A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
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Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolutionSilver-Russell syndrome: genetic basis and molecular genetic testingAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaThe imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndromeSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyThe role and interaction of imprinted genes in human fetal growthThe epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedX-linked thrombocytopenia in a girl.The importance of imprinting in the human placenta.Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotypeMolecular and clinical studies in 138 Japanese patients with Silver-Russell syndromeGlobal analysis of uniparental disomy using high density genotyping arrays.Grb10 and Grb14: enigmatic regulators of insulin action--and more?Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MESTA fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.New developments in Silver-Russell syndrome and implications for clinical practiceGenomic organization and control of the grb7 gene family.Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.Peromyscus (deer mice) as developmental models.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Genetic, metabolic and endocrine aspect of intrauterine growth restriction: an update.First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.Mosaic UPD(7q)mat in a patient with silver Russell syndrome.Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.Maintenance of Mest imprinted methylation in blastocyst-stage mouse embryos is less stable than other imprinted loci following superovulation or embryo culture.Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.
P2860
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P2860
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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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
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2000年论文
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name
A narrow segment of maternal u ...... imits a candidate gene region.
@ast
A narrow segment of maternal u ...... imits a candidate gene region.
@en
A narrow segment of maternal u ...... imits a candidate gene region.
@nl
type
label
A narrow segment of maternal u ...... imits a candidate gene region.
@ast
A narrow segment of maternal u ...... imits a candidate gene region.
@en
A narrow segment of maternal u ...... imits a candidate gene region.
@nl
prefLabel
A narrow segment of maternal u ...... imits a candidate gene region.
@ast
A narrow segment of maternal u ...... imits a candidate gene region.
@en
A narrow segment of maternal u ...... imits a candidate gene region.
@nl
P2093
P2860
P356
P1476
A narrow segment of maternal u ...... imits a candidate gene region.
@en
P2093
Kontiokari T
Lipsanen-Nyman M
P2860
P304
P356
10.1086/316937
P407
P50
P577
2000-12-08T00:00:00Z