Results 91 to 100 of about 1,644 (145)

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

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome. [PDF]

Intractable Rare Dis Res, 2019
Claverie-Martin F, Trindade A, Garcia-Gonzalez NC, Callejon AC.   +3 more
europepmc   +1 more source

A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement. [PDF]

Skin Appendage Disord, 2019
Starace M, Di Altobrando A, Alessandrini A, Piraccini BM.   +3 more
europepmc   +1 more source

Multimodality Imaging Findings of Nail–Patella Syndrome: The Utility of Cross-Sectional Imaging in Identifying Soft Tissue Abnormalities

Indian Journal of Radiology and Imaging
Aayush Sharma, Avneesh Chhabra, Flavio Duarte Silva   +2 more
doaj   +1 more source

[Nail patella syndrome].

Acta reumatologica portuguesa, 2007
Maria João, Saavedra, Armando, Malcata
openaire   +1 more source