Rezultati pretrage autora

1

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region od Tsutomu Ogata, Masayo Kagami

Izdano 2015

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2

SHOX haploinsufficiency and overdosage: impact of gonadal function status od Tsutomu Ogata, Naoki Matsuo, Gen Nishimura

Izdano 2001

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3

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature od Maki Fukami, Atsuhito Seki, Tsutomu Ogata

Izdano 2016

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4

A Track Record on SHOX: From Basic Research to Complex Models and Therapy od Antonio Marchini, Tsutomu Ogata, Gudrun Rappold

Izdano 2016

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5

Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development od Maki Fukami, Keiko Homma, Tomonobu Hasegawa, Tsutomu Ogata

Izdano 2012

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6

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST od Masayo Kagami, Toshiro Nagai, Maki Fukami, Kazuki Yamazawa, Tsutomu Ogata

Izdano 2007

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7

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome) od Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, Fumitoshi Ishino, Kentaro Matsuoka, Tsutomu Ogata

Izdano 2015

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8

OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters od Sumito Dateki, Maki Fukami, Naoko Sato, Koji Muroya, Masanori Adachi, Tsutomu Ogata

Izdano 2008

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9

Association of Cryptorchidism with a Specific Haplotype of the Estrogen Receptor α Gene: Implication for the Susceptibility to Estrogenic Environmental Endocrine Disruptors od Rie Yoshida, Maki Fukami, Isoji Sasagawa, Tomonobu Hasegawa, Naoyuki Kamatani, Tsutomu Ogata

Izdano 2005

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10

Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Ho... od Maki Fukami, Tomonobu Hasegawa, Reiko Horikawa, Toya Ohashi, Gen Nishimura, Keiko Homma, Tsutomu Ogata

Izdano 2006

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11

Genotype–phenotype correlation of PAX6 gene mutations in aniridia od Tadashi Yokoi, Sachiko Nishina, Maki Fukami, Tsutomu Ogata, Katsuhiro Hosono, Yoshihiro Hotta, Noriyuki Azuma

Izdano 2016

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12

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. od Tsutomu Ogata, J. Ross Hawkins, Annabel L. Taylor, Naoki Matsuo, Junichi Hata, Peter N. Goodfellow

Izdano 1992

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13

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype od Masayo Kagami, Seiji Mizuno, Keiko Matsubara, Kazuhiko Nakabayashi, Shinichiro Sano, Tomoko Fuke, Maki Fukami, Tsutomu Ogata

Izdano 2014

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14

Identification and Functional Characterization of Two Novel <i>NPR2</i> Mutations in Japanese Patients With Short Stature od Naoko Amano, Tokuo Mukai, Yoshiya Ito, Satoshi Narumi, Toshiaki Tanaka, Susumu Yokoya, Tsutomu Ogata, Tomonobu Hasegawa

Izdano 2014

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15

Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review od Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata

Izdano 2025

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16

Testicular Dysgenesis without Adrenal Insufficiency in a 46,XY Patient with a Heterozygous Inactive Mutation of Steroidogenic Factor-1 od Tomonobu Hasegawa, Maki Fukami, Naoko Sato, Noriyuki Katsumata, Goro Sasaki, Keiko Fukutani, Ken-ichirou Morohashi, Tsutomu Ogata

Izdano 2004

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17

Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients od Tsutomu Ogata, Koji Muroya, Nobutake Matsuo, Osamu Shinohara, Tohru Yorifuji, Yoshikazu Nishi, Yukihiro Hasegawa, Reiko Horikawa, Katsuhiko Tachibana

Izdano 2001

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18

11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome od Tomoko Yoshida, Toshiya Matsuzaki, Mami Miyado, Kazuki Saito, Takeshi Iwasa, Yoichi Matsubara, Tsutomu Ogata, Minoru Irahara, Maki Fukami

