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1q44

A chromosome band present on 1q
National Institutes of Health

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3 relations
ChromosomesNLRP3 wt AlleleSMYD3 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal… 
2012
2012
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.
2008
2008
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
2007
2007
Dandy‐Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)
A 10‐year‐old boy with vermis hypoplasia, dilatation of the fourth ventricle, enlarged cisterna magna and aplasia of the corpus… 
Highly Cited
2006
Highly Cited
2006
Genome-wide linkage scan in a large bipolar disorder sample from the National Institute of Mental Health genetics initiative suggests putative loci for bipolar disorder, psychosis, suicide, and panic…
We conducted a 9-cM genome scan in a large bipolar pedigree sample from the National Institute of Mental Health genetics… 
Highly Cited
2006
Highly Cited
2006
Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4
Alcoholism is a relatively common, chronic, disabling and often treatment-resistant disorder. Evidence from twin and adoption… 
Highly Cited
2003
Highly Cited
2003
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P
Abstract. Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominant inflammatory disease with a high degree of… 
Highly Cited
1999
Highly Cited
1999
Up-regulation of Akt3 in Estrogen Receptor-deficient Breast Cancers and Androgen-independent Prostate Cancer Lines*
We measured the insulin-stimulated amount of Akt1, Akt2, and Akt3 enzymatic activities in four breast cancer cell lines and three… 
1995
1995
Assignment of the 49-kDa (PRIM1) and 58-kDa (PRIM2A and PRIM2B) subunit genes of the human DNA primase to chromosome bands 1q44 and 6p11.1-p12.
DNA primase is an essential replication protein that catalyzes the synthesis of oligoribonucleotide primers. DNA primase… 
Highly Cited
1991
Highly Cited
1991
The CEPH consortium linkage map of human chromosome 1.
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