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1q42-q43

A chromosome band present on 1q
National Institutes of Health

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5 relations
AGT wt AlleleChromosomesEXO1 wt AlleleLGALS8 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Sanjad-Sakati syndrome in a Tunisian child.
Review
2012
Review
2012
Oral manifestations of patients with Kenny-Caffey Syndrome.
Highly Cited
2007
Highly Cited
2007
Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features
Background— Catecholaminergic polymorphic ventricular tachycardia is a disease characterized by ventricular arrhythmias elicited… 
Review
2006
Review
2006
Hypoparathyroidism‐retardation‐dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation—clinical report and review
Hypoparathyroidism‐retardation‐dysmorphism (HRD) or Sanjad–Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR… 
Highly Cited
2002
Highly Cited
2002
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas
Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and… 
Review
2001
Review
2001
Heterogeneity of genetic alterations in prostate cancer: evidence of the complex nature of the disease.
Prostate cancer is a complex, multifactorial disease with genetic and environmental factors involved in its etiology. The search… 
1999
1999
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth… 
1999
1999
Expression specificity of the mouse exonuclease 1 (mExo1) gene.
Genetic recombination involves either the homo-logous exchange of nearly identical chromosome regions or the direct alignment… 
1998
1998
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
Kenny-Caffey syndrome (KCS) is an osteosclerotic bone dysplasia with associated hypocalcemia and ocular abnormalities. Both… 
1996
1996
Assignment of the human weak inward rectifier K+ channel TWIK-1 gene to chromosome 1q42-q43.
This report describes the localization of the human weak inward rectifier potassium channel gene, TWIK-1, to human chromosome… 
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