Literature DB >> 9690002

Meier-Gorlin syndrome: the adult phenotype.

J P Fryns.   

Abstract

Mesh:

Year:  1998        PMID: 9690002     DOI: 10.1097/00019605-199807000-00016

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  3 in total

1.  Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Authors:  Duane L Guernsey; Makoto Matsuoka; Haiyan Jiang; Susan Evans; Christine Macgillivray; Mathew Nightingale; Scott Perry; Meghan Ferguson; Marissa LeBlanc; Jean Paquette; Lysanne Patry; Andrea L Rideout; Aidan Thomas; Andrew Orr; Chris R McMaster; Jacques L Michaud; Cheri Deal; Sylvie Langlois; Duane W Superneau; Sandhya Parkash; Mark Ludman; David L Skidmore; Mark E Samuels
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

2.  Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

Authors:  Sonja A de Munnik; Louise S Bicknell; Salim Aftimos; Jumana Y Al-Aama; Yolande van Bever; Michael B Bober; Jill Clayton-Smith; Alaa Y Edrees; Murray Feingold; Alan Fryer; Johanna M van Hagen; Raoul C Hennekam; Maaike C E Jansweijer; Diana Johnson; Sarina G Kant; John M Opitz; A Radha Ramadevi; Willie Reardon; Alison Ross; Pierre Sarda; Constance T R M Schrander-Stumpel; Jeroen Schoots; I Karen Temple; Paulien A Terhal; Annick Toutain; Carol A Wise; Michael Wright; David L Skidmore; Mark E Samuels; Lies H Hoefsloot; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

Review 3.  Meier-Gorlin syndrome.

Authors:  Sonja A de Munnik; Elisabeth H Hoefsloot; Jolt Roukema; Jeroen Schoots; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123

  3 in total

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