Fumiko Kato

发表

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

A. Ferguson-Smith, T. Ogata, K. Kosaki, 2008, Nature Genetics.

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

T. Ogata, G. Binder, S. Kanzaki, 2011, The Journal of clinical endocrinology and metabolism.

Mutation analysis of FGFR1‐3 in 11 Japanese patients with syndromic craniosynostoses

T. Ogata, G. Nishimura, H. Suzumura, 2017, American journal of medical genetics. Part A.

Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

T. Ogata, T. Kikuchi, K. Nagasaki, 2014, Journal of Human Genetics.

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Machiko Kadoya, Y. Wada, T. Ogata, 2021, Endocrine journal.

Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

T. Ogata, M. Hannibal, H. Saitsu, 2020, Journal of human genetics.

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of Human Genetics.

A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.

H. Sasano, T. Ogata, Y. Sugimura, 2013, The Tohoku journal of experimental medicine.

MAMLD1 and 46,XY Disorders of Sex Development

T. Ogata, M. Fukami, E. Nagata, 2012, Seminars in Reproductive Medicine.

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

T. Ogata, G. Nishimura, T. Hasegawa, 2014, Clinical endocrinology.

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of human genetics.

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

A. Green, M. O'sullivan, A. Ferguson-Smith, 2010, PLoS genetics.

Paternal uniparental disomy 14 and related disorders

T. Ogata, K. Matsuoka, K. Kurosawa, 2012, Epigenetics.

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

T. Ogata, H. Saitsu, M. Kagami, 2020, Clinical case reports.

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

T. Ogata, G. Nishimura, Tomoko Sato, 2012, European Journal of Human Genetics.

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

T. Ogata, H. Saitsu, K. Aoto, 2021, Clinical epigenetics.

Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

T. Ogata, M. Hannibal, H. Saitsu, 2020, Journal of Human Genetics.

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

T. Ogata, H. Saitsu, S. Iijima, 2019, Journal of Human Genetics.

Mastermind-like Domain-containing 1 (MAMLD1 or CXorf6) Transactivates the Hes3 Promoter, Augments Testosterone Production, and Contains the SF1 Target Sequence*

T. Ogata, M. Kitagawa, K. Morohashi, 2008, Journal of Biological Chemistry.

Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR

H. Saitsu, Fumiko Kato, K. Sakaguchi, 2022, Pediatric blood & cancer.

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

T. Ogata, T. Hasegawa, N. Katsumata, 2013, Endocrine journal.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma

T. Ogata, Hiroyuki Ono, M. Kagami, 2016, The Journal of Steroid Biochemistry and Molecular Biology.

GATA3 abnormalities in six patients with HDR syndrome.

T. Ogata, Yoshimi Suzuki, K. Muroya, 2011, Endocrine journal.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

S. Takada, T. Ogata, R. Kosaki, 2019, European Journal of Human Genetics.

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

T. Ogata, Y. Hasegawa, R. Horikawa, 2008, Journal of Human Genetics.

Transactivation function of an ∼800-bp evolutionarily conserved sequence at the SHOX 3' region : Implication for the downstream enhancer

T. Ogata, T. Tajima, S. Yokoya, 2006 .

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

T. Ogata, T. Tajima, S. Yokoya, 2006, American journal of human genetics.

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

K. Nakayama, T. Ogata, Y. Matsubara, 2014, PloS one.

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

T. Ogata, H. Saitsu, S. Iijima, 2019, Journal of Human Genetics.

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

T. Ogata, H. Saitsu, S. Sano, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia

T. Ogata, H. Saitsu, S. Okada, 2022, American journal of medical genetics. Part A.

Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency

T. Ogata, T. Hasegawa, Hiroyuki Ono, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

MAMLD1 and 46,XY Disorders of Sex Development

T. Ogata, M. Fukami, E. Nagata, 2012, Seminars in Reproductive Medicine.