Literature DB >> 1605254

Recurrence of extrahepatic biliary atresia in two half sibs.

T S Gunasekaran1, E G Hassall, U P Steinbrecher, S L Yong.   

Abstract

Extrahepatic biliary atresia (EHBA) usually is a sporadic disorder. Familial cases, including occurrence in sibs and twins, have been reported. We report the first recurrence of EHBA in two half sibs born to a common father and unrelated mothers and suggest the possibility of gonadal mosaicism for a new dominant mutation.

Entities:  

Mesh:

Year:  1992        PMID: 1605254     DOI: 10.1002/ajmg.1320430317

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


  8 in total

1.  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

2.  Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia.

Authors:  Omar Rabab'h; Dunia Aburizeg; Eyad Altamimi; Lynn Akasheh; Zain Dardas; Luma Srour; Heyam Awad; Bilal Azab
Journal:  J Appl Genet       Date:  2022-10-07       Impact factor: 2.653

Review 3.  Biliary atresia: recent progress.

Authors:  Mikelle D Bassett; Karen F Murray
Journal:  J Clin Gastroenterol       Date:  2008-07       Impact factor: 3.062

Review 4.  Biliary atresia.

Authors:  Christophe Chardot
Journal:  Orphanet J Rare Dis       Date:  2006-07-26       Impact factor: 4.123

5.  Novel findings from family-based exome sequencing for children with biliary atresia.

Authors:  Kien Trung Tran; Vinh Sy Le; Lan Thi Mai Dao; Huyen Khanh Nguyen; Anh Kieu Mai; Ha Thi Nguyen; Minh Duy Ngo; Quynh Anh Tran; Liem Thanh Nguyen
Journal:  Sci Rep       Date:  2021-11-08       Impact factor: 4.379

6.  Biliary atresia.

Authors:  C K Sinha; Mark Davenport
Journal:  J Indian Assoc Pediatr Surg       Date:  2008-04

7.  A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

Authors:  Ying Chen; Melissa A Gilbert; Christopher M Grochowski; Deborah McEldrew; Jessica Llewellyn; Orith Waisbourd-Zinman; Hakon Hakonarson; Joan E Bailey-Wilson; Pierre Russo; Rebecca G Wells; Kathleen M Loomes; Nancy B Spinner; Marcella Devoto
Journal:  PLoS Genet       Date:  2018-08-13       Impact factor: 5.917

8.  Exome Sequencing in Individuals with Isolated Biliary Atresia.

Authors:  Ramakrishnan Rajagopalan; Ellen A Tsai; Christopher M Grochowski; Susan M Kelly; Kathleen M Loomes; Nancy B Spinner; Marcella Devoto
Journal:  Sci Rep       Date:  2020-02-17       Impact factor: 4.379

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.