Publications by authors named "Patrick Munier"

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Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Jean-Luc Alessandri, Tristan Celse, Marta Spodenkiewicz, Anais Calaya, Coralie Dumont, Patrick Munier

Eur J Med Genet· June 2024

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How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.
Alain Sarasin, Patrick Munier, François Cartault

Genet Mol Biol· December 2019

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Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
François Cartault, Patrick Munier, Marie-Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray

Eur J Hum Genet· January 2015

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Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.
Kaye N Ballantyne, Arwin Ralf, Rachid Aboukhalid, Niaz M Achakzai, Maria J Anjos, Patrick Munier

Hum Mutat· August 2014

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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.
François Cartault, Patrick Munier, Edgar Benko, Isabelle Desguerre, Sylvain Hanein

Proc Natl Acad Sci U S A· March 2012

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A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
François Cartault, Caroline Nava, Anne-Claire Malbrunot, Patrick Munier, Jean-Christophe Hebert

DNA Repair (Amst)· June 2011

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