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Items: 14

1.

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. Erratum in: Hum Mol Genet 1998 Aug;7(8):1333.

PMID:
9618165
2.

[From gene to disease; the nail-patella syndrome and the LMX1B gene].

Bongers EM, Knoers NV.

Ned Tijdschr Geneeskd. 2003 Jan 11;147(2):67-9. Review. Dutch.

PMID:
12602071
3.

Nail-patella syndrome. Overview on clinical and molecular findings.

Bongers EM, Gubler MC, Knoers NV.

Pediatr Nephrol. 2002 Sep;17(9):703-12. Epub 2002 Jul 30. Review.

PMID:
12215822
4.

Kidney disease in nail-patella syndrome.

Lemley KV.

Pediatr Nephrol. 2009 Dec;24(12):2345-54. doi: 10.1007/s00467-008-0836-8. Epub 2008 Jun 6. Review.

5.

Nail-patella syndrome and renal involvement. Description of three cases and literature review.

Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R.

Clin Nephrol. 2008 May;69(5):377-82. Review.

PMID:
18538102
6.

Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development.

Dai JX, Johnson RL, Ding YQ.

Dev Growth Differ. 2009 Apr;51(3):241-50. doi: 10.1111/j.1440-169X.2008.01083.x. Epub 2009 Feb 16. Review.

PMID:
19222527
7.

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.

Midro AT, Panasiuk B, Tümer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasów E, Famulski W, Zadrozna-Tołwińska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N.

Am J Med Genet A. 2004 Jan 15;124A(2):179-91. Review.

PMID:
14699618
8.

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M.

Pediatr Nephrol. 2016 Jul 23. [Epub ahead of print] Review.

PMID:
27450397
9.

Nail patella syndrome. A 55-year follow-up of the original description.

Ogden JA, Cross GL, Guidera KJ, Ganey TM.

J Pediatr Orthop B. 2002 Oct;11(4):333-8. Review.

PMID:
12370586
10.

[Skeletal anomalies in nail-patella syndrome. Case report and overview].

Höger PH, Henschel MG.

Hautarzt. 1997 Aug;48(8):581-5. Review. German.

PMID:
9378640
11.

Nail-Patella Syndrome.

Sweeney E, Hoover-Fong JE, McIntosh I.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 May 31 [updated 2014 Nov 13].

12.

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome.

Rizzo R, Pavone L, Micali G, Hall JG.

Clin Genet. 1993 Jul;44(1):1-7. Review.

PMID:
8403448
13.

[How are basement membranes formed?].

Ninomiya Y.

Seikagaku. 2001 Oct;73(10):1234-8. Review. Japanese. No abstract available.

PMID:
11725540
14.

Nail-patella syndrome.

Witzgall R.

Pflugers Arch. 2017 Aug;469(7-8):927-936. doi: 10.1007/s00424-017-2013-z. Epub 2017 Jul 5. Review.

PMID:
28681095

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