Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology (Q24655057)

Journal of Medical Genetics

Europe PubMed Central

title

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology (English)

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1 reference

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C Shaw-Smith

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language of work or name

English

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publication date

July 2006

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published in

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volume

43

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page(s)

545-54

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issue

7

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cites work

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Townes-Brocks syndrome

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VACTERL with hydrocephalus: family with X-linked VACTERL-H.

30 May 2018

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Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome

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Should chromosome breakage studies be performed in patients with VACTERL association?

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28 November 2018

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Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association

28 November 2018

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28 November 2018

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Chromo-domain proteins: linking chromatin structure to epigenetic regulation.

28 November 2018

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28 November 2018

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28 November 2018

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X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.

28 November 2018

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Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomalies

28 November 2018

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Extending the scope of the VATER association: definition of the VATER syndrome

28 November 2018

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VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene

28 November 2018

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12 December 2020

Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)

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12 December 2020

Birth defects and oral contraceptives

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12 December 2020

Congenital anomalies including the VATER association in a patient with del(6)q deletion

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12 December 2020

A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism

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12 December 2020

An aetiological study of the VACTERL-association

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12 December 2020

Oesophageal atresia, related malformations, and medical problems: a family study

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12 December 2020

Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome

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12 December 2020

Anophthalmia-esophageal-genital syndrome: a further case to define the phenotype

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12 December 2020

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

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12 December 2020

Tibial aplasia--VACTERL association, a new syndrome?

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12 December 2020

The genetics of Fanconi's anaemia

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12 December 2020

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12 December 2020

VATER--tibia aplasia association: report on two patients

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12 December 2020

High-resolution mapping of a 130-kb core region of the MYCN amplicon in neuroblastomas

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12 December 2020

Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition

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12 December 2020

A case of VATER association associated with 9qh+

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12 December 2020

The VATER association. Analysis of 46 patients

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12 December 2020

Loss of N-myc function results in embryonic lethality and failure of the epithelial component of the embryo to develop

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12 December 2020

Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency

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12 December 2020

VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance

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12 December 2020

Defects of embryonic organogenesis resulting from targeted disruption of the N-myc gene in the mouse

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12 December 2020

Mosaic r(13) in an infant with aprosencephaly

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12 December 2020

Hereditary multiple atresias of the gastrointestinal tract: report of a case and review of the literature

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12 December 2020

Visceral anomalies in prenatally adriamycin-exposed rat fetuses: a model for the VATER association

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12 December 2020