.
-
(1998)
Nat Genet
, vol.18
, pp. 81-83
-
-
Kohlhase, J.1
Wischermann, A.2
Reichenbach, H.3
Froster, U.4
Engel, W.5
-
54
-
-
0036848353
-
Okihiro syndrome is caused by SALL4 mutations
-
Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. 2002. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11: 2979-2987.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2979-2987
-
-
Kohlhase, J.1
Heinrich, M.2
Schubert, L.3
Liebers, M.4
Kispert, A.5
Laccone, F.6
Turnpenny, P.7
Winter, R.M.8
Reardon, W.9
-
55
-
-
0037488242
-
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
-
Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. 2003. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet 40: 473-478.
-
(2003)
J Med Genet
, vol.40
, pp. 473-478
-
-
Kohlhase, J.1
Schubert, L.2
Liebers, M.3
Rauch, A.4
Becker, K.5
Mohammed, S.N.6
Newbury-Ecob, R.7
Reardon, W.8
-
57
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36: 631-635.
-
(2004)
Nat Genet
, vol.36
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.H.19
Devoto, M.20
Jackson, L.G.21
more..
-
58
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. 1997. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16: 243-251.
-
(1997)
Nat Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
Collins, C.C.6
Qi, M.7
Trask, B.J.8
Kuo, W.L.9
Cochran, J.10
Costa, T.11
Pierpont, M.E.12
Rand, E.B.13
Piccoli, D.A.14
Hood, L.15
Spinner, N.B.16
-
59
-
-
77952096764
-
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
-
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. 2010. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet 86: 696-706.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 696-706
-
-
Li, Y.1
Pawlik, B.2
Elcioglu, N.3
Aglan, M.4
Kayserili, H.5
Yigit, G.6
Percin, F.7
Goodman, F.8
Nürnberg, G.9
Cenani, A.10
Urquhart, J.11
Chung, B.D.12
Ismail, S.13
Amr, K.14
Aslanger, A.D.15
Becker, C.16
Netzer, C.17
Scambler, P.18
Eyaid, W.19
Hamamy, H.20
Clayton-Smith, J.21
Hennekam, R.22
Nürnberg, P.23
Herz, J.24
Temtamy, S.A.25
Wollnik, B.26
more..
-
60
-
-
71949119476
-
Ulnar-mammary syndrome and TB X3: Expanding the phenotype
-
Linden H, Williams R, King J, Blair E, Kini U. 2009. Ulnar-mammary syndrome and TB X3: Expanding the phenotype. Am J Med Genet Part A 149A: 2809-2812.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 2809-2812
-
-
Linden, H.1
Williams, R.2
King, J.3
Blair, E.4
Kini, U.5
-
61
-
-
37249050874
-
Al-Awadi/Raas-Rothschild syndrome: Two new cases and review
-
Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. 2007. Al-Awadi/Raas-Rothschild syndrome: Two new cases and review. Am J Med Genet Part A 143A: 3169-3174.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 3169-3174
-
-
Lonardo, F.1
Sabba, G.2
Luquetti, D.V.3
Monica, M.D.4
Scarano, G.5
-
62
-
-
51649103583
-
Genotype-phenotype correlations in MYCN-related Feingold syndrome
-
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. 2008. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 29: 1125-1132.
-
(2008)
Hum Mutat
, vol.29
, pp. 1125-1132
-
-
Marcelis, C.L.1
Hol, F.A.2
Graham, G.E.3
Rieu, P.N.4
Kellermayer, R.5
Meijer, R.P.6
Lugtenberg, D.7
Scheffer, H.8
van Bokhoven, H.9
Brunner, H.G.10
de Brouwer, A.P.11
-
63
-
-
33745232796
-
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
-
McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. 2006. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 79: 169-173.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 169-173
-
-
McDaniell, R.1
Warthen, D.M.2
Sanchez-Lara, P.A.3
Pai, A.4
Krantz, I.D.5
Piccoli, D.A.6
Spinner, N.B.7
-
64
-
-
27144559428
-
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
-
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. 2005. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res 58: 981-986.
