-
1
-
-
0021914513
-
Congenital heart disease: Prevalence at livebirth. The Baltimore-Washington Infant Study
-
C. Ferencz, J.D. Rubin, and R.J. McCarter Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study Am J Epidemiol 121 1985 31 36
-
(1985)
Am J Epidemiol
, vol.121
, pp. 31-36
-
-
Ferencz, C.1
Rubin, J.D.2
McCarter, R.J.3
-
2
-
-
17444434198
-
Frequency of 22q11 deletions in patients with conotruncal defects
-
E. Goldmuntz, B.J. Clark, and L.E. Mitchell Frequency of 22q11 deletions in patients with conotruncal defects J Am Coll Cardiol 32 1998 492 498
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 492-498
-
-
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
-
3
-
-
52049116340
-
Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management
-
A.E. Lin, C.T. Basson, and E. Goldmuntz Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management Genet Med 10 2008 469 494
-
(2008)
Genet Med
, vol.10
, pp. 469-494
-
-
Lin, A.E.1
Basson, C.T.2
Goldmuntz, E.3
-
4
-
-
17144468115
-
Frequent association of 22q11.2 deletion with tetralogy of Fallot
-
J. Maeda, H. Yamagishi, and R. Matsuoka Frequent association of 22q11.2 deletion with tetralogy of Fallot Am J Med Genet 92 2000 269 272
-
(2000)
Am J Med Genet
, vol.92
, pp. 269-272
-
-
Maeda, J.1
Yamagishi, H.2
Matsuoka, R.3
-
5
-
-
68149181705
-
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
-
S.C. Greenway, A.C. Pereira, and J.C. Lin De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot Nat Genet 41 2009 931 935
-
(2009)
Nat Genet
, vol.41
, pp. 931-935
-
-
Greenway, S.C.1
Pereira, A.C.2
Lin, J.C.3
-
6
-
-
56349136292
-
Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease
-
W.L.A. Fung, E.W.C. Chow, and G.D. Webb Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease Int J Cardiol 131 2008 51 58
-
(2008)
Int J Cardiol
, vol.131
, pp. 51-58
-
-
Fung, W.L.A.1
Chow, E.W.C.2
Webb, G.D.3
-
7
-
-
57049132697
-
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
-
A.S. Bassett, C.R. Marshall, and A.C. Lionel Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome Hum Mol Genet 17 2008 4045 4053
-
(2008)
Hum Mol Genet
, vol.17
, pp. 4045-4053
-
-
Bassett, A.S.1
Marshall, C.R.2
Lionel, A.C.3
-
8
-
-
0021048051
-
A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism
-
A. Benn, D. Warburton, and J.M. Byrne A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism Prenat Diagn 3 1983 297 302
-
(1983)
Prenat Diagn
, vol.3
, pp. 297-302
-
-
Benn, A.1
Warburton, D.2
Byrne, J.M.3
-
9
-
-
0032960849
-
Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46, XX, r(13)(p11q14)/46, XX, der(13)t(13;13)(q10;q14)
-
M. Gentile, A.L. Buonadonna, and F. Cariola Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46, XX, r(13)(p11q14)/46, XX, der(13)t(13;13)(q10;q14) J Med Genet 36 1999 77 82
-
(1999)
J Med Genet
, vol.36
, pp. 77-82
-
-
Gentile, M.1
Buonadonna, A.L.2
Cariola, F.3
-
10
-
-
62149141331
-
Genetic syndromes and congenital heart defects: How is surgical management affected?
