Literature DB >> 2645405

Johanson-Blizzard syndrome.

J A Hurst1, M Baraitser.   

Abstract

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Mesh：

Year:  1989        PMID： 2645405      PMCID： PMC1015535          DOI： 10.1136/jmg.26.1.45

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


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  16 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.  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

Review 3.  The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature.

Authors:  K Zerres; E A Holtgrave
Journal:  Clin Genet       Date:  1986-09       Impact factor: 4.438

4.  Johanson-Blizzard syndrome with normal intelligence.

Authors:  J B Moeschler; M S Lubinsky
Journal:  Am J Med Genet       Date:  1985-09

5.  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

6.  Rare congenital syndrome associated with profound hearing loss.

Authors:  A Sismanis; I A Polisar; M L Ruffy; J C Lambert
Journal:  Arch Otolaryngol       Date:  1979-04

7.  Johanson--Blizzard syndrome.

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

8.  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

9.  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

10.  [Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)].

Authors:  J L Bresson; J Schmitz; J M Saudubray; G Lesec; J A Hummel; J Rey
Journal:  Arch Fr Pediatr       Date:  1980-01
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  11 in total

1.  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

2.  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 3.  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

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.  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

7.  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

8.  Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

Authors:  H L Peters; A Bankier
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

9.  A case of systemic aplasia cutis congenita: a newly recognized syndrome?

Authors:  Tokio Sugiura; Masanori Kouwaki; Shusuke Kiyosawa; Yoshie Sasada; Matsuyoshi Maeda; Kenji Goto; Norihisa Koyama
Journal:  Eur J Pediatr       Date:  2007-05-23       Impact factor: 3.183

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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