Literature DB >> 9354785

Mutation in GLI3 in postaxial polydactyly type A.

U Radhakrishna, A Wild, K H Grzeschik, S E Antonarakis.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9354785     DOI： 10.1038/ng1197-269

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  37 in total

Review 1.  The sonic hedgehog-patched-gli pathway in human development and disease.

Authors:  E H Villavicencio; D O Walterhouse; P M Iannaccone
Journal:  Am J Hum Genet       Date:  2000-09-21       Impact factor: 11.025

Review 2.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

Review 3.  Current perspectives on the genetic causes of neural tube defects.

Authors:  Patrizia De Marco; Elisa Merello; Samantha Mascelli; Valeria Capra
Journal:  Neurogenetics       Date:  2006-08-29       Impact factor: 2.660

4.  Early recognition of basal cell naevus syndrome.

Authors:  Philippe Debeer; Koon Devriendt
Journal:  Eur J Pediatr       Date:  2004-12-10       Impact factor: 3.183

5.  Cooperative requirement of the Gli proteins in neurogenesis.

Authors:  Vân Nguyen; Ann L Chokas; Barbara Stecca; Ariel Ruiz i Altaba
Journal:  Development       Date:  2005-07       Impact factor: 6.868

6.  Sonic Hedgehog Signaling and VACTERL Association.

Authors:  E S-W Ngan; K-H Kim; C-C Hui
Journal:  Mol Syndromol       Date:  2013-02

7.  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

8.  Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors:  H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

9.  A novel Gli3 enhancer controls the Gli3 spatiotemporal expression pattern through a TALE homeodomain protein binding site.

Authors:  Sarah Coy; Jorge H Caamaño; Jaime Carvajal; Michael L Cleary; Anne-Gaëlle Borycki
Journal:  Mol Cell Biol       Date:  2011-01-24       Impact factor: 4.272

Review 10.  Holoprosencephaly: a paradigm for the complex genetics of brain development.

Authors:  E Roessler; M Muenke
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.