Literature DB >> 8427057

Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.

M C Gubler1, C Antignac, G Deschênes, B Knebelmann, M C Hors-Cayla, J P Grünfeld, M Broyer, R Habib.   

Abstract

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Year:  1993        PMID： 8427057

Source DB:  PubMed          Journal:  Adv Nephrol Necker Hosp        ISSN： 0084-5957


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  14 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

2.  Genotype-phenotype correlation in X-linked Alport syndrome.

Authors:  Mir Reza Bekheirnia; Berenice Reed; Martin C Gregory; Kim McFann; Alireza Abdollah Shamshirsaz; Amirali Masoumi; Robert W Schrier
Journal:  J Am Soc Nephrol       Date:  2010-04-08       Impact factor: 10.121

3.  Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation.

Authors:  Kazumoto Iijima; Kandai Nozu; Koichi Kamei; Makiko Nakayama; Shuichi Ito; Kentaro Matsuoka; Tsutomu Ogata; Hiroshi Kaito; Koichi Nakanishi; Masafumi Matsuo
Journal:  Pediatr Nephrol       Date:  2010-04-13       Impact factor: 3.714

4.  Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.

Authors:  L Heidet; Y Cai; L Guicharnaud; C Antignac; M C Gubler
Journal:  Am J Pathol       Date:  2000-06       Impact factor: 4.307

5.  Cyclosporin therapy in patients with Alport syndrome.

Authors:  Marina Charbit; Marie-Claire Gubler; Michèle Dechaux; Marie-France Gagnadoux; Jean-Pierre Grünfeld; Patrick Niaudet
Journal:  Pediatr Nephrol       Date:  2006-09-21       Impact factor: 3.714

6.  Gelatinase B (MMP-9) is not essential in the normal kidney and does not influence progression of renal disease in a mouse model of Alport syndrome.

Authors:  K L Andrews; T Betsuyaku; S Rogers; J M Shipley; R M Senior; J H Miner
Journal:  Am J Pathol       Date:  2000-07       Impact factor: 4.307

7.  Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up.

Authors:  Carla Carasi; William G Van't Hoff; Lesley Rees; R Anthony Risdon; Richard S Trompeter; Michael J Dillon
Journal:  Pediatr Nephrol       Date:  2005-06-07       Impact factor: 3.714

8.  Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Authors:  B Knebelmann; C Breillat; L Forestier; C Arrondel; D Jacassier; I Giatras; L Drouot; G Deschênes; J P Grünfeld; M Broyer; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

9.  A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

Authors:  Laurence Heidet; Dorin-Bogdan Borza; Mélanie Jouin; Mireille Sich; Marie-Geneviève Mattei; Yoshikazu Sado; Billy G Hudson; Nicholas Hastie; Corinne Antignac; Marie-Claire Gubler
Journal:  Am J Pathol       Date:  2003-10       Impact factor: 4.307

10.  Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

Authors:  C Antignac; B Knebelmann; L Drouot; F Gros; G Deschênes; M C Hors-Cayla; J Zhou; K Tryggvason; J P Grünfeld; M Broyer
Journal:  J Clin Invest       Date:  1994-03       Impact factor: 14.808
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