Results 11 to 20 of about 3,498 (163)

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   +2 more sources

Isolated loss of inferior pubic ramus: a case report [PDF]

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   +2 more sources

Nail-Patella Syndrome [PDF]

JCR: Journal of Clinical Rheumatology, 2011
A Síndrome Unha-Rótula ou Nail-Patella Syndrome (OMIN 161200) (Osteo-Onicodisplasia Hereditária), descrita pela primeira vez por Chatelain em 1820, é uma síndrome polimalformativa rara que afecta tecidos de origem ecto e mesodérmica.
Gisele Cristine Dyonísio, Fernandes, Ulysses, Dos Santos Torres, Elisete, Funes, Roberto Acayaba, de Toledo   +3 more
openaire   +4 more sources

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins [PDF]

Human Genome Variation
Nail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in ...
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito   +11 more
doaj   +2 more sources

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   +2 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   +2 more sources

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome [PDF]

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin, Chiea Chuen Khor, Luis Silva, Einar A. Krefting, Robert Ritch   +4 more
doaj   +2 more sources

Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report [PDF]

Bone Reports, 2019
We report a 48-year-old Japanese man with a brown tumor of the right distal tibia. At the age of 25 years, hemodialysis was initiated due to nail-patella syndrome.
Naoya Toriu, Toshiharu Ueno, Hiroki Mizuno, Akinari Sekine, Noriko Hayami, Rikako Hiramatsu, Keiichi Sumida, Masayuki Yamanouchi, Eiko Hasegawa, Tatsuya Suwabe, Junichi Hoshino, Naoki Sawa, Kenmei Takaichi, Takeshi Fujii, Tomoka Hasegawa, Norio Amizuka, Motoko Yanagita, Yoshifumi Ubara   +17 more
doaj   +2 more sources

Arthropathy and proteinuria: nail-patella syndrome revisited [PDF]

GMS German Medical Science, 2014
[english] Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious
Albishri, Jamal
doaj   +2 more sources

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome [PDF]

BMC Medical Genetics, 2019
Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo, Fan Jin   +6 more
doaj   +2 more sources