Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

scientific article published on 28 January 2015

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1159/000371600
P932PMC publication ID4521070
P698PubMed publication ID26279650
P5875ResearchGate publication ID271841130

P50authorCarla Sustek D'AngeloQ57318933
P2093author name stringLuis G Alonso
Celia P Koiffmann
Mauren F Moller Dos Santos
P2860cites workLarge, rare chromosomal deletions associated with severe early-onset obesityQ24623878
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass indexQ29547208
Convergence of genes and cellular pathways dysregulated in autism spectrum disordersQ33794546
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.Q33892998
Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical PhenotypeQ34139374
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesQ34452268
Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of LiteratureQ35107268
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinationsQ35899350
Mouse model implicates GNB3 duplication in a childhood obesity syndromeQ37172992
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.Q37636755
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityQ38331099
Transcriptional targets of the schizophrenia risk gene MIR137.Q38979078
A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137.Q39026765
dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome.Q39946196
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorderQ50301287
Report on 3 patients with 12p duplication including GRIN2B.Q50690339
The natural history of trisomy 12p.Q52024986
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variantsQ57234933
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesityQ59697882
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplicationQ63203977
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesityQ84092102
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical regionQ85497839
P433issue2
P304page(s)63-70
P577publication date2015-01-28
P1433published inMolecular syndromologyQ26842514
P1476titleTwo New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity
P478volume6

Reverse relations

cites work (P2860)
Q92602807A VNTR Regulates miR-137 Expression Through Novel Alternative Splicing and Contributes to Risk for Schizophrenia
Q50015658A comprehensive review of the genetic and biological evidence supports a role for MicroRNA-137 in the etiology of schizophrenia.
Q50022682Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
Q64389728Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites
Q52565160Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
Q41660743MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
Q37609839Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
Q90114172Neurodevelopmental concepts of schizophrenia in the genome-wide association era: AKT/mTOR signaling as a pathological mediator of genetic and environmental programming during development
Q58611540Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a
Q60958314microRNAs Sculpt Neuronal Communication in a Tight Balance That Is Lost in Neurological Disease

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