"Molecular rulers" for calibrating phenotypic effects of telomere imbalance. - Wikidata - awgldk - TriplyDB

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

http://www.wikidata.org/entity/Q35438232

about

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p 16p subtelomeric duplication: a clinically recognizable syndrome.Advanced age increases chromosome structural abnormalities in human spermatozoa.Telomeres: a diagnosis at the end of the chromosomes Directly transmitted unbalanced chromosome abnormalities and euchromatic variants Array-based comparative genomic hybridization in clinical diagnosis.Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization.16p subtelomeric duplication with vascular anomalies: an Albanian case report and literature review Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.Subtelomeric rearrangements as neutral genomic polymorphisms.

P2860

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P2860

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

http://www.wikidata.org/entity/Q35438232

description

2002 nî lūn-bûn

@nan

2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

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2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

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2002年論文

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2002年论文

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name

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

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type

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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

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P1433

Journal of Medical Genetics

P1476

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

@en

P2093

A Wong

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C L Martin

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D H Ledbetter

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D J Waggoner

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E Zackai

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S D Pack

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S Uhrig

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P2860

Subtle chromosomal rearrangements in children with unexplained mental retardation

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16

Molecular studies of non-disjunction in trisomy 16.

Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier

Partial monosomy of distal 10q: three new cases and a review.

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

Assembly of microarrays for genome-wide measurement of DNA copy number.

An optimized set of human telomere clones for studying telomere integrity and architecture.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

P304

734-740

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scholarly article

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10.1136/JMG.39.10.734

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P407

P433

10

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P478

39

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2002-10-01T00:00:00Z

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12362030

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