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16p13.3

A chromosome band present on 16p
National Institutes of Health

Related topics

Related topics

25 relations
ADCY9 wt AlleleAXIN1 wt AlleleCREBBP wt AlleleChromosome 16 Short Arm

Papers overview

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Review
2016
Review
2016
A Family From Turkey With 761_764dupCCGC (p.Asn256Argfs70,c.761_764dupCCGC) MEFV Gene Mutation,Their Clinical Features and Review of The Literature
Ailesel Akdeniz Atesi (FMF) primer olarak Musevi, Ermeni, Turk ve Arap populasyonunu etkileyen otozomal resesif gecisli bir… 
2014
2014
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway… 
2013
2013
Recent advances in the management of children with familial Mediterranean fever
Familial Mediterranean fever (FMF) is the most frequent hereditary autoinflammatory disease characterized by self-limited… 
2011
2011
Особенности течения беременности и ведения беременных при периодической болезни
The problem of studying the periodic disease (PD) has almost a centennial history. A new stage in diagnosing and evaluating the… 
2010
2010
Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Correction to: European Journal of Human Genetics advance online publication 7 October 2009; doi: 10.1038/ejhg.2009.152 Since the… 
Review
2008
Review
2008
[Autosomal dominant polycystic kidney disease].
Autosomal dominant polycystic kiney disease is a hereditary systemic disorder, characterized by the developement of cysts, mainly… 
Review
2004
Review
2004
Autosomal recessive and dominant polycystic kidney diseases.
It is possible to identify renal cysts in several subjects by ultrasonography imaging techniques. Among the inherited polycystic… 
1999
1999
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
Abstract. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a… 
Highly Cited
1994
Highly Cited
1994
The predisposing gene of the Eker rat inherited cancer syndrome is tightly linked to the tuberous sclerosis (TSC2) gene.
The Eker rat is a promising animal model of cancer predisposition syndromes. In this study, using 129 backcross animals, we have… 
Review
1994
Review
1994
[Rubinstein-Taybi syndrome].
The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by mental and growth… 
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