Results 141 to 150 of about 17,833 (262)

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions. [PDF]

Hum Mutat
Rraku E, Medina TD, van Ravenswaaij-Arts CMA, Slofstra MK, Swertz MA, Dijkhuizen T, Johansson LF, Engwerda A.   +7 more
europepmc   +1 more source

The role of rare copy number variants in early‐onset depression

JCPP Advances, EarlyView.
Abstract Background Depression is a highly heterogeneous condition. Depression with an onset in childhood and early adolescence has a worse clinical course, is more heritable, and shows a lower genetic correlation with other depression subtypes, than does later‐onset depression.
Charlotte A. Dennison, Ida Sønderby, Miguel Garcia‐Argibay, Victoria Powell, Amy Shakeshaft, Lucy Riglin, Elliott Rees, Michael O’Donovan, Henrik Larsson, Ole Andreassen, Alexandra Havdahl, Joanna Martin, Anita Thapar   +12 more
wiley   +1 more source

Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome. [PDF]

Biomedicines
Valeva R, Levkova M, Yahya D, Hachmeriyan M, Micheva I.   +4 more
europepmc   +1 more source

Isolating transdiagnostic effects reveals specific genetic profiles in psychiatric disorders

JCPP Advances, EarlyView.
Abstract Background Evidence indicates substantial genetic overlap between psychiatric diagnoses. Accounting for these transdiagnostic effects can sharpen research on disorder‐specific genetic architecture and patterns of comorbidity. Methods We applied genomic structural equation modeling to genome‐wide association study summary statistics from 11 ...
Engin Keser, Wangjingyi Liao, Andrea G. Allegrini, Kaili Rimfeld, Thalia C. Eley, Robert Plomin, Margherita Malanchini   +6 more
wiley   +1 more source

Fetal Heart Rate at 12 Weeks' Gestation and the Risk of Preterm Birth

Journal of Ultrasound in Medicine, EarlyView.
Objectives To prospectively validate the association between fetal heart rate (FHR) at the 12‐week scan and the risk of preterm birth (PTB), including spontaneous preterm birth (sPTB). Methods This prospective cohort study included 1276 singleton pregnancies undergoing routine first‐trimester screening at 11–13 + 6 weeks' gestation and followed until ...
José Morales‐Roselló, Alicia Soriano‐Payá, Blanca Novillo‐Del Álamo, Alicia Martínez‐Varea   +3 more
wiley   +1 more source

Persons with epilepsy have an elevated radiosensitivity, which may be mitigated by folic acid. [PDF]

J Neurol
Kleber M, Kuhlmann LCF, Knabe A, Lainer J, Schwab S, Hamer HM, Corradini S, Distel L, Stritzelberger J.   +8 more
europepmc   +1 more source

The Natural History of Residual and Recurrent Disease in Advanced Juvenile Nasopharyngeal Angiofibroma: A Systematic Review

The Laryngoscope, EarlyView.
Residual and recurrent disease in advanced juvenile nasopharyngeal angiofibromas (JNAs) demonstrate spontaneous involution, reduction in size, or long‐term stability following initial treatment in 95% of patients. In this systematic review of 131 patients with advanced JNA, only 2% of patients demonstrated disease progression during surveillance, but ...
Shivani Angelique Kumar, Peter Petocz, Raewyn G. Campbell   +2 more
wiley   +1 more source

Low-dose X-Ray induced genetic damage in human peripheral blood lymphocytes. [PDF]

Front Genet
Villalba-Rondón LC, Vélez-Lemus L, Jaramillo-Garzón W, Pulido-Medellín M, Rangel N, Rondón-Lagos M.   +5 more
europepmc   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism. [PDF]

Mol Cytogenet
Dittrich T, Wenzel R, Beck A, Dahlum S, Siebert R, Friebe-Hoffmann U, Bens S.   +6 more
europepmc   +1 more source