Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications. - Wikidata - awgldk - TriplyDB

Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

http://www.wikidata.org/entity/Q33892480

about

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

P2860

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P2860

Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

http://www.wikidata.org/entity/Q33892480

description

2000 nî lūn-bûn

@nan

2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

Trisomy 7p resulting from 7p15 ...... ociated medical complications.

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Trisomy 7p resulting from 7p15 ...... ociated medical complications.

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type

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Trisomy 7p resulting from 7p15 ...... ociated medical complications.

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Trisomy 7p resulting from 7p15 ...... ociated medical complications.

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prefLabel

Trisomy 7p resulting from 7p15 ...... ociated medical complications.

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Trisomy 7p resulting from 7p15 ...... ociated medical complications.

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P356

(SICI)1096-8628(20000410)91:4%3C286::AID-AJMG9%3E3.0.CO;2-2

P1433

American Journal of Medical Genetics Part A

P1476

Trisomy 7p resulting from 7p15 ...... ociated medical complications.

@en

P2093

Haddad BR

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Kozma C

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Meck JM

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P2860

Mutation of HOXA13 in hand-foot-genital syndrome

Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

Molecular and cytogenetic characterization of 9p- abnormalities.

Emerging phenotype of duplication (7p): a report of three cases and review of the literature.

Trisomy 7p resulting from isochromosome formation and whole-arm translocation.

Molecular genetics of craniosynostotic syndromes.

De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).

P304

286-290

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scholarly article

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10.1002/(SICI)1096-8628(20000410)91:4<286::AID-AJMG9>3.0.CO;2-2

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4

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91

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2000-04-01T00:00:00Z

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10766985

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