Results 81 to 90 of about 1,512 (149)

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

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  

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

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. [PDF]

Eur J Hum Genet, 2020
Harita Y, Urae S, Akashio R, Isojima T, Miura K, Yamada T, Yamamoto K, Miyasaka Y, Furuyama M, Takemura T, Gotoh Y, Takizawa H, Tamagaki K, Ozawa A, Ashida A, Hattori M, Oka A, Kitanaka S.   +17 more
europepmc   +1 more source

Nail-patella syndrome

, 2015
Laurence Heidet, Marie Claire Gubler
openaire   +2 more sources

Identification of a novel missense variant in the <i>LMX1B</i> gene associated with nail-patella syndrome in a Chinese family. [PDF]

Front Genet
Sun Q, Ren Y, Cao Y, Zheng W, Su G, Wang X, Wang H.   +6 more
europepmc   +1 more source

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B. [PDF]

Ann Lab Med
Jang J, Im H, Lee H, Sung H, Cho SI, Lee JS, Ko JM, Seong MW.   +7 more
europepmc   +1 more source