Claustres M - Search Results

1

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. Guissart C, et al. Among authors: claustres m. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656859 Free PMC article.

2

Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

Aguilar-Martinez P, Romey MC, Schved JF, Gris JC, Demaille J, Claustres M. Aguilar-Martinez P, et al. Among authors: claustres m. Hum Genet. 1994 Sep;94(3):287-90. doi: 10.1007/BF00208285. Hum Genet. 1994. PMID: 8076946

3

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.

Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M. Romey MC, et al. Among authors: claustres m. Hum Genet. 1996 Sep;98(3):328-32. doi: 10.1007/s004390050217. Hum Genet. 1996. PMID: 8707304

4

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M. Tuffery S, et al. Among authors: claustres m. Hum Genet. 1998 Mar;102(3):334-42. doi: 10.1007/s004390050702. Hum Genet. 1998. PMID: 9544849

5

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC, Guittard C, Chazalette JP, Frossard P, Dawson KP, Patton MA, Casals T, Bazarbachi T, Girodon E, Rault G, Bozon D, Seguret F, Demaille J, Claustres M. Romey MC, et al. Among authors: claustres m. Hum Genet. 1999 Jul-Aug;105(1-2):145-50. doi: 10.1007/s004399900066. Hum Genet. 1999. PMID: 10480369

6

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Eur J Hum Genet. 2005 Dec;13(12):1254-60. doi: 10.1038/sj.ejhg.5201478. Eur J Hum Genet. 2005. PMID: 16077730

7

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: claustres m. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.

8

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.

Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Khau Van Kien P. Plancke A, et al. Among authors: claustres m. Eur J Hum Genet. 2009 Nov;17(11):1411-6. doi: 10.1038/ejhg.2009.76. Epub 2009 May 20. Eur J Hum Genet. 2009. PMID: 19455184 Free PMC article.

9

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

Vaché C, Besnard T, Blanchet C, Baux D, Larrieu L, Faugère V, Mondain M, Hamel C, Malcolm S, Claustres M, Roux AF. Vaché C, et al. Among authors: claustres m. Hum Mutat. 2010 Jun;31(6):734-41. doi: 10.1002/humu.21255. Hum Mutat. 2010. PMID: 20513143

10

Audiological findings in 100 USH2 patients.

Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF. Abadie C, et al. Among authors: claustres m. Clin Genet. 2012 Nov;82(5):433-8. doi: 10.1111/j.1399-0004.2011.01772.x. Epub 2011 Sep 30. Clin Genet. 2012. PMID: 21895633

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