Literature DB >> 7120319

The Johanson-Blizzard syndrome.

M Baraitser, S V Hodgson.   

Abstract

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Mesh：

Year:  1982        PMID： 7120319      PMCID： PMC1048899          DOI： 10.1136/jmg.19.4.302

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Exocrine pancreatic insufficiency with congenital anomalies.

Authors:  A Schussheim; S J Choi; M Silverberg
Journal:  J Pediatr       Date:  1976-11       Impact factor: 4.406

2.  Proteolytic and lipolytic deficiency of the exocrine pancreas.

Authors:  P L Townes
Journal:  J Pediatr       Date:  1969-08       Impact factor: 4.406

3.  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

4.  Johanson-Blizzard syndrome in a large inbred kindred with three involved members.

Authors:  M K Mardini; M Ghandour; N A Sakati; W L Nyhan
Journal:  Clin Genet       Date:  1978-11       Impact factor: 4.438

5.  Johanson--Blizzard syndrome.

Authors:  D W Day; J N Israel
Journal:  Birth Defects Orig Artic Ser       Date:  1978

6.  Trypsinogen deficiency disease.

Authors:  M D Morris; D A Fisher
Journal:  Am J Dis Child       Date:  1967-08

7.  Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital anomalies.

Authors:  P L Townes; M R White
Journal:  Am J Dis Child       Date:  1981-03
  7 in total
  5 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

Review 4.  Imaging findings of lipomatosis: a comprehensive review.

Authors:  Seray Akcalar; Baris Turkbey; Tuncay Hazirolan; Musturay Karcaaltincaba; Iclal Ocak; Ustun Aydingoz; Erhan Akpinar
Journal:  Jpn J Radiol       Date:  2012-10-10       Impact factor: 2.374

5.  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
  5 in total

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