Results 111 to 120 of about 1,198,648 (166)

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

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome. [PDF]

NPJ Genom Med
Cappato S, Divizia MT, Menta L, Rosti G, Puliti A, Martinheira Da Silva JS, Santamaria G, Di Duca M, Ronchetto P, Faravelli F, Zara F, Bocciardi R.   +11 more
europepmc   +1 more source

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

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

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

Nail patella syndrome

, 2020
openaire   +1 more source

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

ST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report. [PDF]

Eur Heart J Case Rep
Varkoly K, Parekh A, Kaplan J, DeYoung MB.   +3 more
europepmc   +1 more source

Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. [PDF]

Indian J Nephrol, 2018
Aboobacker IN, Krishnakumar A, Narayanan S, Hafeeque B, Gopinathan JC, Aziz F.   +5 more
europepmc   +1 more source