Results 121 to 130 of about 11,502 (212)

Living-related renal transplantation in a patient with nail-patella syndrome

, 1988
Living-related renal transplantation was performed successfully in a patient with nail-patella syndrome. Graft biopsy 18 months post-transplantation showed normal glomerular basement membrane by electron microscopy. Dystrophic nails of both index fingers
Chan, PCK, Cheng, IKP, Chan, MK, Chan, KW   +3 more
core   +1 more source

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings

, 2020
We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails.
Baldassarri M., Cinotti E., Rubegni P., Fava F., Renieri A., Tognetti L., Provvidenziale L.   +6 more
core   +1 more source

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome [PDF]

, 1999
Asli Silahtaroglu, Frans A. Hol, Peter KA Jensen, Martin Erdel, Hans‐Christoph Duba, M.P.A. Geurds, Nine V.A.M. Knoers, Edwin C.M. Mariman, Zeynep Tümer, Gerd Utermann, Jutta Wirth, Merete Bugge, Niels Tommerup   +12 more
openalex   +1 more source

A child with nail-patella syndrome including nephropathy, autism, and epilepsy [PDF]

, 2004
Nail-Patella syndrome is characterized by dysplasia or absence of nailbeds and patellae, abnormalities of the elbow such as subluxation of the radial head, hornlike overgrowths of the iliac bones, and in some cases, nephropathy.
Yagi, Kazuro, Yanagida, Hidehiko, Takemura, Tsukasa, Tabata, Nobutada, Okada, Mitsuru, Sugimoto, Keisuke   +5 more
core  

Nail patella syndrome: a review of the phenotype aided by developmental biology [PDF]

, 2003
Elizabeth Sweeney, A Fryer, R Mountford, A Green, I McIntosh   +4 more
openalex   +1 more source

Nail-patella syndrome

, 2022
Kamel Alkhateeb
openalex   +1 more source

Nail-patella syndrome and its association with glaucoma: a review of eight families

, 2006
Background: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated
David Mackey (14743045), Craig, JE (15485495), Rait, JL (15481901), Mimiwati, Z (15507911), MacKinnon, JR (15496529), Ayala-Lugo, R (15507917), Liebelt, JE (15507914), Richards, JE (15503015), Vollrath, D (15503006)   +8 more
core  

34722 Nail-patella syndrome: An early dermatologic diagnosis

, 2022
Presentation: A 3-month-old female presented with congenital onychodystrophy of both upper extremities and unilateral postaxial polydactyly of her left lower extremity.
Kennelly, Kelly, Oska, Sandra, Misra, Vinod   +2 more
core  

Issue Information

Orthopaedic Surgery, Volume 17, Issue 11, Page 3005-3006, November 2025.
wiley   +1 more source

Management of patellar problems in skeletally mature patients with nail-patella syndrome

, 2017
Purpose Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent ...
Louboutin, Lucie, Neyret, Philippe, Wascher, Daniel   +2 more
core   +1 more source