Hu LJ - Search Results

1

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. Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139. Hum Mol Genet. 1996. PMID: 8789451

2

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A, et al. Dahl N, et al. Among authors: hu lj. Am J Hum Genet. 1995 May;56(5):1108-15. Am J Hum Genet. 1995. PMID: 7726166 Free PMC article.

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: hu lj. 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: hu lj. 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. Hum Genet. 1996 Aug;98(2):178-81. doi: 10.1007/s004390050185. Hum Genet. 1996. PMID: 8698337

6

Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers.

Hu LJ, Laporte J, Kress W, Dahl N. Hu LJ, et al. Prenat Diagn. 1996 Mar;16(3):231-7. doi: 10.1002/(SICI)1097-0223(199603)16:3<231::AID-PD842>3.0.CO;2-M. Prenat Diagn. 1996. PMID: 8710776

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: hu lj. Genomics. 1997 May 1;41(3):458-62. doi: 10.1006/geno.1997.4662. Genomics. 1997. PMID: 9169146

8

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL. Laporte J, et al. Among authors: hu lj. Eur J Hum Genet. 1998 Jul-Aug;6(4):325-30. doi: 10.1038/sj.ejhg.5200189. Eur J Hum Genet. 1998. PMID: 9781038

9

Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.

Hu LJ, Blumenfeld-Heyberger S, Hanauer A, Weissenbach J, Mandel JL. Hu LJ, et al. Am J Med Genet. 1994 Jul 15;51(4):569-74. doi: 10.1002/ajmg.1320510455. Am J Med Genet. 1994. PMID: 7943041

10

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: hu lj. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

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