Literature DB >> 2395165

The Townes-Brocks syndrome.

M O'Callaghan1, I D Young.   

Abstract

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Mesh：

Year:  1990        PMID： 2395165      PMCID： PMC1017185          DOI： 10.1136/jmg.27.7.457

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


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  14 in total

Review 1.  Townes-Brocks syndrome. Report of a case and review of the literature.

Authors:  F G Ferraz; L Nunes; M E Ferraz; J P Sousa; M Santos; C Carvalho; P Maroteaux
Journal:  Ann Genet       Date:  1989

2.  Familial and abnormality.

Authors:  I S Reid; G Turner
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406

3.  The Holt-Oram syndrome with previously undescribed associated anomalies.

Authors:  W Silver; M Steier; O Schwartz; M B Zeichner
Journal:  Am J Dis Child       Date:  1972-12

4.  Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.

Authors:  P L Townes; E R Brocks
Journal:  J Pediatr       Date:  1972-08       Impact factor: 4.406

5.  Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.

Authors:  I R Walpole; A Hockey
Journal:  J Pediatr       Date:  1982-02       Impact factor: 4.406

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

Authors:  D M Kurnit; M W Steele; L Pinsky; A Dibbins
Journal:  J Pediatr       Date:  1978-08       Impact factor: 4.406

7.  Familial imperforate anus.

Authors:  Y Naveh; A Friedman
Journal:  Am J Dis Child       Date:  1976-04

Review 8.  The syndromology of anorectal malformation (atresia, stenosis, ectopia).

Authors:  L Pinsky
Journal:  Am J Med Genet       Date:  1978

9.  Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.

Authors:  J H Hersh; M Jaworski; R E Solinger; B Weisskopf; J Donat
Journal:  Clin Pediatr (Phila)       Date:  1986-02       Impact factor: 1.168

10.  Phenotypic variability in Townes-Brocks syndrome.

Authors:  J Monteiro de Pina-Neto
Journal:  Am J Med Genet       Date:  1984-05
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  6 in total

Review 1.  Townes-Brocks syndrome.

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

2.  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

3.  Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Authors:  E Ullah; D Wu; L Madireddy; R Lao; P Ling-Fung Tang; E Wan; T Bardakjian; S Kopinsky; P-Y Kwok; A Schneider; S Baranzini; M Ansar; A Slavotinek
Journal:  Ophthalmic Genet       Date:  2016-09-23       Impact factor: 1.803

4.  An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

Authors:  A J Green; R N Sandford; B C Davison
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

5.  Hypothesis: a new role for the Renin-Angiotensin system in ureteric bud branching.

Authors:  Ihor V Yosypiv
Journal:  Organogenesis       Date:  2004-07       Impact factor: 2.500

6.  Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

Authors:  Paulo Breno Noronha Liberalesso; Mara L Cordeiro; Simone Carreiro Vieira Karuta; Karyn Regina Jordão Koladicz; Anderson Nitsche; Bianca Simone Zeigelboim; Salmo Raskin; Michael Rauchman
Journal:  BMC Med Genet       Date:  2017-11-06       Impact factor: 2.103
  6 in total

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