Literature DB >> 23652379

Clinical utility gene card for: Johanson-Blizzard syndrome.

Maja Sukalo1, Julia Mayerle2, Martin Zenker1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23652379      PMCID： PMC3865401          DOI： 10.1038/ejhg.2013.65

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  10 in total

1.  Johanson-Blizzard syndrome.

Authors:  Nabeel Almashraki; Mukarram Zainuddin Abdulnabee; Maja Sukalo; Abdullah Alrajoudi; Iman Sharafadeen; Martin Zenker
Journal:  World J Gastroenterol       Date:  2011-10-07       Impact factor: 5.742

2.  Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

Authors:  Katharina Schoner; Barbara Fritz; Georg Huelskamp; Frank Louwen; Martin Zenker; Roland Moll; Helga Rehder
Journal:  Pediatr Dev Pathol       Date:  2011-06-28

3.  Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.

Authors:  Gholam Hossein Fallahi; Mozhgan Sabbaghian; Manijeh Khalili; Nima Parvaneh; Martin Zenker; Nima Rezaei
Journal:  Eur J Pediatr       Date:  2010-06-17       Impact factor: 3.183

4.  Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Authors:  Martin Zenker; Julia Mayerle; Markus M Lerch; Andreas Tagariello; Klaus Zerres; Peter R Durie; Matthias Beier; Georg Hülskamp; Celina Guzman; Helga Rehder; Frits A Beemer; Ben Hamel; Philippe Vanlieferinghen; Ruth Gershoni-Baruch; Marta W Vieira; Miroslav Dumic; Ron Auslender; Vera L Gil-da-Silva-Lopes; Simone Steinlicht; Manfred Rauh; Stavit A Shalev; Christian Thiel; Arif B Ekici; Andreas Winterpacht; Yong Tae Kwon; Alexander Varshavsky; André Reis
Journal:  Nat Genet       Date:  2005-11-20       Impact factor: 38.330

5.  Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

Authors:  Naim Alkhouri; Barbara Kaplan; Marsha Kay; Amy Shealy; Carol Crowe; Susanne Bauhuber; Martin Zenker
Journal:  World J Gastroenterol       Date:  2008-11-28       Impact factor: 5.742

6.  A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.

Authors:  K Nagashima; H Yagi; T Kuroume
Journal:  Clin Genet       Date:  1993-02       Impact factor: 4.438

7.  Anorectal anomalies associated with or as part of other anomalies.

Authors:  Alfred Cuschieri
Journal:  Am J Med Genet       Date:  2002-06-15

8.  Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Authors:  Mohammed S Al-Dosari; Saleh Al-Muhsen; Ayman Al-Jazaeri; Julia Mayerle; Martin Zenker; Fowzan S Alkuraya
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

9.  Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Authors:  Mariet Elting; Ariana Kariminejad; Marie-Louise de Sonnaville; Jaap Ottenkamp; Susanne Bauhuber; Bita Bozorgmehr; Martin Zenker; Jan M Cobben
Journal:  Am J Med Genet A       Date:  2008-12-01       Impact factor: 2.802

10.  Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

Authors:  Cheol-Sang Hwang; Maja Sukalo; Olga Batygin; Marie-Claude Addor; Han Brunner; Antonio Perez Aytes; Julia Mayerle; Hyun Kyu Song; Alexander Varshavsky; Martin Zenker
Journal:  PLoS One       Date:  2011-09-13       Impact factor: 3.240
  10 in total
  1 in total

1.  Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.

Authors:  Ankur Singh; Neha Chaudhary; Dhulika Dhingra; Maja Sukalo; Martin Zenker; Seema Kapoor
Journal:  Indian J Gastroenterol       Date:  2013-09-20
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.