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Clinical Characteristics of Multiple Café-Au-Lait Macules and Their Potential Significance in the Early Screening of Genetic Diseases. [PDF]

Clin Cosmet Investig Dermatol
Chen T, Wu J, Yang X, Xia Z, Yang R.
europepmc   +1 more source

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review. [PDF]

Genes (Basel)
Gozdek M, Mucha S, Prostek A, Sadkowski T.   +3 more
europepmc   +1 more source

SV4GD: a comprehensive structural variation database specially for genetic diseases. [PDF]

Nucleic Acids Res
Shi L, Zhang S, Li Y, Li H, Wang X, Du M, Zhang M, Ke L, Zhang Y, Xu C, Tan S, Zhang Z, Zhang D, Wang J, Qi C, Liu X, Wang X, Qian K, Cheng L, Zhang X.   +19 more
europepmc   +1 more source

Author Correction: Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs. [PDF]

Commun Biol
Baylot V, Le TK, Taïeb D, Rocchi P, Colleaux L.   +4 more
europepmc   +1 more source

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Genetics of Dupuytren's disease

Joint Bone Spine, 2012
Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe.
Michou, Laëtitia, Lermusiaux, Jean-Luc, Teyssedou, Jean-Pierre, Bardin, Thomas, Beaudreuil, Johann, Petit-Teixeira, Elisabeth   +5 more
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Genetics of Parkinson's disease

Acta Neurologica Belgica, 2020
Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease has improved by leaps and bounds. About 5-10% of all patients suffer from a monogenic form of PD where mutations in autosomal-dominant (AD) genes-SNCA, LRRK2, and VPS35 and
Ajith Cherian, K. P. Divya
openaire   +2 more sources

Genetics of Alzheimer’s disease

Essays in Biochemistry, 1998
Mutations in any one of three genes can cause autosomal dominant, early-onset Alzheimer's disease: these genes are the amyloid precursor protein (APP) gene on chromosome 21, the presenilin-1 (PS-1) gene on chromosome 14 and the presenilin-2 (PS-2) gene on chromosome 1.
M, Hutton, J, Pérez-Tur, J, Hardy
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Genetics of Wilsons disease

Parkinsonism & Related Disorders, 2010
Wilson's disease is a rare autosomal recessive disorder of copper transport due to mutations in the ATP7B gene, responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin resulting in excessive accumulation of copper in the liver and extrahepatic tissues.
Madhuri, Behari, Vibhor, Pardasani
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The genetics of Parkinson disease

Ageing Research Reviews, 2018
About 15% of patients with Parkinson disease (PD) have family history and 5-10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association ...
Hao, Deng, Peng, Wang, Joseph, Jankovic
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