Associated Papers
Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.
Banno Y et al.
Pediatric Nephrology (berlin, Germany), 2024
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.
Charng WL et al.
Journal of Medical Genetics, 2024
38663984 (PubMed )
Supplement: jmg-2024-109846supp001.xlsx › Table_S3
Diagnostic yield of exome sequencing in congenital vertical talus.
Tayebi N et al.
European Journal of Medical Genetics, 2022
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.
Zhou H et al.
Nature Communications, 2021
34521849 (PubMed )
Supplement: 41467_2021_25787_MOESM10_ESM.xlsx › Fig.4ef
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
Ghoumid J et al.
European Journal of Human Genetics : Ejhg, 2016
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Bongers EM et al.
European Journal of Human Genetics : Ejhg, 2005
Nail-patella syndrome. Overview on clinical and molecular findings.
Bongers EM et al.
Pediatric Nephrology (berlin, Germany), 2002
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh I et al.
American Journal of Human Genetics, 1998
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