Results 41 to 50 of about 8,344 (152)

Association Between Blood Transfusion for Postpartum Haemorrhage and the Risk of Premature Ovarian Failure: A Nationwide Population‐Based Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate the association between postpartum haemorrhage (PPH) severity and the subsequent risk of premature ovarian failure (POF), with blood transfusion used as a marker of severe PPH: Design Nationwide population‐based retrospective cohort study. Setting Korean National Health Insurance Service (KNHIS) database.
Min‐A Kim, Ju Hyeong Son, Hyun‐Joo Seol, Min‐Jeong Oh, Geum Joon Cho, Young‐Han Kim   +5 more
wiley   +1 more source

Associated features in females with an FMR1 premutation [PDF]

, 2014
Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI ...
Greenberg, Jan, Molly Losh, John M Olichney, Wheeler, Anne C, Mailick, Marsha, Bailey Jr, Donald B, Smith, Leann, Summers, Scott, Sherman, Stephanie, Olichney, John M, Losh, Molly, Randi Hagerman, Bailey, Donald B, Jr, Laia Rodriguez-Revenga, Montserrat Milà, Scott Summers, Hagerman, Randi, Stephanie Sherman, Donald B Bailey Jr, Elizabeth Berry-Kravis, Leann Smith, Jin-Chen Yang, Anne C Wheeler, Marsha Mailick, Berry-Kravis, Elizabeth, Rodriguez-Revenga, Laia, Wheeler, Anne, Yang, Jin-Chen, Milà, Montserrat, Jan Greenberg   +29 more
core   +1 more source

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
doaj   +1 more source

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion

Frontiers in Neurology, 2023
ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis, Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Tamar Kowal, Sivan David, Yonit Banet-Levi, Shahar Shefer, Daniel Gabis, Dana Mula-Topf, Michal Avrech Bar, Orit Bart, Osnat Segal   +13 more
doaj   +1 more source

Clinical and laboratory characteristics of the study (carriers of FMR1 premutation) and control groups.

, 2014
Clinical and laboratory characteristics of the study (carriers of FMR1 premutation) and control groups.
Oshrit Lebovitz (621449), Raoul Orvieto (621454), Yoram Cohen (267115), Shai E. Elizur (621448), Olga Dratviman-Storobinsky (621451), Sanaz Derech-Haim (621450), Jehoshua Dor (621453), Baruch Feldman (621452)   +7 more
core   +1 more source

Altered expression of the FMR1 splicing variants landscape in premutation carriers [PDF]

, 2017
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder.
Tang, Hiu-Tung, Flora Tassone, AlOlaby, Reem Rafik, Reem Rafik AlOlaby, Tseng, Elizabeth, Luke Hickey, Hiu-Tung Tang, Tassone, Flora, Elizabeth Tseng, Hickey, Luke   +9 more
core   +1 more source

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.

PLoS ONE, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Milo Careaga, Destanie Rose, Flora Tassone, Robert F Berman, Randi Hagerman, Paul Ashwood   +5 more
doaj   +1 more source

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

Neurobiology of Disease, 2014
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1).
Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill   +7 more
doaj   +1 more source

Prosodic Differences in Women with the FMR1 Premutation: Subtle Expression of Autism-Related Phenotypes Through Speech. [PDF]

Int J Mol Sci
Evidence suggests that carriers of FMR1 mutations (e.g., fragile X syndrome and the FMR1 premutation) may demonstrate specific phenotypic patterns shared with autism (AU), particularly in the domain of pragmatic language, which involves the use of ...
Lau JCY, Guilfoyle J, Crawford S, Johnson G, Landau E, Xing J, Kumareswaran M, Ethridge S, Butler M, Goldman L, Martin GE, Zhou L, Krizman J, Nicol T, Kraus N, Berry-Kravis E, Losh M.   +16 more
europepmc   +2 more sources

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, Volume 175, Issue 1, Page 26-47, October 2026.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source