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List of works by Takao Takahashi

12q14 microdeletion syndrome and short stature with or without relative macrocephaly ⬇️

scientific article published on August 10, 2012

1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

scientific article published on 25 November 2013

A Pediatric Case of Antibiotic-Associated Hemorrhagic Colitis Caused by Klebsiella Oxytoca

scientific article published on 17 September 2014

A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures

scientific article published on 01 January 2017

A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam

scientific article published in December 2004

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

scientific article published on 04 June 2018

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

scientific article published on 01 September 2004

Acquisition of G₀ state by CD34-positive cord blood cells after bone marrow transplantation

scientific article published on 26 August 2010

Activity-dependent regulation of HCN1 protein in cortical neurons

scientific article

Adverse effects of prenatal and early postnatal exposure to antiepileptic drugs: Validation from clinical and basic researches

scientific article

Age‐dependent change in behavioral feature in Rubinstein‐Taybi syndrome ⬇️

scientific article published on June 1, 2012

Altered patterns of neuron production in the p27 knockout mouse

scientific article published in March 2004

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

scientific article published on 01 April 2007

An Interleukin-33-Mast Cell-Interleukin-2 Axis Suppresses Papain-Induced Allergic Inflammation by Promoting Regulatory T Cell Numbers.

scientific article

Antigen-specific T-cell responses in patients with non–IgE-mediated gastrointestinal food allergy are predominantly skewed to TH2

article

Antihistamine effects on prefrontal cortex activity during working memory process in preschool children: a near-infrared spectroscopy (NIRS) study

scientific article published on 4 February 2010

Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism

scientific article published on 06 June 2009

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

scientific article published on 23 November 2017

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval ⬇️

scientific article published on 03 August 2011

CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.

scientific article published on 28 November 2017

Case report: Adult phenotype of Mulvihill-Smith syndrome

scientific article published in March 2009

Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1 ⬇️

scientific article published on August 16, 2012

Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association

scientific article published in June 2009

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

scientific journal article

Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome

scientific article published on 21 December 2016

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

scientific article published on January 2002

Childhood Sjögren syndrome presenting as acute brainstem encephalitis

scientific article published on 22 May 2015

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

scientific article published on 01 February 2006

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

scientific article published in November 2014

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

scientific article

Colocolic intussusception associated with pneumatosis cystoides intestinalis after cord blood stem cell transplantation.

scientific article

Complete mutation analysis panel of the 39 human HOX genes

scientific article (publication date: February 2002)

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

scientific article

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography

scientific article published in January 2005

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis ⬇️

scientific article published on October 26, 2012

Congenital corneal staphyloma as a complication of Kabuki syndrome ⬇️

scientific article published on July 11, 2012

Cryptococcal meningitis in an immunocompetent child

scientific article published on 15 June 2005

Daytime somnolence in an adult with Smith-Magenis syndrome

scientific article published on 17 May 2013

Deficiency of BLNK hampers PLC-gamma2 phosphorylation and Ca2+ influx induced by the pre-B-cell receptor in human pre-B cells.

scientific article published on August 2004

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

scientific article

Differences in voriconazole trough plasma concentrations per oral dosages between children younger and older than 3 years of age.

scientific article published in July 2010

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism

scientific article published on 01 June 2006

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

scientific article

Effect of mother's voice on neonatal respiratory activity and EEG delta amplitude

scientific article published on 4 December 2017

Effect of post-exposure prophylaxis with oseltamivir for those in contacts with influenza patients in pediatric wards

scientific article published in March 2004

Effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation.

scientific article published on 16 October 2008

Effectiveness of Trivalent Inactivated Influenza Vaccine in Children Estimated by a Test-Negative Case-Control Design Study Based on Influenza Rapid Diagnostic Test Results

scientific article published on 28 August 2015

Effectiveness of inactivated influenza vaccine in children by vaccine dose, 2013-18

scientific article published on 08 June 2019

Effectiveness of inactivated quadrivalent influenza vaccine in the 2015/2016 season as assessed in both a test-negative case-control study design and a traditional case-control study design.

