Should chromosome breakage studies be performed in patients with VACTERL association?
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VACTERL/VATER AssociationFanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndromeOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologyThe genetic landscape and clinical implications of vertebral anomalies in VACTERL associationAn overview of isolated and syndromic oesophageal atresia.Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 geneCharacterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroupTargeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi AnemiaFanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case reportVentricular septal defect closure in a patient with VACTERL syndrome: anticipating sequelae in a rare genetic disorder.VATER/VACTERL Association: Evidence for the Role of Genetic FactorsVACTERL-H Association and Fanconi Anemia.Hereditary and familial syndromes of bone and blood. Genetic pathways, diagnostic pitfalls.Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumorGenetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts.Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality.DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.Fanconi anemia and solid malignancies in childhood: a national retrospective study.Genetic Testing in a Cohort of Complex Esophageal Atresia.Novel FANCI mutations in Fanconi anemia with VACTERL association.Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma
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Should chromosome breakage studies be performed in patients with VACTERL association?
description
article
@en
im Januar 2005 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у 2005
@uk
name
Should chromosome breakage studies be performed in patients with VACTERL association?
@en
Should chromosome breakage studies be performed in patients with VACTERL association?
@nl
type
label
Should chromosome breakage studies be performed in patients with VACTERL association?
@en
Should chromosome breakage studies be performed in patients with VACTERL association?
@nl
prefLabel
Should chromosome breakage studies be performed in patients with VACTERL association?
@en
Should chromosome breakage studies be performed in patients with VACTERL association?
@nl
P2093
P356
P1476
Should chromosome breakage studies be performed in patients with VACTERL association?
@en
P2093
Christel Thauvin-Robinet
Christopher G. Mathew
Clarisse Baumann
Frédéric Huet
Gerard Pals
Hans Joenje
Laurence Faivre
Marie France Portnoï
Martine Le Merrer
P356
10.1002/AJMG.A.30853
P407
P577
2005-01-01T00:00:00Z