104 related articles for article (PubMed ID: 8789451)
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
Hum Mol Genet; 1996 Jan; 5(1):139-43. PubMed ID: 8789451
[TBL] [Abstract][Full Text] [Related]
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
Am J Hum Genet; 1995 May; 56(5):1108-15. PubMed ID: 7726166
[TBL] [Abstract][Full Text] [Related]
3. 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
Genomics; 1997 May; 41(3):458-62. PubMed ID: 9169146
[TBL] [Abstract][Full Text] [Related]
4. X-linked myotubular myopathy: refinement of the critical gene region.
Smolenicka Z; Laporte J; Hu L; Dahl N; Fitzpatrick J; Kress W; Liechti-Gallati S
Neuromuscul Disord; 1996 Aug; 6(4):275-81. PubMed ID: 8887957
[TBL] [Abstract][Full Text] [Related]
5. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.
Bartsch O; Kress W; Wagner A; Seemanova E
Cytogenet Cell Genet; 1999; 85(3-4):310-4. PubMed ID: 10449925
[TBL] [Abstract][Full Text] [Related]
6. A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).
Kioschis P; Rogner UC; Pick E; Klauck SM; Heiss N; Siebenhaar R; Korn B; Coy JF; Laporte J; Liechti-Gallati S; Poustka A
Genomics; 1996 May; 33(3):365-73. PubMed ID: 8660996
[TBL] [Abstract][Full Text] [Related]
7. 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
J Med Genet; 1994 Dec; 31(12):922-4. PubMed ID: 7891372
[TBL] [Abstract][Full Text] [Related]
8. 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
Hum Mol Genet; 1997 Sep; 6(9):1505-11. PubMed ID: 9305655
[TBL] [Abstract][Full Text] [Related]
9. 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
Hum Genet; 1996 Aug; 98(2):178-81. PubMed ID: 8698337
[TBL] [Abstract][Full Text] [Related]
10. X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
Lehesjoki AE; Sankila EM; Miao J; Somer M; Salonen R; Rapola J; de la Chapelle A
J Med Genet; 1990 May; 27(5):288-91. PubMed ID: 1972196
[TBL] [Abstract][Full Text] [Related]
11. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Tsai TC; Horinouchi H; Noguchi S; Minami N; Murayama K; Hayashi YK; Nonaka I; Nishino I
Neuromuscul Disord; 2005 Mar; 15(3):245-52. PubMed ID: 15725586
[TBL] [Abstract][Full Text] [Related]
12. Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
Vincent MC; Guiraud-Chaumeil C; Laporte J; Manouvrier-Hanu S; Mandel JL
J Med Genet; 1998 Mar; 35(3):241-3. PubMed ID: 9541111
[TBL] [Abstract][Full Text] [Related]
13. Genetic linkage heterogeneity in myotubular myopathy.
Samson F; Mesnard L; Heimburger M; Hanauer A; Chevallay M; Mercadier JJ; Pelissier JF; Feingold N; Junien C; Mandel JL
Am J Hum Genet; 1995 Jul; 57(1):120-6. PubMed ID: 7611280
[TBL] [Abstract][Full Text] [Related]
14. Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).
Kioschis P; Wiemann S; Heiss NS; Francis F; Götz C; Poustka A; Taudien S; Platzer M; Wiehe T; Beckmann G; Weber J; Nordsiek G; Rosenthal A
Genomics; 1998 Dec; 54(2):256-66. PubMed ID: 9828128
[TBL] [Abstract][Full Text] [Related]
15. 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
Nat Genet; 1996 Jun; 13(2):175-82. PubMed ID: 8640223
[TBL] [Abstract][Full Text] [Related]
16. X-linked myotubular myopathy: a linkage study.
Darnfors C; Larsson HE; Oldfors A; Kyllerman M; Gustavson KH; Bjursell G; Wahlström J
Clin Genet; 1990 May; 37(5):335-40. PubMed ID: 1972354
[TBL] [Abstract][Full Text] [Related]
17. Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.
de Gouyon B; Chatterjee A; Monaco A; Quaderi N; Brown SD; Herman GE
Mamm Genome; 1996 Aug; 7(8):575-9. PubMed ID: 8678976
[TBL] [Abstract][Full Text] [Related]
18. Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1).
Smolenicka Z; Guerini D; Carafoli E; Kress W; Liechti-Gallati S
Hum Genet; 1996 Dec; 98(6):681-4. PubMed ID: 8931700
[TBL] [Abstract][Full Text] [Related]
19. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
Tanner SM; Laporte J; Guiraud-Chaumeil C; Liechti-Gallati S
Hum Mutat; 1998; 11(1):62-8. PubMed ID: 9450905
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers.
Hu LJ; Laporte J; Kress W; Dahl N
Prenat Diagn; 1996 Mar; 16(3):231-7. PubMed ID: 8710776
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
