A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Sex determination, gonadal sex differentiation, and plasticity in vertebrate species
Y Nagahama, T Chakraborty… - Physiological …, 2021 - journals.physiology.org
A diverse array of sex determination (SD) mechanisms, encompassing environmental to
genetic, have been found to exist among vertebrates, covering a spectrum from fixed SD …
genetic, have been found to exist among vertebrates, covering a spectrum from fixed SD …
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice
SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
[HTML][HTML] Effect of genetic diagnosis on patients with previously undiagnosed disease
K Splinter, DR Adams, CA Bacino… - … England Journal of …, 2018 - Mass Medical Soc
Background Many patients remain without a diagnosis despite extensive medical
evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a …
evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a …
Genetics of human female infertility
SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …
term. Female factors alone account for at least 35% of all infertility cases and comprise a …
A systematic review and standardized clinical validity assessment of male infertility genes
MS Oud, L Volozonoka, RM Smits… - Human …, 2019 - academic.oup.com
STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …
Model organisms facilitate rare disease diagnosis and therapeutic research
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …
involve the use of next-generation sequencing and comparative genomic hybridization …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
[HTML][HTML] Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
C Kouri, G Sommer, IM de Lapiscina, RN Elzenaty… - …, 2024 - thelancet.com
Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …
Primary adrenal insufficiency: New genetic causes and their long‐term consequences
F Buonocore, JC Achermann - Clinical endocrinology, 2020 - Wiley Online Library
Primary adrenal insufficiency (PAI) is a potentially life‐threatening condition that requires
urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal …
urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal …