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Journal Abstract Search

199 related items for PubMed ID: 24042019

  • 21. 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
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  • 22. A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.
    Yan X, Lin J, Wang Y, Xuan J, Yu P, Guo T, Jin F.
    BMC Med Genet; 2019 May 03; 20(1):71. PubMed ID: 31053111
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  • 24. Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
    Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L.
    Eur J Hum Genet; 2018 Nov 03; 26(11):1708-1712. PubMed ID: 29973660
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  • 30. LMX1B mutations cause hereditary FSGS without extrarenal involvement.
    Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C.
    J Am Soc Nephrol; 2013 Jul 03; 24(8):1216-22. PubMed ID: 23687361
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  • 31. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
    Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV.
    Eur J Hum Genet; 2008 Oct 03; 16(10):1240-4. PubMed ID: 18414507
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  • 32. 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 03; 13(8):935-46. PubMed ID: 15928687
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  • 34. LMX1B-associated nephropathy that showed myelin figures on electron microscopy.
    Shimohata H, Miyake Y, Yoshida Y, Usui J, Mori T, Sohara E, Uchida S, Hirayama K, Kobayashi M.
    CEN Case Rep; 2021 Nov 03; 10(4):588-591. PubMed ID: 34076843
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  • 35. Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
    Lindelöf H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjö A.
    Front Endocrinol (Lausanne); 2022 Nov 03; 13():862908. PubMed ID: 35769074
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  • 36. Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.
    Kraus J, Jahngir MU, Singh B, Qureshi AI.
    Vasc Endovascular Surg; 2020 Feb 03; 54(2):175-181. PubMed ID: 31746280
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  • 37. LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys.
    Burghardt T, Kastner J, Suleiman H, Rivera-Milla E, Stepanova N, Lottaz C, Kubitza M, Böger CA, Schmidt S, Gorski M, de Vries U, Schmidt H, Hertting I, Kopp J, Rascle A, Moser M, Heid IM, Warth R, Spang R, Wegener J, Mierke CT, Englert C, Witzgall R.
    J Am Soc Nephrol; 2013 Nov 03; 24(11):1830-48. PubMed ID: 23990680
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  • 38. 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 03; 11(9):1762-1766. PubMed ID: 10966502
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  • 39. 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 03; 7(7):1091-8. PubMed ID: 9618165
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  • 40. Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
    Lei L, Oh G, Sutherland S, Abra G, Higgins J, Sibley R, Troxell M, Kambham N.
    Pediatr Nephrol; 2020 Sep 03; 35(9):1647-1657. PubMed ID: 32356190
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