In Autosomal Dominant Inheritance Aspx Loadfile

In Autosomal Dominant Inheritance Aspx Loadfile

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MedGen UID: 141047 • Concept ID: C0443147 • Genetic Function; Intellectual Product
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO ]
Sharma A,
Bosman LP,
Tichnell C,
Nanavati J,
Murray B,
Nonyane BAS,
Tandri H,
Calkins H,
James CA
Circ Genom Precis Med
2022 Jun;15(3):e003530.
Epub 2022 May 17
doi: 10.1161/CIRCGEN.121.003530.
PMID: 35579515
Cortés-Martín J,
Díaz-Rodríguez L,
Piqueras-Sola B,
Rodríguez-Blanque R,
Bermejo-Fernández A,
Sánchez-García JC
Int J Environ Res Public Health
2020 Aug 25;17(17)
doi: 10.3390/ijerph17176174.
PMID: 32854429 Free PMC Article
Waung MW,
Taylor A,
Qualmann KJ,
Burish MJ
JAMA Neurol
2020 Jul 1;77(7):887-896.
doi: 10.1001/jamaneurol.2020.0682.
PMID: 32310255 Free PMC Article
Gasser S,
Reichenspurner H,
Girdauskas E
BMC Cardiovasc Disord
2018 Feb 27;18(1):41.
doi: 10.1186/s12872-018-0755-y.
PMID: 29486707 Free PMC Article
Berciano J,
García A,
Gallardo E,
Peeters K,
Pelayo-Negro AL,
Álvarez-Paradelo S,
Gazulla J,
Martínez-Tames M,
Infante J,
Jordanova A
J Neurol
2017 Aug;264(8):1655-1677.
Epub 2017 Mar 31
doi: 10.1007/s00415-017-8474-3.
PMID: 28364294

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Autosomal dominant; Autosomal Dominant
Autosomal dominant inheritance (263681008); Autosomal dominant (263681008); AD - Autosomal dominant (263681008)

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