-
R. Formigari, G. Michielon, and M.C. Digilio Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg 35 2009 606 614
-
(2009)
Eur J Cardiothorac Surg
, vol.35
, pp. 606-614
-
-
Formigari, R.1
Michielon, G.2
Digilio, M.C.3
-
11
-
-
32644487801
-
Genetic syndromes and outcome after surgical correction of tetralogy of Fallot
-
G. Michielon, B. Marino, and R. Formigari Genetic syndromes and outcome after surgical correction of tetralogy of Fallot Ann Thorac Surg 81 2006 968 975
-
(2006)
Ann Thorac Surg
, vol.81
, pp. 968-975
-
-
Michielon, G.1
Marino, B.2
Formigari, R.3
-
12
-
-
34248193319
-
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking
-
J.C. Bakowska, H. Jupille, and P. Fatheddin Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking Mol Biol Cell 18 2007 1683 1692
-
(2007)
Mol Biol Cell
, vol.18
, pp. 1683-1692
-
-
Bakowska, J.C.1
Jupille, H.2
Fatheddin, P.3
-
13
-
-
42249105030
-
Genes in congenital heart disease: Atrioventricular valve formation
-
I.C. Joziasse, J.J. van de Smagt, and K. Smith Genes in congenital heart disease: atrioventricular valve formation Basic Res Cardiol 103 2008 216 227
-
(2008)
Basic Res Cardiol
, vol.103
, pp. 216-227
-
-
Joziasse, I.C.1
Van De Smagt, J.J.2
Smith, K.3
-
14
-
-
33748673792
-
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
-
S.A. Lesnik Oberstein, M. Kriek, and S.J. White Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase Am J Hum Genet 79 2006 562 566
-
(2006)
Am J Hum Genet
, vol.79
, pp. 562-566
-
-
Lesnik Oberstein, S.A.1
Kriek, M.2
White, S.J.3
-
15
-
-
60549083110
-
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1, 3-glucosyltransferase that modifies thrombospondin type 1 repeats
-
T.Y. Heinonen, and M. Maki Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1, 3-glucosyltransferase that modifies thrombospondin type 1 repeats Ann Med 41 2009 2 10
-
(2009)
Ann Med
, vol.41
, pp. 2-10
-
-
Heinonen, T.Y.1
Maki, M.2
-
17
-
-
0015541929
-
The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects
-
L. Quan, and D.W. Smith 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 1973 104 107
-
(1973)
J Pediatr
, vol.82
, pp. 104-107
-
-
Quan, L.1
Smith, D.W.2
-
18
-
-
0022640393
-
The VATER association. Analysis of 46 patients
-
D.D. Weaver, C.L. Mapstone, and P.L. Yu The VATER association. Analysis of 46 patients Am J Dis Child 140 1986 225 229
-
(1986)
Am J Dis Child
, vol.140
, pp. 225-229
-
-
Weaver, D.D.1
Mapstone, C.L.2
Yu, P.L.3
-
19
-
-
0030726834
-
Radial aplasia and chromosome 22q11 deletion
-
M.C. Digilio, A. Giannotti, and B. Marino Radial aplasia and chromosome 22q11 deletion J Med Genet 34 1997 942 944
-
(1997)
J Med Genet
, vol.34
, pp. 942-944
-
-
Digilio, M.C.1
Giannotti, A.2
Marino, B.3
-
20
-
-
33745906255
-
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: Review of genetics and epidemiology
-
C. Shaw-Smith Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology J Med Genet 43 2006 545 554
-
(2006)
J Med Genet
, vol.43
, pp. 545-554
-
-
Shaw-Smith, C.1
-
21
-
-
0026569471
-
Unbalanced 13;18 translocation and Williams syndrome
-
A. Colley, Y. Thakker, and H. Ward Unbalanced 13;18 translocation and Williams syndrome J Med Genet 29 1992 63 65
-
(1992)
J Med Genet
, vol.29
, pp. 63-65
-
-
Colley, A.1
Thakker, Y.2
Ward, H.3
-
22
-
-
0034542544
-
Circulatory effects of acute bradycardia in the human fetus as studied by Doppler ultrasound
-
U. Gembruch, and A.A. Baschat Circulatory effects of acute bradycardia in the human fetus as studied by Doppler ultrasound Ultrasound Obstet Gynecol 15 2000 424 427
-
(2000)
Ultrasound Obstet Gynecol
, vol.15
, pp. 424-427
-
-
Gembruch, U.1
Baschat, A.A.2
-
23
-
-
0017060019
-
Sporadic bilateral retinoblastoma and 13q- chromosomal deletion
-
