Rearrangements within the facioscapulohumeral muscular dystrophy locus: mechanism, timing and consequences.

(1)

locus: mechanism, timing and consequences.

Lemmers, R.

Citation

Lemmers, R. (2005, June 15). Rearrangements within the facioscapulohumeral muscular

dystrophy locus: mechanism, timing and consequences. Retrieved from

https://hdl.handle.net/1887/2699

Version: Corrected Publisher’s Version

(2)

Bibliography

Bookchapter

Lemmers RJ,van der W ielen M J,Bakker E,van der M aarelSM . (2004) M olecular diagnosis of FSHD. Chapter 15, page 211-234 In: Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. Edited by M . Upadhyaya and D.N. Cooper, BIOS Scientific publishers

Articles

Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der M aarelSM . (2005) Genetic confirmation of facioscapulohumeralmuscular dystrophy in a case with complex D4Z4 rearrangments. Hum Genet. 116:262-266.

Lemmers RJ,W ohlgemuth M ,Frants RR,Padberg GW ,M orava E,van der M aarelSM . (2004) Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral M uscular Dystrophy. Am J Hum Genet. 75:1124-1130.

Rijkers T, Deidda G, van Koningsbruggen S, van Geel M , Lemmers RJ, van Deutekom JC, Figlewicz D,HewittJE,Padberg GW ,Frants RR,van der M aarelSM . (2004) FRG2,an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet. 41:826-836.

Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW , Frants RR, van der M aarelSM . (2004) M echanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeatinvolved in facioscapulohumeralmuscular dystrophy. Am J Hum Genet. 75:44-53.

Lemmers RJ, van der W ielen M J, Bakker E, Padberg GW , Frants RR, van der M aarel SM . (2004) Somatic mosaicism in FSHD often goes undetected. Ann Neurol. 55:845-850.

Tonini M M , Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der M aarel SM , Frants RR, Zatz M . (2004) Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does notresultin a more severe phenotype. J Med Genet. 41:e17.

(3)

borderline D4Z4 repeat numbers. J Neurol. 250:932-937.

Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. (2003) D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology. 22:178-183.

Lemmers RJ, de Kievit P, Sandkuijl LA, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. (2002) Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet. 32:235-236.

Lemmers RJ, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. (2001) Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol. 50:816-819.

Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. (2001) Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet. 29:383-388.

van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl LA, Padberg GW, Frants RR, van der Maarel SM. (2000) Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet. 22:2879-2884.

van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl LA, Bakker E, van Ommen GJ, Padberg GW, Frants RR. (2000) De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet. 66:26-35.

van Geel M, van Deutekom JC, van Staalduinen A, Lemmers RJ, Dickson MC, Hofker MH, Padberg GW, Hewitt JE, de Jong PJ, Frants RR. (2000) Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenet Cell Genet. 88:316-321.

Grewal PK, Jones AM, Maconochie M, Lemmers RJ, Frants RR, Hewitt JE. (1999) Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing. Gene. 29_:389-398.

(4)

Bibliography

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. (1998) Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet. 7:1207-1214.

Grewal PK, van Deutekom JC, Mills KA, Lemmers RJ, Mathews KD, Frants RR, Hewitt JE. (1997) The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome. 8:394-398.

van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. (1996) Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet. 5:1997-2003.

van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. (1996) Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet. 5:581-590.

(5)

(6)

Curriculum Vitae

De auteur van ditproefschriftwerd op 5 oktober 1966 geboren te Voorhout.

Zijn middelbare schoolopleiding volgde hij aan het Rijnlands Lyceum te Sassenheim, waar hij in 1984 het HAVO diploma behaalde. Van 1985 tot 1989 volgde hij Hoger Laboratorium Onderwijs aan het Rijnland College te Leiderdorp. Na het behalen van het HLO diploma (Biochemie) in 1989 begon hij aansluitend met de studie Scheikunde aan de Rijksuniversiteit Leiden.Zijn doctoraaldiploma behaalde hijin 1991.

Vervolgens was de auteur werkzaam bij de afdeling Pathologie van het Leids Universitair M edisch Centrum te Leiden. In 1994 werd hij aangesteld als research analist op het facioscapulohumerale spierdystrofie (FSHD) project bij de afdeling Humane en Klinische Genetica van hetLeids Universitair M edisch Centrum onder leiding van Prof.Dr.R.R.Frants. In 2001 werd begonnen methetpromotieonderzoek ‘rearrangements in hetFSHD locus’ onder leiding van Dr. Ir. S.M . van der M aarel, Prof. Dr. R.R. Frants en Prof. Dr. G.W . Padberg waarvan de resultaten zijn beschreven in ditproefschrift.

(7)