Mathieu M - Search Results

1

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D. Abdelhak S, et al. Among authors: mathieu m. Hum Mol Genet. 1997 Dec;6(13):2247-55. doi: 10.1093/hmg/6.13.2247. Hum Mol Genet. 1997. PMID: 9361030

2

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.

Weil D, Portnoï MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C. Weil D, et al. Among authors: mathieu m. Hum Mol Genet. 1993 Nov;2(11):1853-6. doi: 10.1093/hmg/2.11.1853. Hum Mol Genet. 1993. PMID: 8281147

3

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al. Bonnet D, et al. Among authors: mathieu m. Nat Genet. 1994 Apr;6(4):405-8. doi: 10.1038/ng0494-405. Nat Genet. 1994. PMID: 8054983

4

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. Among authors: mathieu m. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.

5

SHOX point mutations in dyschondrosteosis.

Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: mathieu m. J Med Genet. 2001 May;38(5):323. doi: 10.1136/jmg.38.5.323. J Med Genet. 2001. PMID: 11403039 Free PMC article. No abstract available.

6

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Odent S, et al. Among authors: mathieu m. Hum Mol Genet. 1999 Sep;8(9):1683-9. doi: 10.1093/hmg/8.9.1683. Hum Mol Genet. 1999. PMID: 10441331

7

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al. Mathieu M, et al. Ann Genet. 1997;40(1):45-54. Ann Genet. 1997. PMID: 9150850

8

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Biancalana V, Briard ML, David A, Gilgenkrantz S, Kaplan J, Mathieu M, Piussan C, Poncin J, Schinzel A, Oudet C, et al. Biancalana V, et al. Among authors: mathieu m. Am J Hum Genet. 1992 May;50(5):981-7. Am J Hum Genet. 1992. PMID: 1349200 Free PMC article.

9

Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.

Chevalier-Porst F, Mathieu M, Bozon D. Chevalier-Porst F, et al. Among authors: mathieu m. Hum Mol Genet. 1993 Jul;2(7):1071-2. doi: 10.1093/hmg/2.7.1071. Hum Mol Genet. 1993. PMID: 7689898 No abstract available.

10

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

Piussan C, Hanauer A, Dahl N, Mathieu M, Kolski C, Biancalana V, Heyberger S, Strunski V. Piussan C, et al. Among authors: mathieu m. Am J Hum Genet. 1995 Jan;56(1):224-30. Am J Hum Genet. 1995. PMID: 7825582 Free PMC article.

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