U. Francke, and F. Kung Sporadic bilateral retinoblastoma and 13q- chromosomal deletion Med Pediatr Oncol 2 1976 379 385
-
(1976)
Med Pediatr Oncol
, vol.2
, pp. 379-385
-
-
Francke, U.1
Kung, F.2
-
24
-
-
0016278606
-
Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13
-
R.O. Howard, W.R. Breg, and D.M. Albert Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13 Arch Ophthalmol 92 1974 490 493
-
(1974)
Arch Ophthalmol
, vol.92
, pp. 490-493
-
-
Howard, R.O.1
Breg, W.R.2
Albert, D.M.3
-
25
-
-
0018145013
-
A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)
-
R. Walbaum, P. Francois, and J.P. Farriaux A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl) Hum Genet 44 1978 219 226
-
(1978)
Hum Genet
, vol.44
, pp. 219-226
-
-
Walbaum, R.1
Francois, P.2
Farriaux, J.P.3
-
26
-
-
0017735383
-
Chromosomal anomalies in patients with retinoblastoma
-
M.G. Wilson, A.J. Ebbin, and J.W. Towner Chromosomal anomalies in patients with retinoblastoma Clin Genet 12 1977 1 8
-
(1977)
Clin Genet
, vol.12
, pp. 1-8
-
-
Wilson, M.G.1
Ebbin, A.J.2
Towner, J.W.3
-
27
-
-
0014898511
-
Dq-, Dr and retinoblastoma
-
A.I. Taylor Dq-, Dr and retinoblastoma Humangenetik 10 1970 209 217
-
(1970)
Humangenetik
, vol.10
, pp. 209-217
-
-
Taylor, A.I.1
-
28
-
-
0019913479
-
Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother
-
K. Michalova, F. Kloucek, and J. Musilova Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother Hum Genet 61 1982 264 266
-
(1982)
Hum Genet
, vol.61
, pp. 264-266
-
-
Michalova, K.1
Kloucek, F.2
Musilova, J.3
-
29
-
-
0018608267
-
Interstitial deletion 13q syndromes: A report on two unrelated patients
-
M. Serena-Lungarotti, A. Calabro, and G. Mariotti Interstitial deletion 13q syndromes: a report on two unrelated patients Hum Genet 52 1979 269 274
-
(1979)
Hum Genet
, vol.52
, pp. 269-274
-
-
Serena-Lungarotti, M.1
Calabro, A.2
Mariotti, G.3
-
30
-
-
0020471341
-
Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14
-
J.J. Hoo, M. Koch, and B. Ziemsen Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14 Hum Genet 60 1982 276 277
-
(1982)
Hum Genet
, vol.60
, pp. 276-277
-
-
Hoo, J.J.1
Koch, M.2
Ziemsen, B.3
-
32
-
-
0018331054
-
Interstital deletion of 13q associated with retinoblastoma and congenital malformations
-
P. Petit, and J.P. Fryns Interstital deletion of 13q associated with retinoblastoma and congenital malformations Ann Génét 22 1979 106 107
-
(1979)
Ann Génét
, vol.22
, pp. 106-107
-
-
Petit, P.1
Fryns, J.P.2
-
33
-
-
0036135524
-
Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter
-
M. Drummond-Borg, A.S. Kulharya, and V. Tonk Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter Am J Med Genet 107 2002 61 63
-
(2002)
Am J Med Genet
, vol.107
, pp. 61-63
-
-
Drummond-Borg, M.1
Kulharya, A.S.2
Tonk, V.3
-
34
-
-
0027402372
-
Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
-
S. Brown, S. Gersen, and K. Anyane-Yeboa Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature Am J Med Genet 45 1993 52 59
-
(1993)
Am J Med Genet
, vol.45
, pp. 52-59
-
-
Brown, S.1
Gersen, S.2
Anyane-Yeboa, K.3
-
35
-
-
0020627270
-
A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q
-
T. Motegi, M. Kaga, and Y. Yanagawa A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q Hum Genet 64 1983 160 162
-
(1983)
Hum Genet
, vol.64
, pp. 160-162
-
-
Motegi, T.1
Kaga, M.2
Yanagawa, Y.3
-
36
-
-
0035076386
-
Aneurysm of the ductus arteriosus in a neonate with 13q-deletion
-
G. Naulaers, K. Devriendt, and P. Moerman Aneurysm of the ductus arteriosus in a neonate with 13q-deletion Am J Perinatol 18 2001 11 14
-
(2001)
Am J Perinatol
, vol.18
, pp. 11-14
-
-
Naulaers, G.1
Devriendt, K.2
Moerman, P.3
-
37
-
-
63749095019
-
Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux
-
N.L. Champaigne, N.A. Laird, and J.K. Northup Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux Am J Med Genet A 149A 2009 751 754
