Literature DB >> 8669452

Townes-Brocks syndrome associated with mental retardation.

S Ishikiriyama, F Kudoh, N Shimojo, J Iwai, T Inoue.   

Abstract

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Year:  1996        PMID： 8669452     DOI： 10.1002/ajmg.1320610203

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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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.  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

4.  Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality.

Authors:  M Parrish; T Ott; C Lance-Jones; G Schuetz; A Schwaeger-Nickolenko; A P Monaghan
Journal:  Mol Cell Biol       Date:  2004-08       Impact factor: 4.272

5.  Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes.

Authors:  María José Ferreiro; Naiara Rodríguez-Ezpeleta; Coralia Pérez; Michael Hackenberg; Ana María Aransay; Rosa Barrio; Rafael Cantera
Journal:  BMC Genomics       Date:  2012-09-15       Impact factor: 3.969

6.  Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome.

Authors:  Susan J Harrison; Ryuichi Nishinakamura; Kevin R Jones; A Paula Monaghan
Journal:  Dis Model Mech       Date:  2011-12-22       Impact factor: 5.758
  6 in total

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