Search Results - "Sangu, Noriko" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

by Shimada, Shino, Shimojima, Keiko, Okamoto, Nobuhiko, Sangu, Noriko, Hirasawa, Kyoko, Matsuo, Mari, Ikeuchi, Mayo, Shimakawa, Shuichi, Shimizu, Kenji, Mizuno, Seiji, Kubota, Masaya, Adachi, Masao, Saito, Yoshiaki, Tomiwa, Kiyotaka, Haginoya, Kazuhiro, Numabe, Hironao, Kako, Yuko, Hayashi, Ai, Sakamoto, Haruko, Hiraki, Yoko, Minami, Koichi, Takemoto, Kiyoshi, Watanabe, Kyoko, Miura, Kiyokuni, Chiyonobu, Tomohiro, Kumada, Tomohiro, Imai, Katsumi, Maegaki, Yoshihiro, Nagata, Satoru, Kosaki, Kenjiro, Izumi, Tatsuro, Nagai, Toshiro, Yamamoto, Toshiyuki
Published in Brain & development (Tokyo. 1979) (01.05.2015)

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An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

by Yamamoto, Toshiyuki, Wilsdon, Anna, Joss, Shelagh, Isidor, Bertrand, Erlandsson, Anna, Suri, Mohnish, Sangu, Noriko, Shimada, Shino, Shimojima, Keiko, Le Caignec, Cédric, Samuelsson, Lena, Stefanova, Margarita
Published in Journal of human genetics (01.06.2014)

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Osteonecrosis of the Jaw during Lenvatinib Therapy: A Case Report Based on Surgical Management

Osteonecrosis of the Jaw during Lenvatinib Therapy: A Case Report Based on Surgical Management

by Udagawa, Gen, Okamoto, Toshihiro, Kaibuchi, Nobuyuki, Sangu, Noriko, Kagawa, Chie, Ando, Tomohiro
Published in Tokyo Women's Medical University Journal (20.12.2019)

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Innsbruck-style Retromandibular Anterior Trans-parotid Approach for Condylar Fractures: A Retrospective Review of 39 Fractures

Innsbruck-style Retromandibular Anterior Trans-parotid Approach for Condylar Fractures: A Retrospective Review of 39 Fractures

by Sasaki, Ryo, Watanabe, Yorikatsu, Miyamoto, Noriko Sangu, Agawa, Kaori, Okamoto, Toshihiro
Published in Plastic and reconstructive surgery. Global open (01.06.2023)

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Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4

by Yamamoto, Toshiyuki, Togawa, Masami, Shimada, Shino, Sangu, Noriko, Shimojima, Keiko, Okamoto, Nobuhiko
Published in American journal of medical genetics. Part A (01.03.2014)

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Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

by Yamamoto, Toshiyuki, Shimojima, Keiko, Sangu, Noriko, Komoike, Yuta, Ishii, Atsushi, Abe, Shinpei, Yamashita, Shintaro, Imai, Katsumi, Kubota, Tetsuo, Fukasawa, Tatsuya, Okanishi, Tohru, Enoki, Hideo, Tanabe, Takuya, Saito, Akira, Furukawa, Toru, Shimizu, Toshiaki, Milligan, Carol J, Petrou, Steven, Heron, Sarah E, Dibbens, Leanne M, Hirose, Shinichi, Okumura, Akihisa
Published in PloS one (20.03.2015)

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A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

by Sangu, Noriko, Shimojima, Keiko, Takahashi, Yuya, Ohashi, Tsukasa, Tohyama, Jun, Yamamoto, Toshiyuki
Published in Human genome variation (09.02.2017)

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Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

by Shimada, Shino, Shimojima, Keiko, Sangu, Noriko, Hoshino, Ai, Hachiya, Yasuo, Ohto, Tatsuyuki, Hashi, Yuichiro, Nishida, Katsuya, Mitani, Maki, Kinjo, Saori, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Morimoto, Masafumi, Yamamoto, Toshiyuki
Published in Brain & development (Tokyo. 1979) (01.11.2015)

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The progress of medication-related osteonecrosis of the jaw with conservative initial treatment: A 12-year retrospective study of 129 patients

The progress of medication-related osteonecrosis of the jaw with conservative initial treatment: A 12-year retrospective study of 129 patients

by Kaibuchi, Nobuyuki, Hoshi, Keika, Yamazaki, Ayame, Miyamoto-Sangu, Noriko, Akagi, Yuichi, Okamoto, Toshihiro
Published in Bone Reports (01.06.2021)

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Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

by Yamamoto, Toshiyuki, Igarashi, Naru, Shimojima, Keiko, Sangu, Noriko, Sakamoto, Yuko, Shimoji, Kazuaki, Niijima, Shinichi
Published in Congenital anomalies (01.03.2016)

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Growth patterns of patients with 1p36 deletion syndrome

Growth patterns of patients with 1p36 deletion syndrome

by Sangu, Noriko, Shimojima, Keiko, Shimada, Shino, Ando, Tomohiro, Yamamoto, Toshiyuki
Published in Congenital anomalies (01.05.2014)

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Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism

Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism

by Sangu, Noriko, Shimosato, Tsuyoshi, Inoda, Hirosato, Shimada, Shino, Shimojima, Keiko, Ando, Tomohiro, Yamamoto, Toshiyuki
Published in Congenital anomalies (01.12.2013)

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Genial Tubercle Fracture

Genial Tubercle Fracture

by Sasaki, Ryo, Okamoto, Toshihiro, Sangu, Noriko, Watanabe, Yorikatsu, Ando, Tomohiro
Published in The Journal of craniofacial surgery (01.01.2019)

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Mandibular Fracture in a Patient Taking a Direct Oral Anticoagulant

Mandibular Fracture in a Patient Taking a Direct Oral Anticoagulant

by Sasaki, Ryo, Okamoto, Toshihiro, Sangu, Noriko Miyamoto, Kudo, Satoshi, Ando, Tomohiro
Published in The Journal of craniofacial surgery (01.06.2021)

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Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

by Sangu, Noriko, Shimojima, Keiko, Akihisa, Okumura, Ando, Tomohiro, Yamamoto, Toshiyuki
Published in Epilepsy research (01.12.2015)

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$Refracture of the Mandibular Condyle in Epilepsy$

Refracture of the Mandibular Condyle in Epilepsy

by Sasaki, Ryo, Miyamoto, Noriko Sangu, Tominaga, Kohei, Okamoto, Toshihiro
Published in Craniomaxillofacial trauma & reconstruction open (2020)

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Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6Mb including PAX6, WT1, and PRRG4

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6Mb including PAX6, WT1, and PRRG4

by Yamamoto, Toshiyuki, Togawa, Masami, Shimada, Shino, Sangu, Noriko, Shimojima, Keiko, Okamoto, Nobuhiko
Published in American journal of medical genetics. Part A (01.03.2014)

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An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

by Shimojima, Keiko, Okamoto, Nobuhiko, Tamasaki, Akiko, Sangu, Noriko, Shimada, Shino, Yamamoto, Toshiyuki
Published in American journal of medical genetics. Part A (01.04.2015)

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A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease

A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease

by Shimojima, Keiko, Tanaka, Ryuta, Shimada, Shino, Sangu, Noriko, Nakayama, Junko, Iwasaki, Nobuaki, Yamamoto, Toshiyuki
Published in Journal of the neurological sciences (15.07.2013)

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Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients

by Yamamoto, Toshiyuki, Shimada, Shino, Shimojima, Keiko, Sangu, Noriko, Ninomiya, Shinsuke, Kubota, Masaya
Published in European journal of medical genetics (01.09.2015)

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