Literature DB >> 4050852

Johanson-Blizzard syndrome with normal intelligence.

J B Moeschler, M S Lubinsky.   

Abstract

We report a brother and sister with apparent Johanson-Blizzard syndrome and normal intelligence. There is a wide range of intellectual abilities of persons with Johanson-Blizzard syndrome. No phenotypic predictors of ultimate intellectual function were found in the literature.

Entities:  

Mesh：

Year:  1985        PMID： 4050852     DOI： 10.1002/ajmg.1320220107

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


  8 in total

Review 1.  Johanson-Blizzard syndrome.

Authors:  J A Hurst; M Baraitser
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

2.  The temporal bone in the Johanson-Blizzard syndrome. A CT study.

Authors:  J Braun; A Lerner; R Gershoni-Baruch
Journal:  Pediatr Radiol       Date:  1991

3.  Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood.

Authors:  D R Trellis; R E Clouse
Journal:  Dig Dis Sci       Date:  1991-03       Impact factor: 3.199

4.  Johanson--blizzard syndrome.

Authors:  M L Kulkarni; S K Shetty; K S Kallambella; P M Kulkarni
Journal:  Indian J Pediatr       Date:  2004-12       Impact factor: 1.967

Review 5.  Eponym: Johanson-Blizzard syndrome.

Authors:  Nima Rezaei; Mozhgan Sabbaghian; Zhifeng Liu; Martin Zenker
Journal:  Eur J Pediatr       Date:  2010-06-17       Impact factor: 3.183

6.  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

7.  Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

Authors:  Curtis K Deutsch; Tania Hreczko; Lewis B Holmes
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2013-03-06

8.  Johanson-Blizzard syndrome.

Authors:  Sérgio Ramos; Henrique F Ramos; Rosangela F Ramos; Carlos A M Peixoto; Bernardo F Ramos
Journal:  Braz J Otorhinolaryngol       Date:  2010 Nov-Dec
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.