Results 81 to 90 of about 1,198,648 (166)

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

, 2010
PURPOSE: Nail-Patella syndrome (MIM 161200) is a rare autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, and iliac horn.
Di Duca, Marco, Baban, Anwar, Renata Bocciardi, Francesca Mari, Maria T. Divizia, Gianluca Colussi, Margherita Lerone, Bedeschi, Maria F., Gaspar, Harald, Mario Bengala, Tenconi, Romano, Harald Gaspar, Garavelli, Livia, Emma, Francesco, Francesco Emma, Roberto Ravazzolo, Romano Tenconi, Sensi, Alberto, Cerone, Roberto, Anwar Baban, Maria F. Bedeschi, Monica Marini, Andrea Salmaggi, Marini, Monica, Seri, Marco, Bocciardi, Renata, Gimelli, Stefania, Bengala, Mario, Antonarakis, Stylianos, Stylianos E. Antonarakis, Isabella Mammi, Colussi, Gianluca, Marco Di Duca, Divizia, Maria T., Krzysztof Szczaluba, Marco Seri, Livia Garavelli, Roberto Cerone, Lerone, Margherita, Szczaluba, Krzysztof, Ravazzolo, Roberto, Stefania Gimelli, Salmaggi, Andrea, Mari, Francesca, Mammi, Isabella, Alberto Sensi   +45 more
core   +2 more sources

Type III collagen disorders: A case report and review of literature

Indian Journal of Pathology and Microbiology, 2016
Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition.
A Anitha, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal   +5 more
doaj   +1 more source

Nail patella syndrooma : Harvinaiset-opas [PDF]

, 2014
Nail patella syndrooma (NPS) on harvinainen pleiotrooppinen (moneen ominaisuuteen vaikuttava) sairaus, minkä aiheuttaa LMX1B-geenimutaatio. Syndrooman oireet on kuvattu jo vuonna 1820.
Tokola, Sirpa, Mustonen, Marjaana
core  

NAIL-PATELLA SYNDROME WITH ILIAC HORNS AND HEREDITARY NEPHROPATHY

, 1967
1 . Necropsy and dissection findings of a man of fifty-two who died from nail-patella syndrome are recorded. 2. The significance of the iliac horns are discussed and the literature concerning their development is reviewed. 3.
C. F. Hawkins, D. Darlington
core   +1 more source

Abstracts From PVRI 2026 Dublin

Pulmonary Circulation, Volume 16, Issue 2, April 2026.
wiley   +1 more source

Nail patella syndrome: a rare cause of renal failure in a young adult

The Pan African Medical Journal, 2011
Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted
Nagendra Boopathy Senguttuvan, Arjun Sivaraman, Devasenathipathy Kandasamy, Kanniraj Marimuthu   +3 more
doaj   +1 more source

Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl

, 2008
Nail-patella syndrome (NPS), also known as hereditary osteoonychodysplasia, is a rare autosomal dominant pleiotropic disorder, defined by the association of nail dysplasia, skeletal abnormalities and renal lesions.(1) Skeletal features include absent or ...
GUERGOEZE, Metin K., Onar, Funda D., Patirglu, Tahir E., DURSUN, Ismail, Guenduez, Zubeyde, POYRAZOĞLU, Muammer Hakan, Akguen, Huelya, Duesuensel, Ruhan   +7 more
core   +1 more source

Nail-patella syndrome with nephrotic syndrome and deafness: a case report

, 2018
Nail patella syndrome (NPS) is a rare hereditary disorder, characterized by typical dermatological and musculoskeletal abnormalities. It is an autosomal dominant condition resulting from the mutation of LMX1b gene at chromosome 9q34.
Siti Nor Hidayah Binti Kamarulzaman
core