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Items: 1 to 20 of 85

1.

Mutation spectrum and phenotypic manifestation in FSHD Greek patients.

Sakellariou P, Kekou K, Fryssira H, Sofocleous C, Manta P, Panousopoulou A, Gounaris K, Kanavakis E.

Neuromuscul Disord. 2012 Apr;22(4):339-49. doi: 10.1016/j.nmd.2011.11.001. Epub 2012 Feb 21.

PMID:
22357364
2.

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).

Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M.

Neuromuscul Disord. 2004 Jan;14(1):33-8.

PMID:
14659410
3.
4.

Severe phenotype in infantile facioscapulohumeral muscular dystrophy.

Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM.

Neuromuscul Disord. 2006 Oct;16(9-10):553-8. Epub 2006 Aug 24.

PMID:
16934468
5.

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S.

J Neurol. 2003 Sep;250(9):1084-7.

PMID:
14504970
6.

[Gene diagnosis of facioscapulohumeral muscular dystrophy].

Zhang JL, Shen DG, Zhou PK, Liu JW, Jia N, Liu H, Wang HB, Yang SX, Frants RR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):232-4. Chinese.

PMID:
12778451
7.

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.

Vielhaber S, Jakubiczka S, Schröder JM, Sailer M, Feistner H, Heinze HJ, Wieacker P, Bettecken T.

Muscle Nerve. 2002 Apr;25(4):540-8.

PMID:
11932972
8.

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].

Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S.

Nervenarzt. 2003 Feb;74(2):151-8. German.

PMID:
12596016
9.

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.

Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M.

Neurology. 2003 Jul 22;61(2):178-83.

PMID:
12874395
10.

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
11.

FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation.

Wu ZY, Wang ZQ, Murong SX, Wang N.

Neurology. 2004 Aug 10;63(3):581-3.

PMID:
15304602
12.

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, Tiepolo L, Ferlini A.

J Med Genet. 1998 Sep;35(9):778-83.

13.

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C.

Neurology. 2006 Oct 24;67(8):1464-6.

PMID:
17060574
14.

Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy.

Wang CH, Leung M, Liang WC, Hsieh TJ, Chen TH, Jong YJ.

Neuromuscul Disord. 2012 Apr;22(4):331-8. doi: 10.1016/j.nmd.2011.10.018. Epub 2011 Dec 7.

PMID:
22153988
15.

[Mechanism of translocation between chromosomes 4q and 10q in facioscapulohumeral muscular dystrophy].

Wang N, Wu ZY, Wang CD, Wang ZQ, Lin MT, Fang L, Murong SX.

Zhonghua Yi Xue Za Zhi. 2003 Apr 25;83(8):650-3. Chinese.

PMID:
12887821
16.

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.

Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR.

Neurology. 2007 Feb 20;68(8):578-82. Epub 2007 Jan 17.

PMID:
17229919
17.

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report].

Dorobek M, Kabzińska D, Ryniewicz B, Fidziańska-Dolot A, Hausmanowa-Petrusewicz I.

Neurol Neurochir Pol. 2004 Mar-Apr;38(2):83-8. Polish.

PMID:
15307599
18.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R.

Neurology. 2007 Feb 20;68(8):569-77. Epub 2006 Dec 6.

PMID:
17151338
19.

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
20.

Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.

Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.

J Neurol. 2003 Aug;250(8):932-7.

PMID:
12928911

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