Literature DB >> 9677074

Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.

G Annerén, S Meurling, H Lilja, J Wallander, U von Döbeln.   

Abstract

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Year:  1998        PMID: 9677074     DOI: 10.1002/(sici)1096-8628(19980707)78:3<306::aid-ajmg22>3.0.co;2-i

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  7 in total

1.  Fetal liver iron overload: the role of MR imaging.

Authors:  Marie Cassart; Freddy Efraim Avni; Laurent Guibaud; Marc Molho; Nicky D'Haene; Alain Paupe
Journal:  Eur Radiol       Date:  2010-09-04       Impact factor: 5.315

2.  Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Authors:  Melissa Leyva-Vega; Jennifer Gerfen; Brian D Thiel; Dorota Jurkiewicz; Elizabeth B Rand; Joanna Pawlowska; Diana Kaminska; Pierre Russo; Xiaowu Gai; Ian D Krantz; Binita M Kamath; Hakon Hakonarson; Barbara A Haber; Nancy B Spinner
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

Review 3.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

4.  Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Authors:  J Mitchell; Z Punthakee; B Lo; C Bernard; K Chong; C Newman; L Cartier; V Desilets; E Cutz; I L Hansen; P Riley; C Polychronakos
Journal:  Diabetologia       Date:  2004-12-08       Impact factor: 10.122

5.  Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature.

Authors:  Ranjit I Kylat
Journal:  J Pediatr Genet       Date:  2017-01-02

6.  Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.

Authors:  L Cruz; R E Schnur; E M Post; H Bodagala; R Ahmed; C Smith; L B Lulis; G E Stahl; A Kushnir
Journal:  J Perinatol       Date:  2014-12       Impact factor: 2.521

7.  A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

Authors:  Nusrat Khan; Waleed Dandan; Noura Al Hassani; Suha Hadi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-01-18
  7 in total

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