Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. - Wikidata - wikimedia - TriplyDB

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

http://www.wikidata.org/entity/Q43075261

about

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Telomeres: a diagnosis at the end of the chromosomes Chromosome analysis: what and when to request "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)."Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature.Delineation of subtelomeric deletion of the long arm of chromosome 6.Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.A clinical case report and literature review of the 3q29 microdeletion syndrome.Subtelomeric rearrangements detected in patients with idiopathic mental retardation.Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia.6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome.Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients Bipolar disorder susceptibility region on chromosome 3q29 not confirmed in a case–control association study

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P2860

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

http://www.wikidata.org/entity/Q43075261

description

2001 nî lūn-bûn

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2001年の論文

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年學術文章

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2001年學術文章

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Journal of Medical Genetics

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Cryptic telomeric rearrangemen ...... congenital malformations.

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Bedeschi M

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Bonaglia M

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Borgatti R

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Carrozzo R

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Caselli D

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Castellan C

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Castiglia L

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Dagna Bricarelli F

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Danesino C

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Di Rocco M

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417-420

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scholarly article

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10.1136/JMG.38.6.417

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6

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38

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11424927

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1734891

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