Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome - Wikidata - awgldk - TriplyDB

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

http://www.wikidata.org/entity/Q34743172

about

Duplication of a genomic region containing the Cdc2L1-2 and MMP21-22 genes on human chromosome 1p36.3 and their linkage to D1Z2 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.1p36 deletion syndrome: an update Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches Chromosome imbalances associated with epilepsy Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure Choroid plexus hyperplasia and monosomy 1p36: report of new findings.Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.Monosomy 1p36.Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.Epilepsy and chromosomal abnormalities.Calcium dependent CAMTA1 in adult stem cell commitment to a myocardial lineage Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Gene/environment causes of cleft lip and/or palate.Disorders caused by chromosome abnormalities.Telomeres: a diagnosis at the end of the chromosomes Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres Directly transmitted unbalanced chromosome abnormalities and euchromatic variants Molecular cytogenetic analysis of telomere rearrangements.Diverse roles for auxiliary subunits in phosphorylation-dependent regulation of mammalian brain voltage-gated potassium channels.Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells.Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization.Neuropathology of brain and spinal malformations in a case of monosomy 1p36.Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation.Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.Left Ventricular Non-compaction: Is It Genetic?When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.Growth patterns of patients with 1p36 deletion syndrome.Detection of 1p36 deletion by clinical exome-first diagnostic approach.Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

P2860

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P2860

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

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Increased expression of a 58-kDa protein kinase leads to changes in the CHO cell cycle

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

Clinical consequences of deletion 1p35.

Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

Prader-Willi syndrome: current understanding of cause and diagnosis.

[Deficiency on the short arms of a chromosome No. 4]

[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME.]

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

Constitutional 1p36 deletion in a child with neuroblastoma.

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642-650

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