Related references
Note: Only part of the references are listed.A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation
Sally H. Cross et al.
PLOS GENETICS (2014)
Nail-patella syndrome and renal involvement: Description of three cases and literature review
A. Granata et al.
CLINICAL NEPHROLOGY (2011)
Clinico-Genetic Study of Nail-Patella Syndrome
Beom Hee Lee et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2009)
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family
Ying Lin et al.
BONE (2008)
Identification of entire LMX1B gene deletions in nail patella syndrome:: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
Ernie M. H. F. Bongers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Nail-patella syndrome and its association with glaucoma: a review of eight families
Z. Mimiwati et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2006)
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
EMHF Bongers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Nail Patella Syndrome revisited: 50 years after linkage
I McIntosh et al.
ANNALS OF HUMAN GENETICS (2005)
Functional characterization of LMX1B mutations associated with nail-patella syndrome
U Sato et al.
PEDIATRIC RESEARCH (2005)
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
JA Dunston et al.
GENOMICS (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Nail patella syndrome: a review of the phenotype aided by developmental biology
E Sweeney et al.
JOURNAL OF MEDICAL GENETICS (2003)
LMX1B transactivation and expression in nail-patella syndrome
SD Dreyer et al.
HUMAN MOLECULAR GENETICS (2000)