Results 161 to 170 of about 11,502 (212)

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

open access: yesBiology Open
Joanna J. Moss   +4 more
doaj   +1 more source

Nail patella syndrome.

open access: yesJBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR), 2008
A, Snoeckx   +2 more
openaire   +1 more source

Case report: dual pathology of LMX1B-associated nephropathy and iga nephropathy in a middle-aged woman. [PDF]

open access: yesBMC Nephrol
Sajjad A   +6 more
europepmc   +1 more source
Some of the next articles are maybe not open access.

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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, Noboru Tsuru
exaly   +3 more sources

Nail-patella syndrome

Journal of the American Academy of Dermatology, 2003
NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, known as
Beth A, Schulz-Butulis   +2 more
openaire   +2 more sources

The Nail‐Patella Syndrome

The Journal of Dermatologic Surgery and Oncology, 1981
A case of the nail‐patella syndrome in extensive development is presented and the literature on this rare hereditary arthro‐osteo‐onychodysplasia is reviewed.
C, Kouskoukis, A, Tousimis, D, Minas
openaire   +2 more sources

Nail-Patella-Elbow Syndrome

Archives of Dermatology, 1964
A case of the nail-patella-elbow syndrome is reported. To our knowledge, it is the first case of the condition in which elastic fiber changes of the skin have been described. The abnormal histologic findings in grossly normal appearing skin is unexplained.
R C, GIBBS, P H, BERCZELLER, A B, HYMAN
openaire   +2 more sources

Total Knee Arthroplasty Using Computer-Assisted Navigation in a Patient with Nail-Patella Syndrome

JBJS Case Connector, 2023
Case: Nail-patella syndrome (NPS) is a genetic disorder causing anatomical abnormalities about the knee, including significant patellar hypoplasia. We present a case of a patient with NPS and severe knee osteoarthritis undergoing computer-assisted total ...
R. Courington   +2 more
semanticscholar   +1 more source

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