-
1
-
-
0031847019
-
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association
-
Al-Essa M, Rashed M, Ozand PT: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association. J Inher Metab Dis 21: 443-444 (1998).
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 443-444
-
-
Al-Essa, M.1
Rashed, M.2
Ozand, P.T.3
-
3
-
-
78049298308
-
Haploinsufficiency of the LIM domain containing preferred translocation partner in li-poma (LPP) genein patients with tetralogy of Fallot and VACTERL association
-
Arrington CB, Patel A, Bacino CA, Bowles NE: Haploinsufficiency of the LIM domain containing preferred translocation partner in li-poma (LPP) genein patients with tetralogy of Fallot and VACTERL association. Am J Med Genet A 152A:2919-2923 (2010).
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2919-2923
-
-
Arrington, C.B.1
Patel, A.2
Bacino, C.A.3
Bowles, N.E.4
-
4
-
-
0030340670
-
A case of VATER association associated with 9qh+
-
Aynaci FM, Celep F, Karaguzel A, Baki A, Yildi-ran A: A case of VATER association associated with 9qh+. Genet Couns 7: 321-322 (1996).
-
(1996)
Genet Couns
, vol.7
, pp. 321-322
-
-
Aynaci, F.M.1
Celep, F.2
Karaguzel, A.3
Baki, A.4
Yildi-Ran, A.5
-
5
-
-
84863986899
-
Inheritance of the VATER/VACTERL association
-
Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, et al: Inheritance of the VATER/VACTERL association. Pediatr Surg Int 28: 681-685 (2012a).
-
(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
-
6
-
-
84865960184
-
VATER/VACTERL association: Identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis
-
Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CH, et al: VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmor-phol 21: 191-195 (2012b).
-
(2012)
Clin Dysmor-phol
, vol.21
, pp. 191-195
-
-
Bartels, E.1
Schulz, A.C.2
Mora, N.W.3
Pineda-Alvarez, D.E.4
Wijers, C.H.5
-
7
-
-
0030911255
-
The spectrum of congenital anomalies of the VATER association: An international study
-
Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, et al: The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 71: 8-15 (1997).
-
(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
-
8
-
-
79955031510
-
From VACTERL-H to hetero-taxy: Variable expressivity of ZIC3-related disorders
-
Chung B, Shaffer LG, Keating S, Johnson J, Casey B, Chitayat D: From VACTERL-H to hetero-taxy: variable expressivity of ZIC3-related disorders. Am J Med Genet A 155A:1123-1128 (2011).
-
(2011)
Am J Med Genet 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
-
9
-
-
0035256523
-
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association
-
Cinti R, Priolo M, Lerone M, Gimelli G, Seri M, et al: Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association. J Med Genet 38:E6 (2001).
-
(2001)
J Med Genet
, vol.38
, pp. E6
-
-
Cinti, R.1
Priolo, M.2
Lerone, M.3
Gimelli, G.4
Seri, M.5
-
10
-
-
0022374474
-
An aetiological study of the VACTERL-association
-
Czeizel A, Ludányi I: An aetiological study of the VACTERL-association. Eur J Pediatr 144: 331-337 (1985).
-
(1985)
Eur J Pediatr
, vol.144
, pp. 331-337
-
-
Czeizel, A.1
Ludányi, I.2
-
11
-
-
77958476031
-
5q11.2 deletion in a patient with tracheal agenesis
-
de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, et al: 5q11.2 deletion in a patient with tracheal agenesis. Eur J Hum Genet 18: 1265-1268 (2010).
-
(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
-
12
-
-
23344449113
-
Should chromosome breakage studies be performed in patients with VACTERL association?
-
Faivre L, Portnoï MF, Pals G, Stoppa-Lyonett D, Le Merrer M, et al: Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 137: 55-58 (2005).
-
(2005)
Am J Med Genet A
, vol.137
, pp. 55-58
-
-
Faivre, L.1
Portnoï, M.F.2
Pals, G.3
Stoppa-Lyonett, D.4
Le Merrer, M.5
-
13
-
-
57149100183
-
Identification of a HOXD13 mutation in a VACTERL patient
-
Garcia-Barceló MM, Wong KK, Lui VC, Yuan ZW, So MT, et al: Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A 146A:3181-3185 (2008).
