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

Yazar: Morisada, Naoya, Hamada, Riku, Miura, Kenichiro, Ye, Ming Juan, Nozu, Kandai, Hattori, Motoshi, Iijima, Kazumoto
Yayımlandı CEN Case Rep (2020)

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

Yazar: Iwafuchi, Yoichi, Morioka, Tetsuo, Morita, Takashi, Yanagihara, Toshio, Oyama, Yuko, Morisada, Naoya, Iijima, Kazumoto, Narita, Ichiei
Yayımlandı Case Rep Nephrol Dial (2016)

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

Yazar: Morisada, Naoya, Ioroi, Tomoaki, Taniguchi-Ikeda, Mariko, Juan Ye, Ming, Okamoto, Nobuhiko, Yamamoto, Toshiyuki, Iijima, Kazumoto
Yayımlandı Hum Genome Var (2016)

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

Yazar: Shishido, Ayumi, Morisada, Naoya, Tominaga, Kenta, Uemura, Hiroyasu, Haruna, Akiko, Hanafusa, Hiroaki, Nozu, Kandai, Iijima, Kazumoto
Yayımlandı Hum Genome Var (2020)

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

Yazar: Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya
Yayımlandı Intern Med (2020)

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

Yazar: Tanaka, Yu, Morisada, Naoya, Suzuki, Tomohiro, Ohashi, Yoshitaka, Ye, Ming Juan, Nozu, Kandai, Tsuruta, Satoru, Iijima, Kazumoto
Yayımlandı CEN Case Rep (2020)

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

Yazar: Iijima, Takashi, Hayami, Noriko, Takaichi, Kenmei, Morisada, Naoya, Nozu, Kandai, Iijima, Kazumoto, Sawa, Naoki, Hoshino, Junichi, Ubara, Yoshifumi
Yayımlandı 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

Yazar: Saida, Ken, Kamei, Koichi, Morisada, Naoya, Ogura, Masao, Ogata, Kentaro, Matsuoka, Kentaro, Nozu, Kandai, Iijima, Kazumoto, Ito, Shuichi
Yayımlandı CEN Case Rep (2019)

De novo NSF mutations cause early infantile epileptic encephalopathy

Yazar: Suzuki, Hisato, Yoshida, Takeshi, Morisada, Naoya, Uehara, Tomoko, Kosaki, Kenjiro, Sato, Katsunori, Matsubara, Kohei, Takano‐Shimizu, Toshiyuki, Takenouchi, Toshiki
Yayımlandı Ann Clin Transl Neurol (2019)

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

Yazar: Araki, Yoshinori, Kawaguchi, Azusa, Sakakibara, Nana, Nagaoka, Yoshinobu, Yamamura, Tomohiko, Horinouchi, Tomoko, Nagano, China, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Yayımlandı CEN Case Rep (2020)

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

Yazar: Horiuchi, Kentaro, Kogiso, Tomomi, Sagawa, Takaomi, Ito, Taito, Taniai, Makiko, Miura, Kenichiro, Hattori, Motoshi, Morisada, Naoya, Hashimoto, Etsuko, Tokushige, Katsutoshi
Yayımlandı Intern Med (2020)

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

Yazar: Oba, Yuki, Sawa, Naoki, Mizuno, Hiroki, Hoshino, Junichi, Kinowaki, Keiichi, Ohashi, Kenichi, Morisada, Naoya, Iijima, Kazumoto, Yamaguchi, Yutaka, Ubara, Yoshifumi
Yayımlandı Kidney Med (2020)

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

Yazar: Hanafusa, Hiroaki, Morisada, Naoya, Nomura, Tadashi, Kobayashi, Daisuke, Akasaka, Yoshinobu, Ye, Ming Juan, Nozu, Kandai, Nishimura, Noriyuki, Iijima, Kazumoto, Nakao, Hideto
Yayımlandı Hum Genome Var (2019)

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

Yazar: Ohara, Yasuko, Okada, Yuko, Yamada, Tomoko, Sugawara, Kenji, Kanatani, Masayuki, Fukuoka, Hidenori, Hirota, Yushi, Maeda, Takaki, Morisada, Naoya, Iijima, Kazumoto, Ogawa, Wataru
Yayımlandı J Diabetes Investig (2019)

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

Yazar: Hanafusa, Hiroaki, Morisada, Naoya, Ishida, Yusuke, Sakata, Ryosuke, Morita, Keiichi, Miura, Shizu, Ye, Ming Juan, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Nozu, Kandai, Iijima, Kazumoto
Yayımlandı 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]...

Yazar: Harahap, Nur Imma Fatimah, Nurputra, Dian Kesumapramudya, Ar Rochmah, Mawaddah, Shima, Ai, Morisada, Naoya, Takarada, Toru, Takeuchi, Atsuko, Tohyama, Yumi, Yanagisawa, Shinichiro, Nishio, Hisahide
Yayımlandı Biochem Biophys Rep (2015)

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

Yazar: Harahap, Nur Imma Fatimah, Nurputra, Dian Kesumapramudya, Ar Rochmah, Mawaddah, Shima, Ai, Morisada, Naoya, Takarada, Toru, Takeuchi, Atsuko, Tohyama, Yumi, Yanagisawa, Shinichiro, Nishio, Hisahide
Yayımlandı 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

Yazar: Aoto, Yuya, Kise, Tomoo, Nakanishi, Koichi, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Yayımlandı CEN Case Rep (2020)

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

Yazar: 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
Yayımlandı Mol Cytogenet (2014)

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

Yazar: 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
Yayımlandı Hum Genome Var (2014)