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7p21.2

A chromosome band present on 7p
National Institutes of Health

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ChromosomesTWIST1 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Population-specific genetic modification of Huntington ' s disease in Venezuela 1 2
2017
2017
Insertionally polymorphic sites of human endogenous retrovirus-K (HML-2) with long target site duplications
Human endogenous retroviruses (HERVs) belong to the LTR-retrotransposon family, where the complete HERV sequence contains two… 
2007
2007
Die TMPRSS2-ETS-Genfusion beim Prostatakarzinom
ZusammenfassungHintergrundBisher galten rekurrente Translokationen und Genfusionen bei den sehr häufigen epithelialen Tumoren als… 
Review
2007
Review
2007
[TMPRSS2-ETS gene fusion in prostate cancer].
BACKGROUND Recurrent chromosomal rearrangements have not been well characterized in common carcinomas. Using a novel… 
2007
2007
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis
We describe a female infant with complex craniosynostosis, significant craniofacial dysmorphism and developmental delay in which… 
2007
2007
Actualités sur la biologie du cancer de la prostate
La mise en évidence récente (1) de gènes de fusion dans une majorité de cancers de la prostate représente une véritable r… 
2006
2006
Trigonocephaly in Muenke syndrome
Saethre‐Chotzen syndrome is caused by mutations in the TWIST gene on chromosome 7p21.2. However, Muenke et al. [(1997); Am J Hum… 
2006
2006
Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
An 8-year-old boy presenting with hypotonia, moderate mental retardation, developmental delay, and psychomotor retardation is… 
1994
1994
Localisation of the gene for Saethre-Chotzen syndrome by FISH using four cases with apparently balanced translocations at 7p21.2
Saethre-Chotzen is a common autosomal dominant form of craniosynostosis, which results in the premature fusion of cranial sutures… 
1993
1993
Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.
Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in… 
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