What's New

Last Posted: Dec 05, 2023

• Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.
  Mangalore S Shravya et al. Clin Dysmorphol 2023
• No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood.
  Dang Kien Xuan, et al. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2017 0 (5) 413-419
• Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
  Blackburn Patrick R, et al. American journal of medical genetics. Part A 2018 0 (12) 2710-2719
• Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing.
  Feng Yu, et al. Gene 2018 0 182-188
• Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
  Tumini Stefano, et al. Cytogenetic and genome research 2019 0 (3) 121-125
• A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
  van de Putte Romy, et al. Frontiers in pediatrics 2020 0 310
• Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
  Zhang Rong, et al. PloS one 2020 0 (6) e0234246
• Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.
  Wang Jiayao, et al. European journal of human genetics : EJHG 2020 0 (1) 122-130
• Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.
  Moreno Olga M, et al. Molecular syndromology 2021 0 (5-6) 271-283
• Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
  Zhong Guojie, et al. HGG advances 2022 0 (3) 100126
• Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
  Zhong Guojie, et al. HGG advances 2022 0 (3) 100107
• Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
  Thiem Corina E, et al. Birth defects research 2022 0 (10) 478-486
• Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia.
  Ten Kate Chantal A, et al. Cancers 2022 0 (3)
• Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
  Ranza Emmanuelle et al. American journal of medical genetics. Part A 2022
• First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
  Gehlen Jan, et al. HGG advances 2022 0 (2) 100093
• The association between polymorphisms in PITX2 and congenital esophageal atresia susceptibility.
  Ke Jiangwei, et al. American journal of translational research 2021 0 (8) 9808-9813
• Pharmacogenomics fail to explain proton pump inhibitor refractory esophagitis in pediatric esophageal atresia.
  Yasuda Jessica L, et al. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2021 8 e14217
• Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
  Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
• Genetic Testing in a Cohort of Complex Esophageal Atresia.
  Beauregard-Lacroix Eliane et al. Molecular syndromology 2017 Aug 8(5) 236-243
• Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
  Hilger Alina C, et al. Human mutation 2015 8
• Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
  Zeidler Claudia, et al. Birth defects research. Part A, Clinical and molecular teratology 2014 10 (10) 750-9
• Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
  Winberg Johanna, et al. PloS one 2014 0 (1) e85313
• De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
  Hilger Alina, et al. European journal of human genetics : EJHG 2013 12 (12) 1377-82
• Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.
  Murphy Andrew J, et al. Pediatric surgery international 2012 4 (4) 335-40
• Anophthalmia esophageal atresia cryptorchidism
  From NCATS Genetic and Rare Diseases Information Center
• Esophageal atresia
  From NCATS Genetic and Rare Diseases Information Center
• Esophageal atresia coloboma talipes
  From NCATS Genetic and Rare Diseases Information Center
• Evidence that polymorphic deletion of the glutathione S-transferase gene, GSTM1, is associated with esophageal atresia.
  Filonzi Laura, et al. Birth defects research. Part A, Clinical and molecular teratology 2010 9 (9) 743-7