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1q43-q44

A chromosome band present on 1q
National Institutes of Health

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Chromosomeschromosome 1q

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion
Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay… 
Review
2019
Review
2019
A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion
1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with… 
2018
2018
Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation… 
2017
2017
Chromosome microarray analysis in the investigation of children with congenital heart disease
BackgroundOur study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically… 
Review
2017
Review
2017
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly
As genome wide techniques become more common, an increasing proportion of patients with intellectual disability (ID) are found to… 
2013
2013
Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.
Highly Cited
2012
Highly Cited
2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
BackgroundUsher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing… 
Review
2008
Review
2008
Mapping of a new autosomal recessive non‐syndromic hearing impairment locus (DFNB45) to chromosome 1q43‐q44
To the Editor: Hearing impairment (HI) is a common sensory disorder that exhibits extensive genetic heterogeneity. Approximately… 
2007
2007
Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families
Asthma and bronchial hyper-responsiveness (BHR), an asthma-related phenotype, result from many genetic (G) and environmental (E… 
Highly Cited
2004
Highly Cited
2004
Genome-Wide Array-Based Comparative Genomic Hybridization of Diffuse Large B-Cell Lymphoma
Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin’s lymphoma and exhibits aggressive and heterogeneous… 
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