-
(2008)
Am J Med Genet 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
-
14
-
-
33745013075
-
The LIM domain protein LPP is a coactivator for the ETS domain transcription factor PEA3
-
Guo B, Sallis RE, Greenall A, Petit MM, Jansen E, et al: The LIM domain protein LPP is a coactivator for the ETS domain transcription factor PEA3. Mol Cell Biol 26: 4529-4538 (2006).
-
(2006)
Mol Cell Biol
, vol.26
, pp. 4529-4538
-
-
Guo, B.1
Sallis, R.E.2
Greenall, A.3
Petit, M.M.4
Jansen, E.5
-
15
-
-
84862650486
-
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association
-
Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, et al: Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A 158A:1785-1787 (2012).
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 1785-1787
-
-
Hernández-García, A.1
Brosens, E.2
Zaveri, H.P.3
De Jong, E.M.4
Yu, Z.5
-
16
-
-
84863985843
-
Familial occurrence of the VATER/VACTERL association
-
Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, et al: Familial occurrence of the VATER/VACTERL association. Pediatr Surg Int 28: 725-729 (2012).
-
(2012)
Pediatr Surg Int
, vol.28
, pp. 725-729
-
-
Hilger, A.1
Schramm, C.2
Draaken, M.3
Mughal, S.S.4
Dworschak, G.5
-
17
-
-
66449115036
-
PTEN, stem cells, and cancer stem cells
-
Hill R, Wu H: PTEN, stem cells, and cancer stem cells. J Biol Chem 284: 11755-11759 (2009).
-
(2009)
J Biol Chem
, vol.284
, pp. 11755-11759
-
-
Hill, R.1
Wu, H.2
-
18
-
-
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 43: 750-754 (2006).
-
(2006)
J Med Genet
, vol.43
, pp. 750-754
-
-
Holden, S.T.1
Cox, J.J.2
Kesterton, I.3
Thomas, N.S.4
Carr, C.5
Woods, C.G.6
-
19
-
-
0003592368
-
-
Rome, International Center for Birth Defects
-
International Clearinghouse for Birth Defects Monitoring Systems: Annual Report 1992. Rome, International Center for Birth Defects (1994).
-
(1994)
Annual Report 1992
-
-
-
20
-
-
0020623203
-
A population study of the VAC-TERL association: Evidence for its etiologic heterogeneity
-
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD: A population study of the VAC-TERL association: evidence for its etiologic heterogeneity. Pediatrics 71: 815-820 (1983).
-
(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
-
21
-
-
0035141226
-
Murine models of VAC-TERL syndrome: Role of sonic hedgehog signaling pathway
-
Kim PC, Mo R, Hui CC: Murine models of VAC-TERL syndrome: role of sonic hedgehog signaling pathway. J Pediatr Surg 36: 381-384 (2001).
-
(2001)
J Pediatr Surg
, vol.36
, pp. 381-384
-
-
Kim, P.C.1
Mo, R.2
Hui, C.C.3
-
22
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, et al: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32: 285-289 (2002).
-
(2002)
Nat Genet
, vol.32
, pp. 285-289
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
Bjork, B.C.4
Knight, A.S.5
-
23
-
-
0026000570
-
An ICBDMS collaborative study: Monitoring multimalformed infants
-
Mastroiacovo P: An ICBDMS collaborative study: Monitoring multimalformed infants. Int J Risk Safety Med 2: 255-270 (1991).
-
(1991)
Int J Risk Safety Med
, vol.2
, pp. 255-270
-
-
Mastroiacovo, P.1
-
24
-
-
0017756843
-
Congenital anomalies including the VATER association in a patient with del(6)q deletion
-
McNeal RM, Skoglund RR, Francke U: Congenital anomalies including the VATER association in a patient with del(6)q deletion. J Pedi-atr 91: 957-960 (1977).
-
(1977)
J Pedi-atr
, vol.91
, pp. 957-960
-
-
McNeal, R.M.1
Skoglund, R.R.2
Francke, U.3
-
26
-
-
36049042956
-
Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease
-
Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA: Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. J Pediatr Surg 42: 1928-1932 (2007).
