Pesquisa | Portal de Pesquisa da BVS

1.

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.

Suzuki, Hisato; Nozaki, Masatoshi; Yoshihashi, Hiroshi; Imagawa, Kazuo; Kajikawa, Daigo; Yamada, Mamiko; Yamaguchi, Yu; Morisada, Naoya; Eguchi, Mayuko; Ohashi, Shoko; Ninomiya, Shinsuke; Seto, Toshiyuki; Tokutomi, Tomoharu; Hida, Mariko; Toyoshima, Katsuaki; Kondo, Masatoshi; Inui, Ayano; Kurosawa, Kenji; Kosaki, Rika; Ito, Yushi; Okamoto, Nobuhiko; Kosaki, Kenjiro; Takenouchi, Toshiki.

J Pediatr ; 244: 38-48.e1, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35131284

2.

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

Maruwaka, Kaori; Nakajima, Yoko; Yamada, Takaharu; Tanaka, Taihei; Kosaki, Rika; Inagaki, Hidehito; Kosaki, Kenjiro; Kurahashi, Hiroki.

Am J Med Genet A ; 188(7): 2246-2250, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35338599

3.

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.

Shiohama, Tadashi; Fujii, Katsunori; Kosaki, Rika; Watanabe, Yoshimi; Uchida, Tomoko; Hagiwara, Sho; Kinoshita, Kaori; Sugita, Katsuo; Aoki, Yoko; Shimojo, Naoki.

Am J Med Genet A ; 188(12): 3505-3509, 2022 12.

Artigo em Inglês | MEDLINE | ID: mdl-35943247

4.

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

Kaneko, Hideo; Takemoto, Minoru; Murakami, Hiroaki; Ihara, Kenji; Kosaki, Rika; Motegi, Sei-Ichiro; Taniguchi, Akira; Matsuo, Muneaki; Yamazaki, Naoya; Nishigori, Chikako; Takita, Junko; Koshizaka, Masaya; Maezawa, Yoshiro; Yokote, Koutaro.

Pediatr Int ; 64(1): e15120, 2022 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-35616152

5.

Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy.

Ishikawa, Takashi; Tamura, Eiichiro; Kasahara, Mureo; Uchida, Hajime; Higuchi, Masataka; Kobayashi, Hisato; Shimizu, Hirotaka; Ogawa, Eiki; Yotani, Nobuyuki; Irie, Rie; Kosaki, Rika; Kosaki, Kenjiro; Uchiyama, Toru; Onodera, Masafumi; Kawai, Toshinao.

J Clin Immunol ; 41(5): 967-974, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-33544357

6.

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.

Saettini, Francesco; Herriot, Richard; Prada, Elisabetta; Nizon, Mathilde; Zama, Daniele; Marzollo, Antonio; Romaniouk, Igor; Lougaris, Vassilios; Cortesi, Manuela; Morreale, Alessia; Kosaki, Rika; Cardinale, Fabio; Ricci, Silvia; Domínguez-Garrido, Elena; Montin, Davide; Vincent, Marie; Milani, Donatella; Biondi, Andrea; Gervasini, Cristina; Badolato, Raffaele.

J Clin Immunol ; 40(6): 851-860, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32594341

7.

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.

Kosaki, Rika; Kubota, Masaya; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro.

Am J Med Genet A ; 182(7): 1601-1607, 2020 07.

Artigo em Inglês | MEDLINE | ID: mdl-32369273

8.

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.

Kosaki, Rika; Ono, Hiroshi; Terashima, Hiroshi; Kosaki, Kenjiro.

Am J Med Genet A ; 176(7): 1657-1661, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-29736926

9.

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.

Kosaki, Rika; Horikawa, Reiko; Fujii, Eriko; Kosaki, Kenjiro.

Am J Med Genet A ; 176(2): 404-408, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29205794

10.

Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.

Yaga, Takeshi; Iguchi, Akihiro; Nakayama, Robert; Kosaki, Rika; Ishiguro, Akira.

Pediatr Int ; 65(1): e15405, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36321364

11.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Kagami, Masayo; Nagasaki, Keisuke; Kosaki, Rika; Horikawa, Reiko; Naiki, Yasuhiro; Saitoh, Shinji; Tajima, Toshihiro; Yorifuji, Tohru; Numakura, Chikahiko; Mizuno, Seiji; Nakamura, Akie; Matsubara, Keiko; Fukami, Maki; Ogata, Tsutomu.

