Literature DB >> 671168

Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.

D M Kurnit, M W Steele, L Pinsky, A Dibbins.   

Abstract

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Year:  1978        PMID： 671168     DOI： 10.1016/s0022-3476(78)80518-6

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


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  13 in total

1.  Townes-Brocks syndrome.

Authors:  R König; U Schick; S Fuchs
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

Review 2.  Townes-Brocks syndrome.

Authors:  C M Powell; R C Michaelis
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

3.  The Townes-Brocks syndrome.

Authors:  M O'Callaghan; I D Young
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

4.  Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Authors:  J Kohlhase; P E Taschner; P Burfeind; B Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; B Mitulla; J Seidel; S J Kirkpatrick; R M Pauli; D S Wargowski; K Devriendt; W Proesmans; O Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; A A Schinzel; W Reardon; E Seemanova; W Engel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 5.  Anorectal malformation: the etiological factors.

Authors:  Chen Wang; Long Li; Wei Cheng
Journal:  Pediatr Surg Int       Date:  2015-04-22       Impact factor: 1.827

6.  TOWNES-BROCKS SYNDROME: REPORT OF THREE ADDITIONAL PATIENTS WITH PREVIOUSLY UNDESCRIBED RENAL AND CARDIAC ABNORMALITIES.

Authors:  Amin Y Barakat; Merlin G Butler; James E Salter; Agnes Fogo
Journal:  Dysmorphol Clin Genet       Date:  1988

7.  An aetiological study of the VACTERL-association.

Authors:  A Czeizel; I Ludányi
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

Review 8.  Triphalangeal thumb.

Authors:  Q Qazi; E G Kassner
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

9.  A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.

Authors:  Won Ik Choi; Ji Hye Kim; Han Wook Yoo; Sung Hee Oh
Journal:  Korean J Pediatr       Date:  2010-12-31

10.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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