Arveiler B - Search Results

1

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Among authors: arveiler b. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938

2

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Arveiler B, de Saint-Basile G, Fischer A, Griscelli C, Mandel JL. Arveiler B, et al. Am J Hum Genet. 1990 May;46(5):906-11. Am J Hum Genet. 1990. PMID: 1971143 Free PMC article.

3

Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.

Arveiler B, Vincent A, Mandel JL. Arveiler B, et al. Genomics. 1989 May;4(4):460-71. doi: 10.1016/0888-7543(89)90269-3. Genomics. 1989. PMID: 2501212

4

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.

Guioli S, Arveiler B, Bardoni B, Notarangelo LD, Panina P, Duse M, Ugazio A, Oberlé I, de Saint Basile G, Mandel JL, et al. Guioli S, et al. Among authors: arveiler b. Hum Genet. 1989 Dec;84(1):19-21. doi: 10.1007/BF00210664. Hum Genet. 1989. PMID: 2575070

5

Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).

Malcolm S, de Saint Basile G, Arveiler B, Lau YL, Szabo P, Fischer A, Griscelli C, Debre M, Mandel JL, Callard RE, et al. Malcolm S, et al. Among authors: arveiler b. Hum Genet. 1987 Oct;77(2):172-4. doi: 10.1007/BF00272387. Hum Genet. 1987. PMID: 2888720

6

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Arveiler B, Oberlé I, Vincent A, Hofker MH, Pearson PL, Mandel JL. Arveiler B, et al. Am J Hum Genet. 1988 Feb;42(2):380-9. Am J Hum Genet. 1988. PMID: 2893549 Free PMC article.

7

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.

Hanauer A, Alembik Y, Arveiler B, Formiga L, Gilgenkrantz S, Mandel JL. Hanauer A, et al. Among authors: arveiler b. Hum Genet. 1988 Oct;80(2):177-80. doi: 10.1007/BF00702863. Hum Genet. 1988. PMID: 2902000

8

Multilocus analysis of the fragile X syndrome.

Brown WT, Gross A, Chan C, Jenkins EC, Mandel JL, Oberlé I, Arveiler B, Novelli G, Thibodeau S, Hagerman R, et al. Brown WT, et al. Among authors: arveiler b. Hum Genet. 1988 Mar;78(3):201-5. doi: 10.1007/BF00291662. Hum Genet. 1988. PMID: 3162224

9

Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

Oberlé I, Camerino G, Wrogemann K, Arveiler B, Hanauer A, Raimondi E, Mandel JL. Oberlé I, et al. Among authors: arveiler b. Hum Genet. 1987 Sep;77(1):60-5. doi: 10.1007/BF00284716. Hum Genet. 1987. PMID: 3502701

10

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: arveiler b. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

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