Nail-Patella Syndrome

Known as: NPS1, Turner Kieser Syndrome, Syndrome, Pelvic Horn 
A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the… (More)
National Institutes of Health

Papers overview

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2005
2005
Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the… (More)
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2005
2005
Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae… (More)
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2003
2003
Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and… (More)
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Highly Cited
2001
Highly Cited
2001
Basement membrane (BM) morphogenesis is critical for normal kidney function. Heterotrimeric type IV collagen, composed of… (More)
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2000
2000
Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal… (More)
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Highly Cited
1998
Highly Cited
1998
The LIM-homeodomain protein Lmxlb plays a central role in dorso-ventral patterning of the vertebrate limb1. Targeted disruption… (More)
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Highly Cited
1998
Highly Cited
1998
Dorsal-ventral limb patterning in vertebrates is thought to be controlled by the LIM-homeodomain protein Lmx1b which is expressed… (More)
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1998
1998
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years… (More)
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1997
1997
PURPOSE To evaluate two families ascertained only for the presence of glaucoma in which both nail-patella syndrome and glaucoma… (More)
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1988
1988
Ultrastructural renal lesions of a sporadic case of nail-patella syndrome are described. Although the patient, an 8-year-old… (More)
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