Literature DB >> 15046066

Gene symbol: GLI3. Disease: Pallister-Hall syndrome.

M Kalff-Suske1, Z Paparidis, D Bornholdt, T Cole, M Kalff-Suske1, K-H Grzeschik.   

Abstract

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Year:  2004        PMID： 15046066

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  2 in total

1.  Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:  Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2005-02-28       Impact factor: 11.025

2.  Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Authors:  Martijn Baas; Elise Bette Burger; Ans Mw van den Ouweland; Steven Er Hovius; Annelies de Klein; Christianne A van Nieuwenhoven; Robert Jan H Galjaard
Journal:  J Med Genet       Date:  2020-06-26       Impact factor: 6.318
  2 in total

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