-
(2005)
Pediatr Res
, vol.58
, pp. 981-986
-
-
McDermott, D.A.1
Bressan, M.C.2
He, J.3
Lee, J.S.4
Aftimos, S.5
Brueckner, M.6
Gilbert, F.7
Graham, G.E.8
Hannibal, M.C.9
Innis, J.W.10
Pierpont, M.E.11
Raas-Rothschild, A.12
Shanske, A.L.13
Smith, W.E.14
Spencer, R.H.15
St John-Sutton, M.G.16
van Maldergem, L.17
Waggoner, D.J.18
Weber, M.19
Basson, C.T.20
more..
-
65
-
-
0029148704
-
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion
-
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. 1995. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59: 103-113.
-
(1995)
Am J Med Genet
, vol.59
, pp. 103-113
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Bason, L.3
Christensen, K.4
Lynch, D.5
Sullivan, K.6
Canning, D.7
Zavod, W.8
Quinn, N.9
Rome, J.10
-
66
-
-
0031050961
-
Mutation of HOXA13 in hand-foot-genital syndrome
-
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Mortlock DP, Innis JW. 1997. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15: 179-180.
-
(1997)
Nat Genet
, vol.15
, pp. 179-180
-
-
McGregor, L.1
Makela, V.2
Darling, S.M.3
Vrontou, S.4
Chalepakis, G.5
Roberts, C.6
Smart, N.7
Rutland, P.8
Prescott, N.9
Hopkins, J.10
Bentley, E.11
Shaw, A.12
Roberts, E.13
Mueller, R.14
Jadeja, S.15
Philip, N.16
Nelson, J.17
Francannet, C.18
Perez-Aytes, A.19
Megarbane, A.20
Kerr, B.21
Mortlock, D.P.22
Innis, J.W.23
more..
-
67
-
-
0037872680
-
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
-
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34: 203-208.
-
(2003)
Nat Genet
, vol.34
, pp. 203-208
-
-
McGregor, L.1
Makela, V.2
Darling, S.M.3
Vrontou, S.4
Chalepakis, G.5
Roberts, C.6
Smart, N.7
Rutland, P.8
Prescott, N.9
Hopkins, J.10
Bentley, E.11
Shaw, A.12
Roberts, E.13
Mueller, R.14
Jadeja, S.15
Philip, N.16
Nelson, J.17
Francannet, C.18
Perez-Aytes, A.19
Megarbane, A.20
Kerr, B.21
Wainwright, B.22
Woolf, A.S.23
Winter, R.M.24
Scambler, P.J.25
more..
-
68
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. 2010. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
Church, D.M.7
Crolla, J.A.8
Eichler, E.E.9
Epstein, C.J.10
Faucett, W.A.11
Feuk, L.12
Friedman, J.M.13
Hamosh, A.14
Jackson, L.15
Kaminsky, E.B.16
Kok, K.17
Krantz, I.D.18
Kuhn, R.M.19
Lee, C.20
Ostell, J.M.21
Rosenberg, C.22
Scherer, S.W.23
Spinner, N.B.24
Stavropoulos, D.J.25
Tepperberg, J.H.26
Thorland, E.C.27
Vermeesch, J.R.28
Waggoner, D.J.29
Watson, M.S.30
Martin, C.L.31
Ledbetter, D.H.32
more..
-
69
-
-
0031050961
-
Mutation of HOXA13 in hand-foot-genital syndrome
-
Mortlock DP, Innis JW. 1997. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15: 179-180.
-
(1997)
Nat Genet
, vol.15
, pp. 179-180
-
-
Mortlock, D.P.1
Innis, J.W.2
-
70
-
-
0015938241
-
Birth defects and oral contraceptives
-
Nora JJ, Nora AH. 1973. Birth defects and oral contraceptives. Lancet 1: 941-942.
-
(1973)
Lancet
, vol.1
, pp. 941-942
-
-
Nora, J.J.1
Nora, A.H.2
-
71
-
-
0016434623
-
A syndrome of multiple congenital anomalies associated with teratogenic exposure
-
Nora AH, Nora JJ. 1975. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 30: 17-21.
