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5q13.1
A chromosome band present on 5q
National Institutes of Health
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4 relations
Chromosomes
NAIP wt Allele
PIK3R1 wt Allele
chromosome 5q
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Enhanced support for linkage to chromosome 5q13.1 and hypertension in the British Genetics of Hypertension (BRIGHT) study.
P. Munroe
,
C. Wallace
,
+17 authors
M. Caulfield
2005
Corpus ID: 80164893
10th Annual Meeting of the European-Council-for-Cardiovascular-Research Oct 14-16, 2005 Nice, FRANCE European Council Cardiovasc…
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2003
2003
Molecular diagnostics of promyelocytic leukaemia.
J. Kocki
,
M. Constantinou
,
+4 authors
J. Wojcierowski
Journal of Applied Genetics
2003
Corpus ID: 35304678
Acute promyelocytic leukaemia (APL) is characterised by proliferation of abnormal promyelocytes. The reciprocal translocation…
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1999
1999
Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria
I. Kremensky
,
S. Jankova
,
E. Bochukova
,
M. Uzunova
,
I. Litvinenko
,
A. Jordanova
Journal of Inherited Metabolic Disease
1999
Corpus ID: 21798916
Spinal muscular atrophy (SMA) is a frequent autosomal recessive disorder, characterized by degeneration of α-motoneurons in the…
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Highly Cited
1998
Highly Cited
1998
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
Q. Chen
,
S. Baird
,
+8 authors
A. MacKenzie
Genomics
1998
Corpus ID: 43829946
The spinal muscular atrophies (SMA), which are characterized by motor neuron loss and progressive paralysis, are among the most…
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1998
1998
The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3
J. Banyer
,
S. Goldwurm
,
+5 authors
E. Jazwinska
Mammalian Genome
1998
Corpus ID: 6466449
Paralogous regions are duplicated segments of chromosomal DNA that have been acquired during the evolution of the genome…
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1996
1996
FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13.
E. Rajcan-Separovic
,
M. Mahadevan
,
+4 authors
A. MacKenzie
Cytogenetics and Cell Genetics
1996
Corpus ID: 3291497
The search for the SMA defect has culminated in the identification of two candidate 5q13.1 SMA genes, NAIP and SMN both of which…
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Review
1996
Review
1996
[Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].
R. Spiegel
,
A. Hagmann
,
E. Boltshauser
,
H. Moser
Swiss medical weekly
1996
Corpus ID: 31593169
Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder. The…
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1995
1995
A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy
Z. Yaraghi
,
M. McLean
,
+4 authors
A. MacKenzie
Human Genetics
1995
Corpus ID: 24091759
The gene for the childhood spinal muscular atrophies (SMAs) has been mapped to 5q13.1. The interval containing the SMA gene has…
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1994
1994
A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene.
C. Sargent
,
I. Chalmers
,
M. Leversha
,
N. Affara
Mammalian Genome
1994
Corpus ID: 13538920
A novel transcript containing homology to exons 5, 9, 10, and 11 of the beta-glucuronidase gene has been shown to be derived from…
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1994
1994
A rearrangement on Chromosome 5 of an expressed human β-glucuronidase pseudogene
Carole A. Sargent
,
I. Chalmers
,
Margaret A. Leversha
,
N. Affara
Mammalian Genome
1994
Corpus ID: 21613776
A novel transcript containing homology to exons 5, 9, 10, and 11 of the β-glucuronidase gene has been shown to be derived from…
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