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Lista de obras de Shinji Saitoh

A BsaBl RFLP detected for probe pML34 [D15S9] on chromosome 15q ⬇️

artículo científico publicado el 11 de septiembre de 1991

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

artículo científico publicado en 2012

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy

artículo científico publicado en 2019

A case of tricuspid atresia with Prader-Willi syndrome

artículo científico publicado en 2020

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

artículo científico publicado en 2017

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

artículo científico publicado en 2015

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

artículo científico publicado en 1994

A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

artículo científico publicado en 2017

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

artículo científico publicado en 2007

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome

artículo científico publicado en 2011

A model system to study genomic imprinting of human genes

artículo científico publicado en 1998

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease

artículo científico publicado en 2006

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

artículo científico publicado en 2019

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)

article

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

artículo científico publicado en 2017

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.

artículo científico publicado en 2001

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

artículo científico publicado en 2017

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

artículo científico publicado en 2020

A novel splicing mutation in in a boy with Christianson syndrome

scientific article published on 25 March 2019

A novel splicing mutation of the ATRX gene in ATR-X syndrome

artículo científico publicado en 2006

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

artículo científico publicado en 2018

A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype

artículo científico publicado en 2005

Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome

artículo científico publicado en 2007

Acute encephalopathy in children with Dravet syndrome.

artículo científico publicado en 2011

Adult Leigh disease without failure to thrive.

artículo científico publicado en 2011

Advantageous information provided by magnetoencephalography for patients with neocortical epilepsy

artículo científico publicado en 2014

Adverse pregnancy and perinatal outcome in patients with recurrent pregnancy loss: Multiple imputation analyses with propensity score adjustment applied to a large-scale birth cohort of the Japan Environment and Children's Study

scientific article published on 13 December 2018

An epileptic disease with genomic imprinting disorder: Angelman syndrome

An imprinted, mammalian bicistronic transcript encodes two independent proteins

artículo científico publicado en 1999

An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.

artículo científico publicado en 2005

Angelman syndrome caused by an identical familial 1,487-kb deletion

artículo científico publicado en 2007

Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities

artículo científico publicado en 1992

Antiviral therapy for hepatitis B virus during second pregnancies

artículo científico publicado en 2017

Application of Magnetoencephalography in Epilepsy Patients with Widespread Spike or Slow-wave Activity

artículo científico publicado en 2005

Association between Prenatal Exposure to Household Pesticides and Neonatal Weight and Length Growth in the Japan Environment and Children's Study

artículo científico publicado en 2020

Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population

scientific article published on 01 July 2018

Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate

artículo científico publicado en 2019

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

artículo científico publicado en 2017

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

artículo científico publicado en 1996

CTCFdeletion syndrome: clinical features and epigenetic delineation

artículo científico publicado en 2017

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

artículo científico publicado en 2003

Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course

artículo científico publicado en 2012

Clinical and neuroimaging findings in children with posterior reversible encephalopathy syndrome

artículo científico publicado en 2015

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

artículo científico publicado en 2010

Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation

artículo científico publicado en 1999

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

article

Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.

artículo científico publicado en 2018

Cohort profile: Aichi regional sub-cohort of the Japan Environment and Children's Study (JECS-A)

artículo científico publicado en 2019

Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation

artículo científico publicado en 2013

Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.

artículo científico publicado en 2017

Comparison of three methods for localizing interictal epileptiform discharges with magnetoencephalography.

artículo científico publicado en 2011

Concordance of DSM-5 and DSM-IV-TR classifications for autism spectrum disorder.

artículo científico publicado en 2015

Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7

artículo científico publicado en 2019

DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader-Willi syndrome and a mouse model

article

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

artículo científico publicado en 2020

Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome

artículo científico publicado en 2012

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

artículo científico publicado en 2017

Delayed recognition of childhood arterial ischemic stroke

scientific article published on 01 September 2019

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening

artículo científico publicado en 2017

Diclofenac enhances proinflammatory cytokine-induced aquaporin-4 expression in cultured astrocyte

artículo científico publicado en 2013

Diclofenac enhances proinflammatory cytokine-induced phagocytosis of cultured microglia via nitric oxide production

artículo científico publicado en 2013

Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndrome.

artículo científico publicado en 2015

Direct correlation between the facial nerve nucleus and hemifacial seizures associated with a gangliocytoma of the floor of the fourth ventricle: A case report

article by Kazuyori Yagyu et al published 2 November 2011 in Epilepsia

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

scientific article published on 08 May 2018

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

artículo científico publicado en 2010

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family.

artículo científico publicado en 2008

Early-onset absence epilepsy at eight months of age.

artículo científico publicado en 2011

Effect of Japanese cedar specific immunotherapy on allergen-specific T(H)2 cells in peripheral blood

artículo científico publicado en 2013

Effect of Japanese cedar-specific sublingual immunotherapy on allergen-specific TH2 cell counts in blood.

artículo científico publicado en 2016

Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis

Effects of long working hours and shift work during pregnancy on obstetric and perinatal outcomes: A large prospective cohort study-Japan Environment and Children's Study

scientific article published on 31 October 2019

Effects of tolvaptan on congestive heart failure complicated with chylothorax in a neonate

article

Endometriosis and Recurrent Pregnancy Loss as New Risk Factors for Venous Thromboembolism during Pregnancy and Post-Partum: The JECS Birth Cohort

scientific article published on 05 February 2019

Enhancement of neuroblast migration into the injured cerebral cortex using laminin-containing porous sponge