scientific article published on 21 April 2018

Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma

scientific article published in February 2006

Effects of sedative and nonsedative antihistamines on prefrontal activity during verbal fluency task in young children: a near-infrared spectroscopy (NIRS) study

scientific article published on 25 August 2009

Efficacy and immunologic responses to influenza vaccine in HIV-1-infected patients

scientific article published in June 2005

Efficacy, Safety, and Pharmacokinetics of Intravenous Peramivir in Children with 2009 Pandemic H1N1 Influenza A Virus Infection ⬇️

scientific article published on October 24, 2011

Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates

scientific article

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

scientific article published in January 2007

Eosinophilic cystitis presented as a manifestation of hypereosinophilic syndrome: a case report and review of the literature

scientific article published on January 2013

Establishment of a novel childhood acute myeloid leukaemia cell line, KOPM-88, containing partial tandem duplication of the MLL gene and an in vivo model for childhood acute myeloid leukaemia using NOD/SCID mice

scientific article published on May 2007

Functional Hemispheric Specialization in Processing Phonemic and Prosodic Auditory Changes in Neonates ⬇️

scientific article published on September 15, 2011

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder

scientific article published on 11 September 2018

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

scientific article

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

scientific article

Gene Knock-Outs of Inositol 1,4,5-Trisphosphate Receptors Types 1 and 2 Result in Perturbation of Cardiogenesis ⬇️

scientific article published on September 1, 2010

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

scientific article published on 13 April 2012

Genetic regulation of proliferation/differentiation characteristics of neural progenitor cells in the developing neocortex

scientific article published on 22 May 2009

Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches

scientific article published on September 2006

Growth-chart-based qualitative evaluation of height growth after hematopoietic stem cell transplantation

scientific article published in February 2006

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

scientific article published on 11 August 2016

Histopathological and behavioral improvement of murine mucopolysaccharidosis type VII by intracerebral transplantation of neural stem cells

scientific article published on 28 November 2005

Hydrocephalus with Hirschsprung disease: Severe end of X‐linked hydrocephalus spectrum ⬇️

scientific article published on February 21, 2012

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13

scientific article published on 01 September 2004

Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report

scientific article published on 19 April 2012

Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway.

scientific article

IL-25 and IL-33 Contribute to Development of Eosinophilic Airway Inflammation in Epicutaneously Antigen-Sensitized Mice

scientific article published on 31 July 2015

Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo

scientific article published in June 2007

In Utero Exposure to Valproic Acid Induces Neocortical Dysgenesis via Dysregulation of Neural Progenitor Cell Proliferation/Differentiation.

scientific article

In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1

scientific article

Inactivated influenza vaccine effectiveness and an analysis of repeated vaccination for children during the 2016/17 season

scientific article published on 06 August 2018

Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma

scientific article published in May 2008

Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development

scientific article published on 20 November 2019

Inositol 1,4,5-trisphosphate receptors are essential for the development of the second heart field ⬇️

scientific article published on 05 March 2011

Interleukin-7 contributes to human pro-B-cell development in a mouse stromal cell-dependent culture system

scientific article published on 25 July 2007

Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

scientific article published in April 2010

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes.

scientific article

Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes

scientific article

Involvement of insulin-like growth factor-I and insulin-like growth factor binding proteins in pro-B-cell development

scientific article published on April 2006

Iridic and retinal coloboma associated with prenatal methimazole exposure

scientific article published on 01 December 2005

Is that cranial deformity really due to sleeping position?

Klebsiella oxytoca-positive, penicillin-associated hemorrhagic enterocolitis in children

scientific article published on 01 February 2010

Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB

scientific article published on 01 December 2004

Large-Area Fluorescence and Electron Microscopic Correlative Imaging With Multibeam Scanning Electron Microscopy

Maternal speech shapes the cerebral frontotemporal network in neonates: A hemodynamic functional connectivity study

scientific article published on 08 August 2019

Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin

scientific article published on 01 August 2010

Microdeletion of the Down syndrome critical region at 21q22.

scientific article published in April 2010

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting ⬇️

scientific article published on August 10, 2012

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

scientific article published on July 2003

Molecular pathology of Shprintzen-Goldberg syndrome

scholarly article by Kenjiro Kosaki et al published 1 January 2006 in American Journal of Medical Genetics

Multiple café au lait spots in familial patients with MAP2K2 mutation.