-
(1975)
Arch Environ Health
, vol.30
, pp. 17-21
-
-
Nora, A.H.1
Nora, J.J.2
-
72
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. 1997. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16: 235-242.
-
(1997)
Nat Genet
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
Genin, A.6
Piccoli, D.A.7
Meltzer, P.S.8
Spinner, N.B.9
Collins, F.S.10
Chandrasekharappa, S.C.11
-
73
-
-
73949122296
-
WNT5A mutations in patients with autosomal dominant Robinow syndrome
-
Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. 2010. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 239: 327-337.
-
(2010)
Dev Dyn
, vol.239
, pp. 327-337
-
-
Person, A.D.1
Beiraghi, S.2
Sieben, C.M.3
Hermanson, S.4
Neumann, A.N.5
Robu, M.E.6
Schleiffarth, J.R.7
Billington Jr., C.J.8
van Bokhoven, H.9
Hoogeboom, J.M.10
Mazzeu, J.F.11
Petryk, A.12
Schimmenti, L.A.13
Brunner, H.G.14
Ekker, S.C.15
Lohr, J.L.16
-
74
-
-
77950443282
-
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
-
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. 2010. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet Part A 152A: 924-929.
-
(2010)
Am J Med Genet Part A
, vol.152 A
, pp. 924-929
-
-
Pié, J.1
Gil-Rodríguez, M.C.2
Ciero, M.3
López-Viñas, E.4
Ribate, M.P.5
Arnedo, M.6
Deardorff, M.A.7
Puisac, B.8
Legarreta, J.9
de Karam, J.C.10
Rubio, E.11
Bueno, I.12
Baldellou, A.13
Calvo, M.T.14
Casals, N.15
Olivares, J.L.16
Losada, A.17
Hegardt, F.G.18
Krantz, I.D.19
Gómez-Puertas, P.20
Ramos, F.J.21
more..
-
76
-
-
16944365777
-
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
-
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. 1997. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 17: 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
Feldman, G.J.7
Volta, M.8
Andolfi, G.9
Gilgenkrantz, S.10
Marion, R.W.11
Hennekam, R.C.12
Opitz, J.M.13
Muenke, M.14
Ropers, H.H.15
Ballabio, A.16
-
77
-
-
0015541929
-
The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects
-
Quan L, Smith DW. 1973. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects. J Pediatr 82: 104-107.
-
(1973)
J Pediatr
, vol.82
, pp. 104-107
-
-
Quan, L.1
Smith, D.W.2
-
78
-
-
0030002181
-
VACTERL association, epidemiologic definition and delineation
-
Rittler M, Paz JE, Castilla EE. 1996. VACTERL association, epidemiologic definition and delineation. Am J Med Genet 63: 529-536.
-
(1996)
Am J Med Genet
, vol.63
, pp. 529-536
-
-
Rittler, M.1
Paz, J.E.2
Castilla, E.E.3
-
80
-
-
0034791061
-
Phenotypic variability of the cat eye syndrome. Case report and review of the literature
-
Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB. 2001. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 12: 273-282.
-
(2001)
Genet Couns
, vol.12
, pp. 273-282
-
-
Rosias, P.R.1
Sijstermans, J.M.2
Theunissen, P.M.3
Pulles-Heintzberger, C.F.4
De Die-Smulders, C.E.5
Engelen, J.J.6
Van Der Meer, S.B.7
-
81
-
-
17344363829
-
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
-
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. 1998. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20: 358-361.
-
(1998)
Nat Genet
, vol.20
, pp. 358-361
-
-
Ross, A.J.1
Ruiz-Perez, V.2
Wang, Y.3
Hagan, D.M.4
Scherer, S.5
Lynch, S.A.6
Lindsay, S.7
Custard, E.8
Belloni, E.9
Wilson, D.I.10
Wadey, R.11
Goodman, F.12
Orstavik, K.H.13
Monclair, T.14
Robson, S.15
Reardon, W.16
Burn, J.17
Scambler, P.18
Strachan, T.19
-
82
-
-
79951946271
-
De novo microduplication at 22q11.21 in a patient with VACTERL association
-
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H. 2011. De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet 54: 9-13.
