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14q11.2-q12
A chromosome band present on 14q
National Institutes of Health
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Related topics
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5 relations
BCL2L2 wt Allele
Chromosomes
LTB4R wt Allele
PARP2 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
J. Tohyama
,
Toshiyuki Yamamoto
,
+5 authors
S. Saitoh
American Journal of Medical Genetics. Part A
2011
Corpus ID: 205315003
FOXG1 on chromosome 14 has recently been suggested as a dosage‐sensitive gene. Duplication of this gene could cause severe…
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2008
2008
Analysis of selected oncogenes (AKT1, FOS, BCL2L2, TGFbeta) on chromosome 14 in granulosa cell tumors (GCTs): a comprehensive study on 30 GCTs combining comparative genomic hybridization (CGH) and…
D. Mayr
,
A. Hirschmann
,
Sibylle Marlow
,
C. Horvath
,
J. Diebold
Pathology, Research and Practice
2008
Corpus ID: 43918631
2006
2006
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2‐q12
S. Malik
,
A. Abbasi
,
M. Ansar
,
W. Ahmad
,
M. Koch
,
K. Grzeschik
Clinical Genetics
2006
Corpus ID: 10887786
Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant…
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2005
2005
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12
D. Yan
,
X. Ke
,
+5 authors
X. Liu
Journal of Medical Genetics
2005
Corpus ID: 35650034
Background: Non-syndromic hearing loss is among the most genetically heterogeneous traits known in humans. To date, at least 50…
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Highly Cited
1999
Highly Cited
1999
Nix and Nip3 Form a Subfamily of Pro-apoptotic Mitochondrial Proteins*
Gao Chen
,
J. Cizeau
,
+6 authors
A. Greenberg
Journal of Biological Chemistry
1999
Corpus ID: 24446664
We have identified Nix, a homolog of the E1B 19K/Bcl-2 binding and pro-apoptotic protein Nip3. Human and murine Nix have a 56 and…
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Highly Cited
1999
Highly Cited
1999
A human poly(ADP-ribose) polymerase gene family (ADPRTL): cDNA cloning of two novel poly(ADP-ribose) polymerase homologues.
M. Johansson
Genomics
1999
Corpus ID: 20888706
Posttranscriptional modification of nuclear proteins by poly(ADP-ribosyl)ation in response to DNA strand breaks plays an…
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Highly Cited
1998
Highly Cited
1998
Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.
S. Modaressi
,
K. Brechtel
,
B. Christ
,
K. Jungermann
Biochemical Journal
1998
Corpus ID: 44431180
The mitochodrial (mt) phosphoenolpyruvate carboxykinase 2 (PCK2) gene was isolated by screening a human genomic library with a…
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1997
1997
Identification of an Efs isoform that lacks the SH3 domain and chromosomal mapping of human Efs
M. Ishino
,
T. Ohba
,
J. Inazawa
,
Hiroko Sasaki
,
Y. Ariyama
,
Terukatsu Sasaki
Oncogene
1997
Corpus ID: 30806816
Efs was originally found by expression cloning of a mouse embryo cDNA library through its Fyn-SH3 binding capacity (Ishino et al…
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Highly Cited
1996
Highly Cited
1996
Cloning of cDNA encoding a putative chemoattractant receptor.
C. Owman
,
C. Nilsson
,
S. Lolait
Genomics
1996
Corpus ID: 24587969
Based on polymerase chain reaction (PCR) utilizing degenerate primers directed to the second and sixth transmembrane domains of…
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1994
1994
Structure, promoter analysis and chromosomal assignment of the human APEX gene.
K. Akiyama
,
S. Seki
,
T. Oshida
,
M. Yoshida
Biochimica et Biophysica Acta
1994
Corpus ID: 25655670
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