Results 211 to 220 of about 1,423,917 (266)

Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis. [PDF]

Orphanet J Rare Dis
Garrison SR, Siegel IJ, Takala CR, Vaithilingam SL, Yang GW, Zoghbi AW, Hartig MM, Vadapalli S, Anderson ME.   +8 more
europepmc   +1 more source

Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis. [PDF]

Eur J Hum Genet
Schofield D, Lee E, Parmar J, Castelo Taboada A, Hobbs M, Laing N, Shrestha R.   +6 more
europepmc   +1 more source

Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases. [PDF]

Nucleic Acids Res
Lu JL, Dai Y, Ji K, Peng GX, Li H, Yan C, Shen B, Zhou XL.   +7 more
europepmc   +1 more source

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]

BMJ Open
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF, BeginNGS Consortium.   +14 more
europepmc   +1 more source

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China. [PDF]

Sci Rep
Pan L, Luo H, Huang T, Yuan H, Zou Y, Lu Q, Zeng B, Ma P, Yang Y, Huang T, Liu D, Yang B, Liu Y, Zou J, Fu F.   +14 more
europepmc   +1 more source

The development and the genetic diseases of the ciliary body. [PDF]

Cell Insight
Li B, Xie T, Nawy S, Shen Y.
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
openaire   +2 more sources

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
openaire   +2 more sources