Lista de obras -

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

scientific article published on 07 August 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

artículo científico publicado en 2020

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

artículo científico publicado en 2019

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

scientific article published on 13 July 2020

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

artículo científico publicado en 2015

Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.

artículo científico publicado en 2017

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13

scientific article published on 17 June 2019

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

artículo científico publicado en 2019

Discordant phenotype caused by mutation in siblings with

artículo científico publicado en 2019

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

artículo científico publicado en 2003

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

scientific article published on 04 February 2022

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

artículo científico publicado en 2009

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9

artículo científico publicado en 2020

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 2018

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

scientific article published on 04 February 2020

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

artículo científico publicado en 2019

Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses

scientific article published on 01 August 2006

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

artículo científico publicado en 2012

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

scientific article published on 02 October 2020

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

artículo científico publicado en 2013

Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability

scientific article published on 24 June 2019

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features

scientific article published on 01 October 2005

Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism

artículo científico publicado en 2020

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

artículo científico publicado en 2020

Tracheal cartilaginous sleeve in patients with Beare-Stevenson syndrome

artículo científico publicado en 2019

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73

scientific article published on 09 October 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

Lista de obras de

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

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

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

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

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

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Discordant phenotype caused by mutation in siblings with

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT

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

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

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

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

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

Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses

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

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

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

Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features

Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Tracheal cartilaginous sleeve in patients with Beare-Stevenson syndrome

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73

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