Goossens M - Search Results

1

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.

Moutereau S, Narwa R, Matheron C, Vongmany N, Simon E, Goossens M. Moutereau S, et al. Among authors: goossens m. Hum Mutat. 2004 Jun;23(6):621-8. doi: 10.1002/humu.20045. Hum Mutat. 2004. PMID: 15146467

2

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.

Costes B, Fanen P, Goossens M, Ghanem N. Costes B, et al. Among authors: goossens m. Hum Mutat. 1993;2(3):185-91. doi: 10.1002/humu.1380020306. Hum Mutat. 1993. PMID: 7689902

3

A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.

Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M. Ghanem N, et al. Among authors: goossens m. Hum Mutat. 1992;1(3):229-39. doi: 10.1002/humu.1380010310. Hum Mutat. 1992. PMID: 1301930

4

Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: application to the detection of point mutations in acute leukemias.

Pignon JM, Vinatier I, Fanen P, Jonveaux P, Tournilhac O, Imbert M, Rochant H, Goossens M. Pignon JM, et al. Among authors: goossens m. Hum Mutat. 1994;3(2):126-32. doi: 10.1002/humu.1380030207. Hum Mutat. 1994. PMID: 8199593

5

Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.

Gandrille S, Vidaud M, Aiach M, Alhenc-Gelas M, Fischer AM, Gouault-Heilman M, Toulon P, Fiessinger JN, Goossens M. Gandrille S, et al. Among authors: goossens m. Hum Mutat. 1992;1(6):491-500. doi: 10.1002/humu.1380010607. Hum Mutat. 1992. PMID: 1301959

6

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P. Girodon-Boulandet E, et al. Among authors: goossens m. Hum Mutat. 2000 Sep;16(3):274-5. doi: 10.1002/1098-1004(200009)16:3<274::aid-humu21>3.3.co;2-6. Hum Mutat. 2000. PMID: 10980545

7

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S. Cazeneuve C, et al. Among authors: goossens m. Am J Hum Genet. 1999 Jul;65(1):88-97. doi: 10.1086/302459. Am J Hum Genet. 1999. PMID: 10364520 Free PMC article.

8

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

Tchernitchko D, Legendre M, Delahaye A, Cazeneuve C, Niel F, Goossens M, Amselem S, Girodon E. Tchernitchko D, et al. Among authors: goossens m. Clin Chem. 2003 Nov;49(11):1942-5. doi: 10.1373/clinchem.2003.021212. Clin Chem. 2003. PMID: 14578331 Clinical Trial. No abstract available.

9

Review and update of mutations causing Waardenburg syndrome.

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Among authors: goossens m. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.

10

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, Bondurand N. Chaoui A, et al. Among authors: goossens m. Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21898658 Free article.

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