160 related articles for article (PubMed ID: 12784310)
1. Alport syndrome with diffuse leiomyomatosis.
Anker MC; Arnemann J; Neumann K; Ahrens P; Schmidt H; König R
Am J Med Genet A; 2003 Jun; 119A(3):381-5. PubMed ID: 12784310
[TBL] [Abstract][Full Text] [Related]
2. Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
Nozu K; Minamikawa S; Yamada S; Oka M; Yanagita M; Morisada N; Fujinaga S; Nagano C; Gotoh Y; Takahashi E; Morishita T; Yamamura T; Ninchoji T; Kaito H; Morioka I; Nakanishi K; Vorechovsky I; Iijima K
J Hum Genet; 2017 Jul; 62(7):733-735. PubMed ID: 28275241
[TBL] [Abstract][Full Text] [Related]
3. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ; Fieremans N; de Brouwer AP; Sousa R; e Costa FT; Brito MJ; Carvalho F; Rodrigues M; de Sousa FT; Felgueiras J; Neves F; Carvalho A; Ramos U; Vizcaíno JR; Alves S; Carvalho F; Froyen G; Oliveira JP
J Med Genet; 2013 Nov; 50(11):745-53. PubMed ID: 23958657
[TBL] [Abstract][Full Text] [Related]
4. Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.
Mothes H; Heidet L; Arrondel C; Richter KK; Thiele M; Patzer L; Sado Y; Gubler MC; Antignac C; Scheele J
Nephrol Dial Transplant; 2002 Jan; 17(1):70-4. PubMed ID: 11773466
[TBL] [Abstract][Full Text] [Related]
5. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth.
Thielen BK; Barker DF; Nelson RD; Zhou J; Kren SM; Segal Y
Hum Mutat; 2003 Nov; 22(5):419. PubMed ID: 14517961
[TBL] [Abstract][Full Text] [Related]
6. A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: genetic analysis of COL4A5 to COL4A6 and immunostaining for type IV collagen subtypes.
Sugimoto K; Yanagida H; Yagi K; Kuwajima H; Okada M; Takemura T
Clin Nephrol; 2005 Aug; 64(2):144-50. PubMed ID: 16114791
[TBL] [Abstract][Full Text] [Related]
7. Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
Ueki Y; Naito I; Oohashi T; Sugimoto M; Seki T; Yoshioka H; Sado Y; Sato H; Sawai T; Sasaki F; Matsuoka M; Fukuda S; Ninomiya Y
Am J Hum Genet; 1998 Feb; 62(2):253-61. PubMed ID: 9463311
[TBL] [Abstract][Full Text] [Related]
8. Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
Uliana V; Marcocci E; Mucciolo M; Meloni I; Izzi C; Manno C; Bruttini M; Mari F; Scolari F; Renieri A; Salviati L
Pediatr Nephrol; 2011 May; 26(5):717-24. PubMed ID: 21380622
[TBL] [Abstract][Full Text] [Related]
9. Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.
Garcia-Torres R; Cruz D; Orozco L; Heidet L; Gubler MC
Nephrologie; 2000; 21(1):9-12. PubMed ID: 10730274
[TBL] [Abstract][Full Text] [Related]
10. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
Renieri A; Bassi MT; Galli L; Zhou J; Giani M; De Marchi M; Ballabio A
Hum Mutat; 1994; 4(3):195-8. PubMed ID: 7833948
[TBL] [Abstract][Full Text] [Related]
11. Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
Heidet L; Dahan K; Zhou J; Xu Z; Cochat P; Gould JD; Leppig KA; Proesmans W; Guyot C; Guillot M
Hum Mol Genet; 1995 Jan; 4(1):99-108. PubMed ID: 7711741
[TBL] [Abstract][Full Text] [Related]
12. Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
Oohashi T; Naito I; Ueki Y; Yamatsuji T; Permpoon R; Tanaka N; Naomoto Y; Ninomiya Y
Matrix Biol; 2011 Jan; 30(1):3-8. PubMed ID: 20951201
[TBL] [Abstract][Full Text] [Related]
13. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.
Dahan K; Heidet L; Zhou J; Mettler G; Leppig KA; Proesmans W; David A; Roussel B; Mongeau JG; Gould JM
Kidney Int; 1995 Dec; 48(6):1900-6. PubMed ID: 8587250
[TBL] [Abstract][Full Text] [Related]
14. An unusual cause of pseudoachalasia: the Alport syndrome-diffuse leiomyomatosis association.
Sousa RG; Figueiredo PC; Pinto-Marques P; Meira T; Novais LA; Vieira AI; Luz C; Borralho P; Freitas J
Eur J Gastroenterol Hepatol; 2013 Nov; 25(11):1352-7. PubMed ID: 23765124
[TBL] [Abstract][Full Text] [Related]
15. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
16. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
Heidet L; Cohen-Solal L; Boye E; Thorner P; Kemper MJ; David A; Larget Piet L; Zhou J; Flinter F; Zhang X; Gubler MC; Antignac C
Cytogenet Cell Genet; 1997; 78(3-4):240-6. PubMed ID: 9465897
[TBL] [Abstract][Full Text] [Related]
17. Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
Liu W; Wong JK; He Q; Wong EH; Tang CS; Zhang R; So MT; Wong KK; Nicholls J; Cherny SS; Sham PC; Tam PK; Garcia-Barcelo MM; Xia H
BMC Med Genet; 2015 Jul; 16():49. PubMed ID: 26179878
[TBL] [Abstract][Full Text] [Related]
18. Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.
Heidet L; Cai Y; Sado Y; Ninomiya Y; Thorner P; Guicharnaud L; Boye E; Chauvet V; Solal LC; Beziau A; Torres RG; Antignac C; Gubler MC
Lab Invest; 1997 Feb; 76(2):233-43. PubMed ID: 9042160
[TBL] [Abstract][Full Text] [Related]
19. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.
Zheng K; Harvey S; Sado Y; Naito I; Ninomiya Y; Jacobs R; Thorner PS
Am J Pathol; 1999 Jun; 154(6):1883-91. PubMed ID: 10362815
[TBL] [Abstract][Full Text] [Related]
20. [Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases].
Le Bras A; David A; Knipping M; Mensier A; Heidet L; Lopes P
J Gynecol Obstet Biol Reprod (Paris); 1998 Sep; 27(5):523-8. PubMed ID: 9791580
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]