Citations for
1FSHD2, FSHMD1A, SMCHD1
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.
J Med Genet Med Genet. 2019 Apr 22. pii: jmedgenet-2018-105949. doi: 10.1136/jmedgenet-2018-105949. [Epub ahead of print] 2019
2DUX4, FSHD2, FSHMD1A, SMCHD1
A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.
Mah JK, Chen YW.
J Pediatr Neurol 16(4):222-231. doi: 10.1055/s-0037-1604197. 2018
3DUX4, FSHD2, FSHMD1A, SMCHD1
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
Hum Mol Genet 27(20):3488-3497. doi: 10.1093/hmg/ddy236. 2018
4DNMT3B, FSHD2, FSHMD1A, SMCHD1
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM.
Am J Hum Genet 98(5):1020-9. doi: 10.1016/j.ajhg.2016.03.013. 2016
5FSHMD1A, SMCHD1
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.
Am J Hum Genet 93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26. 2013
6FSHMD1A
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.
Hum Mol Genet 22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17. 2013
7DUX4, FSHMD1A
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy.
Stadler G, Rahimov F, King OD, Chen JC, Robin JD, Wagner KR, Shay JW, Emerson CP Jr, Wright WE.
Nat Struct Mol Biol 20(6):671-8. doi: 10.1038/nsmb.2571. Epub 2013 May 5. 2013
8DUX4, FSHMD1A, PITX1
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, Chen YW, Mercier J, Coppée F, Belayew A.
J Cell Mol Med 17(1):76-89. doi: 10.1111/j.1582-4934.2012.01647.x. Epub 2012 Dec 4. 2013
9FSHMD1A
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 90(4):628-35. 2012
10FSHMD1A
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C.
J Med Genet 49(1):41-6. doi: 10.1136/jmedgenet-2011-100101. Epub 2011 Oct 7. 2012
11FSHMD1A, SMCHD1
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
Nat Genet 44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11. 2012
12DUX4, FSHMD1A
Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.
Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN, Miller DG.
PLoS One 7(4):e35532. doi: 10.1371/journal.pone.0035532. Epub 2012 Apr 20. 2012
13DUX4, FSHMD1A
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL.
Hum Mol Genet 21(20):4419-30. Epub 2012 Jul 13. 2012
14FSHMD1A
Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?
Fitzsimons RB.
Neuromuscul Disord 21(4):263-71. Epub 2011 Mar 4. Review. 2011
15DUX4, FSHMD1A
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
van der Maarel SM, Tawil R, Tapscott SJ.
Trends Mol Med 17(5):252-8. Epub 2011 Feb 1. Review. 2011
16DUX4, FSHMD1A
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.
Science 329(5999):1650-3. Epub 2010 Aug 19. 2010
17DUX4, FSHMD1A
FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis).
Pearson CE.
PLoS Genet 6(10):e1001180. No abstract available. 2010
18DUX4, FSHMD1A
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.
PLoS Genet 6(10):e1001181. 2010
19DUX4L9, FSHMD1A
Testing the effects of FSHD candidate gene expression in vertebrate muscle development.
Wuebbles RD, Long SW, Hanel ML, Jones PL.
Int J Clin Exp Pathol 3(4):386-400. 2010
20DUX4, DUXA, DUXB, FSHMD1A
A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.
Leidenroth A, Hewitt JE.
BMC Evol Biol 10:364. doi: 10.1186/1471-2148-10-364. 2010
21FSHMD1A
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.
Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M.
Proc Natl Acad Sci U S A 106(15):6220-5. Epub 2009 Apr 1. 2009
22DUX4, FSHMD1A
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ.
Hum Mol Genet 18(13):2414-30. Epub 2009 Apr 9. 2009
23FSHMD1A
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.
PLoS Genet 5(7):e1000559. Epub 2009 Jul 10. 2009
24FSHMD1A
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.
Hum Mutat 30(10):1449-59.PMID: 19728363 2009
25FSHMD1A
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.
Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G.
Neuromuscul Disord 18(3):204-9. Epub 2008 Mar 14.PMID: 18343111FSHMD1A 2008
26DUX4L9, FSHMD1A
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation.
Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, Perlingeiro R, Kyba M.
