-
2
-
-
33747884104
-
Radial longitudinal deficiency: The incidence of associated medical and musculoskeletal conditions
-
Am
-
Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg [Am]. 2006;31:1176-82.
-
(2006)
J Hand Surg
, vol.31
, pp. 1176-1182
-
-
Goldfarb, C.A.1
Wall, L.2
Manske, P.R.3
-
4
-
-
73549113995
-
-
274000. CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
274000. CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm. nih.gov/entrez/dispomim.cgi?id=274000. Accessed 2009 Feb 24.
-
-
-
-
5
-
-
0014605655
-
Thrombocytopenia with absent radius (TAR)
-
Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). 1969;48:411-39.
-
(1969)
Medicine (Baltimore)
, vol.48
, pp. 411-439
-
-
Hall, J.G.1
Levin, J.2
Kuhn, J.P.3
Ottenheimer, E.J.4
van Berkum, K.A.5
McKusick, V.A.6
-
6
-
-
0023158893
-
Thrombocytopenia and absent radius (TAR) syndrome
-
Hall JG. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet. 1987;24:79-83.
-
(1987)
J Med Genet
, vol.24
, pp. 79-83
-
-
Hall, J.G.1
-
7
-
-
33846562388
-
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
-
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007;80:232-40.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 232-240
-
-
Klopocki, E.1
Schulze, H.2
Strauss, G.3
Ott, C.E.4
Hall, J.5
Trotier, F.6
Fleischhauer, S.7
Greenhalgh, L.8
Newbury-Ecob, R.A.9
Neumann, L.M.10
Habenicht, R.11
König, R.12
Seemanova, E.13
Megarbane, A.14
Ropers, H.H.15
Ullmann, R.16
Horn, D.17
Mundlos, S.18
-
8
-
-
73549086501
-
-
192350. VATER ASSOCIATION. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
192350. VATER ASSOCIATION. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi? id=192350. Accessed 2009 Feb 24.
-
-
-
-
9
-
-
0020623203
-
A population study of the VACTERL association: Evidence for its etiologic heterogeneity
-
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815-20.
-
(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
-
10
-
-
73549086729
-
-
314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314390. Accessed 2009 Feb 24.
-
-
-
-
11
-
-
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. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet. 2006;43:750-4.
-
(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
-
12
-
-
0029872994
-
VACTERL with the mitochondrial np 3243 point mutation
-
Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W. VACTERL with the mitochondrial np 3243 point mutation. Am J Med Genet. 1996;62:398-403.
-
(1996)
Am J Med Genet
, vol.62
, pp. 398-403
-
-
Damian, M.S.1
Seibel, P.2
Schachenmayr, W.3
Reichmann, H.4
Dorndorf, W.5
-
13
-
-
0031576223
-
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association
-
Stone DL, Biesecker LG. Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. Am J Med Genet. 1997;72:237-8.
-
(1997)
Am J Med Genet
, vol.72
, pp. 237-238
-
-
Stone, D.L.1
Biesecker, L.G.2
-
14
-
-
41449108846
-
VACTERL association and maternal diabetes: A possible causal relationship? Birth Defects Res A Clin Mol
-
Castori M, Rinaldi R, Capocaccia P, Roggini M, Grammatico P. VACTERL association and maternal diabetes: a possible causal relationship? Birth Defects Res A Clin Mol Teratol. 2008;82:169-72.
-
(2008)
Teratol
, vol.82
, pp. 169-172
-
-
Castori, M.1
Rinaldi, R.2
Capocaccia, P.3
Roggini, M.4
Grammatico, P.5
-
15
-
-
0028905946
-
Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human
-
Mbikay M, Seidah NG, Chrétien M, Simpson EM. Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. Genomics. 1995;26:123-9.
-
(1995)
Genomics
, vol.26
, pp. 123-129
-
-
Mbikay, M.1
Seidah, N.G.2
Chrétien, M.3
Simpson, E.M.4
-
16
-
-
44849135766
-
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
-
Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, Kaur K, Franklyn A, El Omari K, Jefferis J, Bentham J, Taylor JM, Schneider JE, Arnold SJ, Johnson P, Tymowska-Lalanne Z, Stammers D, Clarke K, Neubauer S, Morris A, Brown SD, Shaw-Smith C, Cama A, Capra V, Ragoussis J, Constam D, Seidah NG, Prat A, Bhattacharya S. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. Genes Dev. 2008;22:1465-77.
-
(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
Franklyn, A.7
El Omari, K.8
Jefferis, J.9
Bentham, J.10
Taylor, J.M.11
Schneider, J.E.12
Arnold, S.J.13
Johnson, P.14
Tymowska-Lalanne, Z.15
Stammers, D.16
Clarke, K.17
Neubauer, S.18
Morris, A.19
Brown, S.D.20
Shaw-Smith, C.21
Cama, A.22
Capra, V.23
Ragoussis, J.24
Constam, D.25
Seidah, N.G.26
Prat, A.27
Bhattacharya, S.28
more..
