Literature DB >> 10051003

Townes-Brocks syndrome.

C M Powell1, R C Michaelis.   

Abstract

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.

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Year:  1999        PMID： 10051003      PMCID： PMC1734298     

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


  34 in total

1.  Familial and abnormality.

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

2.  Townes-Brocks and Pendred syndrome in the same patient.

Authors:  S Yano; Y Watanabe; M Yoshino; K Aida; H Kato
Journal:  Am J Med Genet       Date:  1998-05-26

3.  A new polydactyly/imperforate-anus/vertebral-anomalies syndrome?

Authors:  B Say; P S Gerald
Journal:  Lancet       Date:  1968-09-21       Impact factor: 79.321

4.  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

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 occurrence of hemifacial microsomia with radial limb defects.

Authors:  J Moeschler; S K Clarren
Journal:  Am J Med Genet       Date:  1982-08

8.  Spectrum of anomalies in Fanconi anaemia.

Authors:  A Glanz; F C Fraser
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

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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  24 in total

Review 1.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

Review 2.  Hearing loss and renal syndromes.

Authors:  Paul J Phelan; Michelle N Rheault
Journal:  Pediatr Nephrol       Date:  2017-11-12       Impact factor: 3.714

3.  Neurobehavioral outcomes of infants exposed to MDMA (Ecstasy) and other recreational drugs during pregnancy.

Authors:  Lynn T Singer; Derek G Moore; Sarah Fulton; Julia Goodwin; John J D Turner; Meeyoung O Min; Andrew C Parrott
Journal:  Neurotoxicol Teratol       Date:  2012-03-03       Impact factor: 3.763

Review 4.  Clinical geneticists' views of VACTERL/VATER association.

Authors:  Benjamin D Solomon; Kelly A Bear; Virginia Kimonis; Annelies de Klein; Daryl A Scott; Charles Shaw-Smith; Dick Tibboel; Heiko Reutter; Philip F Giampietro
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

5.  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

6.  Sall1, sall2, and sall4 are required for neural tube closure in mice.

Authors:  Johann Böhm; Anja Buck; Wiktor Borozdin; Ashraf U Mannan; Uta Matysiak-Scholze; Ibrahim Adham; Walter Schulz-Schaeffer; Thomas Floss; Wolfgang Wurst; Jürgen Kohlhase; Francisco Barrionuevo
Journal:  Am J Pathol       Date:  2008-09-25       Impact factor: 4.307

7.  One-year outcomes of prenatal exposure to MDMA and other recreational drugs.

Authors:  Lynn T Singer; Derek G Moore; Meeyoung O Min; Julia Goodwin; John J D Turner; Sarah Fulton; Andrew C Parrott
Journal:  Pediatrics       Date:  2012-08-20       Impact factor: 7.124

8.  A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells.

Authors:  Jianchang Yang; Chong Gao; Li Chai; Yupo Ma
Journal:  PLoS One       Date:  2010-05-21       Impact factor: 3.240

Review 9.  Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

Authors:  Yaqin Tu; Ping Yang; Jia Yang; Yuchen Xu; Fei Xiong; Qilin Yu; Weikuan Gu; Dinel Pond; Nancy Mendelsohn; Guus A M A Lachmeijer; Shu Zhang; Cong-Yi Wang
Journal:  Int J Clin Exp Pathol       Date:  2014-04-15

10.  Developmental outcomes of 3,4-methylenedioxymethamphetamine (ecstasy)-exposed infants in the UK.

Authors:  Lynn T Singer; Derek G Moore; Meeyoung O Min; Julia Goodwin; John J D Turner; Sarah Fulton; Andrew C Parrott
Journal:  Hum Psychopharmacol       Date:  2015-07       Impact factor: 1.672
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