Exp Neurol 214(1):87-96. doi: 10.1016/j.expneurol.2008.07.022. Epub 2008 Aug 6. 2008
27DUX4,D4Z4,FSHMD1A
Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy.
Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, Scotting PJ, Armour JA, Hewitt JE.
Am J Hum Genet 81(2):264-79. Epub 2007 Jun 27. 2007
28D4Z4, FSHMD1A
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 81(5):884-94. Epub 2007 Sep 7. 2007
29DUX4, PITX1, FSHMD1A
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, MattŽotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, CoppŽe F, Chen YW.
Proc Natl Acad Sci U S A 104(46):18157-62. Epub 2007 Nov 5. 2007
30FSHMD1A
Facioscapulohumeral muscular dystrophy.
van der Maarel SM, Frants RR, Padberg GW.
Biochim Biophys Acta 1772(2):186-94. Epub 2006 Jun 6. Review. 2007
31FSHMD1A
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 68(8):578-82. Epub 2007 Jan 17. 2007
32FSHMD1A
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 69(10):1018-26. 2007
33DUX4, FSHMD1A
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.
Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL.
Neuromuscul Disord 17(8):611-23. Epub 2007 Jun 27. 2007
34FSHMD1A
Severe phenotype in infantile facioscapulohumeral muscular dystrophy.
Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM.
Neuromuscul Disord 16(9-10):553-8. Epub 2006 Aug 24. 2006
35ICF, RTT, FSHMD1A
Altered gene silencing and human diseases.
Perini G, Tupler R.
Clin Genet 69(1):1-7. 2006
36FSHMD1A, FRG1
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R.
Nature 439(7079):973-7. Epub 2005 Dec 11. 2006
37FSHMD1A, D4Z4
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.
Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS.
Proc Natl Acad Sci U S A 103(18):6982-7. Epub 2006 Apr 21. 2006
38FSHMD1A
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM.
Hum Genet 116(4):262-6. Epub 2005 Jan 12. 2005
39FSHMD1A
Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy.
Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, Van Der Maarel SM.
Am J Hum Genet 75(1):44-53. Epub 2004 May 20. 2004
40FSHMD1A
Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST.
Hum Mol Genet 13(17):1857-71. Epub 2004 Jul 06. 2004
41FRG2, FRG2B, FRG2L, FSHMD1A
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM.
J Med Genet 41(11):826-36. 2004
42FSHMD1A
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM.
Am J Hum Genet 75(6):1124-30. Epub 2004 Oct 04. 2004
43ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
Perturbations of chromatin structure in human genetic disease: recent advances.
Bickmore WA, Van Der Maarel SM.
Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
44FSHMD1A
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
Nat Genet 35(4):315-7. Epub 2003 Nov 23. 2003
45FSHMD1A
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 61(2):178-83. 2003
46FSHMD1A
Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.
Butz M, Koch MC, Muller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.
J Neurol 250(8):932-7. 2003
47FSHMD1A
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 61(7):909-13. 2003
48FSHMD1A
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
Nat Genet 32(2):235-6. 2002
49FSHMD1A
Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.
Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M.
Mol Genet Metab 74(3):322-31. 2001
50FSHMD1A
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR.
Am J Hum Genet 66(1):26-35. 2000
51FSHMD1A
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
Ricci E, et al.
Ann Neurol 45(6):751-7. 1999
52FRG1, FSHMD1A, TIG2R, TUB4Q
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.
van Geel M, et al.
Genomics 61(1):55-65 1999
53FSHMD1A
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy.
van Der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van Der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR.
J Med Genet 36(11):823-8 1999
54FSHMD1A
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
Zatz M, et al.
Am J Med Genet 77 : 155-161. 1998
55D10F104S2, FSHMD1A
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35 : implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
Lemmers RJLF, et al.
Hum Mol Genet 7 : 1207-1214. 1998
56D10F104S2, FSHMD1A
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.
Cacurri S, et al.
Am J Hum Genet 63 : 181-190. 1998
57FSHMD1A
Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.
Funakoshi M, et al.
Neurology 50 : 1791-1794. 1998
58FSHMD1A
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 35(9):778-83. 1998
59FSHMD1A
Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy.
Miura K, Kumagai T, Matsumoto A, Iriyama E, Watanabe K, Goto K, Arahata K.