Genet Med ; 19(12): 1356-1366, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-28640239

12.

The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome.

Sato-Kawano, Nanae; Takemoto, Minoru; Okabe, Emiko; Yokote, Koutaro; Matsuo, Muneaki; Kosaki, Rika; Ihara, Kenji.

J Hum Genet ; 62(12): 1031-1035, 2017 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-28878338

13.

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

Kosaki, Rika; Terashima, Hiroshi; Kubota, Masaya; Kosaki, Kenjiro.

Am J Med Genet A ; 173(1): 250-253, 2017 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-27991732

14.

The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options.

Takahashi, Ken; Sasaki, Aiko; Wada, Seiji; Wada, Yuka; Tsukamoto, Keiko; Kosaki, Rika; Ito, Yushi; Sago, Haruhiko.

Am J Med Genet A ; 173(4): 966-971, 2017 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-28266126

15.

Rubinstein-Taybi syndrome.

Kosaki, Rika.

Nihon Rinsho ; 75(3): 498-503, 2017 Mar.

Artigo em Inglês, Japonês | MEDLINE | ID: mdl-30566799

16.

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Kubo, Akiharu; Shiohama, Aiko; Sasaki, Takashi; Nakabayashi, Kazuhiko; Kawasaki, Hiroshi; Atsugi, Toru; Sato, Showbu; Shimizu, Atsushi; Mikami, Shuji; Tanizaki, Hideaki; Uchiyama, Masaki; Maeda, Tatsuo; Ito, Taisuke; Sakabe, Jun-ichi; Heike, Toshio; Okuyama, Torayuki; Kosaki, Rika; Kosaki, Kenjiro; Kudoh, Jun; Hata, Kenichiro; Umezawa, Akihiro; Tokura, Yoshiki; Ishiko, Akira; Niizeki, Hironori; Kabashima, Kenji; Mitsuhashi, Yoshihiko; Amagai, Masayuki.

Am J Hum Genet ; 93(5): 945-56, 2013 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-24207119

17.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Nakajima, Masahiro; Mizumoto, Shuji; Miyake, Noriko; Kogawa, Ryo; Iida, Aritoshi; Ito, Hironori; Kitoh, Hiroshi; Hirayama, Aya; Mitsubuchi, Hiroshi; Miyazaki, Osamu; Kosaki, Rika; Horikawa, Reiko; Lai, Angeline; Mendoza-Londono, Roberto; Dupuis, Lucie; Chitayat, David; Howard, Andrew; Leal, Gabriela F; Cavalcanti, Denise; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Watanabe, Shigehiko; Lausch, Ekkehart; Unger, Sheila; Bonafé, Luisa; Ohashi, Hirofumi; Superti-Furga, Andrea; Matsumoto, Naomichi; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa, Shiro.

Am J Hum Genet ; 92(6): 927-34, 2013 Jun 06.

Artigo em Inglês | MEDLINE | ID: mdl-23664117

18.

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

Uehara, Daniela Tiaki; Hayashi, Shin; Okamoto, Nobuhiko; Mizuno, Seiji; Chinen, Yasutsugu; Kosaki, Rika; Kosho, Tomoki; Kurosawa, Kenji; Matsumoto, Hiroshi; Mitsubuchi, Hiroshi; Numabe, Hironao; Saitoh, Shinji; Makita, Yoshio; Hata, Akira; Imoto, Issei; Inazawa, Johji.

J Hum Genet ; 61(4): 335-43, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-26740234

19.

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

Ishimaru, Daichi; Gotoh, Masanori; Takayama, Shinichiro; Kosaki, Rika; Matsumoto, Yoshihiro; Narimatsu, Hisashi; Sato, Takashi; Kimata, Koji; Akiyama, Haruhiko; Shimizu, Katsuji; Matsumoto, Kazu.

BMC Genet ; 17: 52, 2016 Mar 09.

Artigo em Inglês | MEDLINE | ID: mdl-26961984

20.

A female newborn having mosaicism with near-tetraploidy and trisomy 18.

Wada, Yuka; Kakiuchi, Satsuki; Mizuguchi, Koichi; Nakamura, Tomoo; Ito, Yushi; Sago, Haruhiko; Kosaki, Rika.

Am J Med Genet A ; 170A(5): 1262-7, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-26789424

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