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Lista de obras de Yoshinori Tsurusaki

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

artículo científico publicado en 2014

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

artículo científico publicado en 2012

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation

artículo científico publicado en 2015

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

artículo científico publicado en 2014

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

artículo científico publicado en 2015

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.

artículo científico publicado en 2014

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

artículo científico publicado en 2013

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

artículo científico publicado en 2011

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

artículo científico publicado en 2012

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12

artículo científico publicado en 2019

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

artículo científico publicado en 2014

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

artículo científico publicado en 2011

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

artículo científico publicado en 2013

A novel PITX2 mutation causing iris hypoplasia

artículo científico publicado en 2014

A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

artículo científico publicado en 2018

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

artículo científico publicado en 2017

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

scientific article published on 11 April 2019

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

artículo científico publicado en 2014

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

scientific article published on 01 September 2011

A novelSCARB2mutation causing late-onset progressive myoclonus epilepsy

artículo científico publicado en 2013

A novelWTXmutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

scientific article published on 23 January 2014

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

artículo científico publicado en 2019

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.

artículo científico publicado en 2013

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

artículo científico publicado en 2013

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

artículo científico publicado en 2017

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

article

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

artículo científico publicado en 2014

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

scientific journal article

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

scientific journal article

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

artículo científico publicado en 2018

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

artículo científico publicado en 2010

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

artículo científico publicado en 2012

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability

artículo científico publicado en 2018

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

artículo científico publicado en 2014

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

artículo científico publicado en 2018

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

article

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

artículo científico publicado en 2016

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

artículo científico publicado en 2013

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

artículo científico publicado en 2013

Co-occurrence of 22q11 deletion syndrome and hdr syndrome

artículo científico publicado en 2013

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

artículo científico publicado en 2017

Coffin-Siris syndrome is a SWI/SNF complex disorder

artículo científico publicado en 2013

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

artículo científico publicado en 2014

DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.

artículo científico publicado en 2015

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

artículo científico publicado en 2013

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis

artículo científico publicado en 2011

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

scientific article published on 11 October 2011

De novo DNM1 mutations in two cases of epileptic encephalopathy

artículo científico publicado en 2015

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

artículo científico publicado en 2014

De novo GABRA1 mutations in Ohtahara and West syndromes

artículo científico publicado en 2016

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

artículo científico publicado en 2015

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

artículo científico publicado en 2016

De novo KCNT1 mutations in early-onset epileptic encephalopathy

artículo científico publicado en 2015

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

artículo científico publicado en 2015

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

artículo científico publicado en 2016

De novo SOX11 mutations cause Coffin-Siris syndrome

artículo científico publicado en 2014

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

artículo científico publicado en 2014

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

artículo científico publicado en 2011

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

artículo científico publicado en 2010

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

artículo científico publicado en 2018

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

artículo científico publicado en 2013

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

artículo científico publicado en 2013

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

Decrease in regucalcin level and enhancement of protein tyrosine phosphatase activity in rat brain microsomes with increasing age.

artículo científico publicado en 2003

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

article published in 2014

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

artículo científico publicado en 2015

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

article

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

artículo científico publicado en 2015

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing

artículo científico publicado en 2015

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

artículo científico publicado en 2013

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

artículo científico publicado en 2016

Discordant phenotype caused by mutation in siblings with

artículo científico publicado en 2019

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

artículo científico publicado en 2015

Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series

artículo científico publicado en 2014

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

artículo científico publicado en 2011

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

artículo científico publicado en 2014

Enhancement of albumin expression in bone tissues with healing rat fractures

artículo científico publicado en 2003

Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

artículo científico publicado en 2016

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

artículo científico publicado en 2013

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

artículo científico publicado en 2012

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

artículo científico publicado en 2011

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

artículo científico publicado en 2011

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.

artículo científico publicado en 2011

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

artículo científico publicado en 2014

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan

artículo científico publicado en 2015

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

artículo científico publicado en 2015

Growth inhibition of cultured human liver carcinoma cells by Ki-energy (life-energy): scientific evidence for Ki-effects on cancer cells

artículo científico publicado en 2005

Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia

scientific article published on 03 June 2019

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

artículo científico publicado en 2012

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome

artículo científico publicado en 2015

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome

artículo científico publicado en 2018

Human genetic variation database, a reference database of genetic variations in the Japanese population