Neuropediatrics 29 : 239-241. 1998
60D4Z4, FSHMD1A
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR.
Hum Mol Genet 7(8):1207-14. 1998
61FSHMD1A
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 149(1):73-9. 1997
62FSHMD1A
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS.
J Med Genet 34(6):476-9. 1997
63FSHMD1A
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy : diagnostic approach for sporadic and familial cases.
Bakker E, et al.
J Med Genet 33 : 29-35. 1996
64FSHMD1A
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Tupler R, et al.
J Med Genet 33 : 366-370. 1996
65FSHMD1A
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
Deidda G, et al.
J Med Genet 33 : 361-365. 1996
66FSHMD1A
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis.
Kšhler J, et al.
Hum Genet 98 : 485-490. 1996
67D4Z4, FSHMD1A
The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.
Winokur ST, et al.
Hum Mol Genet 5 : 1567-1575. 1996
68D4F104S2, FSHMD1A
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 JCT, et al.
Hum Mol Genet 5 : 1997-2003. 1996
69FSHMD1A, D4Z4
Analysis of the organisation and localisation of the FSHD-associated tandem array in primates : implications for the origin and evolution of the 3.3 kb repeat family.
Clark LN, et al.
Chromosoma 105 : 180-189. 1996
70FSHMD1A
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B.
Gilbert JR, et al.
J Med Genet 32 : 770-773. 1995
71FSHMD1A
Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus.
Tawil R, et al.
Arch Neurol 52 : 1069-1072. 1995
72FSHMD1A
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD).
Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M.
Hum Mol Genet 4(5):951-8. Erratum in: Hum Mol Genet 1995 Jul;4(7):1243-4. 1995
73FSHMD1A
Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD).
Lee JH, et al.
Muscle Nerve 2 : S27-S31. 1995
74FSHMD1A
Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.
Wijmenga C, et al.
Muscle Nerve 2 : S14-S18. 1995
75FSHMD1A
Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.
Lee JH, et al.
Muscle Nerve 2 : S6-S13. 1995
76FSHMD1A
Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35 : construction of a laser microdissection library.
Upadhyaya M, et al.
Am J Med Genet 60 : 244-251. 1995
77FSHMD1A
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.
Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR.
Muscle Nerve 2:S39-44. 1995
78FSHMD1A
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.
Zatz M, et al.
Am J Hum Genet 56 : 99-105. 1995
79FSHMD1A
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 19(1):21-6. 1994
80FSHMD1A
YAC contigs for 4q35 in the region of the facioscapulohumeral muscular dystrophy (FSHD) gene.
Weiffenbach B, et al.
Genomics 19 : 532-541. 1994
81FSHMD1A
Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD).
Cacurri S, et al.
Hum Genet 94 : 367-374. 1994
82FSHMD1A
High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q.
Bengtsson U, et al.
Hum Mol Genet 3 : 1801-1805. 1994
83FSHMD1A
A scapular onset muscular dystrophy without facial involvement : possible allelism with facioscapulohumeral muscular dystrophy.
Jardine PE, et al.
Neuromuscul Disord 4 : 477-482. 1994
84FSHMD1A
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR.
Hum Mol Genet 2(12):2037-42. 1993
85FSHMD1A
Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy.
Tawil R, et al.
Hum Mutat 2 : 492-494. 1993
86FSHMD1A
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
Passos-Bueno R, et al.
Hum Mol Genet 2 : 557-562. 1993
87FSHMD1A, SLC25A4
Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus.
Haraguchi Y, et al.
Genomics 16 : 479-485. 1993
88FSHMD1A
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events.
Weiffenbach B, et al.
Nat Genet 4 : 165-169. 1993
89FSHMD1A
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.
Upadhyaya M, et al.
Hum Mol Genet 2 : 981-987. 1993
90FSHMD1A
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
Gilbert JR, et al.
Am J Hum Genet 53 : 401-408. 1993
91FSHMD1A, SLC25A4
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
Wijmenga C, et al.
Hum Genet 92 : 198-203. 1993
92FSHMD1A
Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.
Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR.
Hum Mol Genet 2(10):1667-72. 1993
93FSHMD1A
Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
Wright TJ, et al.
