Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

[1]  J. Downing,et al.  The biology of pediatric acute megakaryoblastic leukemia. , 2015, Blood.

[2]  Kali T. Witherspoon,et al.  Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.

[3]  D. Tibboel,et al.  Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies. , 2014, European journal of medical genetics.

[4]  E. van Binsbergen,et al.  A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis , 2014, American journal of medical genetics. Part A.

[5]  Bjarni V. Halldórsson,et al.  A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus , 2013, Journal of Medical Genetics.

[6]  R. Śmigiel,et al.  Chromosome aberrations and gene mutations in patients with esophageal atresia. , 2013, Journal of pediatric gastroenterology and nutrition.

[7]  D. Bertola,et al.  Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: possible role of the GSTP1 gene in esophagus malformation. , 2013, Birth defects research. Part A, Clinical and molecular teratology.

[8]  T. Slavin,et al.  Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts , 2013, Case reports in genetics.

[9]  E. Zackai,et al.  More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated , 2013, Molecular Syndromology.

[10]  M. Nöthen,et al.  De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association , 2013, European Journal of Human Genetics.

[11]  D. Tibboel,et al.  VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations , 2012, Molecular Syndromology.

[12]  A. Munnich,et al.  EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia , 2012, Journal of Medical Genetics.

[13]  H. Reutter,et al.  VATER/VACTERL Association: Evidence for the Role of Genetic Factors , 2012, Molecular Syndromology.

[14]  M. Nöthen,et al.  Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[15]  L. Vissers,et al.  De novo copy number variants associated with intellectual disability have a paternal origin and age bias , 2011, Journal of Medical Genetics.

[16]  D. Pineda-Alvarez,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 , 2011, Birth defects research. Part A, Clinical and molecular teratology.

[17]  Swaroop Aradhya,et al.  An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities , 2011, Genetics in Medicine.

[18]  Gregory M. Cooper,et al.  A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.

[19]  P. Calvas,et al.  A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. , 2011, European journal of medical genetics.

[20]  S. Lyonnet,et al.  Genetic Factors in Isolated and Syndromic Esophageal Atresia , 2011, Journal of pediatric gastroenterology and nutrition.

[21]  Anthony Johnson,et al.  Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia , 2011, Journal of Medical Genetics.

[22]  P. Stankiewicz,et al.  Phenotypic manifestations of copy number variation in chromosome 16p13.11 , 2011, European Journal of Human Genetics.

[23]  A. Munnich,et al.  Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia , 2011, European Journal of Human Genetics.

[24]  Ankita Patel,et al.  Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association , 2010, American journal of medical genetics. Part A.

[25]  Deborah A Nickerson,et al.  De novo rates and selection of large copy number variation. , 2010, Genome research.

[26]  M. Riegel,et al.  Esophageal stenosis in a child presenting a de novo 7q terminal deletion. , 2010, European journal of medical genetics.

[27]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[28]  P. Stankiewicz,et al.  Structural variation in the human genome and its role in disease. , 2010, Annual review of medicine.

[29]  E. Zackai,et al.  Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2 , 2009, American journal of medical genetics. Part A.

[30]  D. Tibboel,et al.  Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts. , 2009, Birth defects research. Part A, Clinical and molecular teratology.

[31]  B. V. van Bon,et al.  Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome , 2009, Journal of Medical Genetics.

[32]  Richard M Myers,et al.  Population analysis of large copy number variants and hotspots of human genetic disease. , 2009, American journal of human genetics.

[33]  S. Freeman,et al.  Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects , 2009, Clinical genetics.

[34]  Makoto Taiji,et al.  FGF9 monomer/dimer equilibrium regulates extracellular matrix affinity and tissue diffusion , 2009, Nature Genetics.

[35]  Tomas W. Fitzgerald,et al.  A robust statistical method for case-control association testing with copy number variation , 2008, Nature Genetics.

[36]  D. Tibboel,et al.  Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. , 2007, European journal of medical genetics.

[37]  S. Lyonnet,et al.  An overview of isolated and syndromic oesophageal atresia , 2007, Clinical genetics.

[38]  J. Siebert.  Birth defects research part A - Clinical and molecular teratology , 2006 .

[39]  M. Lu,et al.  LMCD1/Dyxin Is a Novel Transcriptional Cofactor That Restricts GATA6 Function by Inhibiting DNA Binding , 2005, Molecular and Cellular Biology.

[40]  J. Whitsett,et al.  Role of Sonic hedgehog in patterning of tracheal–bronchial cartilage and the peripheral lung , 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

[41]  T. Doetschman,et al.  Mice with a Targeted Disruption of the AE2 Exchanger Are Achlorhydric , 2004 .

[42]  I. Kola,et al.  Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16. , 2004, Gene.

[43]  J. Molkentin.  The Zinc Finger-containing Transcription Factors GATA-4, -5, and -6 , 2000, The Journal of Biological Chemistry.

[44]  L. Robson,et al.  How accurate does rapid fetal karyotyping need to be? Case of unbalanced t(13;18) , 1993, Prenatal diagnosis.

[45]  L. Goossens,et al.  Detection of subtle reciprocal translocations by fluorescence in situ hybridization , 1992, Clinical Genetics.

[46]  S. Temtamy,et al.  Extending the scope of the VATER association: definition of the VATER syndrome. , 1974, The Journal of pediatrics.

[47]  R. Mehta,et al.  ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23. , 2015, Genetic counseling.

[48]  A. van den Berg,et al.  GATA6 expression in Barrett's oesophagus and oesophageal adenocarcinoma. , 2015, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

[49]  N. de Leeuw,et al.  Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12. , 2014, European journal of medical genetics.

[50]  E. Garne,et al.  Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions , 2012, Archives of Disease in Childhood.

[51]  T. Doetschman,et al.  Mice with a targeted disruption of the AE2 Cl-/HCO3- exchanger are achlorhydric. , 2004, The Journal of biological chemistry.

[52]  David W. Smith,et al.  The VATER association , 1973 .

[53]  L. Quan,et al.  The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. , 1973, The Journal of pediatrics.