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3q23
A chromosome band present on 3q
National Institutes of Health
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Related topics
5 relations
Chromosomes
FOXL2 wt Allele
TFDP2 wt Allele
XRN1 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians
Yang Luo
,
S. Suliman
,
+18 authors
S. Raychaudhuri
Nature Communications
2019
Corpus ID: 201103232
Of the 1.8 billion people worldwide infected with Mycobacterium tuberculosis, 5–15% will develop active tuberculosis (TB…
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2014
2014
Adrenal Medullary Hyperplasia Is a Precursor Lesion for Pheochromocytoma in MEN2 Syndrome12
E. Korpershoek
,
B. Petri
,
+6 authors
W. Dinjens
Neoplasia
2014
Corpus ID: 30737968
Highly Cited
2007
Highly Cited
2007
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.
F. Liu
,
A. Arias-Vasquez
,
+11 authors
C. V. van Duijn
American journal of human genetics
2007
Corpus ID: 31146258
Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who…
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Review
2003
Review
2003
Evidence for defective retinoid transport and function in late onset Alzheimer's disease
A. Goodman
,
A. Pardee
Proceedings of the National Academy of Sciences…
2003
Corpus ID: 25634036
The hypothesis of this article is that late onset Alzheimer's disease (AD) is influenced by the availability in brain of retinoic…
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Highly Cited
2001
Highly Cited
2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L. Crisponi
,
M. Deiana
,
+19 authors
G. Pilia
Nature Genetics
2001
Corpus ID: 26750194
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure…
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Highly Cited
2001
Highly Cited
2001
A 11.7-kb deletion triggers intersexuality and polledness in goats
E. Pailhoux
,
B. Vigier
,
+8 authors
Daniel Vaiman
Nature Genetics
2001
Corpus ID: 38284439
Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial…
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Highly Cited
2000
Highly Cited
2000
Identification of three new members of the phospholipid scramblase gene family.
T. Wiedmer
,
Q. Zhou
,
D. Kwoh
,
P. Sims
Biochimica et biophysica acta
2000
Corpus ID: 8975596
1999
1999
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP…
E. De Baere
,
N. Van Roy
,
F. Speleman
,
Y. Fukushima
,
A. De Paepe
,
L. Messiaen
Genomics
1999
Corpus ID: 24247902
BPES is a genetic disorder presenting with blepharophimosis, ptosis of the eyelids, epicanthus inversus, and telecanthus. BPES…
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Review
1993
Review
1993
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
T. Jewett
,
P. N. Rao
,
R. Weaver
,
W. Stewart
,
I. Thomas
,
M. Pettenati
American journal of medical genetics
1993
Corpus ID: 37187143
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial…
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Highly Cited
1991
Highly Cited
1991
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.
Y. Fukushima
,
K. Wakui
,
T. Nishida
,
Y. Ueoka
American journal of medical genetics
1991
Corpus ID: 30453543
We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and…
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