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Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes ⬇️

artículo científico publicado el 11 de noviembre de 2010

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia

artículo científico publicado en 2020

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.

artículo científico publicado en 2015

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

artículo científico publicado en 2017

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome

artículo científico publicado en 2020

Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2

artículo científico publicado en 2020

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

scientific article published on 21 September 2018

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

artículo científico publicado en 2008

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

artículo científico publicado en 2013

Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.

artículo científico publicado en 2008

Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: Report of a case ⬇️

artículo científico publicado el 1 de mayo de 2011

Placental hypoplasia in maternal uniparental disomy for chromosome 7

artículo científico publicado en 2008

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

artículo científico publicado en 2007

Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome

scientific article published on 11 December 2017

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