Results 21 to 30 of about 1,516 (148)

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   +2 more sources

Nail-patella syndrome [PDF]

Orthopaedics and Trauma, 2009
Rouin Amirfeyz
exaly   +5 more sources

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report [PDF]

BMC Musculoskeletal Disorders
/Summary Background Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the
Kazuya Matsumoto, Yoshinori Matsumoto, Shoichi Nawachi, Yosuke Asano, Yu Katayama, Yoshia Miyawaki, Takayuki Katsuyama, Eri Katsuyama, Yoshihisa Nasu, Ken-Ei Sada, Jun Wada   +10 more
doaj   +2 more sources

Prenatal diagnosis of nail patella syndrome: A case report

Indian Journal of Radiology and Imaging, 2017
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation.
L D Padmanabhan, D Yesodharan, S Nampoothiri   +2 more
doaj   +2 more sources

Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]

Scientific Reports
Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret, Séverine Hatton, Jacques Callebert, Valérie Cormier-Daire, Céline Greco   +4 more
doaj   +2 more sources

Nail-Patella Syndrome: A Classic Case [PDF]

Dermatology Practical & Conceptual, 2019
Sarita Sanke, Taru Garg, Rubina Jassi, Apoorva Maheshwari   +3 more
doaj   +2 more sources

Nail-patella syndrome.

Indian J Med Res, 2018
Kundu ZS, Siwach RC.
europepmc   +4 more sources

Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding [PDF]

Anais Brasileiros de Dermatologia, 2017
: The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic.
Bruna Giusto Bunjes, Marcelle da Costa Frickmann Fernandes   +1 more
doaj   +1 more source

Genetic analysis of a pedigree with nail-patella syndrome and literature review [PDF]

Xin yixue, 2023
Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family.
Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo
doaj   +1 more source

A Case Report of Nail-Patella Syndrome

罕见病研究, 2023
Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail ...
CHEN Dan, SUN Liying, ZHONG Wenyao, TIAN Wen   +3 more
doaj   +1 more source