"Nail-Patella Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.
| Descriptor ID |
D009261
|
| MeSH Number(s) |
C05.550.629 C16.131.077.606 C16.320.600 C17.800.529.400
|
| Concept/Terms |
Nail-Patella Syndrome- Nail-Patella Syndrome
- Nail Patella Syndrome
- Syndrome, Nail-Patella
- Onychoosteodysplasia
- Osteo-Onychodysplasia, Hereditary
- Hereditary Osteo-Onychodysplasia
- Osteo Onychodysplasia, Hereditary
- Osteo-Onychodysplasias, Hereditary
- Hereditary Osteo-Onychodysplasias
- Pelvic Horn Syndrome
- Syndrome, Pelvic Horn
- Turner-Kieser Syndrome
- Syndrome, Turner-Kieser
- Turner Kieser Syndrome
- Hereditary Onycho-Osteodysplasia
- Fong Disease
- Disease, Fong
- Osterreicher Syndrome
- Syndrome, Osterreicher
|
Below are MeSH descriptors whose meaning is more general than "Nail-Patella Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Nail-Patella Syndrome".
This graph shows the total number of publications written about "Nail-Patella Syndrome" by people in this website by year, and whether "Nail-Patella Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 2 | 0 | 2 |
| 2000 | 1 | 0 | 1 |
| 2002 | 0 | 1 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2007 | 0 | 2 | 2 |
| 2009 | 1 | 0 | 1 |
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Below are the most recent publications written about "Nail-Patella Syndrome" by people in Profiles.
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Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. Dev Growth Differ. 2009 Apr; 51(3):241-50.
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Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy. Transgenic Res. 2007 Dec; 16(6):723-9.
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The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. Dev Biol. 2007 Apr 15; 304(2):701-12.
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A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. Eur J Hum Genet. 2005 Mar; 13(3):330-5.
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Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004 Jan 15; 124A(2):179-91.
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The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest. 2002 Apr; 109(8):1073-82.
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LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis. 2000 Jan; 26(1):15-25.
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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998 May; 19(1):51-5.
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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998 May; 19(1):47-50.