Results 111 to 120 of about 92,125 (157)

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Sex as a biological variable in human dental pulp stem cells: An exploratory epigenomic and transcriptomic comparison. [PDF]

Regen Ther
Yamada S, Holomková K, Al-Sharabi N, Qiu T, Egusa H, Fristad I, Angelova Volponi A.   +6 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Aneuploidy in exfoliated buccal cells: mechanisms, methods, and future perspectives. [PDF]

Mutagenesis
Kirsch-Volders M, Mišík M, Fenech M.
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Spectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

The International Glossary on Infertility and Fertility Care, 2025†. [PDF]

Hum Reprod
Zegers-Hochschild F, Dyer S, Adamson GD, Baker V, Barnhart K, Bhattacharya S, Boothroyd C, Chambers G, De Mouzon J, Elgindy E, Fauser B, Hammarberg K, Horton M, Ishihara O, Jwa SC, Khrouf M, Kupka M, Lamb DJ, Luna M, Martinez AG, Monseur B, Nagy P, Pinborg A, Racowsky C, Rienzi L, Schlegel P, Schmidt L, Vuong LN, Turner T, Vázquez-Levin MH, Wada I, Wells D, Wyns C.   +32 more
europepmc   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

XPF-like domain in human SHOC1 is required for crossover formation and protecting autosome from MSUC. [PDF]

Nucleic Acids Res
Zhang Y, Sun Q, Ji Z, Mo R, Zhou Y, Zhao J, Xu S, Li N, Sun Y, Bai H, Zhi E, Han S, Chen H, Zhang J, Qian D, Bu X, Huang Y, Tian R, Guo Y, Lv J, Zhao L, Yang C, Zhao F, Li P, Zhou Z, Li Z, Yao C.   +26 more
europepmc   +1 more source