Results 141 to 150 of about 3,403 (173)
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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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 ...
Musa, H. H., Wammanda, R. D.
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Nephropathy of Nail-Patella Syndrome
Ultrastructural Pathology, 1988Ultrastructural renal lesions of a sporadic case of nail-patella syndrome are described. Although the patient, an 8-year-old Japanese boy, had no clinical renal syndrome, electron microscopy disclosed the presence of collagen fibrils and electron lucent areas within glomerular basement membrane.
Shigeo Takebayashi, Noboru Tsuru
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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.
A. Fidalgo Valdueza
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JCR: Journal of Clinical Rheumatology, 2011 A Síndrome Unha-Rótula ou Nail-Patella Syndrome (OMIN 161200) (Osteo-Onicodisplasia Hereditária), descrita pela primeira vez por Chatelain em 1820, é uma síndrome polimalformativa rara que afecta tecidos de origem ecto e mesodérmica.
Gisele Cristine Dyonísio, Fernandes +3 more
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Journal of the American Academy of Dermatology, 2003
NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, known as
Beth A, Schulz-Butulis +2 more
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NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, known as
Beth A, Schulz-Butulis +2 more
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The Journal of Dermatologic Surgery and Oncology, 1981
A case of the nail‐patella syndrome in extensive development is presented and the literature on this rare hereditary arthro‐osteo‐onychodysplasia is reviewed.
C, Kouskoukis, A, Tousimis, D, Minas
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A case of the nail‐patella syndrome in extensive development is presented and the literature on this rare hereditary arthro‐osteo‐onychodysplasia is reviewed.
C, Kouskoukis, A, Tousimis, D, Minas
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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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