MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J Austin, Akay, Gulsen, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura, van Eerde, Albertien M, Wagner, Timo, Bergmann, Carsten, Buchan, Jillian, Wegner, Tara, Posey, Jennifer, Lupski, James R, Petit, Florence, Mccarthy, Andrew A, Pazour, Gregory J, Lo, Cecilia W, Popp, Bernt, Halbritter, Jan
Published in Nephrology, dialysis, transplantation (03.05.2022)
Published in Nephrology, dialysis, transplantation (03.05.2022)
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Journal Article
An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis
Setoguchi, Akito, Kawano, Hiroaki, Okano, Shinji, Honda, Tomohiro, Kato, Takeharu, Dateki, Sumito, Senoo, Akira, Nakashima, Yomi, Motokawa, Tetsufumi, Ueno, Yuki, Akashi, Ryohei, Yonekura, Tsuyoshi, Sueyoshi, Eijun, Ikeda, Satoshi, Miyazaki, Yasushi, Maemura, Koji
Published in Internal Medicine (2023)
Published in Internal Medicine (2023)
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Journal Article
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M, Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A, Sachdev, Rani, McGillivray, George, Leventer, Richard J, Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J, Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M H, Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri, Suzuki, Toshifumi, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi
Published in Journal of human genetics (01.12.2019)
Published in Journal of human genetics (01.12.2019)
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Journal Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
Dateki, Sumito, Kosaka, Kitaro, Hasegawa, Kosei, Tanaka, Hiroyuki, Azuma, Noriyuki, Yokoya, Susumu, Muroya, Koji, Adachi, Masanori, Tajima, Toshihiro, Motomura, Katsuaki, Kinoshita, Eiichi, Moriuchi, Hiroyuki, Sato, Naoko, Fukami, Maki, Ogata, Tsutomu
Published in The journal of clinical endocrinology and metabolism (01.02.2010)
Published in The journal of clinical endocrinology and metabolism (01.02.2010)
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Journal Article
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5
Nakano, Yujiro, Komiya, Chikara, Shimizu, Hitomi, Mishima, Hiroyuki, Shiba, Kumiko, Tsujimoto, Kazutaka, Ikeda, Kenji, Kashimada, Kenichi, Dateki, Sumito, Yoshiura, Koh-ichiro, Ogawa, Yoshihiro, Yamada, Tetsuya
Published in Endocrine Journal (2020)
Published in Endocrine Journal (2020)
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Journal Article
Identification of 11p14.1‐p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles
Dateki, Sumito, Watanabe, Satoshi, Kinoshita, Fumiko, Yoshiura, Koh‐ichiro, Moriuchi, Hiroyuki
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Journal Article
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence
Takasawa, Kei, Mabe, Hiroyo, Nagamatsu, Fusa, Amano, Naoko, Miyakawa, Yuichi, Sutani, Akito, Kagawa, Reiko, Okada, Satoshi, Tanahashi, Yusuke, Suzuki, Shigeru, Hiroshima, Shota, Nagasaki, Keisuke, Dateki, Sumito, Takishima, Shigeru, Takahashi, Ikuko, Kashimada, Kenichi
Published in Patient preference and adherence (31.08.2023)
Published in Patient preference and adherence (31.08.2023)
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Journal Article
Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion
Dateki, Sumito, Fukami, Maki, Uematsu, Ayumi, Kaji, Masayuki, Iso, Manami, Ono, Makoto, Mizota, Michiyo, Yokoya, Susumu, Motomura, Katsuaki, Kinoshita, Eiichi, Moriuchi, Hiroyuki, Ogata, Tsutomu
Published in The journal of clinical endocrinology and metabolism (01.08.2010)
Published in The journal of clinical endocrinology and metabolism (01.08.2010)
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Journal Article
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) gene
Takasawa, Kei, Tsuji‐Hosokawa, Atsumi, Takishima, Shigeru, Wada, Yasunori, Nagasaki, Keisuke, Dateki, Sumito, Numakura, Chikahiko, Hijikata, Atsushi, Shirai, Tsuyoshi, Kashimada, Kenichi, Morio, Tomohiro
Published in Journal of diabetes (01.01.2019)
