Búsqueda | Biblioteca Virtual en Salud

1.

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Dateki, Sumito; Watanabe, Satoshi; Mishima, Hiroyuki; Shirakawa, Toshihiko; Morikawa, Minoru; Kinoshita, Eiichi; Yoshiura, Koh-Ichiro; Moriuchi, Hiroyuki.

J Hum Genet ; 64(4): 341-346, 2019 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-30692597

2.

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.

Dateki, Sumito; Watanabe, Satoshi; Nakatomi, Akiko; Kinoshita, Eiichi; Matsumoto, Tadashi; Yoshiura, Koh-Ichiro; Moriuchi, Hiroyuki.

Pediatr Int ; 58(5): 431-3, 2016 May.

Artículo en Inglés | MEDLINE | ID: mdl-27173423

3.

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.

Fukami, Maki; Iso, Manami; Sato, Naoko; Igarashi, Maki; Seo, Misuzu; Kazukawa, Itsuro; Kinoshita, Eiichi; Dateki, Sumito; Ogata, Tsutomu.

Endocr J ; 60(8): 1013-20, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23657145

4.

The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.

Tanaka, Toshiaki; Soneda, Shun; Sato, Naoko; Kishi, Kentaro; Noda, Masahiro; Ogasawara, Atsuko; Nose, Osamu; Nakano, Yukiko; Kinoshita, Eiichi; Mochizuki, Takahiro; Konda, Susumu; Murashita, Mari; Tanizawa, Takakuni; Nozue, Hiroki; Tokuda, Masakuni; Kubota, Kazuoki; Araki, Kumiko; Kitanaka, Sachiko; Inomata, Hiroaki; Miyagi, Chuken; Ishizu, Katsura; Miyagawa, Shinichiro.

Horm Res Paediatr ; 94(5-6): 211-218, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-34425577

5.

Remission of primary low-grade gastric lymphomas of the mucosa-associated lymphoid tissue type in immunocompromised pediatric patients.

Ohno, Yasuharu; Kosaka, Taichirou; Muraoka, Izumi; Kanematsu, Takashi; Tsuru, Akira; Kinoshita, Eiichi; Moriuchi, Hiroyuki.

World J Gastroenterol ; 12(16): 2625-8, 2006 Apr 28.

Artículo en Inglés | MEDLINE | ID: mdl-16688815

6.

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

Yoshida, Rie; Hasegawa, Tomonobu; Hasegawa, Yukihiro; Nagai, Toshiro; Kinoshita, Eiichi; Tanaka, Yoko; Kanegane, Hirokazu; Ohyama, Kenji; Onishi, Toshikazu; Hanew, Kunihiko; Okuyama, Torayuki; Horikawa, Reiko; Tanaka, Toshiaki; Ogata, Tsutomu.

J Clin Endocrinol Metab ; 89(7): 3359-64, 2004 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-15240615

7.

Persistent hepatitis associated with chronic active Epstein-Barr virus infection.

Yuge, Akihiko; Kinoshita, Eiichi; Moriuchi, Masako; Ohno, Yasuharu; Haga, Hironori; Moriuchi, Hiroyuki.

Pediatr Infect Dis J ; 23(1): 74-6, 2004 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-14743053

8.

[DAX-1 abnormality].

Kinoshita, Ei-ichi.

Nihon Rinsho ; 60(2): 391-6, 2002 Feb.

Artículo en Japonés | MEDLINE | ID: mdl-11857932

9.

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.

J Clin Endocrinol Metab ; 95(8): 4043-7, 2010 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-20534763

10.

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.

J Clin Endocrinol Metab ; 95(2): 756-64, 2010 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19965921

11.

The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome.

Yamamoto, Takehisa; Imanishi, Yasuo; Kinoshita, Eiichi; Nakagomi, Yoshiko; Shimizu, Nobuhiko; Miyauchi, Akimitsu; Satomura, Kenichi; Koshiyama, Hiroyuki; Inaba, Masaaki; Nishizawa, Yoshiki; Jüppner, Harald; Ozono, Keiichi.

J Bone Miner Metab ; 23(3): 231-7, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-15838626

12.

Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.

Sasaki, Rie; Inamo, Yasuji; Saitoh, Kazumasa; Hasegawa, Tomonobu; Kinoshita, Eiichi; Ogata, Tsutomu.

Endocr J ; 50(3): 303-7, 2003 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-12940459

13.

Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child.

Nishimura, Gen; Hasegawa, Tomonobu; Kinoshita, Eiichi; Tanaka, Yoko; Kurosawa, Kenzi; Yoshimoto, Masaaki.

Am J Med Genet A ; 128A(2): 204-8, 2004 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-15214018

14.

Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.

Kondoh, Tatsuro; Eguchi, Jiro; Hamasaki, Yoichiro; Doi, Tomoki; Kinoshita, Eiichi; Matsumoto, Tadashi; Abe, Kuniko; Ohtani, Yoshinobu; Moriuchi, Hiroyuki.

Am J Med Genet A ; 125A(3): 290-2, 2004 Mar 15.

Artículo en Inglés | MEDLINE | ID: mdl-14994239

15.

The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression.

Naganuma, Masako; Kondoh, Tatsuro; Tashiro, Kasumi; Gohda, Yuji; Nakane, Hideyuki; Kinoshita, Eiichi; Matsumoto, Tadashi; Moriuchi, Hiroyuki.

Pediatr Int ; 47(6): 691-3, 2005 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-16354227

16.

Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome?

Takahira, Shoko; Kondoh, Tatsuro; Sumi, Muneichiro; Tagawa, Masato; Obatake, Masayuki; Kinoshita, Eiichi; Shimokawa, Osamu; Harada, Naoki; Miyake, Noriko; Matsumoto, Naomichi; Moriuchi, Hiroyuki.

Am J Med Genet A ; 138A(3): 297-9, 2005 Oct 15.

Artículo en Inglés | MEDLINE | ID: mdl-16152634

17.

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

Yoshida, Rie; Nagai, Toshiro; Hasegawa, Tomonobu; Kinoshita, Eiichi; Tanaka, Toshiaki; Ogata, Tsutomu.

Am J Med Genet A ; 130A(4): 432-4, 2004 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-15389709

18.

Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, or a new clinical entity?

Kondoh, Tatsuro; Amamoto, Nagisa; Hirota, Tetsuya; Kinoshita, Eiichi; Moriuchi, Hiroyuki; Matsumoto, Tadashi; Shimono, Masayuki; Kawakami, Akihiro; Shirahata, Akira.

Am J Med Genet A ; 120A(3): 437-8, 2003 Jul 30.

Artículo en Inglés | MEDLINE | ID: mdl-12838570

19.

Renal tubular dysgenesis complicated with severe cranium hypoplasia.

Shirakawa, Toshihiko; Kondoh, Tatsuro; Takahashi, Ritsuko; Nakayama, Masahiro; Kusumoto, Takashi; Matsudaira, Munenori; Nakashima, Yumiko; Kinoshita, Eiichi; Miyamoto, Masashi; Masuzaki, Hideaki; Uetani, Masataka; Nazneen, Arifa; Taguchi, Takashi; Moriuchi, Hiroyuki.

Pediatr Int ; 46(1): 88-90, 2004 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-15043673

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