Get started
Author

Shinsuke Ninomiya

Observed names: Ninomiya, S., S Ninomiya, S. Ninomiya, SHINSUKE NINOMIYA, Shinsuke NINOMIYA, Shinsuke Ninomiya,
ORCID: 0000-0002-6904-0524
Observed ORCID: 0000-0002-6904-0524
OpenAlex ID: A5016589441
Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal
1996 · S. Ninomiya, M. Isomura, et al. · Human Molecular Genetics · 51
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation
1992 · Yuji Yokoyama, Kouji Narahara, et al. · Human Genetics · 45
Growth hormone deficiency and empty sella syndrome in a boy with dup(x)(q13.3→q21.2)
1992 · Yuji Yokoyama, Kouji Narahara, et al. · American Journal of Medical Genetics · 44
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
1999 · M. Teraoka, Y. Yokoyama, et al. · Human Genetics · 40
Renal and skin involvement in a patient with complete Kearns‐Sayre syndrome
1991 · Kazuhiro Mori, Kouji Narahara, et al. · American Journal of Medical Genetics · 40
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome
2020 · Hiroaki Murakami, Yoshinori Tsurusaki, et al. · American Journal of Medical Genetics Part A · 36
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
2020 · Yoshiro Suzuki, Hirotake Sawada, et al. · The Journal of Physiological Sciences · 34
PDF
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer
2009 · Taru A. Koski, Heli J. Lehtonen, et al. · Genes Chromosomes and Cancer · 32
Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
1992 · K Narahara, Y Takahashi, et al. · Journal of Medical Genetics · 31
PDF
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations
2022 · Hisato Suzuki, Masatoshi Nozaki, et al. · The Journal of Pediatrics · 30
Focal 9p instability in hematologic neoplasias revealed by comparative genomic hybridization and single‐nucleotide polymorphism microarray analyses
2009 · Anu Usvasalo, Shinsuke Ninomiya, et al. · Genes Chromosomes and Cancer · 29
Array comparative genomic hybridization reveals frequent alterations of G1/S checkpoint genes in undifferentiated pleomorphic sarcoma of bone
2011 · Tarja Niini, Leo Lahti, et al. · Genes Chromosomes and Cancer · 28
Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation
2015 · Akihito Takeuchi, Nobuhiko Okamoto, et al. · European Journal of Medical Genetics · 26
Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
1995 · Shinsuke Ninomiya, Kouji Narahara, et al. · American Journal of Medical Genetics · 25
Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of malouf syndrome
1992 · Kouji Narahara, Masahiro Kamada, et al. · American Journal of Medical Genetics · 22
Integrated Analysis of Gene Copy Number, Copy Neutral LOH, and microRNA Profiles in Adult Acute Lymphoblastic Leukemia
2012 · S. Ninomiya, A. Tyybäkinoja, et al. · Cytogenetic and Genome Research · 19
Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone—An array comparative genomic hybridization study
2009 · Tarja Niini, José Antonio López‐Guerrero, et al. · Genes Chromosomes and Cancer · 19
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation
1994 · Kazushiro Tsuji, Kouji Narahara, et al. · American Journal of Medical Genetics · 18
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
2015 · Toshiyuki Yamamoto, Shino Shimada, et al. · European Journal of Medical Genetics · 14
A novel mutation (296 del G) of the SOX9 gene in a patient with campomelic syndrome and sex reversal
2000 · S Ninomiya, Y Yokoyama, et al. · Clinical Genetics · 14
Reproductive risk in mating between two translocation carriers: Case report and review of the literature
1993 · Kazushiro Tsuji, Kouji Narahara, et al. · American Journal of Medical Genetics · 14
De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies
1992 · Yoshiharu Wakita, Kouji Narahara, et al. · Human Genetics · 13
Unique karyotypes in two patients with Prader‐Willi syndrome
1992 · Kouji Narahara, Kei Hiramoto, et al. · American Journal of Medical Genetics · 10
High-resolution oligonucleotide array comparative genomic hybridization study and methylation status of the RPS14 gene in de novo myelodysplastic syndromes
2010 · Ioana Borze, Eeva Juvonen, et al. · Cancer Genetics and Cytogenetics · 8
Maternal origin of a unique extra chromosome, der(9)(pter?q13::q13?q12:) in a girl with typical trisomy 9p syndrome
2001 · Michio Teraoka, Koji Narahara, et al. · American Journal of Medical Genetics · 7
Works count: 51
Citation count: 682
H-index: 18
I10-index: 23
Year
Topic
Type