Results 101 to 110 of about 1,198,648 (166)

Nail-patella syndrome and its association with glaucoma: a review of eight families

, 2006
Background: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated
David Mackey (14743045), Craig, JE (15485495), Rait, JL (15481901), Mimiwati, Z (15507911), MacKinnon, JR (15496529), Ayala-Lugo, R (15507917), Liebelt, JE (15507914), Richards, JE (15503015), Vollrath, D (15503006)   +8 more
core  

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   +1 more source

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

Cureus
Mohamed H, Manoukian D.
europepmc   +1 more source

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   +1 more source

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

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

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

Medicine (Baltimore)
Chen W, Lu TX, Liu Y.
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  

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

Management of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report. [PDF]

Cureus
Grossi J, Garber L, Olexa M, Zanganeh K, Picerno Ii RA.   +4 more
europepmc   +1 more source