Lista de obras - Maki Fukami - Dominio Público Uruguay

(Epi)genetic defects of are rare in Asian patients with central precocious puberty

article

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

artículo científico publicado en 2017

A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

scientific article published on 06 May 2019

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

artículo científico publicado en 2018

A case report and literature review of monoallelic mutation of GHR

artículo científico publicado en 2019

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

artículo científico publicado en 2018

A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes

artículo científico publicado en 2019

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.

artículo científico publicado en 2018

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

scientific article published on 09 September 2020

Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool

scientific article published on 01 September 2019

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

artículo científico publicado en 2016

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

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 and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

artículo científico publicado en 2019

Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y

scientific article published on 02 March 2020

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

artículo científico publicado en 2019

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

artículo científico publicado en 2017

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

scientific article published on 23 October 2019

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

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

artículo científico publicado en 2018

Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.

artículo científico publicado en 2017

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

Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

artículo científico publicado en 2021

KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes

scientific article published on 03 June 2019

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

scientific article published on 16 October 2020

Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility.

artículo científico publicado en 2017

Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome

article

Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes

scientific article published on 23 December 2019

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

scientific article published on 01 June 2018

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

artículo científico publicado en 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

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

artículo científico publicado en 2008

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.

artículo científico publicado en 2017

Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations

artículo científico publicado en 2017

Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty

artículo científico publicado en 2017

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.

artículo científico publicado en 2017

Random X chromosome inactivation in patients with Klinefelter syndrome

scientific article published on 24 January 2020

SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis

artículo científico publicado en 2019

SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins

artículo científico publicado en 2020

STX2 is a causative gene for nonobstructive azoospermia.

artículo científico publicado en 2018

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

scientific article published on 31 August 2020

Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation

scientific article published on 01 February 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.

artículo científico publicado en 2019

Lista de obras de Maki Fukami

(Epi)genetic defects of are rare in Asian patients with central precocious puberty

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

A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

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

A case report and literature review of monoallelic mutation of GHR

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

A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool

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

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

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 and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

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

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

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.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.

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

Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility.

Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome

Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes

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

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

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

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

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.

Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations

Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty

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

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

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

Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.

Random X chromosome inactivation in patients with Klinefelter syndrome

SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis

SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins

STX2 is a causative gene for nonobstructive azoospermia.

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

Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation

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

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

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

Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.