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations

artículo científico publicado en 2014

Estimation of elevated intracranial pressure in infants with hydroce-phalus by using transcranial Doppler velocimetry with fontanel compression

scientific article published in Scientific Reports

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

artículo científico publicado en 1992

Feeding-induced cortisol response in newborn infants

scientific article published on 01 December 2018

Food sensitization in Japanese infants is associated with a common Filaggrin variant

artículo científico publicado en 2013

Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions

artículo científico publicado en 2013

GABAergic dysfunction in Ube3a deficient mice, models of Angelman syndrome

Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

artículo científico publicado en 2011

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

Germline mosaicism of a novelUBE3A mutation in Angelman syndrome

Good death for children with cancer: a qualitative study

artículo científico publicado en 2015

Growth factors released from gelatin hydrogel microspheres increase new neurons in the adult mouse brain.

artículo científico publicado en 2012

Hand-foot-genital syndrome with a 7p15 deletion: Clinically recognizable syndrome

article by Kana Hosoki et al published 28 May 2012 in Pediatrics International

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

artículo científico publicado en 2014

IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.

artículo científico publicado en 2018

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

artículo científico publicado en 2016

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

artículo científico publicado en 1996

Imprinting in Prader-Willi and Angelman syndromes

artículo científico publicado en 1998

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome

artículo científico publicado en 2013

Inflammatory changes in infantile-onset LMNA-associated myopathy

Inflammatory cytokine tumor necrosis factor α suppresses neuroprotective endogenous erythropoietin from astrocytes mediated by hypoxia-inducible factor-2α.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Intrauterine growth and the maturation process of adrenal function

artículo científico publicado en 2019

KIF1A mutation in a patient with progressive neurodegeneration

artículo científico publicado en 2014

Long-term sequential magnetoencephalographic analyses for patients with atypical benign partial epilepsy in childhood

MEG time-frequency analyses for pre- and post-surgical evaluation of patients with epileptic rhythmic fast activity

artículo científico publicado en 2009

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes

artículo científico publicado en 2010

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

scientific article published on 20 December 2018

Macitentan reverses early obstructive pulmonary vasculopathy in rats: early intervention in overcoming the survivin-mediated resistance to apoptosis.

artículo científico publicado en 2014

Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasms

Magnetoencephalography localizing spike sources of atypical benign partial epilepsy

artículo científico publicado en 2013

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

artículo científico publicado en 2009

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

artículo científico publicado en 1996

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

artículo científico publicado en 2016

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

Molecular genetic analysis of 30 families with Joubert syndrome

artículo científico publicado en 2016

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2017

Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy

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

artículo científico publicado en 2014

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2009

Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.

artículo científico publicado en 2005

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.

artículo científico publicado en 2015

Novel MCA/ID syndrome with ASH1L mutation

artículo científico publicado en 2017

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

artículo científico publicado en 2016

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome

article

Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome.

artículo científico publicado en 2000

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

artículo científico publicado en 2010

Perinatal management of neonatal alloimmune thrombocytopenia associated with anti-group A antibody

artículo científico publicado en 2015

Peripartum depression and infant care, sleep and growth

scientific article published on 15 July 2019

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.

artículo científico publicado en 2017

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

artículo científico publicado en 2018

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

artículo científico publicado en 2013

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation

artículo científico publicado en 1998

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis

artículo científico publicado en 2015

Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome

artículo científico publicado en 2007

Predominant area of brain lesions in neonates with herpes simplex encephalitis

artículo científico publicado en 2017

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome

artículo científico publicado en 2013

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

artículo científico publicado en 2015

Probability curves focusing on symptom severity during an oral food challenge

artículo científico publicado en 2014

Probability curves for predicting symptom severity during an oral food challenge with wheat

artículo científico publicado en 2017

Probability curves for predicting symptom severity during oral food challenge with milk

artículo científico publicado en 2015

Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis

artículo científico publicado en 2018

Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury.

artículo científico publicado en 2017

Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract

scholarly article by Hironori Ohshita et al published August 2018 in Journal of Pediatric Hematology/Oncology

Respiratory illness and acute flaccid myelitis in the Tokai district in 2018

artículo científico publicado en 2020

Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability

artículo científico publicado en 2016

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

artículo científico publicado en 2016

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

scientific article published on 02 December 2019

Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion

artículo científico publicado en 2015

Siblings with optic neuropathy and RTN4IP1 mutation

artículo científico publicado en 2017

Single nucleotide polymorphisms inAGTR1,TFAP2B, andTRAF1are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants

Successful alternative treatment containing vindesine for acute lymphoblastic leukemia with Charcot-Marie-Tooth disease

artículo científico publicado en 2012

Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition

artículo científico publicado en 2011

Survival of fetuses with severe oligohydramnios

artículo científico publicado en 2016

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

artículo científico publicado en 2015

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusion

artículo científico publicado en 2014

The applications of time-frequency analyses to ictal magnetoencephalography in neocortical epilepsy

artículo científico publicado en 2010

The identification of two pathogenic variants in a family with mild and severe forms of developmental delay

artículo científico publicado en 2020

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome

Treatment Strategy for Pediatric Paratesticular Rhabdomyosarcoma Based on Chimeric Gene Assessment

artículo científico publicado en 2016

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

artículo científico publicado en 2005

Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)

Vaccine-associated paralytic poliomyelitis in a non-immunocompromised infant

scholarly article by Naoko Asahina et al published 29 September 2010 in Pediatrics International

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization

artículo científico publicado en 2012

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia

artículo científico publicado en 2002

[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome

artículo científico publicado en 2007

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