Suzuki Hisato

Researcher's full information

Articles

• A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R
  Nakajima Kimiko; Suzuki Hisato; Yamamoto Mayuko; Yamam...
  The Journal of dermatology/49(7)/pp.714-718, 2022-07-01
  
  PubMed
• Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3
  Watanabe Keisuke; Noguchi Atsuko; Takahashi Ikuko; Yam...
  Human genome variation/9(1)/p.23, 2022-06-09
  
  PubMed
• Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
  Yamada Mamiko; Suzuki Hisato; Futagawa Hiroshi; Takeno...
  European journal of medical genetics/65(6), 2022-06-01
  
  PubMed
• RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies
  Hiraide Takahiro; Suzuki Hisato; Momoi Mizuki; Shinya ...
  Life (Basel, Switzerland)/12(4), 2022-04-08
  
  PubMed
• The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant
  Ogura Yurie; Uehara Tomoko; Ujibe Kota; Yoshihashi Hi...
  American journal of medical genetics. Part A/188(4)/pp.1184-1192, 2022-04-01
  
  PubMed
• TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension
  Hiraide Takahiro; Suzuki Hisato; Shinya Yoshiki; Momoi...
  CJC open/4(4)/pp.416-419, 2022-04-01
  
  PubMed
• Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
  Yamada Mamiko; Arimitsu Takeshi; Suzuki Hisato; Miwa ...
  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery/38(3)/pp.659-663, 2022-03-01
  
  PubMed
• BCS1L mutations produce Fanconi syndrome with developmental disability
  Kanako Kojima-Ishii; Sakakibara Nana; Murayama Kei; Na...
  Journal of human genetics/67(3)/pp.143-148, 2022-03-01
  
  PubMed
• Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report
  Tsuchida Yumi; Nagafuchi Yasuo; Uehara Tomoko; Suzuki ...
  Medicine/101(7), 2022-02-18
  
  PubMed
• A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders
  Yamada Mamiko; Suzuki Hisato; Shima Taiki; Uehara Tom...
  American journal of medical genetics. Part A/188(2)/pp.613-617, 2022-02-01
  
  PubMed
• Vanishing basal ganglia in ATP1A3-related polymicrogyria
  Ogawa Eri; Sakaguchi Yuri; Enokizono Mikako; Yoshihash...
  American journal of medical genetics. Part A/188(2)/pp.665-667, 2022-02-01
  
  PubMed
• Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations.
  Suzuki Hisato; Nozaki Masatoshi; Yoshihashi Hiroshi; Imag...
  JOURNAL OF PEDIATRICS/244/p.38, 2022-02
  
  PubMed
• Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
  Yamada Mamiko; Suzuki Hisato; Adachi Hiroyuki; Noguchi...
  BMC neurology/22(1)/p.20, 2022-01-10
  
  PubMed
• Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
  Murofushi Yuka; Hayakawa Itaru; Abe Yuichi; Ohto Tatsuyu...
  NEUROPEDIATRICS/Epub, 2021-08
  
  PubMed