Stef M - Search Results

1

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. Among authors: stef m, m cann e. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.

2

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Coupry I, et al. Among authors: stef m. J Med Genet. 2002 Jun;39(6):415-21. doi: 10.1136/jmg.39.6.415. J Med Genet. 2002. PMID: 12070251 Free PMC article. No abstract available.

3

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B. Rooryck C, et al. Among authors: stef m. Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. doi: 10.1016/j.ejmg.2007.09.003. Epub 2007 Oct 2. Eur J Med Genet. 2008. PMID: 18024240

4

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B. Rooryck C, et al. Among authors: stef m. Eur J Med Genet. 2009 Nov-Dec;52(6):446-9. doi: 10.1016/j.ejmg.2009.08.005. Epub 2009 Sep 3. Eur J Med Genet. 2009. PMID: 19733267

5

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B. Stef M, et al. Eur J Hum Genet. 2007 Aug;15(8):843-7. doi: 10.1038/sj.ejhg.5201847. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473832

6

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.

Stef M, Simon D, Burgelin I, Guisle I, Chevalier C, Delrue MA, Lacombe D, Léger J, Arveiler B. Stef M, et al. Hum Mutat. 2006 Nov;27(11):1143-50. doi: 10.1002/humu.20398. Hum Mutat. 2006. PMID: 16952148

7

Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2.

Dupuy D, Aubert I, Dupérat VG, Petit J, Taine L, Stef M, Bloch B, Arveiler B. Dupuy D, et al. Among authors: stef m. Genomics. 2000 Nov 1;69(3):348-54. doi: 10.1006/geno.2000.6343. Genomics. 2000. PMID: 11056053

8

Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis.

Costaglioli P, Joubès J, Garcia C, Stef M, Arveiler B, Lessire R, Garbay B. Costaglioli P, et al. Among authors: stef m. Biochim Biophys Acta. 2005 Jun 1;1734(3):247-58. doi: 10.1016/j.bbalip.2005.04.002. Biochim Biophys Acta. 2005. PMID: 15914083

9

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M. Sánchez-Hernández RM, et al. Among authors: stef m. Circ Cardiovasc Genet. 2016 Dec;9(6):504-510. doi: 10.1161/CIRCGENETICS.116.001545. Epub 2016 Oct 26. Circ Cardiovasc Genet. 2016. PMID: 27784735

10

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

Etxebarria A, Palacios L, Stef M, Tejedor D, Uribe KB, Oleaga A, Irigoyen L, Torres B, Ostolaza H, Martin C. Etxebarria A, et al. Among authors: stef m. Hum Mutat. 2012 Jan;33(1):232-43. doi: 10.1002/humu.21630. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990180

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