-
17
-
-
0035025182
-
The VACTERL association: Lessons from the Sonic hedgehog pathway
-
Kim J, Kim P, Hui CC. The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet. 2001;59:306-15.
-
(2001)
Clin Genet
, vol.59
, pp. 306-315
-
-
Kim, J.1
Kim, P.2
Hui, C.C.3
-
18
-
-
73549098155
-
-
142945 HOLOPROSENCEPHALY3.3; HPE 3. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
142945 HOLOPROSENCEPHALY3.3; HPE 3. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=142945. Accessed 2009 Feb 24.
-
-
-
-
19
-
-
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. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996;14:353-6.
-
(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
-
20
-
-
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. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996;14:357-60.
-
(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
-
21
-
-
73549094903
-
-
146510 PALLISTER-HALL SYNDROME; PHS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
146510 PALLISTER-HALL SYNDROME; PHS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=146510. Accessed 2009 Feb 24.
-
-
-
-
22
-
-
73549116989
-
-
175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm. nih.gov/entrez/dispomim.cgi?id=175700. Accessed 2009 Feb 24.
-
-
-
-
23
-
-
20144387269
-
-
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. 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. 2005;76:609-22.
-
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. 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. 2005;76:609-22.
-
-
-
-
24
-
-
0001466654
-
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization
-
Shin SH, Kogerman P, Lindström E, Toftgárd R, Biesecker LG. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci U S A. 1999;96:2880-4.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 2880-2884
-
-
Shin, S.H.1
Kogerman, P.2
Lindström, E.3
Toftgárd, R.4
Biesecker, L.G.5
-
25
-
-
17144429420
-
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins
-
Edison RJ, Muenke M. Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A. 2004;131:287-98.
-
(2004)
Am J Med Genet A
, vol.131
, pp. 287-298
-
-
Edison, R.J.1
Muenke, M.2
-
26
-
-
0029939211
-
A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: Preliminary report
-
Diez-Pardo JA, Baoquan Q, Navarro C, Tovar JA. A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: preliminary report. J Pediatr Surg. 1996;31:498-502.
-
(1996)
J Pediatr Surg
, vol.31
, pp. 498-502
-
-
Diez-Pardo, J.A.1
Baoquan, Q.2
Navarro, C.3
Tovar, J.A.4
-
27
-
-
73549097267
-
-
142900 HOLT-ORAM SYNDROME; HOS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
142900 HOLT-ORAM SYNDROME; HOS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=142900. Accessed 2009 Feb 24.
-
-
-
-
29
-
-
0030636780
-
-
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. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15:30-5. Erratum in: Nat Genet. 1997;15:411.
-
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. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15:30-5. Erratum in: Nat Genet. 1997;15:411.
-
-
-
-
30
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
-
Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. 1997;15:21-9.
-
(1997)
Nat Genet
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
Newbury-Ecob, R.A.2
Terrett, J.A.3
Wilson, D.I.4
Curtis, A.R.5
Yi, C.H.6
Gebuhr, T.7
Bullen, P.J.8
Robson, S.C.9
Strachan, T.10
Bonnet, D.11
Lyonnet, S.12
Young, I.D.13
Raeburn, J.A.14
Buckler, A.J.15
Law, D.J.16
Brook, J.D.17
-
31
-
-
8644260044
-
Transcriptional regulation of the murine Connexin40 promoter by cardiac factors Nkx2-5, GATA4 and Tbx5
-
Linhares VL, Almeida NA, Menezes DC, Elliott DA, Lai D, Beyer EC, Campos de Carvalho AC, Costa MW. Transcriptional regulation of the murine Connexin40 promoter by cardiac factors Nkx2-5, GATA4 and Tbx5. Cardiovasc Res. 2004;64:402-11.
-
(2004)
Cardiovasc Res
, vol.64
, pp. 402-411
-
-
Linhares, V.L.1
Almeida, N.A.2
Menezes, D.C.3
Elliott, D.A.4
Lai, D.5
Beyer, E.C.6
Campos de Carvalho, A.C.7
Costa, M.W.8
-
32
-
-
44949230354
-
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation
-
Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res. 2008;102:1433-42.
