S van der Maarel
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Explore the profile of S van der Maarel including associated specialties, affiliations and a list of published articles.
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11
Citations
110
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Recent Articles
1.
Tim R, Gilbert J, Stajich J, Rampersaud E, Viles K, Tawil R, et al.
J Clin Neuromuscul Dis
. 2008 Dec;
3(1):1-7.
PMID: 19078645
Objectives: To characterize clinically and molecularly a large, non-chromosome 4-linked facioscapulohumeral muscular dystrophy (FSHMD) family. Methods: Neurological evaluations of affected (N = 55) and at-risk (N = 48) individuals were...
2.
Sacconi S, Salviati L, Bourget I, Figarella D, Pereon Y, Lemmers R, et al.
Neurology
. 2006 Oct;
67(8):1464-6.
PMID: 17060574
The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient...
3.
Buzhkov B, Vuzharova R, Dimitrova V, Dimova I, Turnev I, van der Wielen M, et al.
Akush Ginekol (Sofiia)
. 2005 Apr;
44(2):30-3.
PMID: 15853025
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy. It is characterized by progressive descendent involvement of facial, shoulder girdle, truncal and lower extremities muscles. FSHD locus was mapped...
4.
Beckers M, Gabriels J, van der Maarel S, De Vriese A, Frants R, Collen D, et al.
Gene
. 2001 Mar;
264(1):51-7.
PMID: 11245978
The human genome contains hundreds of repeats of the 3.3 kb family in regions associated with heterochromatin. We have previously isolated a 3.3 kb-like cDNA encoding a double homeodomain protein...
5.
Nothwang H, Schroer A, van der Maarel S, Kubart S, Schneider S, Riesselmann L, et al.
Cytogenet Cell Genet
. 2000 Nov;
90(1-2):126-33.
PMID: 11060462
Mental retardation is a very common and extremely heterogeneous disorder that affects about 3% of the human population. Its molecular basis is largely unknown, but many loci have been mapped...
6.
Scheer M, van der Maarel S, Kubart S, Schulz A, Wirth J, Schweiger S, et al.
Genomics
. 2000 Feb;
63(1):123-32.
PMID: 10662551
DXS6673E is a candidate gene for nonspecific X-linked mental retardation and encodes a novel Zn-finger protein. The ortholog murine gene DXHXS6673E in XC-D was isolated and characterized. It is ubiquitously...
7.
Stout K, van der Maarel S, Frants R, Padberg G, Ropers H, Haaf T
Chromosome Res
. 1999 Oct;
7(5):323-9.
PMID: 10515207
Fluorescence in-situ hybridization (FISH) has been used to study the spatial orientation of subtelomeric chromosome regions in the interphase nucleus. Compared to interstitial chromosomal sites, subtelomeres showed an increased number...
8.
Wirth J, Nothwang H, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, et al.
J Med Genet
. 1999 May;
36(4):271-8.
PMID: 10227392
Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of...
9.
Grewal P, TODD L, van der Maarel S, Frants R, Hewitt J
Gene
. 1998 Aug;
216(1):13-9.
PMID: 9714712
The human FRG1 gene maps to human chromosome 4q35 and was identified as a candidate for facioscapulohumeral muscular dystrophy. However, FRG1 is apparently not causally associated with the disease and...
10.
Kingsley K, Wirth J, van der Maarel S, Freier S, Ropers H, Haaf T
Cytogenet Cell Genet
. 1997 Jan;
78(1):12-9.
PMID: 9345897
We have generated a human subtelomere probe panel, utilizing well characterized CEPH YACs, for the investigation of human chromosome pathology and evolution through fluorescent in situ hybridization (FISH). Region-specific FISH...