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12q24.31

A chromosome band present on 12q
National Institutes of Health

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14 relations
12qCDK2AP1 wt AlleleChromosomesDENR wt Allele

Papers overview

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2014
2014
Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome
Abstract Background: Duane retraction syndrome (DRS) is the most common of the congenital cranial dysinnervation disorders (CCDDs… 
2010
2010
A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally
We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal… 
2007
2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12…
2006
2006
Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa Rica
Although asthma is a major public health problem in certain Hispanic subgroups in the United States and Latin America, only one… 
2005
2005
Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region
Previous results from our genetic analyses using pedigrees from a French Canadian population suggested that the interval… 
2005
2005
A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother
We report on a familial partial trisomy 12q in a girl and her father both of whom have an unbalanced translocation, der(16)t(12… 
2004
2004
Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder
1997
1997
Isolation, mapping, and mutation analysis of a human cDNA homologous to the doc‐1 gene of the Chinese hamster, a candidate tumor suppressor for oral cancer
We have isolated a human cDNA encoding a 115‐amino‐acid polypeptide that revealed 97% identity to a candidate tumor suppressor… 
1994
1994
Localization of the gene (RSN) coding for restin, a marker for Reed-Sternberg cells in Hodgkin's disease, to human chromosome band 12q24.3 and YAC cloning of the locus.
A novel 160-kDa intermediate filament associated protein, named restin (Reed-Sternberg intermediate filament associated protein… 
1985
1985
Partial trisomy 12q24.31----qter.
Clinical details of a male child with the karyotype 46,XY,-4,+der(4),t(4;12) (p16;q24.31)mat are reported and compared with those… 
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