Results 31 to 40 of about 3,517 (182)

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

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

A hypoplastic patella fracture in nail patella syndrome: a case report

Journal of Medical Case Reports, 2012
Introduction Nail patella syndrome is a rare autosomal dominant hereditary condition, with an incidence of 22 per million in the United Kingdom. The syndrome’s most common features include iliac horns, hypoplastic patella and nail dysplasia.
Neill Shane C O, Murphy Colin G, McElwain John P   +2 more
doaj   +1 more source

Complex regional pain syndrome in a competitive athlete and regional osteoporosis assessed by dual-energy X-ray absorptiometry: a case report. [PDF]

, 2014
Dual-energy X-ray absorptiometry is rarely utilized in the clinical care of patients with complex regional pain syndrome, but may be useful for the non-invasive determination of regional bone fragility and fracture risk, as well as muscular atrophy and ...
Hind, K, Johnson, MI
core   +2 more sources

Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology

SICOT-J, 2016
Introduction: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B.
Konrads Christian, Reppenhagen Stephan, Plumhoff Piet, Rudert Maximilian, Steinert Andre, Barthel Thomas   +5 more
doaj   +1 more source

The aetiology of idiopathic Parkinson's disease [PDF]

, 2001
Agents potentially involved in the aetiology of idiopathic Parkinson's disease are discussed. These include factors regulating dopaminergic neurogenesis (Nurr 1, Ptx-3, and Lmx1b) and related proteins, together with genes involved in familial Parkinson's
Ho, SL, Parsons, RB, Ramsden, DB, Waring, RH   +3 more
core   +2 more sources

Nail Patella Elbow Syndrome Presenting with Depression: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Nail-Patella Syndrome (NPS) is a rare autosomal dominant illness. Patients typically exhibit a tetrad of dysplastic finger or toenails, elbow dysplasia, hypoplastic or missing patellae, and iliac horns as their first musculoskeletal and dermatological ...
Deepa Sangolkar, Shweta Borkar, Nakul Ambhore, Ashish Ambhore, Nayan Sinha   +4 more
doaj   +1 more source

Finger creases lend a hand in Kabuki syndrome. [PDF]

, 2013
International audienceKabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications.
Alembick, Yves, Alix, Eudeline, Amiel, Jeanne, Baumann, Clarisse, Busa, Tiffany, Bürglen, Lydie, Cordier, Marie-Pierre, Cormier-Daire, Valerie, Corsini, Carole, Delrue, Marie-Ange, Doray, Bérénice, Faivre, Laurence, Fradin, Mélanie, Genevieve, David, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Goldenberg, Alice, Holder, Muriel, Héron, Delphine, Isidor, Bertrand, Jacquemont, Marie-Line, Jacquette, Aurélia, Kayirangwa, Honorine, Lacombe, Didier, Le Merrer, Martine, Le Quan Sang, Kim-Hanh, Lyonnet, Stanislas, Michot, Caroline, Moncla, Anne, Odent, Sylvie, Pelet, Anna, Philip, Nicole, Pinson, Lucille, Poisson, Sylvain, Roume, Joelle, Sanchez, Elodie, Sanlaville, Damien, Sarda, Pierre, Schaefer, Elise, Till, Marianne, Toutain, Annick, Willems, Marjolaine   +41 more
core   +4 more sources

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome

Acta Dermato-Venereologica, 2019
Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis.
Satoru Shinkuma, Hideki Nakamura, Manami Maehara, Shota Takashima, Toshifumi Nomura, Yasuyuki Fujita, Satoshi Hasegawa, Kazuko C. Sato-Matsumura, Riichiro Abe, Hiroshi Shimizu   +9 more
doaj   +1 more source

The C. elegans LIM homeobox gene lin-11 specifies multiple cell fates during vulval development [PDF]

, 2003
LIM homeobox family members regulate a variety of cell fate choices during animal development. In C. elegans, mutations in the LIM homeobox gene lin-11 have previously been shown to alter the cell division pattern of a subset of the 2° lineage vulval ...
Gupta, Bhagwati P., Sternberg, Paul W., Wang, Minqin   +2 more
core   +1 more source