Results 141 to 150 of about 1,289,318 (184)

Anesthetic Challenges and Goals in a 17-Year-Old Patient with Nail Patella Syndrome Undergoing Emergency Open Appendectomy: A Case Report

Bharat Krishna M, S Niranjni, Navaneetha Krishnan M, R Lakshmi   +3 more
openalex   +1 more source

Characterisation of lmx1b paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development

Biology Open
Joanna J. Moss, Chris R. Neal, Erika Kague, Jon D. Lane, Chrissy L. Hammond   +4 more
doaj   +1 more source

Nail-Patella Syndrome

, 2012
openaire   +2 more sources

Nail patella syndrome

, 2014
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Nail-Patella Syndrome

Pflügers Archiv - European Journal of Physiology, 2002
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal ...
Musa, H. H., Wammanda, R. D.
openaire   +3 more sources

NAIL-PATELLA SYNDROME

The Journal of Bone and Joint Surgery. British volume, 1970
1. From India a family is reported in which fifteen of fifty-seven were affected by the nail-patella syndrome. 2. Additional coincidental features not described previously were fiexion deformities of both hips and hyperextension of the interphalangeal joints of the fingers. 3.
N D, Aggarwal, R L, Mittal
openaire   +3 more sources

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Nephropathy of Nail-Patella Syndrome

Ultrastructural Pathology, 1988
Ultrastructural renal lesions of a sporadic case of nail-patella syndrome are described. Although the patient, an 8-year-old Japanese boy, had no clinical renal syndrome, electron microscopy disclosed the presence of collagen fibrils and electron lucent areas within glomerular basement membrane.
Shigeo Takebayashi, S Takebayashi, Takashi Taguchi   +2 more
exaly   +3 more sources

THE NAIL-PATELLA SYNDROME

The Journal of Bone and Joint Surgery. British volume, 1973
1. Three families with the characteristic changes of the nail-patella syndrome are reported. In addition to the well established bone and nail defects they had soft-tissue contractures, web formation around the elbows and muscular hypoplasias. The literature on soft-tissue changes is reviewed and their importance emphasised. 2.
A. Fidalgo Valdueza
openaire   +3 more sources

Nail-Patella Syndrome

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
core   +4 more sources