Literature DB >> 24052374

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

Ankur Singh1, Neha Chaudhary, Dhulika Dhingra, Maja Sukalo, Martin Zenker, Seema Kapoor.   

Abstract

Johanson-Blizzard syndrome (JBS); (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (hepatitis and anemia) in a molecularly confirmed case of JBS.

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Year:  2013        PMID： 24052374     DOI： 10.1007/s12664-013-0391-5

Source DB:  PubMed          Journal:  Indian J Gastroenterol        ISSN： 0254-8860


  12 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.  Clinical utility gene card for: Johanson-Blizzard syndrome.

Authors:  Maja Sukalo; Julia Mayerle; Martin Zenker
Journal:  Eur J Hum Genet       Date:  2013-05-08       Impact factor: 4.246

3.  The Johanson-Blizzard syndrome: a second report of full autopsy findings.

Authors:  J B Moeschler; M J Polak; J J Jenkins; R S Amato
Journal:  Am J Med Genet       Date:  1987-01

4.  A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.

Authors:  A Johanson; R Blizzard
Journal:  J Pediatr       Date:  1971-12       Impact factor: 4.406

5.  Johanson-Blizzard syndrome with Diamond-Blackfan anemia.

Authors:  Muhammad Saeed; Muhammad Nasir Rana; Tahir Masood Ahmad
Journal:  J Coll Physicians Surg Pak       Date:  2010-09       Impact factor: 0.711

6.  The Johanson-Blizzard syndrome: case report and autopsy findings.

Authors:  D L Daentl; J L Frías; E F Gilbert; J M Opitz
Journal:  Am J Med Genet       Date:  1979

7.  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

8.  Johanson-blizzard syndrome.

Authors:  Koumudi Godbole; Sukalo Maja; Hiremath Leena; Zenker Martin
Journal:  Indian Pediatr       Date:  2013-05-08       Impact factor: 1.411

9.  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

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
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