Lista de obras -

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

Clinical and molecular characteristics of fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in gene fusion

article

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

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

artículo científico publicado en 2016

Identification of G-quadruplex clusters by high-throughput sequencing of whole-genome amplified products with a G-quadruplex ligand

artículo científico publicado en 2018

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

artículo científico publicado en 2019

Identification of independent risk loci for Graves' disease within the MHC in the Japanese population

artículo científico publicado en 2011

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

publication published on 26 September 2021

Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing

artículo científico publicado en 2021

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

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

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis

artículo científico publicado en 2013

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

artículo científico publicado en 2018

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

artículo científico publicado en 2019

RecurrentRARBTranslocations in Acute Promyelocytic Leukemia LackingRARATranslocation

artículo científico publicado en 2018

Salvage of fetal karyotype information from SNP array data obtained from products of conception with maternal cell contamination

artículo científico publicado en 2017

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis

artículo científico publicado en 2017

Lista de obras de

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?

Clinical and molecular characteristics of fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in gene fusion

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.

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

Identification of G-quadruplex clusters by high-throughput sequencing of whole-genome amplified products with a G-quadruplex ligand

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Identification of independent risk loci for Graves' disease within the MHC in the Japanese population

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing

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

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

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2

RecurrentRARBTranslocations in Acute Promyelocytic Leukemia LackingRARATranslocation

Salvage of fetal karyotype information from SNP array data obtained from products of conception with maternal cell contamination

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis