Mandel JL - Search Results

1

Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France.

Titerlea V, Dembélé D, Mandel JL, Laporte J. Titerlea V, et al. Among authors: mandel jl. Eur J Med Genet. 2020 Apr;63(4):103770. doi: 10.1016/j.ejmg.2019.103770. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536829

2

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

Dahl N, Laporte J, Hu L, Biancalana V, Le Palier D, Cohen D, Piussan C, Mandel JL. Dahl N, et al. Among authors: mandel jl. Am J Hum Genet. 1995 Apr;56(4):999-1002. Am J Hum Genet. 1995. PMID: 7717411 Free PMC article. No abstract available.

3

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL. Dahl N, et al. Among authors: mandel jl. J Med Genet. 1994 Dec;31(12):922-4. doi: 10.1136/jmg.31.12.922. J Med Genet. 1994. PMID: 7891372 Free PMC article.

4

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. Laporte J, et al. Among authors: mandel jl. Nat Genet. 1996 Jun;13(2):175-82. doi: 10.1038/ng0696-175. Nat Genet. 1996. PMID: 8640223

5

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.

Hu LJ, Laporte J, Kioschis P, Heyberger S, Kretz C, Poustka A, Mandel JL, Dahi N. Hu LJ, et al. Among authors: mandel jl. Hum Genet. 1996 Aug;98(2):178-81. doi: 10.1007/s004390050185. Hum Genet. 1996. PMID: 8698337

6

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. Hu LJ, et al. Among authors: mandel jl. Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139. Hum Mol Genet. 1996. PMID: 8789451

7

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL, Dahl N. Laporte J, et al. Among authors: mandel jl. Genomics. 1997 May 1;41(3):458-62. doi: 10.1006/geno.1997.4662. Genomics. 1997. PMID: 9169146

8

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.

Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL. Guiraud-Chaumeil C, et al. Among authors: mandel jl. Am J Hum Genet. 1997 Jun;60(6):1542-4. doi: 10.1016/S0002-9297(07)64249-9. Am J Hum Genet. 1997. PMID: 9199578 Free PMC article. No abstract available.

9

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE. de Gouyon BM, et al. Among authors: mandel jl. Hum Mol Genet. 1997 Sep;6(9):1499-504. doi: 10.1093/hmg/6.9.1499. Hum Mol Genet. 1997. PMID: 9285787

10

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E. Laporte J, et al. Among authors: mandel jl. Hum Mol Genet. 1997 Sep;6(9):1505-11. doi: 10.1093/hmg/6.9.1505. Hum Mol Genet. 1997. PMID: 9305655

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