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Items: 1 to 20 of 188

1.

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.

Griggs RC, Tawil R, Storvick D, Mendell JR, Altherr MR.

Neurology. 1993 Nov;43(11):2369-72.

PMID:
8232958
2.

Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan.

Hsu YD, Kao MC, Shyu WC, Lin JC, Huang NE, Sun HF, Yang KD, Tsao WL.

J Neurol Sci. 1997 Jul;149(1):73-9.

PMID:
9168169
3.

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.

Passos-Bueno MR, Wijmenga C, Takata RE, Marie SK, Vainzof M, Pavanello RC, Hewitt JE, Bakker E, Carvalho A, Akiyama J, et al.

Hum Mol Genet. 1993 May;2(5):557-62.

PMID:
8518794
4.

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.

Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, et al.

Nat Genet. 1993 Jun;4(2):165-9.

PMID:
8102297
5.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

Neuromuscul Disord. 1997 Jan;7(1):55-62. Review.

PMID:
9132141
6.

Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis.

Köhler J, Rupilius B, Otto M, Bathke K, Koch MC.

Hum Genet. 1996 Oct;98(4):485-90.

PMID:
8792827
7.

Molecular genetics of facioscapulohumeral muscular dystrophy.

Wijmenga C, Frants RR, Hewitt JE, van Deutekom JC, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GJ.

Neuromuscul Disord. 1993 Sep-Nov;3(5-6):487-91. Review.

PMID:
8186699
8.

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.

Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al.

Nat Genet. 1992 Sep;2(1):26-30.

PMID:
1363881
9.

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R.

Am J Hum Genet. 1995 Jan;56(1):99-105.

10.

[Facioscapulohumeral muscular dystrophy (FSHD)].

Funakoshi M, Goto K, Kim BY, Arahata K.

Nihon Rinsho. 1997 Dec;55(12):3181-5. Review. Japanese.

PMID:
9436432
11.

[Genetic analysis of facioscapulohumeral muscular dystrophy (FSHD)].

Goto K, Song MD, Lee JH, Arahata K.

Rinsho Shinkeigaku. 1995 Dec;35(12):1416-8. Review. Japanese.

PMID:
8752415
12.

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.

Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR.

Genomics. 1994 Jan 1;19(1):21-6.

PMID:
7910579
13.

An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD).

Busse K, Köhler J, Stegmann K, Pongratz D, Koch MC, Schreiber H.

Neuromuscul Disord. 2000 Mar;10(3):178-81.

PMID:
10734264
14.

Facioscapulohumeral muscular dystrophy: clinical diversity and genetic abnormalities in Japanese patients.

Nakagawa M, Matsuzaki T, Higuchi I, Fukunaga H, Inui T, Nagamitsu S, Yamada H, Arimura K, Osame M.

Intern Med. 1997 May;36(5):333-9.

15.

DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations.

Goto K, Lee JH, Matsuda C, Hirabayashi K, Kojo T, Nakamura A, Mitsunaga Y, Furukawa T, Sahashi K, Arahata K.

Neuromuscul Disord. 1995 May;5(3):201-8.

PMID:
7633185
16.

Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

Weiffenbach B, Bagley R, Falls K, Hyser C, Storvick D, Jacobsen SJ, Schultz P, Mendell J, Willems van Dijk K, Milner EC, et al.

Am J Hum Genet. 1992 Aug;51(2):416-23.

17.

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.

Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC, Weber JL, van Ommen GB, Sandkuyl LA, et al.

Genomics. 1991 Apr;9(4):570-5.

PMID:
2037288
18.

Facioscapulohumeral muscular dystrophy in early childhood.

Brouwer OF, Padberg GW, Wijmenga C, Frants RR.

Arch Neurol. 1994 Apr;51(4):387-94. Review.

PMID:
8155016
19.

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.

Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN, Brouwer OF, Murray JC, van Ommen GJ, Padberg GW, et al.

Am J Hum Genet. 1992 Aug;51(2):411-5.

20.

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper PS, Lunt P.

Muscle Nerve Suppl. 1995;2:S45-9.

PMID:
7739625

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