Kress W - 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. Among authors: kress w. Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139. Hum Mol Genet. 1996. PMID: 8789451

2

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: kress w. Hum Mol Genet. 1997 Sep;6(9):1505-11. doi: 10.1093/hmg/6.9.1505. Hum Mol Genet. 1997. PMID: 9305655

3

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL. Laporte J, et al. Among authors: kress w. Hum Mutat. 2000;15(5):393-409. doi: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. Hum Mutat. 2000. PMID: 10790201 Review.

4

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

Laporte J, Kress W, Mandel JL. Laporte J, et al. Among authors: kress w. Ann Neurol. 2001 Jul;50(1):42-6. doi: 10.1002/ana.1033. Ann Neurol. 2001. PMID: 11456308

5

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. Among authors: kress w. 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

6

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Biancalana V, et al. Among authors: kress w. Hum Genet. 2003 Feb;112(2):135-42. doi: 10.1007/s00439-002-0869-1. Epub 2002 Nov 28. Hum Genet. 2003. PMID: 12522554

7

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. Smolenicka Z, et al. Among authors: kress w. Neuromuscul Disord. 1996 Aug;6(4):275-81. doi: 10.1016/0960-8966(96)00364-1. Neuromuscul Disord. 1996. PMID: 8887957 Review.

8

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Böhm J, et al. Among authors: kress w. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Brain. 2014. PMID: 25260562

9

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J. Biancalana V, et al. Among authors: kress w. Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.91. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617344 Free PMC article. No abstract available.

10

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. Smolenicka Z, et al. Among authors: kress w. Hum Genet. 1996 Dec;98(6):681-4. doi: 10.1007/s004390050284. Hum Genet. 1996. PMID: 8931700

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