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Literature DB >> 20369369

Evidence for inheritance in patients with VACTERL association.

Benjamin D Solomon¹, Daniel E Pineda-Alvarez, Manu S Raam, Derek A T Cummings.

Abstract

VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.

Entities: Disease Species

Mesh：

Year: 2010 PMID： 20369369 PMCID： PMC2871973 DOI： 10.1007/s00439-010-0814-7

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

6 in total

1. Population-based Birth Defects Surveillance data from selected states, 2001-2005.

Authors:
Journal: Birth Defects Res A Clin Mol Teratol Date: 2008-12

2. An aetiological study of the VACTERL-association.

Authors: A Czeizel; I Ludányi
Journal: Eur J Pediatr Date: 1985-11 Impact factor: 3.183

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

Authors: A K Brown; A W Roddam; L Spitz; S J Ward
Journal: Am J Med Genet Date: 1999-07-02

Review 4. VATER non-random association of congenital malformations: study based on data from four malformation registers.

Authors: K Källén; P Mastroiacovo; E E Castilla; E Robert; B Källén
Journal: Am J Med Genet Date: 2001-06-01

5. VACTERL association, epidemiologic definition and delineation.

Authors: M Rittler; J E Paz; E E Castilla
Journal: Am J Med Genet Date: 1996-06-28

6. The VATER association. Analysis of 46 patients.

Authors: D D Weaver; C L Mapstone; P L Yu
Journal: Am J Dis Child Date: 1986-03

6 in total

28 in total

Review 1. Familial occurrence of the VATER/VACTERL association.

Authors: Alina Hilger; Charlotte Schramm; Markus Draaken; Sadaf S Mughal; Gabriel Dworschak; Enrika Bartels; Per Hoffmann; Markus M Nöthen; Heiko Reutter; Michael Ludwig
Journal: Pediatr Surg Int Date: 2012-03-16 Impact factor: 1.827

Review 2. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

Authors: Heiko Reutter; Alina C Hilger; Friedhelm Hildebrandt; Michael Ludwig
Journal: Pediatr Nephrol Date: 2016-02-08 Impact factor: 3.714

3. Inheritance of the VATER/VACTERL association.

Authors: Enrika Bartels; Ekkehart Jenetzky; Benjamin D Solomon; Michael Ludwig; Eberhard Schmiedeke; Sabine Grasshoff-Derr; Dominik Schmidt; Stefanie Märzheuser; Stuart Hosie; Sandra Weih; Stefan Holland-Cunz; Markus Palta; Johannes Leonhardt; Mattias Schäfer; Christina Kujath; Anke Rissmann; Markus M Nöthen; Heiko Reutter; Nadine Zwink
Journal: Pediatr Surg Int Date: 2012-05-12 Impact factor: 1.827

Evidence for inheritance in patients with VACTERL association.

1. Population-based Birth Defects Surveillance data from selected states, 2001-2005.

2. An aetiological study of the VACTERL-association.

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

Review 4. VATER non-random association of congenital malformations: study based on data from four malformation registers.

5. VACTERL association, epidemiologic definition and delineation.

6. The VATER association. Analysis of 46 patients.

Review 1. Familial occurrence of the VATER/VACTERL association.

Review 2. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

3. Inheritance of the VATER/VACTERL association.

4. VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.

5. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.

6. Considering the Embryopathogenesis of VACTERL Association.

7. Sonic Hedgehog Signaling and VACTERL Association.

Review 8. Anorectal malformation: the etiological factors.

9. VATER/VACTERL Association: Evidence for the Role of Genetic Factors.

10. Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association.