Cargando…

Mosaic Turner syndrome shows reduced penetrance in an adult population study

PURPOSE: Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated. METHODS: We characterized the prevalence and phenotypic consequences of X chromosome an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tuke, Marcus A., Ruth, Katherine S., Wood, Andrew R., Beaumont, Robin N., Tyrrell, Jessica, Jones, Samuel E., Yaghootkar, Hanieh, Turner, Claire L. S., Donohoe, Mollie E., Brooke, Antonia M., Collinson, Morag N., Freathy, Rachel M., Weedon, Michael N., Frayling, Timothy M., Murray, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752315/ https://www.ncbi.nlm.nih.gov/pubmed/30181606 http://dx.doi.org/10.1038/s41436-018-0271-6

Ejemplares similares

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health
por: Ruth, Katherine S., et al.
Publicado: (2016)

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively
por: Wood, Andrew R., et al.
Publicado: (2016)

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank
por: Tyrrell, Jessica, et al.
Publicado: (2016)

Parental diabetes and birthweight in 236 030 individuals in the UK Biobank Study
por: Tyrrell, Jessica S, et al.
Publicado: (2013)

Gene–obesogenic environment interactions in the UK Biobank study
por: Tyrrell, Jessica, et al.
Publicado: (2017)

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
por: Wright, Caroline F., et al.
Publicado: (2019)

Using genetics to understand the causal influence of higher BMI on depression
por: Tyrrell, Jessica, et al.
Publicado: (2019)

Higher adiposity and mental health: causal inference using Mendelian randomization
por: Casanova, Francesco, et al.
Publicado: (2021)

Genetic evidence that higher central adiposity causes gastro-oesophageal reflux disease: a Mendelian randomization study
por: Green, Harry D, et al.
Publicado: (2020)

Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants
por: Pilling, Luke C., et al.
Publicado: (2016)

A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure
por: Frayling, Timothy M., et al.
Publicado: (2018)

Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
por: Kingdom, Rebecca, et al.
Publicado: (2022)

Recent progress in the use of genetics to understand links between type 2 diabetes and related metabolic traits
por: Yaghootkar, Hanieh, et al.
Publicado: (2013)

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers
por: Pilling, Luke C., et al.
Publicado: (2017)

Coarctation of Aorta in Turner Mosaicism
por: Gorito, Vanessa, et al.
Publicado: (2021)

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci
por: Jones, Samuel E., et al.
Publicado: (2016)

Mosaic Turner syndrome associated with schizophrenia
por: Jung, Sook Young, et al.
Publicado: (2014)

A Rare Case of Hashimoto’s Encephalopathy With Mosaic Turner Syndrome
por: Chelikani, Vijaya, et al.
Publicado: (2022)

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype
por: George, Sigin, et al.
Publicado: (2023)

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
por: Mirshahi, Uyenlinh L, et al.
Publicado: (2022)

Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
por: Pereira, Ester, et al.
Publicado: (2014)

Isochromosome Mosaic Turner Syndrome: A Case Report
por: Llanes, Mark Ramon Victor, et al.
Publicado: (2019)

Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus
por: Alhajjaj, Alya, et al.
Publicado: (2021)

A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population
por: Freathy, Rachel M, et al.
Publicado: (2006)

Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome
por: El-Eshmawy, Mervat M., et al.
Publicado: (2013)

Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour
por: Jones, Samuel E., et al.
Publicado: (2019)

A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor
por: Green, Harry D., et al.
Publicado: (2021)

Identification and analysis of individuals who deviate from their genetically-predicted phenotype
por: Hawkes, Gareth, et al.
Publicado: (2023)

Identification and analysis of individuals who deviate from their genetically-predicted phenotype
por: Hawkes, Gareth, et al.
Publicado: (2023)

Higher maternal adiposity reduces offspring birthweight if associated with a metabolically favourable profile
por: Thompson, William D., et al.
Publicado: (2021)

Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight
por: Thompson, William D, et al.
Publicado: (2021)

Concurrent insulinoma with mosaic Turner syndrome: A case report
por: WANG, SHAOYUN, et al.
Publicado: (2015)

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
por: Rasouli, Melody, et al.
Publicado: (2019)

Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome
por: Thunström, Sofia, et al.
Publicado: (2019)

Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms
por: Jones, Samuel E., et al.
Publicado: (2019)

A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin–creatinine ratio
por: Casanova, Francesco, et al.
Publicado: (2019)

A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney
por: Pritti, Kumari, et al.
Publicado: (2022)

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
por: Soares, Jéssica Silva, et al.
Publicado: (2021)

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
por: Mazzaschi, Roberto L. P., et al.
Publicado: (2014)

A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy
por: Freathy, Rachel M., et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_dphkae3a0cdltgla8r9l02lfg6