artículo científico publicado en 2016

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia

artículo científico publicado en 2013

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

artículo científico publicado en 2018

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation inSGCE

artículo científico publicado en 2015

KDM6A point mutations cause Kabuki syndrome

artículo científico publicado en 2013

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

artículo científico publicado en 2014

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

artículo científico publicado en 2010

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

artículo científico publicado en 2016

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

artículo científico publicado en 2012

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

artículo científico publicado en 2013

Molecular genetic analysis of 30 families with Joubert syndrome

artículo científico publicado en 2016

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

artículo científico publicado en 2012

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

artículo científico publicado en 2013

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

artículo científico publicado en 2014

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

artículo científico publicado en 2013

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

artículo científico publicado en 2011

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

artículo científico publicado en 2015

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

artículo científico publicado en 2014

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

artículo científico publicado en 2018

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

artículo científico publicado en 2017

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

artículo científico publicado en 2018

Novel FIG4 mutations in Yunis–Varon syndrome

artículo científico publicado en 2013

Novel USP9X variants in two patients with X-linked intellectual disability

artículo científico publicado en 2019

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

artículo científico publicado en 2015

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

artículo científico publicado en 2014

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

artículo científico publicado en 2015

Numerous BAF complex genes are mutated in Coffin-Siris syndrome

artículo científico publicado en 2014

Overexpression of regucalcin modulates tumor-related gene expression in cloned rat hepatoma H4-II-E cells.

artículo científico publicado en 2003

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

artículo científico publicado en 2014

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

artículo científico publicado en 2013

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

artículo científico publicado en 2014

Paternal mosaicism of an STXBP1 mutation in OS

artículo científico publicado en 2010

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

artículo científico publicado en 2013

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

scientific article published on 13 June 2019

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder

artículo científico publicado en 2013

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

artículo científico publicado en 2013

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

artículo científico publicado en 2015

Potential role of regucalcin as a specific biochemical marker of chronic liver injury with carbon tetrachloride administration in rats

artículo científico publicado en 2002

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

scientific article published on 09 October 2014

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

artículo científico publicado en 2018

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

artículo científico publicado en 2011

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

article

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

artículo científico publicado en 2018

Role of endogenous regucalcin in the regulation of Ca(2+)-ATPase activity in rat liver nuclei

scientific journal article

Role of endogenous regucalcin in transgenic rats: suppression of kidney cortex cytosolic protein phosphatase activity and enhancement of heart muscle microsomal Ca2+-ATPase activity

artículo científico publicado en 2002

Role of endogenous regucalcin in transgenic rats: suppression of protein tyrosine phosphatase and ribonucleic acid synthesis activities in liver nucleus.

artículo científico publicado en 2003

Role of regucalcin in liver nuclear function: binding of regucalcin to nuclear protein or DNA and modulation of tumor-related gene expression.

artículo científico publicado en 2004

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

artículo científico publicado en 2016

SMOC1 is essential for ocular and limb development in humans and mice

artículo científico publicado en 2011

Severe manifestations of hand-foot-genital syndrome associated with a novelHOXA13mutation

scientific article published on 16 June 2014

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

artículo científico publicado en 2015

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

artículo científico publicado en 2016

Suppressive effect of endogenous regucalcin on guanosine triphosphatase activity in rat liver nucleus

scientific journal article

Suppressive effect of endogenous regucalcin on nitric oxide synthase activity in cloned rat hepatoma H4-II-E cells overexpressing regucalcin

artículo científico publicado en 2003

Suppressive effect of endogenous regucalcin on the enhancement of protein synthesis and aminoacyl-tRNA synthetase activity in regenerating rat liver

scientific article published on 01 September 2000

Suppressive effect of regucalcin on protein phosphatase activity in the heart cytosol of normal and regucalcin transgenic rats

artículo científico publicado en 2004

Suppressive role of endogenous regucalcin in the enhancement of deoxyribonucleic acid synthesis activity in the nucleus of regenerating rat liver

artículo científico publicado en 2002

Suppressive role of endogenous regucalcin in the enhancement of nitric oxide synthase activity in liver cytosol of normal and regucalcin transgenic rats

artículo científico publicado en 2003

TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia.

artículo científico publicado en 2016

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

artículo científico publicado en 2013

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

artículo científico publicado en 2012

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

artículo científico publicado en 2015

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

artículo científico publicado en 2016

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

artículo científico publicado en 2014

Translocation of regucalcin to rat liver nucleus: involvement of nuclear protein kinase and protein phosphatase regulation

scientific article published on 01 December 2000

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

artículo científico publicado en 2015

Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon

scientific article published on 20 February 2019

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

artículo científico publicado en 2015

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2014

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

scientific article published on 01 August 2012

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

artículo científico publicado en 2013

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.

artículo científico publicado en 2015

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

Whole-exome sequencing reveals the subclonal expression of NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia

artículo científico publicado en 2019

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