Lista de obras -

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

artículo científico publicado en 2017

A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth

artículo científico publicado en 2018

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

artículo científico publicado en 2016

Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

artículo científico publicado en 2020

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

artículo científico publicado en 2016

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

artículo científico publicado en 2014

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

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

artículo científico publicado en 2016

Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib

artículo científico publicado en 2015

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

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

scientific article published on 01 June 2018

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 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

Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.

artículo científico publicado en 2012

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.

artículo científico publicado en 2016

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

artículo científico publicado en 2017

Lista de obras de

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

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

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

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib

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

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

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

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

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

Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.