-
(2011)
Eur J Med Genet
, vol.54
, pp. 9-13
-
-
Schramm, C.1
Draaken, M.2
Bartels, E.3
Boemers, T.M.4
Aretz, S.5
Brockschmidt, F.F.6
Nöthen, M.M.7
Ludwig, M.8
Reutter, H.9
-
83
-
-
12944273481
-
Anomalies of the kidney and urinary tract are common in de Lange syndrome
-
Selicorni A, Sforzini C, Milani D, Cagnoli G, Fossali E, Bianchetti MG. 2005. Anomalies of the kidney and urinary tract are common in de Lange syndrome. Am J Med Genet Part A 132A: 395-397.
-
(2005)
Am J Med Genet Part A
, vol.132 A
, pp. 395-397
-
-
Selicorni, A.1
Sforzini, C.2
Milani, D.3
Cagnoli, G.4
Fossali, E.5
Bianchetti, M.G.6
-
84
-
-
77952674566
-
Pathophysiology and management of inherited bone marrow failure syndromes
-
Shimamura A, Alter BP. 2010. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 24: 101-122.
-
(2010)
Blood Rev
, vol.24
, pp. 101-122
-
-
Shimamura, A.1
Alter, B.P.2
-
85
-
-
0034722869
-
Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
-
Slavotinek AM, Biesecker LG. 2000. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review. Am J Med Genet 95: 208-215.
-
(2000)
Am J Med Genet
, vol.95
, pp. 208-215
-
-
Slavotinek, A.M.1
Biesecker, L.G.2
-
86
-
-
31744441248
-
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
-
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH II, Harris PC, Johnson CA. 2006. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 38: 191-196.
-
(2006)
Nat Genet
, vol.38
, pp. 191-196
-
-
Smith, U.M.1
Consugar, M.2
Tee, L.J.3
McKee, B.M.4
Maina, E.N.5
Whelan, S.6
Morgan, N.V.7
Goranson, E.8
Gissen, P.9
Lilliquist, S.10
Aligianis, I.A.11
Ward, C.J.12
Pasha, S.13
Punyashthiti, R.14
Malik Sharif, S.15
Batman, P.A.16
Bennett, C.P.17
Woods, C.G.18
McKeown, C.19
Bucourt, M.20
Miller, C.A.21
Cox, P.22
Algazali, L.23
Trembath, R.C.24
Torres, V.E.25
Attie-Bitach, T.26
Kelly, D.A.27
Maher, E.R.28
Gattone II, V.H.29
Harris, P.C.30
Johnson, C.A.31
more..
-
87
-
-
80051624544
-
VACTERL/VATER association
-
Solomon BD. 2011. VACTERL/VATER association. Orphanet J Rare Dis 6: 56.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 56
-
-
Solomon, B.D.1
-
88
-
-
77956101213
-
Analysis of component findings in 79 patients diagnosed with VACTERL association
-
Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, Vélez JI, Cummings DA. 2010a. Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet Part A 152A: 2236-2244.
-
(2010)
Am J Med Genet Part A
, vol.152 A
, pp. 2236-2244
-
-
Solomon, B.D.1
Pineda-Alvarez, D.E.2
Raam, M.S.3
Bous, S.M.4
Keaton, A.A.5
Vélez, J.I.6
Cummings, D.A.7
-
91
-
-
80052574197
-
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene
-
Solomon BD, Pineda-Alvarez DE, Hadley DW, Keaton AA, Agochukwu NB, Raam MS, Carlson-Donohoe HE, Kamat A, Chandrasekharappa SC. 2011b. De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. Birth Defects Res A Clin Mol Teratol 91: 862-865.
-
(2011)
Birth Defects Res A Clin Mol Teratol
, vol.91
, pp. 862-865
-
-
Solomon, B.D.1
Pineda-Alvarez, D.E.2
Hadley, D.W.3
Keaton, A.A.4
Agochukwu, N.B.5
Raam, M.S.6
Carlson-Donohoe, H.E.7
Kamat, A.8
Chandrasekharappa, S.C.9
-
92
-
-
79956209460
-
Analysis of genitourinary anomalies in patients with VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, limb abnormalities) association
-
Solomon BD, Raam MS, Pineda-Alvarez DE. 2011c. Analysis of genitourinary anomalies in patients with VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, limb abnormalities) association. Congenit Anom (Kyoto) 51: 87-91.