-
(2007)
J Pediatr Surg
, vol.42
, pp. 1928-1932
-
-
Prieto, J.C.1
Garcia, N.M.2
Elder, F.F.3
Zinn, A.R.4
Baker, L.A.5
-
27
-
-
0015541929
-
The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dys-plasia: A spectrum of associated defects
-
Quan L, Smith DW: The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dys-plasia: a spectrum of associated defects. J Pe-diatr 82: 104-107 (1973).
-
(1973)
J Pe-diatr
, vol.82
, pp. 104-107
-
-
Quan, L.1
Smith, D.W.2
-
28
-
-
0035666018
-
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
-
Reardon W, Zhou XP, Eng C: A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet 38: 820-823 (2001).
-
(2001)
J Med Genet
, vol.38
, pp. 820-823
-
-
Reardon, W.1
Zhou, X.P.2
Eng, C.3
-
29
-
-
0034927358
-
The genetic epidemiology of cancer: Interpreting family and twin studies and their implications for molecular genetic approaches
-
Risch N: The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol Biomarkers Prev 10: 733-741 (2001).
-
(2001)
Cancer Epidemiol Biomarkers Prev
, vol.10
, pp. 733-741
-
-
Risch, N.1
-
30
-
-
79951946271
-
De novo microduplication at 22q11.21 in a patient with VACTERL association
-
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, et al: De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet 54: 9-13 (2011).
-
(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
-
32
-
-
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, et al: 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).
-
(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
-
33
-
-
44849135766
-
VACTERL/caudal regres-sion/Currarino syndrome-like malformations in mice with mutations in the propro-tein convertase Pcsk5
-
Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, et al: VACTERL/caudal regres-sion/Currarino syndrome-like malformations in mice with mutations in the propro-tein convertase Pcsk5. Genes Dev 22: 1465-1477 (2008).
-
(2008)
Genes Dev
, vol.22
, pp. 1465-1477
-
-
Szumska, D.1
Pieles, G.2
Essalmani, R.3
Bilski, M.4
Mesnard, D.5
-
34
-
-
77954344374
-
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
-
van der Veken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, et al: Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. Mol Cyto-genet 3: 13 (2010).
-
(2010)
Mol Cyto-genet
, vol.3
, pp. 13
-
-
Van Der Veken, L.T.1
Dieleman, M.M.2
Douben, H.3
Van De Brug, J.C.4
Van De Graaf, R.5
-
35
-
-
0035863626
-
Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications
-
Walsh LE, Vance GH, Weaver DD: Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet 98: 137-144 (2001).
-
(2001)
Am J Med Genet
, vol.98
, pp. 137-144
-
-
Walsh, L.E.1
Vance, G.H.2
Weaver, D.D.3
-
36
-
-
77953694949
-
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: A new polyala-nine disorder?
-
Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, et al: Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyala-nine disorder? J Med Genet 47: 351-355 (2010).
-
(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
-
37
-
-
66949112210
-
Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter
-
Yamada K, Uchiyama A, Arai M, Kubodera K, Yamamoto Y, et al: Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter. Congenit Anom (Kyoto) 49: 85-88 (2009).
-
(2009)
Congenit Anom (Kyoto)
, vol.49
, pp. 85-88
-
-
Yamada, K.1
Uchiyama, A.2
Arai, M.3
Kubodera, K.4
Yamamoto, Y.5
-
38
-
-
52649109709
-
Monozygotic female twins discordant for Silver-Russell syndrome and hy-pomethylation of the H19-DMR
-
Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T: Monozygotic female twins discordant for Silver-Russell syndrome and hy-pomethylation of the H19-DMR. J Hum Genet 53: 950-955 (2008).
-
(2008)
J Hum Genet
, vol.53
, pp. 950-955
-
-
Yamazawa, K.1
Kagami, M.2
Fukami, M.3
Matsubara, K.4
Ogata, T.5
-
39
-
-
77956912119
-
Esophageal stenosis in a child presenting a de novo 7q terminal deletion
-
Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, et al: Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Eur J Med Genet 53: 333-336 (2010).
-
(2010)
Eur J Med Genet
, vol.53
, pp. 333-336
-
-
Zen, P.R.1
Riegel, M.2
Rosa, R.F.3
Pinto, L.L.4
Graziadio, C.5
|