Hum Mol Genet 2 : 1673-1678. 1993
94FSHMD1A
A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).
Winokur ST, et al.
Am J Hum Genet 53 : 874-880. 1993
95FSHMD1A, map4
Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).
Mills KA, et al.
Am J Hum Genet 51 : 432-439. 1992
96FSHMD1A
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.
Wijmenga C, et al.
Am J Hum Genet 51 : 411-415. 1992
97FSHMD1A
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).
Upadhyaya M, et al.
Am J Hum Genet 51 : 404-410. 1992
98FSHMD1A
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).
Gilbert JR, et al.
Am J Hum Genet 51 : 424-427. 1992
99FSHMD1A
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35 : combined analysis of an international consortium.
Sarfarazi M, et al.
Am J Hum Genet 51 : 396-403. 1992
100FSHMD1A
Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.
Mathews KD, et al.
Am J Hum Genet 51 : 428-431. 1992
101FSHMD1A
Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular distrophy (FSHD) gene to distal 4q35.
Weiffenbach B, et al.
Am J Hum Genet 51 : 416-423. 1992
102FSHMD1A
De novo DNA rearrangements in the subtelomeric region of chromosome 4q are associated with facioscapulohumeral muscular dystrophy.
Wijmenga C, et al.
Am J Hum Genet 51 : A22. 1992
103FSHMD1A
Genetic heterogeneity in facioscapulohumeral disease.
Iqbal Z, et al.
Am J Hum Genet 51 : A191. 1992
104FSHMD1A
Linkage studies of facioscapulohumeral dystrophy.
Mathews KD, et al.
Am J Hum Genet 51 : A195. 1992
105FSHMD1A
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.
Wijmenga C, et al.
Nat Genet 2 : 26-30. 1992
106FSHMD1A
Facioscapulohumeral muscular dystrophy defect identified.
Fishbeck KH, et al.
Nat Genet 2 : 3-4. 1992
107FSHMD1A
Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.
Passos-Bueno R, et al.
J Neurol Sci 102 : 206-208. 1991
108FSHMD1A
Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease.
Slipetz DM, et al.
Am J Hum Genet 48 : 502-510. 1991
109FSHMD1A
Linkage studies in facioscapulohumeral muscular dystrophy.
Gilbert JR, et al.
(HGM11) Cytogenet Cell Genet 58 : 1887. 1991
110FSHMD1A
Genetic homogeneity of facioscapulohumeral disease and clinical application of 4q35 markers.
Lunt PW, et al.
(HGM11) Cytogenet Cell Genet 58 : 1887. 1991
111FSHMD1A
An international collaborative study of facioscapulohumeral muscular dystrophy (FMD) locus and 4 DNA markers on 4q35 region.
Sarfarazi M, et al.
(HGM11) Cytogenet Cell Genet 58 : 1889. 1991
112FSHMD1A
Genetic mapping in the region of 4q35 in relation to facioscapulohumeral disease (FSHD).
Upadhyaya M, et al.
(HGM11) Cytogenet Cell Genet 58 : 1890. 1991
113FSHMD1A
Linkage map of facioscapulohumeral muscular dystrophy (fmd) and five polymorphic loci on chromosome 4q35-qter.
Wijmenga C, et al.
(HGM11) Cytogenet Cell Genet 58 : 1891. 1991
114FSHMD1A
High resolution mapping near the locus for FMD.
Mills KA, et al.
(HGM11) Cytogenet Cell Genet 58 : 1888. 1991
115FSHMD1A
Genetic counselling in facioscapulohumeral muscular dystrophy.
Lunt PW, et al.
J Med Genet 28 : 655-664. 1991
116FSHMD1A
A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.
Upadhyaya M, et al.
J Med Genet 28 : 665-671. 1991
117FSHMD1A
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.
Wijmenga C, et al.
Genomics 9 : 570-575. 1991
118FSHMD1A
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.
Wijmenga C, et al.
Lancet 336 : 651-653. 1990
119FSHMD1A
DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease.
Upadhyaya M, et al.
Lancet 336 : 1320-1321. 1990
120FSHMD1A
An exclusion map for facioscapulohumeral muscular dystrophy.
Lunt PW, et al.
(HGM9) Cytogenet Cell Genet 46 : 652. 1987