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Literature DB >> 19169714

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.

Kandai Nozu, Rafal Przybyslaw Krol, Koichi Nakanishi, Norishige Yoshikawa, Yoshimi Nozu, Yasufumi Ohtsuka, Kazumoto Iijima, Masafumi Matsuo.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2009 PMID： 19169714 DOI： 10.1007/s00467-009-1122-0

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

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7 in total

1. Alport syndrome with diffuse leiomyomatosis. When and when not?

Authors: J H Miner
Journal: Am J Pathol Date: 1999-06 Impact factor: 4.307

Review 2. Alport syndrome.

Authors: C E Kashtan; A F Michael
Journal: Kidney Int Date: 1996-11 Impact factor: 10.612

3. Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.

Authors: Kandai Nozu; Rafal Przybyslaw Krol; Yasufumi Ohtsuka; Koichi Nakanishi; Norishige Yoshikawa; Yoshimi Nozu; Hiroshi Kaito; Kyoko Kanda; Yuya Hashimura; Yuhei Hamasaki; Kazumoto Iijima; Masafumi Matsuo
Journal: Pediatr Nephrol Date: 2008-06-27 Impact factor: 3.714

4. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

Authors: K Dahan; L Heidet; J Zhou; G Mettler; K A Leppig; W Proesmans; A David; B Roussel; J G Mongeau; J M Gould
Journal: Kidney Int Date: 1995-12 Impact factor: 10.612

5. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Authors: J M Hertz; I Juncker; N Marcussen
Journal: Clin Genet Date: 2008-06-26 Impact factor: 4.438

6. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.

Authors: K Nozu; T Inagaki; X J Fu; Y Nozu; H Kaito; K Kanda; T Sekine; T Igarashi; K Nakanishi; N Yoshikawa; K Iijima; M Matsuo
Journal: J Med Genet Date: 2008-03 Impact factor: 6.318

7. Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.

Authors: Kandai Nozu; Xue Jun Fu; Koichi Nakanishi; Norishige Yoshikawa; Hiroshi Kaito; Kyoko Kanda; Rafal Przybyslaw Krol; Ritsuko Miyashita; Hidekazu Kamitsuji; Shoichiro Kanda; Yoshiki Hayashi; Kenichi Satomura; Nobuhiko Shimizu; Kazumoto Iijima; Masafumi Matsuo
Journal: Pediatr Res Date: 2007-09 Impact factor: 3.756

7 in total

4 in total

1. Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.

Authors: Kandai Nozu; Shogo Minamikawa; Shiro Yamada; Masafumi Oka; Motoko Yanagita; Naoya Morisada; Shuichiro Fujinaga; China Nagano; Yoshimitsu Gotoh; Eihiko Takahashi; Takahiro Morishita; Tomohiko Yamamura; Takeshi Ninchoji; Hiroshi Kaito; Ichiro Morioka; Koichi Nakanishi; Igor Vorechovsky; Kazumoto Iijima
Journal: J Hum Genet Date: 2017-03-09 Impact factor: 3.172