Results 41 to 50 of about 1,198,648 (166)
SICOT-J, 2016 Introduction: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B.
Konrads Christian +5 more
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Acta Dermato-Venereologica, 2019 Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis.
Satoru Shinkuma +9 more
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NAIL-PATELLA SYNDROME: A CASE REPORT
, 2002 An otherwise healthy 33 days old girl, displaying features of the Nail-Patella syndrome is reported. This rare autosomal dominant disorder is characterised by nail and bone abnormalities, with nail hypoplasia or dysplasia and absent or hypoplastic ...
H. H. Musa, R. D. Wammanda
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Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia
Advanced Biomedical Research, 2014 Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia
Gholamhossein Ghaffarpour +3 more
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Familial congenital posterior luxation of the head of radius variance of the NaiIPatella syndrome
Acta Orthopaedica et Traumatologica Turcica, 2021 Familial congenital posterior luxation of the head of radius is a rarely encountered congenital anomaly. lt may be isolated or combined with other congenital anomalies.
Sait Ada +4 more
doaj
Renal disease in nail-patella syndrome: Clinical and morphologic studies [PDF]
, 1972 Renal disease in nail-patella syndrome: Clinical and morphological studies. Clinical and morphological features of seven patients with the nail-patella syndrome are described.
Sisson, Susan +3 more
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Annals of Noninvasive Electrocardiology, Volume 31, Issue 5, September 2026.Standard‐dose magnesium sulfate may cause life‐threatening hypermagnesemia and reversible hig ‐degree atrioventricular block in pregnant women with acute kidney injury. Prompt recognition, discontinuation of magnesium sulfate, and intravenous calcium gluconate can rapidly restore cardiac conduction and improve maternal and neonatal outcomes.
Alex F. Lwiza +5 more
wiley +1 more source
Indian journal of dermatology, venereology and leprology, 2017 A 14-year-old male having nail-patella syndrome, manifested as deficient nails on the ubw aspect of thumbs, V-shaped half- moons, rudimentry patella on right side and absence on left side. X-ray of pelvis showed iliac horns.. Family history was suggestive of autosomal dominant of inheritance.
V K, Jain, U S, Pahwa, Anil, Dashore
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Nursing in Critical Care, Volume 31, Issue 3, May 2026.ABSTRACT Background Most critically ill children in the paediatric intensive care unit (PICU) are immobilised. Prolonged immobilisation in the PICU negatively affects children's physical health outcomes. Aim The aim of the study was to evaluate the effectiveness of an early progressive exercise (EPE) intervention to improve the PICU‐acquired muscle ...
Shaodan Qi +7 more
wiley +1 more source
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder [PDF]
, 2017 PurposeNail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome.
Sarah E. Topol +13 more
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