Literature DB >> 5171616

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

A Johanson, R Blizzard.   

Abstract

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Year:  1971        PMID： 5171616     DOI： 10.1016/s0022-3476(71)80194-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  30 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

Review 2.  Johanson-Blizzard syndrome.

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

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

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

4.  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

5.  Congenital hypothyroidism, spiky hair, and cleft palate.

Authors:  J S Bamforth; I A Hughes; J H Lazarus; C M Weaver; P S Harper
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

6.  Johanson-Blizzard syndrome: A challenge in nasal reconstruction.

Authors:  Norma Timoney; Michael J Weinberg; David A Ross; Hugh G Thomson
Journal:  Can J Plast Surg       Date:  2004

Review 7.  Physiological functions and clinical implications of the N-end rule pathway.

Authors:  Yujiao Liu; Chao Liu; Wen Dong; Wei Li
Journal:  Front Med       Date:  2016-09-07       Impact factor: 4.592

8.  Hypovitaminosis E induced neuropathy in exocrine pancreatic failure.

Authors:  G Davidai; T Zakaria; R Goldstein; A Gilai; S Freier
Journal:  Arch Dis Child       Date:  1986-09       Impact factor: 3.791

9.  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

10.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
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