Results 111 to 120 of about 3,403 (173)

El síndrome de nail-patella: presentación de 5 casos

, 2005
Five cases of nail-patella syndrome of 2 different families are presented. In all of them there were evident the clinical features typical of the disease.
Ortega Arruti, J.A., Repáraz Padrós, Jesús, Pombo Manero, V., Arenas Miquélez, A., Arenas Planelles, Antonio   +4 more
core  

Nail patella syndrome [PDF]

, 2020
openaire   +2 more sources

Chloronychia: green nail syndrome caused by Pseudomonas aeruginosa in elderly persons

, 2015
Anca Chiriac,1–3 Piotr Brzezinski,4 Liliana Foia,5 Iosif Marincu61Apollonia University, 2Nicolina Medical Center, Department of Dermatology, 3“P.Poni” Institute of Macromolecular Chemistry, Iasi, Romania; 4Department of Dermatology, 6th
Brzezinski P, Chiriac A, Marincu I, Foia L   +3 more
core  

[From gene to disease; the nail-patella syndrome and the LMX1B gene]

, 2003
Nail-patella syndrome (NPS) is an autosomal dominant hereditary disorder characterised by nail dysplasia, patellar apoplasia/hypoplasia, iliac horns, elbow dysplasia, and frequently primary open angle glaucoma and progressive nephropathy.
Knoers, N.V.A.M., Bongers, M.H.F.
core  

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   +1 more source

Nail-Patella Syndrome: Clinical Clues for Making the Diagnosis

, 2018
Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic triad of fingernail dysplasia, patellar absence/hypoplasia, and presence of iliac horns.
Cervantes, Jessica, Lindsey, Scott, Aickara, Divya, Price, Alexandra, Hu, Shasa   +4 more
core  

Inflammatory back pain associated with nail-patella syndrome: A case report. [PDF]

Medicine (Baltimore)
Chen W, Lu TX, Liu Y.
europepmc   +1 more source

Hips don’t lie: Fong disease

Journal of the Belgian Society of Radiology, 2017
Taj Mohammad Waziri, Annemieke Milants, Vikram rao Bollineni, Michel De Maeseneer   +3 more
doaj   +1 more source

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene. [PDF]

Mov Disord, 2020
Bech S, Løkkegaard A, Nielsen TT, Nørremølle A, Grønborg S, Hasholt L, Steffensen GK, Graehn G, Olesen JH, Tommerup N, Mang Y, Bak M, Nielsen JE, Eiberg H, Hjermind LE.   +14 more
europepmc   +1 more source

Paciente con asociación de síndrome uña-rótula y artrogriposis múltiple congénita. Evolución clínico-radiológica

Revista Médica Electrónica
RESUMEN La asociación de la artrogriposis múltiple congénita con el síndrome uña -rótula es rara, porque ambas patologías son infrecuentes. Debido a la gran variedad de manifestaciones clínico-radiológica de ambos síndromes, es necesario conocer el ...
Juan de Dios García Domínguez, Miriam Subiaurt Ortega, Lázara González Landrián   +2 more
doaj