-
(2009)
Am J Med Genet A
, vol.149
, pp. 751-754
-
-
Champaigne, N.L.1
Laird, N.A.2
Northup, J.K.3
-
38
-
-
0023199873
-
Deletion (13)(q13q14.3) with retinoblastoma: Confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion
-
T. Motegi, K. Ikeda, and K. Watanabe Deletion (13)(q13q14.3) with retinoblastoma: confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion J Med Genet 24 1987 696 697
-
(1987)
J Med Genet
, vol.24
, pp. 696-697
-
-
Motegi, T.1
Ikeda, K.2
Watanabe, K.3
-
39
-
-
0019802336
-
Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase
-
H. Rivera, C. Turleau, and J. de Grouchy Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D Hum Genet 59 1981 211 214
-
(1981)
D Hum Genet
, vol.59
, pp. 211-214
-
-
Rivera, H.1
Turleau, C.2
De Grouchy, J.3
-
40
-
-
0020528733
-
Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion
-
C. Turleau, J. de Grouchy, and F. Chavin-Colin Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion Ann Génét 26 1983 158 160
-
(1983)
Ann Génét
, vol.26
, pp. 158-160
-
-
Turleau, C.1
De Grouchy, J.2
Chavin-Colin, F.3
-
41
-
-
0023991115
-
Interstitial deletion 13q: Further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients
-
L. Tranebjaerg, K.B. Nielsen, and N. Tommerup Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients Am J Med Genet 29 1988 739 753
-
(1988)
Am J Med Genet
, vol.29
, pp. 739-753
-
-
Tranebjaerg, L.1
Nielsen, K.B.2
Tommerup, N.3
-
42
-
-
0019183061
-
Retinoblastoma and interstitial deletion of 13q (author's transl)
-
J. De Grouchy, C. Turleau, and M.O. Cabanis Retinoblastoma and interstitial deletion of 13q (author's transl) Arch Fr Pédiatr 37 1980 531 535
-
(1980)
Arch Fr Pédiatr
, vol.37
, pp. 531-535
-
-
De Grouchy, J.1
Turleau, C.2
Cabanis, M.O.3
-
43
-
-
0018357569
-
Partial triplication and deletion of 13q: Study of a family presenting with bilateral retinoblastomas
-
V.M. Riccardi, H.M. Hittner, and U. Francke Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas Clin Genet 15 1979 332 345
-
(1979)
Clin Genet
, vol.15
, pp. 332-345
-
-
Riccardi, V.M.1
Hittner, H.M.2
Francke, U.3
-
44
-
-
0032557728
-
Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13
-
B.J. Weigel, M.E. Pierpont, and T.L. Young Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13 Am J Med Genet 77 1998 285 288
-
(1998)
Am J Med Genet
, vol.77
, pp. 285-288
-
-
Weigel, B.J.1
Pierpont, M.E.2
Young, T.L.3
-
45
-
-
0022939119
-
Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus
-
G.N. Wilson, M. Dasouki, and M. Barr Jr Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus Am J Med Genet Suppl 2 1986 65 72
-
(1986)
Am J Med Genet Suppl
, vol.2
, pp. 65-72
-
-
Wilson, G.N.1
Dasouki, M.2
Barr Jr., M.3
-
46
-
-
0024905706
-
Aneuploidy with neural tube defects: Another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein
-
A. Drugan, M.P. Johnson, and E. Dvorin Aneuploidy with neural tube defects: another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein Fetal Ther 4 1989 88 92
-
(1989)
Fetal Ther
, vol.4
, pp. 88-92
-
-
Drugan, A.1
Johnson, M.P.2
Dvorin, E.3
-
47
-
-
0037810302
-
Molecular genetic delineation of a deletion of chromosome 13q12- > q13 in a patient with autism and auditory processing deficits
-
M. Smith, A. Woodroffe, and R. Smith Molecular genetic delineation of a deletion of chromosome 13q12- > q13 in a patient with autism and auditory processing deficits Cytogenet Genome Res 98 2002 233 239
-
(2002)
Cytogenet Genome Res
, vol.98
, pp. 233-239
-
-
Smith, M.1
Woodroffe, A.2
Smith, R.3
-
48
-
-
57549110416
-
Ethical authorship and publishing
-
A.J. Coats Ethical authorship and publishing Int J Cardiol 131 2009 149 150
-
(2009)
Int J Cardiol
, vol.131
, pp. 149-150
-
-
Coats, A.J.1
|