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

av Morisada, Naoya, Hamada, Riku, Miura, Kenichiro, Ye, Ming Juan, Nozu, Kandai, Hattori, Motoshi, Iijima, Kazumoto
I publikationen CEN Case Rep (2020)

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

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

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

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

A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy

av Shishido, Ayumi, Morisada, Naoya, Tominaga, Kenta, Uemura, Hiroyasu, Haruna, Akiko, Hanafusa, Hiroaki, Nozu, Kandai, Iijima, Kazumoto
I publikationen Hum Genome Var (2020)

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

av Hibino, Satoshi, Morisada, Naoya, Takeda, Asami, Tanaka, Kazuki, Nozu, Kandai, Yamakawa, Satoshi, Iijima, Kazumoto, Fujita, Naoya
I publikationen Intern Med (2020)

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

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

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

av Iijima, Takashi, Hayami, Noriko, Takaichi, Kenmei, Morisada, Naoya, Nozu, Kandai, Iijima, Kazumoto, Sawa, Naoki, Hoshino, Junichi, Ubara, Yoshifumi
I publikationen 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

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

De novo NSF mutations cause early infantile epileptic encephalopathy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

av 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
I publikationen Mol Cytogenet (2014)

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

av 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
I publikationen Hum Genome Var (2014)