Tsutomu Ogata
緒方, 勤
Ogata, Tsutomu.
VIAF ID: 81055900 (Personal)
Permalink: http://viaf.org/viaf/81055900
Preferred Forms
- 100 1 _ ‡a Ogata, Tsutomu
-
- 100 0 _ ‡a Tsutomu Ogata
- 100 1 _ ‡a 緒方, 勤
- 100 1 _ ‡a 緒方, 勤
- 100 1 _ ‡a 緒方, 勤
4xx's: Alternate Name Forms (16)
Works
Title | Sources |
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MAMLD1 (CXorf6) is a New Gene for Hypospadias | |
Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells | |
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer | |
MLL2 and KDM6A mutations in patients with Kabuki syndrome | |
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. | |
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. | |
Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism | |
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans | |
Mutation screening for the 5alpha-reductase type 2 gene in Japanese men with idiopathic azoospermia. | |
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. | |
Nomenclature of primary amenorrhea: A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea. | |
[Noonan syndrome] | |
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. | |
Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. | |
Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias | |
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation | |
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions | |
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. | |
Nunan shokogun no manejimento. | |
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. | |
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice | |
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome | |
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty | |
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia | |
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. | |
Parturition failure in mice lacking Mamld1. | |
Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations. | |
Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review. | |
Placentomegaly in paternal uniparental disomy for human chromosome 14 | |
Polymorphisms of MAMLD1 gene in hypospadias | |
Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. | |
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. | |
Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype. | |
PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. | |
Progress in analysing disorders of sexual development, c2008: | |
The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. | |
Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes. | |
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites. | |
Rationale and study design of the Japan environment and children's study (JECS) | |
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. | |
Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat | |
Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism | |
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features | |
SHOX defects in idiopathic short stature | |
[SHOX haploinsufficiency] | |
[Silver-Russell syndrome] | |
Skeletal Deformity Associated with SHOX Deficiency | |
SOX10 mutation in Waardenburg syndrome type II | |
SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. | |
Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome | |
Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation | |
STX2 is a causative gene for nonobstructive azoospermia. | |
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. | |
Tānā shōkōgun no idengaku | |
Target height and target range for Japanese children: revisited | |
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. | |
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. | |
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. | |
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. | |
Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study | |
Testicular volume in Japanese boys up to the age of 15 years | |
Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. | |
Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. | |
ターナー症候群の遺伝学 | |
ヌーナン症候群のマネジメント | |
性分化異常症の実態把握と治療指針作成 : 厚生労働科学研究費補助金 : 難治性疾患克服研究事業 |