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

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

artículo científico publicado en 2018

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

artículo científico publicado en 2016

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.

artículo científico publicado en 2018

Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.

artículo científico publicado en 2015

Analysis of the AAAS gene in a Japanese patient with triple A syndrome

scientific article published on 01 February 2002

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

artículo científico publicado en 2012

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

scientific article published on 02 July 2018

Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age.

artículo científico publicado en 2016

Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.

artículo científico publicado en 2015

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

artículo científico publicado en 2004

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

Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

artículo científico publicado en 2015

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome

artículo científico publicado en 2017

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

artículo científico publicado en 2020

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly

artículo científico publicado en 2017

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

artículo científico publicado en 2008

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

artículo científico publicado en 2016

Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report.

artículo científico publicado en 2018

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype

artículo científico publicado en 2008

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 methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome

artículo científico publicado en 2020

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

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.

artículo científico publicado en 2009

Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

artículo científico publicado en 2016

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 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

artículo científico publicado en 2009

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

scientific article published on 01 June 2018

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome

artículo científico publicado en 2017

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

Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14.

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome

artículo científico publicado en 2017

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Placental hypoplasia in maternal uniparental disomy for chromosome 7

artículo científico publicado en 2008

Placentomegaly in paternal uniparental disomy for human chromosome 14

scientific article published on 11 July 2008

Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

artículo científico publicado en 2015

Prenatal findings of paternal uniparental disomy 14: Delineation of further patient

scientific article published on 01 December 2010

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.

artículo científico publicado en 2013

Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

artículo científico publicado en 2015

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

artículo científico publicado en 2011

Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat

artículo científico publicado en 2015

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta

artículo científico publicado en 2008

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature

scientific article published on 31 August 2020

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features

scientific article published on 01 October 2005

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

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

artículo científico publicado en 2016

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

artículo científico publicado en 2014

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation

artículo científico publicado en 2014

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

artículo científico publicado en 2016

Sustained endocrine profiles of a girl with WAGR syndrome

artículo científico publicado en 2017

Target height and target range for Japanese children: revisited

artículo científico publicado en 2007

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

artículo científico publicado en 2018

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

scientific article published on 07 March 2019

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

artículo científico publicado en 2017

Uniparental disomy as a cause of pediatric endocrine disorders

scientific article published on 31 July 2018

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

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.

Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.

Analysis of the AAAS gene in a Japanese patient with triple A syndrome

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

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

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age.

Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

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

Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma

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

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report.

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype

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 methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome

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

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.

Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

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 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

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

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient 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 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.

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

Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14.

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

Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

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

Placental hypoplasia in maternal uniparental disomy for chromosome 7

Placentomegaly in paternal uniparental disomy for human chromosome 14

Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

Prenatal findings of paternal uniparental disomy 14: Delineation of further patient

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.

Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features

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

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

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

Sustained endocrine profiles of a girl with WAGR syndrome

Target height and target range for Japanese children: revisited

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

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

Uniparental disomy as a cause of pediatric endocrine disorders