Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

Por Morisada, Naoya, Hamada, Riku, Miura, Kenichiro, Ye, Ming Juan, Nozu, Kandai, Hattori, Motoshi, Iijima, Kazumoto
Publicado no CEN Case Rep (2020)

Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2

Por Iwafuchi, Yoichi, Morioka, Tetsuo, Morita, Takashi, Yanagihara, Toshio, Oyama, Yuko, Morisada, Naoya, Iijima, Kazumoto, Narita, Ichiei
Publicado no Case Rep Nephrol Dial (2016)

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

Por Morisada, Naoya, Ioroi, Tomoaki, Taniguchi-Ikeda, Mariko, Juan Ye, Ming, Okamoto, Nobuhiko, Yamamoto, Toshiyuki, Iijima, Kazumoto
Publicado no Hum Genome Var (2016)

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

Por Shishido, Ayumi, Morisada, Naoya, Tominaga, Kenta, Uemura, Hiroyasu, Haruna, Akiko, Hanafusa, Hiroaki, Nozu, Kandai, Iijima, Kazumoto
Publicado no Hum Genome Var (2020)

Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B

Por Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya
Publicado no Intern Med (2020)

A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome

Por Tanaka, Yu, Morisada, Naoya, Suzuki, Tomohiro, Ohashi, Yoshitaka, Ye, Ming Juan, Nozu, Kandai, Tsuruta, Satoru, Iijima, Kazumoto
Publicado no CEN Case Rep (2020)

An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns

Por Iijima, Takashi, Hayami, Noriko, Takaichi, Kenmei, Morisada, Naoya, Nozu, Kandai, Iijima, Kazumoto, Sawa, Naoki, Hoshino, Junichi, Ubara, Yoshifumi
Publicado no Intern Med (2019)

A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease

Por Saida, Ken, Kamei, Koichi, Morisada, Naoya, Ogura, Masao, Ogata, Kentaro, Matsuoka, Kentaro, Nozu, Kandai, Iijima, Kazumoto, Ito, Shuichi
Publicado no CEN Case Rep (2019)

De novo NSF mutations cause early infantile epileptic encephalopathy

Por Suzuki, Hisato, Yoshida, Takeshi, Morisada, Naoya, Uehara, Tomoko, Kosaki, Kenjiro, Sato, Katsunori, Matsubara, Kohei, Takano‐Shimizu, Toshiyuki, Takenouchi, Toshiki
Publicado no Ann Clin Transl Neurol (2019)

Poststreptococcal acute glomerulonephritis can be a risk factor for accelerating kidney dysfunction in Alport syndrome: a case experience

Por Araki, Yoshinori, Kawaguchi, Azusa, Sakakibara, Nana, Nagaoka, Yoshinobu, Yamamura, Tomohiko, Horinouchi, Tomoko, Nagano, China, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Publicado no CEN Case Rep (2020)

Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis

Por Horiuchi, Kentaro, Kogiso, Tomomi, Sagawa, Takaomi, Ito, Taito, Taniai, Makiko, Miura, Kenichiro, Hattori, Motoshi, Morisada, Naoya, Hashimoto, Etsuko, Tokushige, Katsutoshi
Publicado no Intern Med (2020)

Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy

Por Oba, Yuki, Sawa, Naoki, Mizuno, Hiroki, Hoshino, Junichi, Kinowaki, Keiichi, Ohashi, Kenichi, Morisada, Naoya, Iijima, Kazumoto, Yamaguchi, Yutaka, Ubara, Yoshifumi
Publicado no Kidney Med (2020)

A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis

Por Hanafusa, Hiroaki, Morisada, Naoya, Nomura, Tadashi, Kobayashi, Daisuke, Akasaka, Yoshinobu, Ye, Ming Juan, Nozu, Kandai, Nishimura, Noriyuki, Iijima, Kazumoto, Nakao, Hideto
Publicado no Hum Genome Var (2019)

Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5

Por Ohara, Yasuko, Okada, Yuko, Yamada, Tomoko, Sugawara, Kenji, Kanatani, Masayuki, Fukuoka, Hidenori, Hirota, Yushi, Maeda, Takaki, Morisada, Naoya, Iijima, Kazumoto, Ogawa, Wataru
Publicado no J Diabetes Investig (2019)

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features

Por Hanafusa, Hiroaki, Morisada, Naoya, Ishida, Yusuke, Sakata, Ryosuke, Morita, Keiichi, Miura, Shizu, Ye, Ming Juan, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Nozu, Kandai, Iijima, Kazumoto
Publicado no Hum Genome Var (2017)

Corrigendum to: ‘‘Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells’’ [Biochem. Biophys. Rep. 4 (2015) 351–356]...

Por Harahap, Nur Imma Fatimah, Nurputra, Dian Kesumapramudya, Ar Rochmah, Mawaddah, Shima, Ai, Morisada, Naoya, Takarada, Toru, Takeuchi, Atsuko, Tohyama, Yumi, Yanagisawa, Shinichiro, Nishio, Hisahide
Publicado no Biochem Biophys Rep (2015)

Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells

Por Harahap, Nur Imma Fatimah, Nurputra, Dian Kesumapramudya, Ar Rochmah, Mawaddah, Shima, Ai, Morisada, Naoya, Takarada, Toru, Takeuchi, Atsuko, Tohyama, Yumi, Yanagisawa, Shinichiro, Nishio, Hisahide
Publicado no Biochem Biophys Rep (2015)

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome

Por Aoto, Yuya, Kise, Tomoo, Nakanishi, Koichi, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Publicado no CEN Case Rep (2020)

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

Por Mishra, Divya, Kato, Takema, Inagaki, Hidehito, Kosho, Tomoki, Wakui, Keiko, Kido, Yasuhiro, Sakazume, Satoru, Taniguchi-Ikeda, Mariko, Morisada, Naoya, Iijima, Kazumoto, Fukushima, Yoshimitsu, Emanuel, Beverly S, Kurahashi, Hiroki
Publicado no Mol Cytogenet (2014)

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

Por Fu, Xue J, Morisada, Naoya, Hashimoto, Fusako, Taniguchi-Ikeda, Mariko, Hashimura, Yuya, Ohtsubo, Hiromi, Ninchoji, Takeshi, Kaito, Hiroshi, Nozu, Kandai, Takahashi, Eihiko, Nakanishi, Koichi, Kurahashi, Hiroki, Iijima, Kazumoto
Publicado no Hum Genome Var (2014)