| 1 | LMX1B, NPS1
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| Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
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| Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV.
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| Eur J Hum Genet 16(10):1240-4. Epub 2008 Apr 16.
2008
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| 2 | NPS1, LMX1B, NR5A1
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| Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome.
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| Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.
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| Am J Med Genet A 143(10):1071-81. 2007
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| 3 | LMX1B, NPS1
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| Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
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| Millá E, Hernan I, Gamundi MJ, Martínez-Gimeno M, Carballo M.
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| Mol Vis 13:639-48.
2007
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| 4 | NPS1, LMX1B
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| A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
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| Dunston JA, Reimschisel T, Ding YQ, Sweeney E, Johnson RL, Chen ZF, McIntosh I.
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| Eur J Hum Genet 13(3):330-5. 2005
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| 5 | LMX1B, NPS1
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| Functional Characterization of LMX1B Mutations Associated with Nail-Patella Syndrome.
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| Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T.
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| Pediatr Res 57(6):783-8. Epub 2005 Mar 17. 2005
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| 6 | PAX2, LMX1B, NPS1
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| Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
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| Marini M, Giacopelli F, Seri M, Ravazzolo R.
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| Eur J Hum Genet 13(6):789-92. 2005
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| 7 | NPS1
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| Nail patella syndrome revisited: 50 years after linkage.
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| McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E.
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| Ann Hum Genet 69(Pt 4):349-63. 2005
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| 8 | NPS1, LMX1B
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| Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
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| 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.
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| Eur J Hum Genet 13(8):935-46. 2005
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| 9 | NPS1, PTLAH, DSBQS, LRS1, EDM2, EDM4
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| Human syndromes with congenital patellar anomalies and the underlying gene defects.
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| Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.
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| Clin Genet 68(4):302-19. 2005
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| 10 | LMX1B, NPS1
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| The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
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| Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I.
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| Genomics 84(3):565-76. 2004
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| 11 | DEL9Q22, PTCH1, ROR2, NPS1
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| Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
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| Midro AT, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasow E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N.
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| Am J Med Genet A 124(2):179-91. Review. 2004
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| 12 | LMX1B, NPS1
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| In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.
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| Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC.
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| Am J Pathol 163(1):145-55. 2003
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| 13 | LMX1B, NPS1, NPHS2
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| The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
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| Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, Antignac C, Witzgall R.
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| J Clin Invest 109(8):1073-82. 2002
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| 14 | NPS1
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| The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death.
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| Putaala H, Soininen R, Kilpelainen P, Wartiovaara J, Tryggvason K.
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| Hum Mol Genet 10(1):1-8. 2001
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| 15 | LMX1B, NPS1
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| Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
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| Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B.
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| Nat Genet 27(2):205-8. 2001
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| 16 | LDB1, LMX1B, NPS1
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| LMX1B transactivation and expression in nail-patella syndrome.
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| Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B.
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| Hum Mol Genet 9(7):1067-74. 2000
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| 17 | LMX1B, NPS1
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| Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
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| Knoers NV, Bongers EM, van Beersum SE, Lommen EJ, van Bokhoven H, Hol FA.
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| J Am Soc Nephrol 11(9):1762-6. 2000
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| 18 | NPS1
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| Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
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| Silahtaroglu A, et al.
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| Eur J Hum Genet 7(1):68-76. 1999
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| 19 | LMX1B, NPS1
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| Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
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| Seri M, et al.
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| Int J Mol Med 4(3):285-90 1999
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| 20 | LMX1B, NPS1
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| Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
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| Clough MV, Hamlington JD, McIntosh I.
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| Hum Mutat 14(6):459-65 1999
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| 21 | NPS1
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| Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier.
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| Duba HC, et al.
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| Eur J Hum Genet 6 : 75-79. 1998
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| 22 | LMX1B, NPS1
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| Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
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| Dreyer SD, et al.
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| Nat Genet 19 : 47-50. 1998
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| 23 | LMX1B, NPS1
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| Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.
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| Chen H, et al.
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| Nat Genet 19 : 51-55. 1998
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| 24 | LMX1B, NPS1
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| Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
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| Vollrath D, et al.
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| Hum Mol Genet 7 : 1091-1098. 1998
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| 25 | NPS1
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| Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
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| Melchionda S, Seri M, Carella M, Piemontese MR, Zhang XX, Zelante L, Romeo G, Gasparini P.
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| Eur J Hum Genet 6(4):345-9. 1998
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| 26 | LMX1B, NPS1
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| Mutation analysis of LMX1B gene in Nail-Patella syndrome patients.
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| 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.
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| Am J Hum Genet 63 : 1651-1658. 1998
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| 27 | LMX1B, NPS1
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| Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
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| Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE.
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| Hum Mol Genet 7(7):1091-8. Erratum in: Hum Mol Genet 1998 Aug;7(8):1333.
1998
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| 28 | NPS1
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| Fine mapping of the nail-patella syndrome locus at 9q34.
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| McIntosh I, et al.
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| Am J Hum Genet 60 : 133-142. 1997
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| 29 | NPS1
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| Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier with a boy with 9q34 syndrome. (abstr)
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| Duba HC, et al.
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| Medizinische Genetik 9 : 27. 1997
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| 30 | NPS1
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| Linkage analysis of the Nail-Patella syndrome.
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| Campeau E, et al.
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| Am J Hum Genet 56 : 243-247. 1995
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| 31 | NPS1, GFDHL
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| Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?
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| Ghiggeri GM, et al.
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| Hum Genet 91 : 175-177. 1993
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| 32 | AK1, NPS1, ABO, ACO1, AK3
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| Segregation of ABO, AK1 and ACONs in families with abnormalities of chromosome 9.
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| Cook PJL, et al.
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| Ann Hum Genet 41 : 365-377. 1978
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| 33 | ABO, AK1, AK3, NPS1
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| Family studies on chromosome 9.
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| Cook PJL, et al.
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| Cytogenet Cell Genet 16 : 284-288. 1976
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