Liechti-Gallati S - Search Results

1

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. Monaco AP, et al. Genomics. 1988 Jan;2(1):90-5. doi: 10.1016/0888-7543(88)90113-9. Genomics. 1988. PMID: 3384440

2

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. Kioschis P, et al. Genomics. 1996 May 1;33(3):365-73. doi: 10.1006/geno.1996.0212. Genomics. 1996. PMID: 8660996

3

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S. Tanner SM, et al. Among authors: liechti gallati s. Neuromuscul Disord. 1999 Jan;9(1):41-9. doi: 10.1016/s0960-8966(98)00090-x. Neuromuscul Disord. 1999. PMID: 10063835

4

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Liechti-Gallati S, Koenig M, Kunkel LM, Frey D, Boltshauser E, Schneider V, Braga S, Moser H. Liechti-Gallati S, et al. Hum Genet. 1989 Mar;81(4):343-8. doi: 10.1007/BF00283688. Hum Genet. 1989. PMID: 2784778

5

Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).

Müller B, Dechant C, Meng G, Liechti-Gallati S, Doherty RA, Hejtmancik JF, Bakker E, Read AP, Jeanpierre M, Fischbeck KH, et al. Müller B, et al. Hum Genet. 1992 May;89(2):204-6. doi: 10.1007/BF00217124. Hum Genet. 1992. PMID: 1587532

6

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Müller CR, Müller B. Grimm T, et al. J Med Genet. 1994 Mar;31(3):183-6. doi: 10.1136/jmg.31.3.183. J Med Genet. 1994. PMID: 8014964 Free PMC article.

7

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. Hum Genet. 1996 Dec;98(6):681-4. doi: 10.1007/s004390050284. Hum Genet. 1996. PMID: 8931700

8

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. Tanner SM, et al. Hum Mutat. 1998;11(1):62-8. doi: 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1998. PMID: 9450905

9

[Quadriceps myopathy as dystrophin-associated myopathy].

von Mitzlaff HC, Liechti-Gallati S, Rösler KM, Burgunder JM. von Mitzlaff HC, et al. Schweiz Med Wochenschr. 1993 Oct 9;123(40):1865-9. Schweiz Med Wochenschr. 1993. PMID: 8211039 Review. German.

10

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S. Tanner SM, et al. Among authors: liechti gallati s. Hum Genet. 1999 Mar;104(3):249-53. doi: 10.1007/s004390050943. Hum Genet. 1999. PMID: 10323249

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