Results 51 to 60 of about 1,198,648 (166)

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Consecutive successful pregnancies of a patient with nail-patella syndrome

, 2018
Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms).
TANAÇAN, ATAKAN, ÜNAL, CANAN, FADILOĞLU, ERDEM, ÖRGÜL, GÖKÇEN, Beksac, M. S.   +4 more
core   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Clavicular horn: Another bony projection in nail-patella syndrome

, 1995
Nail-patella syndrome is an uncommon inherited disorder characterized by nail dysplasia, iliac horns, and knee and elbow abnormalities. We report a patient with nail-patella syndrome in whom clavicular horn, shoulder girdle dysplasias, and pelvic ...
Cumhur, T., Yarali, HÜSNİYE NEŞE, Karaarslan, F., Erden, G.A., Bilgiç, S.C.   +4 more
core   +1 more source

Nail-patella syndrome with infertility in a 38 year old Saudi male: A case report

Journal of Dermatology and Dermatologic Surgery, 2016
Nail-patella syndrome (NPS) which also known as hereditary osteo-onychodysplasia is a rare autosomal-dominant disorder characterized by a classic clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns.
Nada Al-Ghamdi
doaj   +1 more source

Open and arthroscopic deepening trochleoplasty improves post‐operative outcomes: A systematic review of the literature reveals lack of comparability between techniques

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 34, Issue 1, Page 34-51, January 2026.
Abstract Purpose Deepening trochleoplasty improves outcomes in patients with trochlear dysplasia. The aim of this systematic review was to present the outcomes after open thin‐flap, open thick‐flap and arthroscopic deepening trochleoplasty. Methods A systematic review was conducted using the PRISMA guidelines.
Signe Høj, Johanne Kofoed Lundegaard, Lars Blønd, Peter Lavard, Anke Simone Rechter, Christian Dippmann, Kristoffer W. Barfod   +6 more
wiley   +1 more source

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

PLoS Genetics, 2014
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy
Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson   +17 more
doaj   +1 more source

Mycophenolate Mofetil–Associated Atypical Posterior Reversible Encephalopathy Syndrome With Anterior Circulation Involvement and Tetraparesis

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity characterized by acute neurologic symptoms and vasogenic edema on neuroimaging, classically involving the parieto‐occipital regions. Atypical distributions and presentations can occur, particularly in the setting of immunosuppression.
Smriti Kochhar, Benjamin Walters, Kanishk Aggarwal, Shane Kinard, Rohit Jain, Poulami Jha   +5 more
wiley   +1 more source

ULTRASONOGRAPHY OF THE CARTILAGINOUS PATELLA IN PEDIATRIC PATIENTS: A CASE SERIES [PDF]

Acta Ortopédica Brasileira
Objective: To analyze cases with clinical suspicion of patellar abnormalities, before ossification of the patella and to characterize the spectrum of abnormalities of the cartilaginous infantile patella by ultrasonography.
Leila Pereira Tenório, José Batista Volpon, Marcello Henrique Nogueira-Barbosa   +2 more
doaj   +1 more source