Toshiyuki Saito

Yokohama, Japan

Last Updated: 09/26/2026

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Found 13 publications

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

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

Journal: Congenital anomalies

Published: August 14, 2019

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

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

Journal: Human genome variation

Published: June 15, 2019

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

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

Journal: Congenital anomalies

Published: February 22, 2019

An efficient genetic test flow for multiple congenital anomalies and intellectual disability.

An efficient genetic test flow for multiple congenital anomalies and intellectual disability.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: January 07, 2019

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Journal: Journal of human genetics

Published: April 23, 2018

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

Journal: Congenital anomalies

Published: April 09, 2018

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Journal: Congenital anomalies

Published: December 19, 2017

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Journal: American journal of medical genetics. Part A

Published: August 13, 2014

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Journal: American journal of medical genetics. Part A

Published: September 25, 2013

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Journal: American journal of medical genetics. Part A

Published: September 25, 2013

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Journal: American journal of medical genetics. Part A

Published: September 05, 2013

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Journal: American journal of medical genetics. Part A

Published: September 02, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026