138 related articles for article (PubMed ID: 15996164)
1. Nail patella syndrome revisited: 50 years after linkage.
McIntosh I; Dunston JA; Liu L; Hoover-Fong JE; Sweeney E
Ann Hum Genet; 2005 Jul; 69(Pt 4):349-63. PubMed ID: 15996164
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group.
Chatterjee M; Chatterjee C
J Indian Med Assoc; 2010 Nov; 108(11):747-9. PubMed ID: 21510571
[TBL] [Abstract][Full Text] [Related]
4. Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
Melchionda S; Seri M; Carella M; Piemontese MR; Zhang XX; Zelante L; Romeo G; Gasparini P
Eur J Hum Genet; 1998; 6(4):345-9. PubMed ID: 9781042
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [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]
8. Fine mapping of the nail-patella syndrome locus at 9q34.
McIntosh I; Clough MV; Schäffer AA; Puffenberger EG; Horton VK; Peters K; Abbott MH; Roig CM; Cutone S; Ozelius L; Kwiatkowski DJ; Pyeritz RE; Brown LJ; Pauli RM; McCormick MK; Francomano CA
Am J Hum Genet; 1997 Jan; 60(1):133-42. PubMed ID: 8981956
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
Marini M; Bongers EM; Cusano R; Di Duca M; Seri M; Knoers NV; Ravazzolo R
Int J Mol Med; 2003 Jul; 12(1):79-82. PubMed ID: 12792813
[TBL] [Abstract][Full Text] [Related]
12. Nail-patella syndrome: report of 11 pediatric cases.
Figueroa-Silva O; Vicente A; Agudo A; Baliu-Piqué C; Gómez-Armayones S; Aldunce-Soto MJ; Inarejos Clemente EJ; Navallas Irujo M; Gutiérrez de la Iglesia D; González-Enseñat MA
J Eur Acad Dermatol Venereol; 2016 Sep; 30(9):1614-7. PubMed ID: 27109743
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Arthropathy and proteinuria: nail-patella syndrome revisited.
Albishri J
Ger Med Sci; 2014; 12():Doc16. PubMed ID: 25408626
[TBL] [Abstract][Full Text] [Related]
15. Assignment of the AK1:Np:ABO linkage group to human chromosome 9.
Westerveld A; Jongsma AP; Meera Khan P; van Someren H; Bootsma D
Proc Natl Acad Sci U S A; 1976 Mar; 73(3):895-9. PubMed ID: 176661
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. 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]
18. Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier.
Duba HC; Erdel M; Löffler J; Wirth J; Utermann B; Utermann G
Eur J Hum Genet; 1998 Jan; 6(1):75-9. PubMed ID: 9781017
[TBL] [Abstract][Full Text] [Related]
19. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
Clough MV; Hamlington JD; McIntosh I
Hum Mutat; 1999; 14(6):459-65. PubMed ID: 10571942
[TBL] [Abstract][Full Text] [Related]
20. Schizophrenia and Nail Patella Syndrome: The Dopamine Connection.
Nashelsky Zolotov L; Reinstein E
Isr Med Assoc J; 2018 Aug; 20(8):496-498. PubMed ID: 30084575
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
