164 related articles for article (PubMed ID: 9605290)
1. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
Zatz M; Marie SK; Cerqueira A; Vainzof M; Pavanello RC; Passos-Bueno MR
Am J Med Genet; 1998 May; 77(2):155-61. PubMed ID: 9605290
[TBL] [Abstract][Full Text] [Related]
2. Germline mosaicism and Duchenne muscular dystrophy mutations.
Bakker E; Van Broeckhoven C; Bonten EJ; van de Vooren MJ; Veenema H; Van Hul W; Van Ommen GJ; Vandenberghe A; Pearson PL
Nature; 1987 Oct 8-14; 329(6139):554-6. PubMed ID: 2889144
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
Kyndt F; Gueffet JP; Probst V; Jaafar P; Legendre A; Le Bouffant F; Toquet C; Roy E; McGregor L; Lynch SA; Newbury-Ecob R; Tran V; Young I; Trochu JN; Le Marec H; Schott JJ
Circulation; 2007 Jan; 115(1):40-9. PubMed ID: 17190868
[TBL] [Abstract][Full Text] [Related]
4. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
Darras BT; Francke U
Nature; 1987 Oct 8-14; 329(6139):556-8. PubMed ID: 2889145
[TBL] [Abstract][Full Text] [Related]
5. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
6. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Makri S; Clarke NF; Richard P; Maugenre S; Demay L; Bonne G; Guicheney P
Neuromuscul Disord; 2009 Jan; 19(1):26-8. PubMed ID: 19084400
[TBL] [Abstract][Full Text] [Related]
7. 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; 19(1):21-6. PubMed ID: 7910579
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 7825608
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane HM; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein EM; Eymard B; Duboc D; Penisson-Besnier I; Cuisset JM; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567
[TBL] [Abstract][Full Text] [Related]
10. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.
van Deutekom JC; Bakker E; Lemmers RJ; van der Wielen MJ; Bik E; Hofker MH; Padberg GW; Frants RR
Hum Mol Genet; 1996 Dec; 5(12):1997-2003. PubMed ID: 8968754
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 14659410
[TBL] [Abstract][Full Text] [Related]
12. Systemic membrane defect in the proximal muscular dystrophies.
Pickard NA; Gruemer HD; Verrill HL; Isaacs ER; Robinow M; Nance WE; Myers EC; Goldsmith B
N Engl J Med; 1978 Oct; 299(16):841-6. PubMed ID: 308614
[TBL] [Abstract][Full Text] [Related]
13. A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
Moore SW; Zaahl MG
J Pediatr Surg; 2008 Feb; 43(2):325-9. PubMed ID: 18280283
[TBL] [Abstract][Full Text] [Related]
14. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
Hahn AF; Bolton CF; White CM; Brown WF; Tuuha SE; Tan CC; Ainsworth PJ
Ann N Y Acad Sci; 1999 Sep; 883():366-82. PubMed ID: 10586261
[TBL] [Abstract][Full Text] [Related]
15. [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. PubMed ID: 12778451
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 7739625
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 8792827
[TBL] [Abstract][Full Text] [Related]
18. [Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families].
Delgado-Luengo WN; Borjas-Fuentes L; Zabala-Fernández W; Fernández-Salgado E; Solís-Añez E; Chávez C; Martínez-Basalo C; González-Ferrer S; Rojas-Atencio A; Morales-Machin A; Peña J; Pineda-Bernal L; González R; Miranda LE; Delgado-Luengo J; Hernández ML; Chacín JA; Quintero M
Invest Clin; 2002 Dec; 43(4):239-54. PubMed ID: 12520997
[TBL] [Abstract][Full Text] [Related]
19. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.
Sakata K; Shimizu M; Ino H; Yamaguchi M; Terai H; Fujino N; Hayashi K; Kaneda T; Inoue M; Oda Y; Fujita T; Kaku B; Kanaya H; Mabuchi H
Circulation; 2005 Jun; 111(25):3352-8. PubMed ID: 15967842
[TBL] [Abstract][Full Text] [Related]
20. Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population.
Forsman E; Cantor RM; Lu A; Eriksson A; Fellman J; Järvelä I; Forsius H
Acta Ophthalmol Scand; 2007 Aug; 85(5):500-7. PubMed ID: 17655611
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