-
(2011)
Congenit Anom (Kyoto)
, vol.51
, pp. 87-91
-
-
Solomon, B.D.1
Raam, M.S.2
Pineda-Alvarez, D.E.3
-
93
-
-
84859753758
-
A mechanism for gene-environment interaction in the etiology of congenital scoliosis
-
Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O'Reilly VC, Saga Y, Zackai EH, Dormans JP, Alman BA, McGregor L, Kageyama R, Kusumi K, Dunwoodie SL. 2012. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 149: 295-306.
-
(2012)
Cell
, vol.149
, pp. 295-306
-
-
Sparrow, D.B.1
Chapman, G.2
Smith, A.J.3
Mattar, M.Z.4
Major, J.A.5
O'Reilly, V.C.6
Saga, Y.7
Zackai, E.H.8
Dormans, J.P.9
Alman, B.A.10
McGregor, L.11
Kageyama, R.12
Kusumi, K.13
Dunwoodie, S.L.14
-
94
-
-
66449113643
-
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 SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. 2009. 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 84: 780-791.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 780-791
-
-
Stankiewicz, P.1
Sen, P.2
Bhatt, S.S.3
Storer, M.4
Xia, Z.5
Bejjani, B.A.6
Ou, Z.7
Wiszniewska, J.8
Driscoll, D.J.9
Maisenbacher, M.K.10
Bolivar, J.11
Bauer, M.12
Zackai, E.H.13
McDonald-McGinn, D.14
Nowaczyk, M.M.15
Murray, M.16
Hustead, V.17
Mascotti, K.18
Schultz, R.19
Hallam, L.20
McRae, D.21
Nicholson, A.G.22
Newbury, R.23
Durham-O'Donnell, J.24
Knight, G.25
Kini, U.26
Shaikh, T.H.27
Martin, V.28
Tyreman, M.29
Simonic, I.30
Willatt, L.31
Paterson, J.32
Mehta, S.33
Rajan, D.34
Fitzgerald, T.35
Gribble, S.36
Prigmore, E.37
Patel, A.38
Shaffer, L.G.39
Carter, N.P.40
Cheung, S.W.41
Langston, C.42
Shaw-Smith, C.43
more..
-
95
-
-
0014821609
-
The hand-food-uterus syndrome: A new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract
-
Stern AM, Gall JC Jr, Perry BL, Stimson CW, Weitkamp LR, Poznanski AK. 1970. The hand-food-uterus syndrome: A new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract. J Pediatr 77: 109-116.
-
(1970)
J Pediatr
, vol.77
, pp. 109-116
-
-
Stern, A.M.1
Gall Jr., J.C.2
Perry, B.L.3
Stimson, C.W.4
Weitkamp, L.R.5
Poznanski, A.K.6
-
96
-
-
0016279187
-
Extending the scope of the VATER association: Definition of the VATER syndrome
-
Temtamy SA, Miller JD. 1974. Extending the scope of the VATER association: Definition of the VATER syndrome. J Pediatr 85: 345-349.
-
(1974)
J Pediatr
, vol.85
, pp. 345-349
-
-
Temtamy, S.A.1
Miller, J.D.2
-
97
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, ismutated in Cornelia de Lange syndrome
-
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, ismutated in Cornelia de Lange syndrome. Nat Genet 36: 636-641.
-
(2004)
Nat Genet
, vol.36
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
98
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. 2002. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110: 381-388.
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
Sansone, V.4
Meola, G.5
Hahn, A.6
Bendahhou, S.7
Kwiecinski, H.8
Fidzianska, A.9
Plaster, N.10
Fu, Y.H.11
Ptacek, L.J.12
Tawil, R.13
-
99
-
-
68049117211
-
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
-
Tyreman M, Abbott KM, Willatt LR, Nash R, Lees C, Whittaker J, Simonic I. 2009. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 46: 531-541.
