L. Hu

发表

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.

Yaping Qian, Zhihua Tao, M. Guan, 2007, Gene.

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

J. Mandel, D. Cohen, V. Biancalana, 1995, American journal of human genetics.

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

C. Cremers, M. Bitner-Glindzicz, H. Brunner, 1996, Human molecular genetics.

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

A. Poustka, J. Mandel, W. Kress, 1996, Human molecular genetics.

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

A. Poustka, J. Mandel, J. Laporte, 1997, Genomics.

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

J. Weissenbach, J. Mandel, A. Hanauer, 1994, American journal of medical genetics.

X-linked myotubular myopathy: Refinement of the critical gene region

J. Laporte, W. Kress, N. Dahl, 1996, Neuromuscular Disorders.

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

M. Fardeau, J. Gouyon, N. Dahl, 1995, American journal of human genetics.

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

A. Poustka, J. Mandel, G. Herman, 1994, Journal of medical genetics.