Results 71 to 80 of about 1,198,598 (142)

CASE REPORT OF NAIL-PATELLA SYNDROME

, 2020
Nail-patela sindrom (Fongova bolest, nasljedna osteoonihodiplazija) rijetki je genetski poremećaj koji je karakterističan po promjenama na noktima, koljenima, laktovima i pojavi ilijačnih rogova(1).
Štefančić, Karla
core   +1 more source

THE INHERITANCE AND DEVELOPMENT OF THE NAIL-PATELLA SYNDROME

, 1963
1. A genetic and orthopaedic analysis of a family of seventy members exhibiting the nail-patella syndrome is described. 2. The disorder is found to be determined by a simple dominant autosomal gene with complete penetrance, but displaying variable ...
Frederick Hecht, Robert B. Duthie
core   +1 more source

Isolated loss of inferior pubic ramus: a case report

Journal of Medical Case Reports, 2008
Introduction It has been stated that regulation of the development of the iliac bone is different from that of the ischium and pubis. There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome ...
Saber Aly
doaj   +1 more source

Robert Nail Collection

Letter from Robert Nail to Margaret C.
Nail, Robert
core   +3 more sources

A case of ectopic cilia in nail-patella syndrome

, 2012
Both ectopic cilia and nail-patella syndrome (NPS) are rare entities. To our knowledge we report the first case of the two anomalies coexisting in one patient.
Kipioti, Athina, Edmunds, Matthew R, Colloby, Peter S, Reuser, Tristan T Q   +3 more
core   +1 more source

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
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