-
(2009)
J Med Genet
, vol.46
, pp. 531-541
-
-
Tyreman, M.1
Abbott, K.M.2
Willatt, L.R.3
Nash, R.4
Lees, C.5
Whittaker, J.6
Simonic, I.7
-
100
-
-
81955164128
-
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)
-
Umaña LA, Magoulas P, Bi W, Bacino CA. 2011. A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). Am J Med Genet Part A 155A: 3071-3074.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 3071-3074
-
-
Umaña, L.A.1
Magoulas, P.2
Bi, W.3
Bacino, C.A.4
-
101
-
-
39749126187
-
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
-
Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. 2008. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 40: 287-289.
-
(2008)
Nat Genet
, vol.40
, pp. 287-289
-
-
Unger, S.1
Böhm, D.2
Kaiser, F.J.3
Kaulfuss, S.4
Borozdin, W.5
Buiting, K.6
Burfeind, P.7
Böhm, J.8
Barrionuevo, F.9
Craig, A.10
Borowski, K.11
Keppler-Noreuil, K.12
Schmitt-Mechelke, T.13
Steiner, B.14
Bartholdi, D.15
Lemke, J.16
Mortier, G.17
Sandford, R.18
Zabel, B.19
Superti-Furga, A.20
Kohlhase, J.21
more..
-
102
-
-
3042805388
-
Malignant degeneration of presacral teratoma in the Currarino anomaly
-
Urioste M, Garcia-Andrade Mdel C, Valle L, Robledo M, González-Palacios F, Méndez R, Ferreirós J, Nuño J, Benítez J. 2004. Malignant degeneration of presacral teratoma in the Currarino anomaly. Am J Med Genet Part A 128A: 299-304.
-
(2004)
Am J Med Genet Part A
, vol.128 A
, pp. 299-304
-
-
Urioste, M.1
Garcia-Andrade Mdel, C.2
Valle, L.3
Robledo, M.4
González-Palacios, F.5
Méndez, R.6
Ferreirós, J.7
Nuño, J.8
Benítez, J.9
-
103
-
-
20944433656
-
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
-
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. 2005. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 37: 465-467.
-
(2005)
Nat Genet
, vol.37
, pp. 465-467
-
-
van Bokhoven, H.1
Celli, J.2
van Reeuwijk, J.3
Rinne, T.4
Glaudemans, B.5
van Beusekom, E.6
Rieu, P.7
Newbury-Ecob, R.A.8
Chiang, C.9
Brunner, H.G.10
-
104
-
-
51449090282
-
Molecular study of 33 families with Fraser syndrome new data and mutation review
-
Fraser Syndrome Collaboration Group
-
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. 2008. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet Part A 146A: 2252-2257.
-
(2008)
Am J Med Genet Part A
, vol.146 A
, pp. 2252-2257
-
-
van Haelst, M.M.1
Maiburg, M.2
Baujat, G.3
Jadeja, S.4
Monti, E.5
Bland, E.6
Pearce, K.7
Hennekam, R.C.8
Scambler, P.J.9
-
105
-
-
32944476196
-
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
-
Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. 2006. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 43: 148-152.
-
(2006)
J Med Genet
, vol.43
, pp. 148-152
-
-
Van Maldergem, L.1
Siitonen, H.A.2
Jalkh, N.3
Chouery, E.4
De Roy, M.5
Delague, V.6
Muenke, M.7
Jabs, E.W.8
Cai, J.9
Wang, L.L.10
Plon, S.E.11
Fourneau, C.12
Kestilä, M.13
Gillerot, Y.14
Mégarbané, A.15
Verloes, A.16
-
106
-
-
0015652687
-
Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae
-
Vera-Roman JM. 1973. Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. Am J Dis Child 126: 206-208.
