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2025

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1967 1
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1989 5
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1998 1
1999 1
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2001 5
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2005 4
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2025 0

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75 results

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Page 1
Nail-patella syndrome.
Witzgall R. Witzgall R. Pflugers Arch. 2017 Aug;469(7-8):927-936. doi: 10.1007/s00424-017-2013-z. Epub 2017 Jul 5. Pflugers Arch. 2017. PMID: 28681095 Review.
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. ...Accordingly, kidney biopsies of patients with nail-patella syndrome show an altered pod …
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or …
Congenital nail abnormalities.
Nahmani L, Fitoussi F. Nahmani L, et al. Hand Surg Rehabil. 2024 Apr;43S:101527. doi: 10.1016/j.hansur.2023.01.011. Hand Surg Rehabil. 2024. PMID: 38879228 Review.
Congenital nail disorders are an uncommon presenting symptom which can be difficult to diagnose and manage. ...Nail conditions can be the first sign of nail-patella syndrome, ectodermal dysplasia, dyskeratosis congenita, epidermolysis bullosa, p …
Congenital nail disorders are an uncommon presenting symptom which can be difficult to diagnose and manage. ...Nail conditions …
Iliac "horns".
Roller BL, Dyer RB. Roller BL, et al. Abdom Radiol (NY). 2017 Dec;42(12):2953-2954. doi: 10.1007/s00261-017-1215-3. Abdom Radiol (NY). 2017. PMID: 28612165 Review. No abstract available.
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F. Vanlerberghe C, et al. Clin Genet. 2018 Jul;94(1):43-53. doi: 10.1111/cge.13209. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29322497 Review.
Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a backgroun
Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-
Genetic renal disease.
Saborio P, Scheinman J. Saborio P, et al. Curr Opin Pediatr. 1998 Apr;10(2):174-83. doi: 10.1097/00008480-199804000-00011. Curr Opin Pediatr. 1998. PMID: 9608896 Review.
Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases. ...The vascular structural defec …
Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitia …
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Harita Y, et al. Pediatr Nephrol. 2017 Oct;32(10):1845-1850. doi: 10.1007/s00467-016-3462-x. Epub 2016 Jul 23. Pediatr Nephrol. 2017. PMID: 27450397 Review.
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. ...Recent genetic analysis has found that some mutations in the
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplast
Nail-patella syndrome. Overview on clinical and molecular findings.
Bongers EM, Gubler MC, Knoers NV. Bongers EM, et al. Pediatr Nephrol. 2002 Sep;17(9):703-12. doi: 10.1007/s00467-002-0911-5. Epub 2002 Jul 30. Pediatr Nephrol. 2002. PMID: 12215822 Review.
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, dysplasia of the elbows, and frequently glaucoma and progressive nephropathy. The recent identi
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails,
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. Granata A, et al. Clin Nephrol. 2008 May;69(5):377-82. doi: 10.5414/cnp69377. Clin Nephrol. 2008. PMID: 18538102 Review.
Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. ...Renal involvement occurs in 30-60% of patients and presents with proteinuria and/or microscopic hematuria, edema, hypertension. Progression
Nail-patella syndrome (NPS) is a rare, autosomal dominant disorder reported in approximatively 1/50,000 individuals. ..
Tips to diagnose uncommon nail disorders.
Schneider SL, Tosti A. Schneider SL, et al. Dermatol Clin. 2015 Apr;33(2):197-205. doi: 10.1016/j.det.2014.12.003. Epub 2015 Feb 14. Dermatol Clin. 2015. PMID: 25828712 Review.
This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. ...We focus on two common tumors (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing t …
This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general prac …
75 results