Results 111 to 120 of about 1,515 (149)
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Archives of Dermatology, 1964
A case of the nail-patella-elbow syndrome is reported. To our knowledge, it is the first case of the condition in which elastic fiber changes of the skin have been described. The abnormal histologic findings in grossly normal appearing skin is unexplained.
R C, GIBBS, P H, BERCZELLER, A B, HYMAN
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A case of the nail-patella-elbow syndrome is reported. To our knowledge, it is the first case of the condition in which elastic fiber changes of the skin have been described. The abnormal histologic findings in grossly normal appearing skin is unexplained.
R C, GIBBS, P H, BERCZELLER, A B, HYMAN
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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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Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1997
The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly.
T, Wildfeuer, G, Albrecht
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The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly.
T, Wildfeuer, G, Albrecht
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Archives of Internal Medicine, 1973
The nail-patella syndrome is considered to be an autosomal dominant hereditary disease. 1 It is manifested by a variety of bone and other abnormalities, such as absence or hypoplasia of the patellae, hemidysplasia of certain nails, particularly of the thumb, subluxation of the radial heads at the elbow joints, iliac horns, thickening of the scapulae ...
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The nail-patella syndrome is considered to be an autosomal dominant hereditary disease. 1 It is manifested by a variety of bone and other abnormalities, such as absence or hypoplasia of the patellae, hemidysplasia of certain nails, particularly of the thumb, subluxation of the radial heads at the elbow joints, iliac horns, thickening of the scapulae ...
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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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