about
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted regionDynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriersRelative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.Perturbations to the IGF1 growth pathway and adult energy homeostasis following disruption of mouse chromosome 12 imprinting.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.Uniparental disomy and prenatal phenotype: Two case reports and review.Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Uniparental disomies 7 and 14.
@en
Uniparental disomies 7 and 14.
@nl
type
label
Uniparental disomies 7 and 14.
@en
Uniparental disomies 7 and 14.
@nl
prefLabel
Uniparental disomies 7 and 14.
@en
Uniparental disomies 7 and 14.
@nl
P1476
Uniparental disomies 7 and 14.
@en
P2093
Katrin Hoffmann
Raoul Heller
P304
P356
10.1016/J.BEEM.2010.09.004
P577
2011-02-01T00:00:00Z