Results 31 to 40 of about 1,289,318 (184)

Nail-Patella Syndrome in a 76-Year-Old Woman: Multisystem Phenotype, Diagnostic Delay, and Clinical Implications. [PDF]

J Clin Med
Diaconu C, Vidrighin A, Preda EM, Diaconu CG, Domnariu CD, Popa FL, Canciu AM, Cernea OG, Harris DM, Porr C.   +9 more
europepmc   +2 more sources

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome [PDF]

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin, Chiea Chuen Khor, Luis Silva, Einar A. Krefting, Robert Ritch   +4 more
doaj   +2 more sources

Accuracy and Completeness of Online Patient Information on Nail-Patella Syndrome: A Pilot Cross-Sectional Study. [PDF]

Cureus
Mohamed H, Manoukian D.
europepmc   +2 more sources

Nail-Patella Syndrome in an Adolescent: Importance of Nail Examination. [PDF]

J Dermatol
García Silvera D, Benítez García E, González Rodríguez J, García Peris E, Suárez Hernández J.   +4 more
europepmc   +3 more sources

Nail-patella syndrome: Lesser known but more sensitive dermatologic features than triangular lunulae. [PDF]

JAAD Case Rep
Haveric A, Zhao P, Dedo A, Hsu S.
europepmc   +2 more sources

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report

Journal of Orthopaedic Case Reports
Introduction: Congenital absence of the patella refers to a condition where an individual is born without the patella. It may be bilateral or unilateral.
Mohammed Alshahrani, Ali Maqbool, Mubashar Maqbool   +2 more
doaj   +2 more sources

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome [PDF]

BMC Medical Genetics, 2019
Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo, Fan Jin   +6 more
doaj   +2 more sources

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up. [PDF]

Eur J Hum Genet
Brunelle P, Jourdain AS, Escande F, Audebert-Bellanger S, Bouquillon S, Cormier-Daire V, Desdoits A, Lacombe D, Molin A, Gruchy N, Touraine R, Van Gils J, Ghoumid J, Thomes L, Petit F.   +14 more
europepmc   +3 more sources

"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome. [PDF]

Cureus, 2023
Dzhugarian S, Hamamah S, Frugoli A, Shepard A.   +3 more
europepmc   +3 more sources

Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report. [PDF]

Cureus, 2023
Khadka N, Kc P, Sharma S, Sharma S, Rayamajhi S.   +4 more
europepmc   +3 more sources