Literature DB >> 32843414

Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy.

Adil Ahmed Khan1, Chaithanya Reddy1, Arushi Gahlot Saini2, Sameer Vyas3.   

Abstract

Entities:  

Keywords:  genetics; neuroimaging

Mesh：

Year:  2020        PMID： 32843414      PMCID： PMC7449299          DOI： 10.1136/bcr-2020-235468

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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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.  Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Authors:  Louise S Bicknell; Ernie M H F Bongers; Andrea Leitch; Stephen Brown; Jeroen Schoots; Margaret E Harley; Salim Aftimos; Jumana Y Al-Aama; Michael Bober; Paul A J Brown; Hans van Bokhoven; John Dean; Alaa Y Edrees; Murray Feingold; Alan Fryer; Lies H Hoefsloot; Nikolaus Kau; Nine V A M Knoers; James Mackenzie; John M Opitz; Pierre Sarda; Alison Ross; I Karen Temple; Annick Toutain; Carol A Wise; Michael Wright; Andrew P Jackson
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

3.  Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.

Authors:  Karen M Knapp; Rosie Sullivan; Jennie Murray; Gregory Gimenez; Pamela Arn; Precilla D'Souza; Alper Gezdirici; William G Wilson; Andrew P Jackson; Carlos Ferreira; Louise S Bicknell
Journal:  J Med Genet       Date:  2019-11-29       Impact factor: 6.318
  3 in total
  1 in total

1.  Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Authors:  Maria S Nazarenko; Iuliia V Viakhireva; Mikhail Y Skoblov; Elena V Soloveva; Aleksei A Sleptcov; Ludmila P Nazarenko
Journal:  Int J Mol Sci       Date:  2022-08-17       Impact factor: 6.208
  1 in total

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