Published in Journal of diabetes (01.01.2019)
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Journal Article
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood
Miyakawa, Yuichi, Takasawa, Kei, Matsubara, Yohei, Ihara, Kenji, Ohtsu, Yoshiaki, Kamasaki, Hotaka, Kitsuda, Kazuteru, Kobayashi, Hironori, Satoh, Mari, Sano, Sinichiro, Dateki, Sumito, Mochizuki, Hiroshi, Yokota, Ichiro, Hasegawa, Yukihiro, Kashimada, Kenichi
Published in Endocrine Journal (2019)
Published in Endocrine Journal (2019)
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Journal Article
novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
Ashkenazi-Hoffnung, Liat, Lebenthal, Yael, Wyatt, Alexander W, Ragge, Nicola K, Dateki, Sumito, Fukami, Maki, Ogata, Tsutomu, Phillip, Moshe, Gat-Yablonski, Galia
Published in Human genetics (01.06.2010)
Published in Human genetics (01.06.2010)
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Journal Article
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor ( INSR ) gene: 胰岛素受体( INSR )基因β亚基杂合突变所导致A型胰岛素抵抗综合征的青少年病例临床特征
Takasawa, Kei, Tsuji‐Hosokawa, Atsumi, Takishima, Shigeru, Wada, Yasunori, Nagasaki, Keisuke, Dateki, Sumito, Numakura, Chikahiko, Hijikata, Atsushi, Shirai, Tsuyoshi, Kashimada, Kenichi, Morio, Tomohiro
Published in Journal of diabetes (01.01.2019)
Published in Journal of diabetes (01.01.2019)
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Journal Article
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
Hashimoto, Nobuhiro, Dateki, Sumito, Suzuki, Eri, Tsuchihashi, Takatoshi, Isobe, Aiko, Banno, Sari, Kageyama, Tomoka, Maeda, Naonori, Hatabu, Naomi, Sato, Rieko, Miharu, Masashi, Fujita, Hisayo, Komiyama, Osamu, Shimizu, Hitomi, Hasegawa, Tomonobu, Yamazawa, Kazuki
Published in Human genome variation (14.09.2020)
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Published in Human genome variation (14.09.2020)
Journal Article
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure
Shirakawa, Toshihiko, Nakashima, Yumiko, Watanabe, Satoshi, Harada, Sadatomo, Kinoshita, Mariko, Kihara, Toshiharu, Hamasaki, Yuko, Shishido, Seiichiro, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Published in CEN case reports (01.05.2018)
Published in CEN case reports (01.05.2018)
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Journal Article
Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother
Fukami, Maki, Maruyama, Tetsuo, Dateki, Sumito, Sato, Naoko, Yoshimura, Yasunori, Ogata, Tsutomu
Published in Hormone research in paediatrics (01.01.2010)
Published in Hormone research in paediatrics (01.01.2010)
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Journal Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
Dateki, Sumito, Kosaka, Kitaro, Hasegawa, Kosei, Tanaka, Hiroyuki, Azuma, Noriyuki, Yokoya, Susumu, Muroya, Koji, Adachi, Masanori, Tajima, Toshihiro, Motomura, Katsuaki, Kinoshita, Eiichi, Moriuchi, Hiroyuki, Sato, Naoko, Fukami, Maki, Ogata, Tsutomu
Published in Endocrine reviews (01.02.2010)
Published in Endocrine reviews (01.02.2010)
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Journal Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
Dateki, Sumito, Kosaka, Kitaro, Hasegawa, Kosei, Tanaka, Hiroyuki, Azuma, Noriyuki, Yokoya, Susumu, Muroya, Koji, Adachi, Masanori, Tajima, Toshihiro, Motomura, Katsuaki, Kinoshita, Eiichi, Moriuchi, Hiroyuki, Sato, Naoko, Fukami, Maki, Ogata, Tsutomu
Published in Endocrinology (Philadelphia) (01.01.2010)
Published in Endocrinology (Philadelphia) (01.01.2010)
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Journal Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
Dateki, Sumito, Kosaka, Kitaro, Hasegawa, Kosei, Tanaka, Hiroyuki, Azuma, Noriyuki, Yokoya, Susumu, Muroya, Koji, Adachi, Masanori, Tajima, Toshihiro, Motomura, Katsuaki, Kinoshita, Eiichi, Moriuchi, Hiroyuki, Sato, Naoko, Fukami, Maki, Ogata, Tsutomu
Published in Molecular endocrinology (Baltimore, Md.) (01.01.2010)
Published in Molecular endocrinology (Baltimore, Md.) (01.01.2010)
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