Hirotomo Saitsu

Hirotomo Saitsu

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Hirotomo Saitsu

Publications by authors named "Hirotomo Saitsu"

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De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

J Hum Genet 2019 Oct 6;64(10):1041-1044. Epub 2019 Aug 6.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/s10038-019-0650-0DOI Listing
October 2019

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.

Intern Med 2019 Sep 7;58(18):2715-2719. Epub 2019 Jun 7.

Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.2169/internalmedicine.2126-18DOI Listing
September 2019

De novo variants in cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.

Epilepsia Open 2019 Sep 24;4(3):476-481. Epub 2019 May 24.

Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan.

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http://dx.doi.org/10.1002/epi4.12339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698685PMC
September 2019

Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders".

Ann Neurol 2019 Sep 11. Epub 2019 Sep 11.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ana.25599DOI Listing
September 2019

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.

J Hum Genet 2019 Aug 16. Epub 2019 Aug 16.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/s10038-019-0656-7DOI Listing
August 2019

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.

Mol Genet Genomic Med 2019 Jul 20;7(7):e00698. Epub 2019 May 20.

Department of Embryology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.

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http://dx.doi.org/10.1002/mgg3.698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625133PMC
July 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 Jul 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 2019

Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.

Congenit Anom (Kyoto) 2019 Jul 21. Epub 2019 Jul 21.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1111/cga.12351DOI Listing
July 2019

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Brain Dev 2019 May 2;41(5):474-479. Epub 2019 Feb 2.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183059
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http://dx.doi.org/10.1016/j.braindev.2019.01.005DOI Listing
May 2019

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

Am J Med Genet A 2019 Apr 24;179(4):645-649. Epub 2019 Jan 24.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.61056
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http://dx.doi.org/10.1002/ajmg.a.61056DOI Listing
April 2019

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.

J Hum Genet 2019 Feb 20;64(2):145-152. Epub 2018 Sep 20.

Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan.

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http://www.nature.com/articles/s10038-018-0512-1
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http://dx.doi.org/10.1038/s10038-018-0512-1DOI Listing
February 2019

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).

Seizure 2019 Feb 18;65:118-123. Epub 2019 Jan 18.

National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka-shi, Shizuoka, 420-8688, Japan.

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http://dx.doi.org/10.1016/j.seizure.2019.01.009DOI Listing
February 2019

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Brain 2018 11;141(11):3098-3114

Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan.

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http://dx.doi.org/10.1093/brain/awy246DOI Listing
November 2018

variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

Clin Case Rep 2018 Nov 11;6(11):2229-2233. Epub 2018 Oct 11.

Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan.

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http://dx.doi.org/10.1002/ccr3.1851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230668PMC
November 2018

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Brain Dev 2018 Oct 12;40(9):819-823. Epub 2018 Jun 12.

Department of Pediatrics, Nagasaki University Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.05.012DOI Listing
October 2018

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Seizure 2018 Aug 13;60:91-93. Epub 2018 Jun 13.

Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

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http://dx.doi.org/10.1016/j.seizure.2018.06.012DOI Listing
August 2018

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Jpn J Ophthalmol 2018 Jul 17;62(4):458-466. Epub 2018 Apr 17.

Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka, 431-3192, Japan.

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http://link.springer.com/10.1007/s10384-018-0591-8
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http://dx.doi.org/10.1007/s10384-018-0591-8DOI Listing
July 2018

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Ann Neurol 2018 07 30;84(1):159-161. Epub 2018 Jul 30.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1002/ana.25256DOI Listing
July 2018

A recurrent homozygous variant in siblings with Lafora disease.

Hum Genome Var 2018 12;5:16. Epub 2018 Jul 12.

5Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/s41439-018-0015-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043589PMC
July 2018

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Brain Dev 2018 May 5;40(5):406-409. Epub 2018 Mar 5.

Department of Pediatrics, Research Center for Children, Research Center for Rett Syndrome, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.12.013DOI Listing
May 2018

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-017-0405-8DOI Listing
March 2018

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

Brain Dev 2018 Jan 4;40(1):69-73. Epub 2017 Jul 4.

Department of Pediatrics, Jichi Medical University, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.06.004DOI Listing
January 2018

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.

Brain Dev 2018 Jan 17;40(1):53-57. Epub 2017 Jul 17.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2017.06.005DOI Listing
January 2018

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.

