173 related articles for article (PubMed ID: 19194568)
1. Clinico-genetic study of nail-patella syndrome.
Lee BH; Cho TJ; Choi HJ; Kang HK; Lim IS; Park YH; Ha IS; Choi Y; Cheong HI
J Korean Med Sci; 2009 Jan; 24 Suppl(Suppl 1):S82-6. PubMed ID: 19194568
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Bongers EM; Huysmans FT; Levtchenko E; de Rooy JW; Blickman JG; Admiraal RJ; Huygen PL; Cruysberg JR; Toolens PA; Prins JB; Krabbe PF; Borm GF; Schoots J; van Bokhoven H; van Remortele AM; Hoefsloot LH; van Kampen A; Knoers NV
Eur J Hum Genet; 2005 Aug; 13(8):935-46. PubMed ID: 15928687
[TBL] [Abstract][Full Text] [Related]
3. Nail-patella syndrome. Overview on clinical and molecular findings.
Bongers EM; Gubler MC; Knoers NV
Pediatr Nephrol; 2002 Sep; 17(9):703-12. PubMed ID: 12215822
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Harita Y; Kitanaka S; Isojima T; Ashida A; Hattori M
Pediatr Nephrol; 2017 Oct; 32(10):1845-1850. PubMed ID: 27450397
[TBL] [Abstract][Full Text] [Related]
5. Functional characterization of LMX1B mutations associated with nail-patella syndrome.
Sato U; Kitanaka S; Sekine T; Takahashi S; Ashida A; Igarashi T
Pediatr Res; 2005 Jun; 57(6):783-8. PubMed ID: 15774843
[TBL] [Abstract][Full Text] [Related]
6. [From gene to disease; the nail-patella syndrome and the LMX1B gene].
Bongers EM; Knoers NV
Ned Tijdschr Geneeskd; 2003 Jan; 147(2):67-9. PubMed ID: 12602071
[TBL] [Abstract][Full Text] [Related]
7. Nail patella syndrome: a review of the phenotype aided by developmental biology.
Sweeney E; Fryer A; Mountford R; Green A; McIntosh I
J Med Genet; 2003 Mar; 40(3):153-62. PubMed ID: 12624132
[TBL] [Abstract][Full Text] [Related]
8. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
Vollrath D; Jaramillo-Babb VL; Clough MV; McIntosh I; Scott KM; Lichter PR; Richards JE
Hum Mol Genet; 1998 Jul; 7(7):1091-8. PubMed ID: 9618165
[TBL] [Abstract][Full Text] [Related]
9. Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
Knoers NVAM; Bongers EMHF; Beersum SECV; Lommen EJP; Bokhoven HV; Hol FA
J Am Soc Nephrol; 2000 Sep; 11(9):1762-1766. PubMed ID: 10966502
[TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y; Urae S; Akashio R; Isojima T; Miura K; Yamada T; Yamamoto K; Miyasaka Y; Furuyama M; Takemura T; Gotoh Y; Takizawa H; Tamagaki K; Ozawa A; Ashida A; Hattori M; Oka A; Kitanaka S
Eur J Hum Genet; 2020 Oct; 28(10):1414-1421. PubMed ID: 32457516
[TBL] [Abstract][Full Text] [Related]
11. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T; Ishida R; Mihara Y; Fujii A; Inoue Y; Kusaba T; Isojima T; Harita Y; Kanda C; Kitanaka S; Tamagaki K
BMC Nephrol; 2017 Mar; 18(1):100. PubMed ID: 28335748
[TBL] [Abstract][Full Text] [Related]
12. A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
Ham JH; Shin SJ; Joo KR; Park SM; Sung HY; Kim JS; Choi JS; Choi YJ; Song HC; Choi EJ
Korean J Intern Med; 2009 Sep; 24(3):274-8. PubMed ID: 19721866
[TBL] [Abstract][Full Text] [Related]
13. [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
Szczałuba K; Obersztyn E; Kozłowski K; Ravazzolo R; Gołabek B; Mazurczak T
Med Wieku Rozwoj; 2005; 9(2):195-203. PubMed ID: 16085960
[TBL] [Abstract][Full Text] [Related]
14. Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
Seri M; Melchionda S; Dreyer S; Marini M; Carella M; Cusano R; Piemontese MR; Caroli F; Silengo M; Zelante L; Romeo G; Ravazzolo R; Gasparini P; Lee B
Int J Mol Med; 1999 Sep; 4(3):285-90. PubMed ID: 10425280
[TBL] [Abstract][Full Text] [Related]
15. Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
Ghoumid J; Petit F; Holder-Espinasse M; Jourdain AS; Guerra J; Dieux-Coeslier A; Figeac M; Porchet N; Manouvrier-Hanu S; Escande F
Eur J Hum Genet; 2016 Jan; 24(1):44-50. PubMed ID: 25898926
[TBL] [Abstract][Full Text] [Related]
16. Nail-patella syndrome and its association with glaucoma: a review of eight families.
Mimiwati Z; Mackey DA; Craig JE; Mackinnon JR; Rait JL; Liebelt JE; Ayala-Lugo R; Vollrath D; Richards JE
Br J Ophthalmol; 2006 Dec; 90(12):1505-9. PubMed ID: 16825280
[TBL] [Abstract][Full Text] [Related]
17. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Marini M; Bocciardi R; Gimelli S; Di Duca M; Divizia MT; Baban A; Gaspar H; Mammi I; Garavelli L; Cerone R; Emma F; Bedeschi MF; Tenconi R; Sensi A; Salmaggi A; Bengala M; Mari F; Colussi G; Szczaluba K; Antonarakis SE; Seri M; Lerone M; Ravazzolo R
Genet Med; 2010 Jul; 12(7):431-9. PubMed ID: 20531206
[TBL] [Abstract][Full Text] [Related]
18. [The nail-patella syndrome: rare genetically determined cause of proteinuria].
Zarzecki M; Nieszporek T; Chudek J; Wiecek A
Pol Arch Med Wewn; 2006 Dec; 116(6):1192-9. PubMed ID: 18634531
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh I; Dreyer SD; Clough MV; Dunston JA; Eyaid W; Roig CM; Montgomery T; Ala-Mello S; Kaitila I; Winterpacht A; Zabel B; Frydman M; Cole WG; Francomano CA; Lee B
Am J Hum Genet; 1998 Dec; 63(6):1651-8. PubMed ID: 9837817
[TBL] [Abstract][Full Text] [Related]
20. c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.
Romero P; Sanhueza F; Lopez P; Reyes L; Herrera L
Mol Vis; 2011; 17():1929-39. PubMed ID: 21850167
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
