Results 11 to 20 of about 11,502 (212)

Lessons learned from a muscle study in nail-patella syndrome [PDF]

Orphanet Journal of Rare Diseases
Background Nail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature.
Luisa Paul, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos, Heike Kölbel   +8 more
doaj   +5 more sources

LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome [PDF]

npj Genomic Medicine
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene.
Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi   +11 more
doaj   +5 more sources

Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature [PDF]

Case Reports in Ophthalmology, 2022
Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by nail dysplasia, aplastic or hypoplastic patellae, elbow dysplasia, and presence of iliac horns. Renal or ocular abnormalities are also associated with the disease.
Nicola Pallozzi Lavorante, Michele Iester, Chiara Bonzano, Alessandro Bagnis, Carlo Enrico Traverso, Carlo Alberto Cutolo   +5 more
doaj   +5 more sources

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up [PDF]

Frontiers in Endocrinology, 2022
Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes.
Hillevi Lindelöf, Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Ann Nordgren, Giedre Grigelioniene, Giedre Grigelioniene, Anna Hammarsjö, Anna Hammarsjö   +9 more
doaj   +5 more sources

Orthopedic manifestations and management of nail-patella syndrome: a narrative review [PDF]

Frontiers in Pediatrics
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac
Amandine Beaugé, Viola Sbampato, Oscar Vazquez, Giacomo De Marco, Christina Steiger, Romain Dayer, Dimitri Ceroni   +6 more
doaj   +5 more sources

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]

BMC Nephrology
Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung, Maggie Lo-Yee Yau, Pensi Ping Hei Lam, Cheuk-Chun Szeto, Shuk-Ching Chong, Kai-Ming Chow   +5 more
doaj   +3 more sources

Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings [PDF]

Case Reports in Ophthalmology, 2022
We describe a 51-year-old Hispanic female with nail-patella syndrome (NPS), a rare genetic disease with a wide range of systemic features such as nail dysplasia and finger abnormalities, elbow webbing, iliac horn, patellar subluxation, and proteinuria ...
Hafsa Z. Zuberi, Ashika Angirekula, Muhammad R. Akram, Karanjit S. Kooner   +3 more
doaj   +3 more sources

Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report [PDF]

Radiology Case Reports
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows.
Saroj Sitaula, Sabina Sitaula, Pragati Khadka, Roshna Adhikari   +3 more
doaj   +3 more sources

Robotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome [PDF]

Arthroplasty Today, 2021
A 59-year-old woman with nail patella syndrome (NPS) presented with progressive and severe right knee pain for the past 3 years. Imaging demonstrated laterally dislocated patella, with asymmetric femoral trochlea, and advanced lateral compartment ...
Rushabh M. Vakharia, MD, Zaimary A. Meneses, BS, MS, Andrew D. Ardeljan, BS, Martin W. Roche, MD   +3 more
doaj   +3 more sources

Nail-Patella Syndrome: A Case Series From Northern India. [PDF]

Cureus, 2023
The nail-patella syndrome (NPS) is an uncommon entity with a characteristic set of anomalies. The presence of classical tetrad of hypoplastic or absent fingernails, hypoplastic or absent patellae, bilateral iliac horns and varying grades of elbow ...
Dharmshaktu GS, Dharmshaktu IS.
europepmc   +4 more sources