Lemmers RJ - Search Results

1

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. Lemmers RJ, et al. Am J Hum Genet. 2004 Dec;75(6):1124-30. doi: 10.1086/426035. Epub 2004 Oct 4. Am J Hum Genet. 2004. PMID: 15467981 Free PMC article.

2

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.

van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. van Deutekom JC, et al. Among authors: lemmers rj. Hum Mol Genet. 1996 May;5(5):581-90. doi: 10.1093/hmg/5.5.581. Hum Mol Genet. 1996. PMID: 8733123

3

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. van Deutekom JC, et al. Among authors: lemmers rj. Hum Mol Genet. 1996 Dec;5(12):1997-2003. doi: 10.1093/hmg/5.12.1997. Hum Mol Genet. 1996. PMID: 8968754

4

The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.

Grewal PK, van Deutekom JC, Mills KA, Lemmers RJ, Mathews KD, Frants RR, Hewitt JE. Grewal PK, et al. Among authors: lemmers rj. Mamm Genome. 1997 Jun;8(6):394-8. doi: 10.1007/s003359900454. Mamm Genome. 1997. PMID: 9166581

5

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. Lemmers RJ, et al. Hum Mol Genet. 1998 Aug;7(8):1207-14. doi: 10.1093/hmg/7.8.1207. Hum Mol Genet. 1998. PMID: 9668160

6

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).

van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: lemmers rj. J Med Genet. 1999 Nov;36(11):823-8. J Med Genet. 1999. PMID: 10544225 Free PMC article.

7

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. van der Maarel SM, et al. Among authors: lemmers rj. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.

8

Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35.

van Geel M, van Deutekom JC, van Staalduinen A, Lemmers RJ, Dickson MC, Hofker MH, Padberg GW, Hewitt JE, de Jong PJ, Frants RR. van Geel M, et al. Among authors: lemmers rj. Cytogenet Cell Genet. 2000;88(3-4):316-21. doi: 10.1159/000015518. Cytogenet Cell Genet. 2000. PMID: 10828619

9

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. van Overveld PG, et al. Among authors: lemmers rj. Hum Mol Genet. 2000 Nov 22;9(19):2879-84. doi: 10.1093/hmg/9.19.2879. Hum Mol Genet. 2000. PMID: 11092764

10

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst 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. Leegwater PA, et al. Among authors: lemmers rj. Nat Genet. 2001 Dec;29(4):383-8. doi: 10.1038/ng764. Nat Genet. 2001. PMID: 11704758

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