Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

Premature ovarian failure (POF) is a frequent pathology affecting 1-1.5% of women under 40 years old. Despite advances in diagnosing and treating human infertility, POF is still classified as being idiopathic in 50-80% of cases, strongly suggesting a genetic origin for the disease. Different types o...

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Autores:

Tipo de recurso:

Fecha de publicación:

2015

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/22604

Acceso en línea:

https://doi.org/10.1016/j.mce.2015.05.005
https://repository.urosario.edu.co/handle/10336/22604

Palabra clave:

Bone morphogenetic protein 15
Follitropin receptor
Luteinizing hormone receptor
Steroidogenic factor 1
Adamts19 gene
Bmp15 gene
Bmpr2 gene
Cited2 gene
Figla gene
Foxl2 gene
Fshr gene
Gene
Gene control
Gene dosage
Gene expression
Gene identification
Gene mutation
Genetic association
Genetic code
Genetic linkage
Genetic variability
Heritability
Human
Lhcgr gene
Nanos3 gene
Next generation sequencing
Nobox gene
Nonhuman
Nr5a1 gene
Ovary follicle development
Phenotype
Premature ovarian failure
Priority journal
Promoter region
Protein function
Quantitative trait locus
Reproduction
Reproductive fitness
Review
Sex determination
Stag3 gene
Early menopause
Female
Genetics
High throughput sequencing
Mutation
Premature ovarian failure
Female
Genetic linkage
High-throughput nucleotide sequencing
Humans
Mutation
Primary ovarian insufficiency
Female infertility
Genetic aetiology
Next generation sequencing
Premature ovarian failure
premature
Menopause

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