-
(2008)
Circ Res
, vol.102
, pp. 1433-1442
-
-
Postma, A.V.1
van de Meerakker, J.B.2
Mathijssen, I.B.3
Barnett, P.4
Christoffels, V.M.5
Ilgun, A.6
Lam, J.7
Wilde, A.A.8
Lekanne Deprez, R.H.9
Moorman, A.F.10
-
34
-
-
0038390974
-
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype
-
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet. 2003;73:74-85.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 74-85
-
-
Brassington, A.M.1
Sung, S.S.2
Toydemir, R.M.3
Le, T.4
Roeder, A.D.5
Rutherford, A.E.6
Whitby, F.G.7
Jorde, L.B.8
Bamshad, M.J.9
-
35
-
-
73549116715
-
-
607323 DUANE-RADIAL RAY SYNDROME; DRRS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
607323 DUANE-RADIAL RAY SYNDROME; DRRS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=607323. Accessed 2009 Feb 24.
-
-
-
-
36
-
-
0022227078
-
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness
-
Hayes A, Costa T, Polomeno RC. The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. Am J Med Genet. 1985;22:273-80.
-
(1985)
Am J Med Genet
, vol.22
, pp. 273-280
-
-
Hayes, A.1
Costa, T.2
Polomeno, R.C.3
-
37
-
-
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. 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. 2002;71:1195-9.
-
(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
-
38
-
-
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. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002;11:2979-87.
-
(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
-
39
-
-
31744444444
-
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart
-
Koshiba-Takeuchi K, Takeuchi JK, Arruda EP, Kathiriya IS, Mo R, Hui CC, Srivastava D, Bruneau BG. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet. 2006;38:175-83.
-
(2006)
Nat Genet
, vol.38
, pp. 175-183
-
-
Koshiba-Takeuchi, K.1
Takeuchi, J.K.2
Arruda, E.P.3
Kathiriya, I.S.4
Mo, R.5
Hui, C.C.6
Srivastava, D.7
Bruneau, B.G.8
-
40
-
-
73549109380
-
-
107480 TOWNES-BROCKS SYNDROME; TBS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
107480 TOWNES-BROCKS SYNDROME; TBS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=107480. Accessed 2009 Feb 24.
-
-
-
-
41
-
-
33847727918
-
Townes-Brocks syndrome: Twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
-
Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007;28:204-5.
-
(2007)
Hum Mutat
, vol.28
, pp. 204-205
-
-
Botzenhart, E.M.1
Bartalini, G.2
Blair, E.3
Brady, A.F.4
Elmslie, F.5
Chong, K.L.6
Christy, K.7
Torres-Martinez, W.8
Danesino, C.9
Deardorff, M.A.10
Fryns, J.P.11
Marlin, S.12
Garcia-Minaur, S.13
Hellenbroich, Y.14
Hay, B.N.15
Penttinen, M.16
Shashi, V.17
Terhal, P.18
Van Maldergem, L.19
Whiteford, M.L.20
Zackai, E.21
Kohlhase, J.22
more..
-
42
-
-
0031963876
-
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
-
Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998;18:81-3.
-
(1998)
Nat Genet
, vol.18
, pp. 81-83
-
-
Kohlhase, J.1
Wischermann, A.2
Reichenbach, H.3
Froster, U.4
Engel, W.5
-
43
-
-
73549095737
-
-
227650 FANCONI ANEMIA; FA. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
227650 FANCONI ANEMIA; FA. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi? id=227650. Accessed 2009 Feb 24.
-
-
-
-
44
-
-
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. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics. 1993;91:1116-20.
-
(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
-
45
-
-
29144506137
-
The Fanconi Anemia/BRCA pathway: New faces in the crowd
-
Kennedy RD, D'Andrea AD. The Fanconi Anemia/BRCA pathway: new faces in the crowd. Genes Dev. 2005;19:2925-40.
-
(2005)
Genes Dev
, vol.19
, pp. 2925-2940
-
-
Kennedy, R.D.1
D'Andrea, A.D.2
-
46
-
-
13344278020
-
Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia
-
Chen M, Tomkins DJ, Auerbach W, McKerlie C, Youssoufian H, Liu L, Gan O, Carreau M, Auerbach A, Groves T, Guidos CJ, Freedman MH, Cross J, Percy DH, Dick JE, Joyner AL, Buchwald M. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet. 1996;12:448-51.
-
(1996)
Nat Genet
, vol.12
, pp. 448-451
-
-
Chen, M.1
Tomkins, D.J.2
Auerbach, W.3
McKerlie, C.4
Youssoufian, H.5
Liu, L.6
Gan, O.7
Carreau, M.8
Auerbach, A.9
Groves, T.10
Guidos, C.J.11
Freedman, M.H.12
Cross, J.13
Percy, D.H.14
Dick, J.E.15
Joyner, A.L.16
Buchwald, M.17
-
47
-
-
0042519602
-
Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice
-
Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS, Grompe M. Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev. 2003;17:2021-35.