Am J Med Genet A 2018 01 21;176(1):139-143. Epub 2017 Nov 21.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38535DOI Listing
January 2018

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Mov Disord 2018 01 22;33(1):177-179. Epub 2017 Nov 22.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1002/mds.27219DOI Listing
January 2018

A patient with Muenke syndrome manifesting migrating neonatal seizures.

Brain Dev 2017 Nov 24;39(10):873-876. Epub 2017 May 24.

Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.

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http://dx.doi.org/10.1016/j.braindev.2017.05.007DOI Listing
November 2017

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.

J Hum Genet 2017 Nov 20;62(11):997-1000. Epub 2017 Jul 20.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2017.77DOI Listing
November 2017

Folate receptors and neural tube closure.

Authors:
Hirotomo Saitsu

Congenit Anom (Kyoto) 2017 Sep 18;57(5):130-133. Epub 2017 Apr 18.

Department of Biochemistry, Hamamatsu University School of Medicine, Higashi-ku, Hamamatsu, Japan.

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http://dx.doi.org/10.1111/cga.12218DOI Listing
September 2017

Disturbed chromosome segregation and multipolar spindle formation in a patient with mutation.

Mol Genet Genomic Med 2017 Sep 12;5(5):585-591. Epub 2017 Jul 12.

Department of Human GeneticsYokohama City University Graduate School of MedicineYokohamaJapan.

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http://dx.doi.org/10.1002/mgg3.303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606869PMC
September 2017

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.

Hum Mutat 2017 08 29;38(8):953-958. Epub 2017 May 29.

Departments of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1002/humu.23253DOI Listing
August 2017

Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation.

Parkinsonism Relat Disord 2017 07 18;40:80-82. Epub 2017 Apr 18.

Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.parkreldis.2017.04.009DOI Listing
July 2017

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

J Hum Genet 2017 Jun 2;62(6):653-655. Epub 2017 Feb 2.

Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.

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http://dx.doi.org/10.1038/jhg.2017.11DOI Listing
June 2017

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

J Neurol Sci 2017 May 1;376:7-12. Epub 2017 Mar 1.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1016/j.jns.2017.02.065DOI Listing
May 2017

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.

Brain Dev 2017 Mar 12;39(3):266-270. Epub 2016 Oct 12.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.09.011DOI Listing
March 2017

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

Eur J Med Genet 2017 Mar 23;60(3):169-171. Epub 2016 Dec 23.

Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.12.008DOI Listing
March 2017

Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

Am J Med Genet A 2017 Mar 27;173(3):744-748. Epub 2017 Jan 27.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38027DOI Listing
March 2017

Foxc2 knock-in mice mark stage-specific Foxc2-expressing cells during mouse organogenesis.

Congenit Anom (Kyoto) 2017 Jan;57(1):24-31

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1111/cga.12198DOI Listing
January 2017

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation.

Brain Dev 2016 Nov 2;38(10):950-953. Epub 2016 Jul 2.

Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Japan; Niigata University Medical and Dental Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.06.004DOI Listing
November 2016

Bortezomib-resistance is associated with increased levels of proteasome subunits and apoptosis-avoidance.

Oncotarget 2016 Nov;7(47):77622-77634

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.18632/oncotarget.12731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363609PMC
November 2016

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

Brain Dev 2016 Oct 7;38(9):852-6. Epub 2016 May 7.

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.04.007DOI Listing
October 2016

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

J Hum Genet 2016 Sep 26;61(9):835-8. Epub 2016 May 26.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.

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http://dx.doi.org/10.1038/jhg.2016.54DOI Listing
September 2016

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

Pediatrics 2016 Sep 18;138(3). Epub 2016 Aug 18.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;

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http://dx.doi.org/10.1542/peds.2016-0897DOI Listing
September 2016

WDR45 mutations in three male patients with West syndrome.

J Hum Genet 2016 Jul 31;61(7):653-61. Epub 2016 Mar 31.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.27DOI Listing
July 2016

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.

Ann Hum Genet 2016 Jul;80(4):235-40

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.

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http://dx.doi.org/10.1111/ahg.12157DOI Listing
July 2016

The first genetically confirmed Japanese patient with mucolipidosis type IV.

Clin Case Rep 2016 May 13;4(5):509-12. Epub 2016 Apr 13.

Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan.

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http://dx.doi.org/10.1002/ccr3.540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247PMC
May 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016