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Xp22.1
A chromosome band present on Xp
National Institutes of Health
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Related topics
Related topics
4 relations
Chromosomes
PIGA wt Allele
SAT1 wt Allele
ZRSR2 wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis
Jieqiong Chen
,
K. Xu
,
Xiao-hui Zhang
,
Zhe Pan
,
B. Dong
,
Yang Li
Molecular Vision
2014
Corpus ID: 18233617
Purpose X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene in Xp22.1. These mutations lead to…
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2007
2007
Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome…
J. Weimer
,
S. Shivakumar
,
+4 authors
N. Arnold
Fertility and Sterility
2007
Corpus ID: 34999918
2004
2004
Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1
D. Trump
,
G. Pilia
,
+7 authors
R. Thakker
Human Genetics
2004
Corpus ID: 5036176
We have constructed a 3.6 Mb sequence tagged sites (STS)-based yeast artificial chromosome (YAC) contig, consisting of 58…
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2002
2002
Systemic lupus erythematosus and related autoimmune diseases are antigen-driven, epigenetic diseases.
W. Brooks
Medical Hypotheses
2002
Corpus ID: 24498356
2002
2002
Clinical study and haplotype analysis in two brothers with Partington syndrome.
S. Frints
,
M. Borghgraef
,
G. Froyen
,
P. Marynen
,
J. Fryns
American journal of medical genetics
2002
Corpus ID: 11793987
Partington et al. [1988] described a three-generation family (MRXS1, MIM *309510, PRTS) with a syndromic form of X-linked mental…
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2001
2001
Assignment1 of SH3KBP1 to human chromosome band Xp22.1→p21.3 by in situ hybridization
T. Narita
,
F. Amano
,
+5 authors
T. Taniyama
Cytogenetic and Genome Research
2001
Corpus ID: 30342776
Many tyrosine kinases have been proven to play important roles in signal transduction pathways by which extracellular ligands…
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2001
2001
Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).
T. Reinehr
,
A. Jauch
,
B. Zoll
,
U. Engel
,
I. Bartels
,
W. Andler
American journal of medical genetics
2001
Corpus ID: 23247079
Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with…
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1998
1998
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes.
M. Rocchigiani
,
M. Lestingi
,
+6 authors
S. Oliviero
Genomics
1998
Corpus ID: 27411960
We report the identification, structural characterization, and mapping of the human FIGF gene. FIGF is the human homologue of…
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1995
1995
Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1.
K. Kitagawa
,
X. Wang
,
+7 authors
A. Murata
Genomics
1995
Corpus ID: 21975594
We have isolated human homologues of the imprinted mouse gene, U2af1-rs1. Two different types of cDNAs and three distinct genomic…
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1994
1994
Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1.
Ana Eng
,
Robert Roger Lebel
,
B. Rafael Elejalde
,
Craig Anderson
,
Larry Bennett
Journal of American Academy of Dermatology
1994
Corpus ID: 4873264
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