Results 31 to 40 of about 1,198,648 (166)
Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains [PDF]
Nature CommunicationsMutations in the transcription factor LMX1B have been identified as the cause of the autosomal-dominant disease nail-patella syndrome. It manifests in small or absent patellae and dysplastic or missing toe- and fingernails, but the prognosis of the ...
Joshua Hermens +11 more
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Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]
Scientific ReportsNail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret +4 more
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Retrospective Diagnosis of Nail-patella Syndrome. [PDF]
Indian J Nephrol, 2021 A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was
Virani ZA, Rajput P, Vora H, Shah BV.
europepmc +3 more sources
Nail-Patella Syndrome: A Classic Case [PDF]
Dermatology Practical & Conceptual, 2019 Sarita Sanke +3 more
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Nail-patella syndrome: "nailing" the diagnosis in three generations [PDF]
, 2020 Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns.
Harper, Haleigh +4 more
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Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding [PDF]
Anais Brasileiros de Dermatologia, 2017 : The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic.
Bruna Giusto Bunjes +1 more
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Genetic analysis of a pedigree with nail-patella syndrome and literature review [PDF]
Xin yixue, 2023 Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family.
Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo
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A hypoplastic patella fracture in nail patella syndrome: a case report
Journal of Medical Case Reports, 2012 Introduction Nail patella syndrome is a rare autosomal dominant hereditary condition, with an incidence of 22 per million in the United Kingdom. The syndrome’s most common features include iliac horns, hypoplastic patella and nail dysplasia.
Neill Shane C O +2 more
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NailPatella Syndrome A Case Report
Acta Orthopaedica et Traumatologica Turcica, 2021 ln Our Clinic, a Case of Habitual dislocation of patella was diagnosed as Nail-Patella Syndrome, ln ourpatient, dystrophic changes In nails, hypoplasia of femoral condyle and habitual dislocation of patella in knee, hypoplasia of capitellum and radial ...
Mahmut U. Karli +4 more
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