Claustres M - Search Results

1

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Renaud M, Guissart C, Mallaret M, Ferdinandusse S, Cheillan D, Drouot N, Muller J, Claustres M, Tranchant C, Anheim M, Koenig M. Renaud M, et al. Among authors: claustres m. J Neurol. 2016 Aug;263(8):1552-8. doi: 10.1007/s00415-016-8167-3. Epub 2016 May 26. J Neurol. 2016. PMID: 27230853

2

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: claustres m. Ann Neurol. 2001 Aug;50(2):250-3. Ann Neurol. 2001. PMID: 11506409

3

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: claustres m. Neurogenetics. 2002 Mar;4(1):23-7. doi: 10.1007/s10048-001-0127-z. Neurogenetics. 2002. PMID: 12030328

4

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: claustres m. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603

5

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M. Guissart C, et al. Among authors: claustres m. Hum Mol Genet. 2015 Jan 15;24(2):463-70. doi: 10.1093/hmg/ddu461. Epub 2014 Sep 8. Hum Mol Genet. 2015. PMID: 25205112

6

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Guissart C, Debant V, Desgeorges M, Bareil C, Raynal C, Toga C, Pritchard V, Koenig M, Claustres M, Vincent MC. Guissart C, et al. Among authors: claustres m. Clin Chem Lab Med. 2015 Feb;53(2):205-15. doi: 10.1515/cclm-2014-0501. Clin Chem Lab Med. 2015. PMID: 25274949

7

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Liquori A, Vaché C, Baux D, Blanchet C, Hamel C, Malcolm S, Koenig M, Claustres M, Roux AF. Liquori A, et al. Among authors: claustres m. Hum Mutat. 2016 Feb;37(2):184-93. doi: 10.1002/humu.22926. Epub 2015 Nov 23. Hum Mutat. 2016. PMID: 26629787

8

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M. Guissart C, et al. Among authors: claustres m. Eur J Hum Genet. 2016 Aug;24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669662 Free PMC article.

9

Assessment of the latest NGS enrichment capture methods in clinical context.

García-García G, Baux D, Faugère V, Moclyn M, Koenig M, Claustres M, Roux AF. García-García G, et al. Among authors: claustres m. Sci Rep. 2016 Feb 11;6:20948. doi: 10.1038/srep20948. Sci Rep. 2016. PMID: 26864517 Free PMC article.

10

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

Bergougnoux A, Boureau-Wirth A, Rouzier C, Altieri JP, Verneau F, Larrieu L, Koenig M, Claustres M, Raynal C. Bergougnoux A, et al. Among authors: claustres m. J Cyst Fibros. 2016 May;15(3):309-12. doi: 10.1016/j.jcf.2016.04.003. Epub 2016 Apr 23. J Cyst Fibros. 2016. PMID: 27117206 Free article.

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