-
(2003)
Genes Dev
, vol.17
, pp. 2021-2035
-
-
Houghtaling, S.1
Timmers, C.2
Noll, M.3
Finegold, M.J.4
Jones, S.N.5
Meyn, M.S.6
Grompe, M.7
-
48
-
-
0042921156
-
Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia
-
Wong JC, Alon N, Mckerlie C, Huang JR, Meyn MS, Buchwald M. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet. 2003;12:2063-76.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2063-2076
-
-
Wong, J.C.1
Alon, N.2
Mckerlie, C.3
Huang, J.R.4
Meyn, M.S.5
Buchwald, M.6
-
49
-
-
53049109167
-
Ionizing radiation-induced gene modulations, cytokine content changes and telomere shortening in mouse fetuses exhibiting forelimb defects
-
Derradji H, Bekaert S, De Meyer T, Jacquet P, Abou-El-Ardat K, Ghardi M, Arlette M, Baatout S. Ionizing radiation-induced gene modulations, cytokine content changes and telomere shortening in mouse fetuses exhibiting forelimb defects. Dev Biol. 2008;322:302-13.
-
(2008)
Dev Biol
, vol.322
, pp. 302-313
-
-
Derradji, H.1
Bekaert, S.2
De Meyer, T.3
Jacquet, P.4
Abou-El-Ardat, K.5
Ghardi, M.6
Arlette, M.7
Baatout, S.8
-
50
-
-
73549114617
-
-
268400 ROTHMUND-THOMSON SYNDROME; RTS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
268400 ROTHMUND-THOMSON SYNDROME; RTS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=268400. Accessed 2009 Feb 24.
-
-
-
-
51
-
-
73549091906
-
-
266280 RAPADILINO SYNDROME. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
266280 RAPADILINO SYNDROME. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=266280. Accessed 2009 Feb 24.
-
-
-
-
52
-
-
73549115066
-
-
218600 BALLER-GEROLD SYNDROME; BGS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
-
218600 BALLER-GEROLD SYNDROME; BGS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=218600. Accessed 2009 Feb 24.
-
-
-
-
53
-
-
0032939991
-
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
-
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999;22:82-4.
-
(1999)
Nat Genet
, vol.22
, pp. 82-84
-
-
Kitao, S.1
Shimamoto, A.2
Goto, M.3
Miller, R.W.4
Smithson, W.A.5
Lindor, N.M.6
Furuichi, Y.7
-
54
-
-
0242609126
-
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
-
Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet. 2003;12:2837-44.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2837-2844
-
-
Siitonen, H.A.1
Kopra, O.2
Kääriäinen, H.3
Haravuori, H.4
Winter, R.M.5
Säämänen, A.M.6
Peltonen, L.7
Kestilä, M.8
-
55
-
-
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. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006;43:148-52.
-
(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
-
56
-
-
49749148494
-
RecQ family helicases in genome stability: Lessons from gene disruption studies in DT40 cells
-
Seki M, Otsuki M, Ishii Y, Tada S, Enomoto T. RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells. Cell Cycle. 2008;7:2472-8.
-
(2008)
Cell Cycle
, vol.7
, pp. 2472-2478
-
-
Seki, M.1
Otsuki, M.2
Ishii, Y.3
Tada, S.4
Enomoto, T.5
-
57
-
-
58349104333
-
The mutation spectrum in RECQL4 diseases
-
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009;17:151-8.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 151-158
-
-
Siitonen, H.A.1
Sotkasiira, J.2
Biervliet, M.3
Benmansour, A.4
Capri, Y.5
Cormier-Daire, V.6
Crandall, B.7
Hannula-Jouppi, K.8
Hennekam, R.9
Herzog, D.10
Keymolen, K.11
Lipsanen-Nyman, M.12
Miny, P.13
Plon, S.E.14
Riedl, S.15
Sarkar, A.16
Vargas, F.R.17
Verloes, A.18
Wang, L.L.19
Kääriäinen, H.20
Kestilä, M.21
more..
-
58
-
-
0042810698
-
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
-
Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet. 2003;12:1725-35.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1725-1735
-
-
Lettice, L.A.1
Heaney, S.J.2
Purdie, L.A.3
Li, L.4
de Beer, P.5
Oostra, B.A.6
Goode, D.7
Elgar, G.8
Hill, R.E.9
de Graaff, E.10
-
59
-
-
14844341770
-
Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
-
Sagai T, Hosoya M, Mizushina Y, Tamura M, Shiroishi T. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development. 2005;132:797-803.
-
(2005)
Development
, vol.132
, pp. 797-803
-
-
Sagai, T.1
Hosoya, M.2
Mizushina, Y.3
Tamura, M.4
Shiroishi, T.5
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