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Xq25-q26
A chromosome band present on Xq
National Institutes of Health
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3 relations
Chromosomes
GRIA3 wt Allele
SH2D1A wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
A. Shiels
,
T. Bennett
,
J. Prince
,
L. Tychsen
Molecular Vision
2007
Corpus ID: 16497766
PURPOSE Infantile nystagmus is a clinically and genetically heterogeneous eye movement disorder. Here we map and identify the…
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2007
2007
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
D. Cilliers
,
R. Parveen
,
+6 authors
J. Clayton-Smith
European Journal of Medical Genetics
2007
Corpus ID: 19642878
2000
2000
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
W. Röschinger
,
A. Muntau
,
G. Rudolph
,
A. Roscher
,
S. Kammerer
Molecular Genetics and Metabolism
2000
Corpus ID: 9970115
Lowe oculocerebrorenal syndrome (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts…
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1999
1999
Sixth World Congress of Psychiatric Genetics X Chromosome Workshop.
A. D. Paterson
,
Lynn E Delisi
,
+10 authors
Susan L. Smalley
1999
Corpus ID: 28426148
At the X chromosome workshop of the Sixth World Congress on Psychiatric Genetics, new data regarding psychiatric phenotypes and…
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1998
1998
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
H. Yntema
,
Ben C.J. Hamel
,
+8 authors
H. Bokhoven
Journal of Medical Genetics
1998
Corpus ID: 19369180
We report linkage data on a new large family with non-specific X linked mental retardation (MRX), using 24 polymorphic markers…
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Highly Cited
1997
Highly Cited
1997
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
Maria Lagerstrom‐Fermer
,
M. Sundvall
,
+7 authors
U. Pettersson
American Journal of Human Genetics
1997
Corpus ID: 28226263
We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism…
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Highly Cited
1992
Highly Cited
1992
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
O. Attrée
,
I. Olivos
,
+5 authors
R. Nussbaum
Nature
1992
Corpus ID: 4246631
LOWE'S oculocerebrorenal syndrome1–3 (OCRL) is a human X-linked developmental disorder of unknown pathogenesis4–8 and has a…
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1992
1992
X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male
J. Mulley
,
A. Turner
,
+5 authors
D. Purtilo
Clinical Genetics
1992
Corpus ID: 25965103
Chorionic Villous Biopsy (CVS) for diagnosis of XLP was undertaken at 10 weeks gestation in an obligate carrier. The fetus was…
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1992
1992
Isolation of cDNA sequences around the chromosomal breakpoint in a female with lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes
I. Okabe
,
O. Attrée
,
L. C. Bailey
,
D. Nelson
,
R. Nussbaum
Journal of Inherited Metabolic Disease
1992
Corpus ID: 23929044
SummaryThe Lowe oculocerebrorenal syndrome (OCRL; McKusick 309000) is an X-linked disorder characterized by congenital cataracts…
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1989
1989
Multipoint linkage mapping of the Xq25‐q26 region in a family affected by the X‐linked lymphoproliferative syndrome
B. Sylla
,
Qing Wang
,
Daniel Hayoz
,
G. Lathrop
,
G. Lenoir
Clinical Genetics
1989
Corpus ID: 40315085
We have performed, in a large Swiss family, a study of linkage between various DNA markers in the Xq24–27 region and the locus…
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