Publications by authors named "Sandra Chantot"

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Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Rahma Mani, Sabrina Belkacem, Zohra Soua, Sandra Chantot, Guy Montantin

Hum Mutat· January 2020

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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Sandra Chantot

Am J Hum Genet· July 2019

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Sandra Chantot

Nat Commun· February 2017

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Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Stéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Sandra Chantot

Hum Mutat· August 2013

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Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Marie-Paule Beaujard, Sandra Chantot, Michèle Dubois, Boris Keren, Wassila Carpentier

Eur J Med Genet· November 2009

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