Izdano 2018

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19

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2 od Hisato Kobayashi, Kaori Yamada, Shinnosuke Morita, Hitoshi Hiura, Atsushi Fukuda, Masayo Kagami, Tsutomu Ogata, Kenichiro Hata, Yusuke Sotomaru, Tomohiro Kono

Izdano 2009

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20

Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature od Hiroshi Inoue, Natsumi Kangawa, Atsuko Kinouchi, Yukiko Sakamoto, Chizuko Kimura, Reiko Horikawa, Yosuke Shigematsu, Mitsuo Itakura, Tsutomu Ogata, Kenji Fujieda

Izdano 2010

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Rezultati pretrage - Tsutomu Ogata

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region od Tsutomu Ogata, Masayo Kagami

SHOX haploinsufficiency and overdosage: impact of gonadal function status od Tsutomu Ogata, Naoki Matsuo, Gen Nishimura

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature od Maki Fukami, Atsuhito Seki, Tsutomu Ogata

A Track Record on SHOX: From Basic Research to Complex Models and Therapy od Antonio Marchini, Tsutomu Ogata, Gudrun Rappold

Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development od Maki Fukami, Keiko Homma, Tomonobu Hasegawa, Tsutomu Ogata

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST od Masayo Kagami, Toshiro Nagai, Maki Fukami, Kazuki Yamazawa, Tsutomu Ogata

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome) od Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, Fumitoshi Ishino, Kentaro Matsuoka, Tsutomu Ogata

OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters od Sumito Dateki, Maki Fukami, Naoko Sato, Koji Muroya, Masanori Adachi, Tsutomu Ogata

Association of Cryptorchidism with a Specific Haplotype of the Estrogen Receptor α Gene: Implication for the Susceptibility to Estrogenic Environmental Endocrine Disruptors od Rie Yoshida, Maki Fukami, Isoji Sasagawa, Tomonobu Hasegawa, Naoyuki Kamatani, Tsutomu Ogata

Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Ho... od Maki Fukami, Tomonobu Hasegawa, Reiko Horikawa, Toya Ohashi, Gen Nishimura, Keiko Homma, Tsutomu Ogata

Genotype–phenotype correlation of PAX6 gene mutations in aniridia od Tadashi Yokoi, Sachiko Nishina, Maki Fukami, Tsutomu Ogata, Katsuhiro Hosono, Yoshihiro Hotta, Noriyuki Azuma

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. od Tsutomu Ogata, J. Ross Hawkins, Annabel L. Taylor, Naoki Matsuo, Junichi Hata, Peter N. Goodfellow

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype od Masayo Kagami, Seiji Mizuno, Keiko Matsubara, Kazuhiko Nakabayashi, Shinichiro Sano, Tomoko Fuke, Maki Fukami, Tsutomu Ogata

Identification and Functional Characterization of Two Novel <i>NPR2</i> Mutations in Japanese Patients With Short Stature od Naoko Amano, Tokuo Mukai, Yoshiya Ito, Satoshi Narumi, Toshiaki Tanaka, Susumu Yokoya, Tsutomu Ogata, Tomonobu Hasegawa

Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review od Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata

Testicular Dysgenesis without Adrenal Insufficiency in a 46,XY Patient with a Heterozygous Inactive Mutation of Steroidogenic Factor-1 od Tomonobu Hasegawa, Maki Fukami, Naoko Sato, Noriyuki Katsumata, Goro Sasaki, Keiko Fukutani, Ken-ichirou Morohashi, Tsutomu Ogata

Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients od Tsutomu Ogata, Koji Muroya, Nobutake Matsuo, Osamu Shinohara, Tohru Yorifuji, Yoshikazu Nishi, Yukihiro Hasegawa, Reiko Horikawa, Katsuhiko Tachibana

11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome od Tomoko Yoshida, Toshiya Matsuzaki, Mami Miyado, Kazuki Saito, Takeshi Iwasa, Yoichi Matsubara, Tsutomu Ogata, Minoru Irahara, Maki Fukami

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