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14q11.2-q12

A chromosome band present on 14q
National Institutes of Health

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5 relations
BCL2L2 wt AlleleChromosomesLTB4R wt AllelePARP2 wt Allele

Papers overview

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2011
2011
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
FOXG1 on chromosome 14 has recently been suggested as a dosage‐sensitive gene. Duplication of this gene could cause severe… 
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…
2006
2006
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2‐q12
Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant… 
2005
2005
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12
Background: Non-syndromic hearing loss is among the most genetically heterogeneous traits known in humans. To date, at least 50… 
Highly Cited
1999
Highly Cited
1999
Nix and Nip3 Form a Subfamily of Pro-apoptotic Mitochondrial Proteins*
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… 
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.
Posttranscriptional modification of nuclear proteins by poly(ADP-ribosyl)ation in response to DNA strand breaks plays an… 
Highly Cited
1998
Highly Cited
1998
Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.
The mitochodrial (mt) phosphoenolpyruvate carboxykinase 2 (PCK2) gene was isolated by screening a human genomic library with a… 
1997
1997
Identification of an Efs isoform that lacks the SH3 domain and chromosomal mapping of human Efs
Efs was originally found by expression cloning of a mouse embryo cDNA library through its Fyn-SH3 binding capacity (Ishino et al… 
Highly Cited
1996
Highly Cited
1996
Cloning of cDNA encoding a putative chemoattractant receptor.
Based on polymerase chain reaction (PCR) utilizing degenerate primers directed to the second and sixth transmembrane domains of… 
1994
1994
Structure, promoter analysis and chromosomal assignment of the human APEX gene.
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