List of works - Toshiki Takenouchi

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

scientific article published on August 10, 2012

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

scientific article published on 24 September 2019

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

scientific article published on 23 May 2019

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

scientific article published on 18 November 2018

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

scientific article published on 31 December 2020

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

scientific article published on 23 November 2017

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

scientific article published on 15 February 2019

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

scientific article published on 11 September 2019

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

scientific article published on August 16, 2012

Chain of Brain Preservation—A concept to facilitate early identification and initiation of hypothermia to infants at high risk for brain injury ⬇️

scientific article published on December 1, 2010

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis

scientific article published on 27 December 2020

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

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

scientific article published on 05 May 2020

De novo NSF mutations cause early infantile epileptic encephalopathy

scientific article published on 01 November 2019

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

scientific article published on 4 April 2017

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

scientific article published on 26 June 2020

Expansion of the phenotype of Kosaki overgrowth syndrome

scientific article published on 22 June 2017

Germinal Matrix Hemorrhage in Zellweger Syndrome ⬇️

scientific article published on October 15, 2010

Growth pattern of Rahman syndrome

scientific article published on 31 January 2018

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

scientific article published on 05 October 2018

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

scientific article published on February 21, 2012

Hypothermia for neonatal encephalopathy: Nationwide Survey of Clinical Practice in Japan as of August 2010 ⬇️

scientific article published on January 9, 2012

IFT172 as the 19th gene causative of oral-facial-digital syndrome

scientific article published on 06 October 2019

Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta

scientific article published on 11 November 2019

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

scientific article published on 30 September 2020

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

scientific article published on August 10, 2012

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

Novel ARX mutation identified in infantile spasm syndrome patient

scientific article published on 31 March 2020

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

scientific article published on 11 August 2020

Past, present and future of hypothermic neuroprotection for neonatal encephalopathy in Japan: Time to say good-by to the old remedies ⬇️

scientific article published on September 16, 2011

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

scientific article published on 14 March 2019

Posterior cerebral artery dissection on a serial magnetic resonance angiography ⬇️

scientific article published on July 20, 2011

Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome

scientific article published on 31 December 2020

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome

scientific article published on 27 August 2020

Restricted Diffusion in the Corpus Callosum in Hypoxic-Ischemic Encephalopathy ⬇️

scientific article published on September 1, 2010

Reversible Diffuse White Matter Lesion in Alagille Syndrome ⬇️

scientific article published on July 1, 2011

SATB2-associated syndrome in patients from Japan: Linguistic profiles

scientific article published on 07 March 2019

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers

scientific article published on 07 June 2019

Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations

scientific article published on 10 December 2020

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

scientific article published on 15 May 2020

Solitary Fibrous Tumor With Multiple Intracranial and Spinal Lesions: Case Report ⬇️

scientific article published on April 1, 2011

Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells.

scientific article published on 17 April 2018

List of works by Toshiki Takenouchi