Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Item
http://www.wikidata.org/entity/Q37964406
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.Syndromal obesity due to paternal duplication 6(q24.3-q27).Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.Aetiopathology and genetic basis of neonatal diabetes.Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?Multilocus methylation defects in imprinting disorders.Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3).Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.Duplication 6q22-->qter: definition of the phenotype.Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6.[Neonatal diabetes mellitus].Duplication 6q21q23 in two unrelated patients.Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.
P2860

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Item
http://www.wikidata.org/entity/Q37964406
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article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
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artikull shkencor
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artículo científico
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Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@en
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@nl
type
label
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@en
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@nl
prefLabel
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@en
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932