223 related articles for article (PubMed ID: 22217918)
1. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
Scionti I; Fabbri G; Fiorillo C; Ricci G; Greco F; D'Amico R; Termanini A; Vercelli L; Tomelleri G; Cao M; Santoro L; Percesepe A; Tupler R
J Med Genet; 2012 Mar; 49(3):171-8. PubMed ID: 22217918
[TBL] [Abstract][Full Text] [Related]
2. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I; Greco F; Ricci G; Govi M; Arashiro P; Vercelli L; Berardinelli A; Angelini C; Antonini G; Cao M; Di Muzio A; Moggio M; Morandi L; Ricci E; Rodolico C; Ruggiero L; Santoro L; Siciliano G; Tomelleri G; Trevisan CP; Galluzzi G; Wright W; Zatz M; Tupler R
Am J Hum Genet; 2012 Apr; 90(4):628-35. PubMed ID: 22482803
[TBL] [Abstract][Full Text] [Related]
3. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Ricci G; Scionti I; Sera F; Govi M; D'Amico R; Frambolli I; Mele F; Filosto M; Vercelli L; Ruggiero L; Berardinelli A; Angelini C; Antonini G; Bucci E; Cao M; Daolio J; Di Muzio A; Di Leo R; Galluzzi G; Iannaccone E; Maggi L; Maruotti V; Moggio M; Mongini T; Morandi L; Nikolic A; Pastorello E; Ricci E; Rodolico C; Santoro L; Servida M; Siciliano G; Tomelleri G; Tupler R
Brain; 2013 Nov; 136(Pt 11):3408-17. PubMed ID: 24030947
[TBL] [Abstract][Full Text] [Related]
4. Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
Dai Y; Li P; Wang Z; Liang F; Yang F; Fang L; Huang Y; Huang S; Zhou J; Wang D; Cui L; Wang K
J Med Genet; 2020 Feb; 57(2):109-120. PubMed ID: 31506324
[TBL] [Abstract][Full Text] [Related]
5. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
Lemmers RJ; Wohlgemuth M; van der Gaag KJ; van der Vliet PJ; van Teijlingen CM; de Knijff P; Padberg GW; Frants RR; van der Maarel SM
Am J Hum Genet; 2007 Nov; 81(5):884-94. PubMed ID: 17924332
[TBL] [Abstract][Full Text] [Related]
6. 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; 61(2):178-83. PubMed ID: 12874395
[TBL] [Abstract][Full Text] [Related]
7. Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G; Mele F; Govi M; Ruggiero L; Sera F; Vercelli L; Bettio C; Santoro L; Mongini T; Villa L; Moggio M; Filosto M; Scarlato M; Previtali SC; Tripodi SM; Pegoraro E; Telese R; Di Muzio A; Rodolico C; Bucci E; Antonini G; D'Angelo MG; Berardinelli A; Maggi L; Piras R; Maioli MA; Siciliano G; Tomelleri G; Angelini C; Tupler R
Sci Rep; 2020 Dec; 10(1):21648. PubMed ID: 33303865
[TBL] [Abstract][Full Text] [Related]
8. Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.
Ricci G; Zatz M; Tupler R
Curr Mol Med; 2014; 14(8):1052-1068. PubMed ID: 25323867
[TBL] [Abstract][Full Text] [Related]
9. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
Wohlgemuth M; Lemmers RJ; van der Kooi EL; van der Wielen MJ; van Overveld PG; Dauwerse H; Bakker E; Frants RR; Padberg GW; van der Maarel SM
Neurology; 2003 Oct; 61(7):909-13. PubMed ID: 14557558
[TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.
Ki CS; Lee ST; Kim KS; Kim JW; Hong YH; Sung JJ; Park KS; Lee KW
J Korean Med Sci; 2008 Dec; 23(6):959-63. PubMed ID: 19119436
[TBL] [Abstract][Full Text] [Related]
11. Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Nikolic A; Jones TI; Govi M; Mele F; Maranda L; Sera F; Ricci G; Ruggiero L; Vercelli L; Portaro S; Villa L; Fiorillo C; Maggi L; Santoro L; Antonini G; Filosto M; Moggio M; Angelini C; Pegoraro E; Berardinelli A; Maioli MA; D'Angelo G; Di Muzio A; Siciliano G; Tomelleri G; D'Esposito M; Della Ragione F; Brancaccio A; Piras R; Rodolico C; Mongini T; Magdinier F; Salsi V; Jones PL; Tupler R
Int J Mol Sci; 2020 Apr; 21(7):. PubMed ID: 32290091
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
Ruggiero L; Mele F; Manganelli F; Bruzzese D; Ricci G; Vercelli L; Govi M; Vallarola A; Tripodi S; Villa L; Di Muzio A; Scarlato M; Bucci E; Antonini G; Maggi L; Rodolico C; Tomelleri G; Filosto M; Previtali S; Angelini C; Berardinelli A; Pegoraro E; Moggio M; Mongini T; Siciliano G; Santoro L; Tupler R
JAMA Netw Open; 2020 May; 3(5):e204040. PubMed ID: 32356886
[TBL] [Abstract][Full Text] [Related]
13. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J; Goossens R; Lemmers RJLF; Straasheijm KR; van der Vliet PJ; Heuvel AVD; Cambieri C; Capet N; Feasson L; Manel V; Contet J; Kriek M; Donlin-Smith CM; Ruivenkamp CAL; Heard P; Tapscott SJ; Cody JD; Tawil R; Sacconi S; van der Maarel SM
J Med Genet; 2018 Jul; 55(7):469-478. PubMed ID: 29563141
[TBL] [Abstract][Full Text] [Related]
14. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.
Thomas NS; Wiseman K; Spurlock G; MacDonald M; Ustek D; Upadhyaya M
J Med Genet; 2007 Mar; 44(3):215-8. PubMed ID: 16987949
[TBL] [Abstract][Full Text] [Related]
15. Molecular basis of facioscapulohumeral muscular dystrophy.
Tupler R; Gabellini D
Cell Mol Life Sci; 2004 Mar; 61(5):557-566. PubMed ID: 15004695
[TBL] [Abstract][Full Text] [Related]
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; 68(8):578-82. PubMed ID: 17229919
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 12928911
[TBL] [Abstract][Full Text] [Related]
18. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
Ehrlich M; Jackson K; Tsumagari K; Camaño P; Lemmers RJ
Chromosoma; 2007 Apr; 116(2):107-16. PubMed ID: 17131163
[TBL] [Abstract][Full Text] [Related]
19. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC; Wohlgemuth M; Chan OA; Hansson KB; Smeets D; Frants RR; Weemaes CM; Padberg GW; van der Maarel SM
Neurology; 2007 Sep; 69(10):1018-26. PubMed ID: 17785671
[TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.
Qiu L; Ye Z; Lin L; Wang L; Lin X; He J; Lin F; Xu G; Cai N; Jin M; Chen H; Lin M; Wang N; Wang Z
J Med Genet; 2020 Nov; 57(11):777-785. PubMed ID: 32170003
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
