Results 111 to 120 of about 1,644 (145)
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The Journal of Bone and Joint Surgery. British volume, 1970
1. From India a family is reported in which fifteen of fifty-seven were affected by the nail-patella syndrome. 2. Additional coincidental features not described previously were fiexion deformities of both hips and hyperextension of the interphalangeal joints of the fingers. 3.
N D, Aggarwal, R L, Mittal
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1. From India a family is reported in which fifteen of fifty-seven were affected by the nail-patella syndrome. 2. Additional coincidental features not described previously were fiexion deformities of both hips and hyperextension of the interphalangeal joints of the fingers. 3.
N D, Aggarwal, R L, Mittal
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Pflügers Archiv - European Journal of Physiology, 2002
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal ...
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The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal ...
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The Journal of Bone and Joint Surgery. British volume, 1973
1. Three families with the characteristic changes of the nail-patella syndrome are reported. In addition to the well established bone and nail defects they had soft-tissue contractures, web formation around the elbows and muscular hypoplasias. The literature on soft-tissue changes is reviewed and their importance emphasised. 2.
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1. Three families with the characteristic changes of the nail-patella syndrome are reported. In addition to the well established bone and nail defects they had soft-tissue contractures, web formation around the elbows and muscular hypoplasias. The literature on soft-tissue changes is reviewed and their importance emphasised. 2.
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Clinical nephrology, 1980
Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis +5 more
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Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis +5 more
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JCR: Journal of Clinical Rheumatology, 2011
Gisele Cristine Dyonísio, Fernandes +3 more
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Gisele Cristine Dyonísio, Fernandes +3 more
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Zeitschrift fur Urologie und Nephrologie, 1990
In a case report the rare nail-patella-syndrome is presented. Typical and pathognomonic signs are: nail aplasia or dystrophy, iliac horns, hypoplasia or aplasia of the patellae, elbow dysplasia and a nephropathy with electron microscopic demonstrable collagen-like deposition in the glomerular basal membrane.
B, Rogner +3 more
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In a case report the rare nail-patella-syndrome is presented. Typical and pathognomonic signs are: nail aplasia or dystrophy, iliac horns, hypoplasia or aplasia of the patellae, elbow dysplasia and a nephropathy with electron microscopic demonstrable collagen-like deposition in the glomerular basal membrane.
B, Rogner +3 more
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Radiological characteristics of the knee joint in nail patella syndrome
Bone and Joint Journal, 2016Siebren Tigchelaar, G Hannink
exaly
Membranous Nephropathy in a Patient with Nail-Patella Syndrome Nephropathy
Scottish Medical Journal, 1985A Doig
exaly