Dr CHARLET BERGUERAND Nicolas

Fiche personne


coordonnées

IGBMC
1 rue Laurent Fries
BP 10142
67404 ILLKIRCH

03 88 65 33 09

nicolas.charlet-berguerand@igbmc.fr

Territoire

Alsace

Statut

Chercheur

Publications


A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.

Okutman O, Boivin M, Muller J, Charlet-Berguerand N, Viville S

Hum Reprod. 2022 12 16;:

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases.

Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, Riet F, Dijkstra AA, McFadden K, Clayton WA, Hong D, Miyahara H, Iwasaki Y, Sone J, Wang Z, Charlet-Berguerand N

Neuron. 2021 Apr 13;:

Homozygous Splice Site Mutation in Causes Familial Oocyte Maturation Defect.

Okutman Ö, Demirel C, Tülek F, Pfister V, Büyük U, Muller J, Charlet-Berguerand N, Viville S

Genes (Basel). 2020 Apr 1;11(4):

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