-
(1973)
Am J Dis Child
, vol.126
, pp. 206-208
-
-
Vera-Roman, J.M.1
-
107
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
de Vries, B.B.5
Janssen, I.M.6
van der Vliet, W.A.7
Huys, E.H.8
de Jong, P.J.9
Hamel, B.C.10
Schoenmakers, E.F.11
Brunner, H.G.12
Veltman, J.A.13
van Kessel, A.G.14
-
108
-
-
78149435818
-
How I treat Diamond-Blackfan anemia
-
Vlachos A, Muir E. 2010. How I treat Diamond-Blackfan anemia. Blood 116: 3715-3723.
-
(2010)
Blood
, vol.116
, pp. 3715-3723
-
-
Vlachos, A.1
Muir, E.2
-
109
-
-
0035863626
-
Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications
-
Walsh LE, Vance GH, Weaver DD. 2001. Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications. Am J Med Genet 98: 137-144.
-
(2001)
Am J Med Genet
, vol.98
, pp. 137-144
-
-
Walsh, L.E.1
Vance, G.H.2
Weaver, D.D.3
-
110
-
-
0029908699
-
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2
-
Wang M, Clericuzio CL, Godfrey M. 1996. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 59: 1027-1034.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1027-1034
-
-
Wang, M.1
Clericuzio, C.L.2
Godfrey, M.3
-
111
-
-
33748594732
-
A previously unreported mutation in a Currarino syndrome kindred
-
Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM Jr. 2006. A previously unreported mutation in a Currarino syndrome kindred. Am J Med Genet Part A 140A: 1923-1930.
-
(2006)
Am J Med Genet Part A
, vol.140 A
, pp. 1923-1930
-
-
Wang, R.Y.1
Jones, J.R.2
Chen, S.3
Rogers, R.C.4
Friez, M.J.5
Schwartz, C.E.6
Graham Jr., J.M.7
-
112
-
-
0022640393
-
The VATER association. Analysis of 46 patients
-
Weaver DD, Mapstone CL, Yu PL. 1986. The VATER association. Analysis of 46 patients. Am J Dis Child 140: 225-229.
-
(1986)
Am J Dis Child
, vol.140
, pp. 225-229
-
-
Weaver, D.D.1
Mapstone, C.L.2
Yu, P.L.3
-
113
-
-
77953694949
-
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: A new polyalanine disorder?
-
Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B. 2010. Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: A new polyalanine disorder? J Med Genet 47: 351-355.
-
(2010)
J Med Genet
, vol.47
, pp. 351-355
-
-
Wessels, M.W.1
Kuchinka, B.2
Heydanus, R.3
Smit, B.J.4
Dooijes, D.5
de Krijger, R.R.6
Lequin, M.H.7
de Jong, E.M.8
Husen, M.9
Willems, P.J.10
Casey, B.11
-
114
-
-
25644460510
-
Adults with VATER association: Long-term prognosis
-
Wheeler PG, Weaver DD. 2005. Adults with VATER association: Long-term prognosis. Am J Med Genet Part A 138A: 212-217.
-
(2005)
Am J Med Genet Part A
, vol.138 A
, pp. 212-217
-
-
Wheeler, P.G.1
Weaver, D.D.2
-
115
-
-
33646162880
-
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
-
Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, Fitzpatrick DR. 2006. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 15: 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
Keng, W.T.7
Sharkey, F.H.8
McGill, N.9
Hill, C.J.10
Schneider, A.11
Messina, M.12
Turnpenny, P.D.13
Fantes, J.A.14
van Heyningen, V.15
Fitzpatrick, D.R.16
-
116
-
-
0036820924
-
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family
-
Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. 2002. Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. Ann Genet 45: 213-217.
-
(2002)
Ann Genet
, vol.45
, pp. 213-217
-
-
Wollnik, B.1
Kayserili, H.2
Uyguner, O.3
Tukel, T.4
Yuksel-Apak, M.5
-
117
-
-
33746555937
-
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
-
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. 2006. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet 79: 402-408.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 402-408
-
-
Woods, C.G.1
Stricker, S.2
Seemann, P.3
Stern, R.4
Cox, J.5
Sherridan, E.6
Roberts, E.7
Springell, K.8
Scott, S.9
Karbani, G.10
Sharif, S.M.11
Toomes, C.12
Bond, J.13
Kumar, D.14
Al-Gazali, L.15
Mundlos, S.16
|