Results 111 to 120 of about 3,517 (182)

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

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

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

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  

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

Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression. [PDF]

Case Rep Nephrol, 2020
Trimarchi H.
europepmc   +1 more source

Síndrome de Fong ou síndrome unha-patela Fong syndrome or nail-patella syndrome

Revista Brasileira de Reumatologia, 2007
Manoel Barros Bértolo
doaj   +1 more source

Dermatology [PDF]

, 2017
三澤 恵, 原 寛, 吉久 陽子, 杉田 友里, 松井 恒太郎, 松永 憲治, 森 直哉, 清水 忠道, 牧野 輝彦, 鹿児山 浩   +9 more
core   +2 more sources

Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report. [PDF]

Biomed Rep, 2020
Carinelli S, Blanco OA, Perdomo-Ramirez A, Claverie-Martin F.   +3 more
europepmc   +1 more source