Recent Publications on Nail-Patella Syndrome: |  |
Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl.
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder...
Direct Link | 1st August, 2008
| Department of Pediatric Nephrology, Erciyes University Faculty of
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| Nail patella syndrome.
| 23rd July, 2008
| University of Louisville Hospital, 530 South Jackson Street, Suite C07,
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| [The nail-patella syndrome: rare genetically determined cause of proteinuria]
| 19th July, 2008
| Katedra i Klinika Nefrologii, Endokrynologii i Chorob Przemiany Materii
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| Nail-patella syndrome and renal involvement. Description of three cases and literature review.
| 8th July, 2008
| Department of Nephrology, Dialysis and Internal Medicine A.O. Vittorio
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A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.
We conducted clinical and genetic studies in a large Chinese family with...
Direct Link | 4th July, 2008
| Center for Human Molecular Biology and Genetics, Sichuan Academy of
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A novel LMX1B nonsense mutation in a family with nail-patella syndrome.
We conducted clinical and genetic studies in a large Chinese family with...
Direct Link | 20th June, 2008
| Department of Dermatology, Osaka City University Graduate School of
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Isolated loss of inferior pubic ramus: a case report.
ABSTRACT: INTRODUCTION: It has been stated that regulation of the...
Direct Link | 14th June, 2008
| Port Fouad General Hospital, Port Fouad, Port Said, Egypt.
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Kidney disease in nail-patella syndrome.
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder...
Direct Link | 7th June, 2008
| Division of Nephrology, MS#40, Childrens Hospital Los Angeles, 4650 Sunset
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[Bilateral luxation of the radial head: Nail-Patella syndrome]
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder...
Direct Link | 20th May, 2008
| Service de chirurgie infantile, hopital Nord, 42055 Saint-Etienne cedex 2,
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| Gene symbol: LMX1B. Disease: Nail-Patella syndrome.
| 26th April, 2008
| King Abduaziz Medical City, Molecular Pathology, PO. BOX 22490, MC1122,
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Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
Heterozygous mutations in the LMX1B gene cause nail patella syndrome (NPS)...
Direct Link | 17th April, 2008
| 1Department of Human Genetics, Radboud University Nijmegen Medical Centre,
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Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation.
Glomerular deposition of fibrillar collagen is a characteristic finding of...
Direct Link | 28th March, 2008
| Department of Cellular Pathology, John Radcliffe Hospital, Headley Way,
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Identification of genes controlled by LMX1B in the developing mouse limb bud.
In the developing limb, dorsal-ventral patterning is controlled by the...
Direct Link | 21st March, 2008
| Laboratory of Neural Circuit Development, Institut de recherches cliniques
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| Multiple triangular lunula unguis: a specific finding for the nail-patella syndrome.
| 13th February, 2008
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How are podocytes affected in nail-patella syndrome?
Nail-patella syndrome is an autosomal-dominant hereditary disease named...
Direct Link | 7th February, 2008
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