scientific article

Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

scientific article published in December 2004

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements

scientific article published on January 2007

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype

scientific article published in August 2008

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

scientific article published on 29 May 2019

Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis

scientific article

Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome

scientific article

Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1

scientific article published on 05 April 2013

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

scientific article published in March 2006

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation

scientific article published on 25 November 2014

Position-specific expression of Hox genes along the gastrointestinal tract

scientific article published in March 2004

Posterior cerebral artery dissection on a serial magnetic resonance angiography ⬇️

scientific article published on July 20, 2011

Postexposure Prophylaxis for Influenza in Pediatric Wards Oseltamivir or Zanamivir After Rapid Antigen Detection ⬇️

scientific article published on 01 November 2012

Proliferation and differentiation characteristics of neural stem cells during course of cerebral cortical histogenesis

scientific article published on 08 June 2015

Psychosomatic disorders in children: an emerging challenge to health care in Japan

scientific article published on 01 April 2002

Randomized controlled trial of oral immunotherapy for egg allergy in Japanese patients.

scientific article published on 31 January 2017

Recent trends in pediatric bacterial meningitis in Japan, 2016-2018 - S. agalactiae has been the most common pathogen

scientific article published on 13 June 2020

Recent trends in pediatric bacterial meningitis in Japan--a country where Haemophilus influenzae type b and Streptococcus pneumoniae conjugated vaccines have just been introduced

scientific article published on 21 May 2014

Reconstitution activity of hypoxic cultured human cord blood CD34-positive cells in NOG mice

scientific article published on 24 November 2008

Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring

scientific article

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut

scientific article published on 19 July 2017

Reversible Diffuse White Matter Lesion in Alagille Syndrome ⬇️

scientific article published on July 1, 2011

SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype

scientific article published on 3 April 2014

ST2 Requires Th2-, but Not Th17-, Type Airway Inflammation in Epicutaneously Antigen-Sensitized Mice ⬇️

scientific article published on February 25, 2012

Safety and efficacy of linezolid in 16 infants and children in Japan ⬇️

scientific article published on March 31, 2012

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

scientific article

Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.

scientific article published in January 2006

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography

scientific article published in January 2006

Sedation protocol with fasting and shorter sleep leads to magnetic resonance imaging success

scientific article published on 21 July 2017

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

scientific article

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways

article

Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure.

scientific article published on 17 May 2013

Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation

scientific article published on 01 October 2008

Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome

scientific article published on 11 December 2017

Spousal choice by height in an urban middle-class Japanese population

scientific article published in August 2013

Successful discontinuation of immunoglobulin G replacement at age 10 in a patient with immunoglobulin G2 deficiency

scientific article published on 11 October 2017

Symbolic time series analysis of fNIRS signals in brain development assessment

scientific article published on 12 September 2018

The RNA-binding protein HuD regulates neuronal cell identity and maturation.

scientific article

The cerebral hemodynamic response to phonetic changes of speech in preterm and term infants: The impact of postmenstrual age.

scientific article

The cross-sectional head circumference growth curves for Japanese from birth to 18 years of age: the 1990 and 1992-1994 national survey data

scientific article

Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia

scientific article

Three-season effectiveness of inactivated influenza vaccine in preventing influenza illness and hospitalization in children in Japan, 2013-2016.

scientific article published on 17 January 2018

Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche.

scientific article

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

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption

scientific article published on 01 April 2010

Trivalent inactivated influenza vaccine effective against influenza A(H3N2) variant viruses in children during the 2014/15 season, Japan

scientific article published on October 2016

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family

scientific article published on 01 February 2009

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

scientific article published in December 2007

Type 2 inositol 1,4,5-trisphosphate receptor inhibits the progression of pulmonary arterial hypertension via calcium signaling and apoptosis

scientific article published on 20 November 2018

Updated data on effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation

scientific article published on 13 December 2014

Upper airway obstruction in neonates and infants with CHARGE syndrome

scientific article published on 01 August 2007

Very low pandemic influenza A (H1N1) 2009 mortality associated with early neuraminidase inhibitor treatment in Japan: Analysis of 1000 hospitalized children ⬇️

scientific article published on June 22, 2011

[Neocortical histogenesis and intractable epilepsy].

scientific article

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