Results 51 to 60 of about 9,097 (228)

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial [PDF]

, 2016
Background Early cognitive intervention is the only routine therapeutic approach used for amelioration of intellectual deficits in individuals with Down's syndrome, but its effects are limited.
Benejam, Bessy, Blanco Hinojo, Laura, Blehaut, Henri, Cuenca Royo, Aida, De la Torre Fornell, Rafael, de Sola Llopis, Susana, del Hoyo, Laura, Dierssen, Mara, Farré, Magí, Hernández, Gimena, Janel, Nathalie, Langohr, Klaus, Sanchez Benavides, Gonzalo, Videla, Sebastià, Xicota, Laura   +14 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations [PDF]

, 1995
Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype.
Berg, C.D.F. (Cardi) van den, Brandenburg, H. (Helen), Jahoda, M.G. (M.), Los, F.J., Van Opstal, A.R.M. (Diane), Veld, P.A. (Peter) in't   +5 more
core   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Uniparental Disomy and Genomic Imprinting in Humans [PDF]

, 2017
Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans.
Schinzel, A.
core  

Identification of Paternal Uniparental Disomy on Chromosome 22 and a De-novo Deletion on Chromosome 18 in Individuals with Orofacial Clefts [PDF]

, 2018
Background: Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits.Methods: We recently conducted genotyping of individuals from the African ...
Abate, Firke, Abdur-Rahman, Lukman Olajide, Adeyemo, Adebowale, Adeyemo, Wasiu L., Aregbesola, Babatunde S., Audu, Rosemary, Bello, Saidu A., Busch, Tamara D., Butali, Azeez, Donkor, Peter, Eshete, Mekonen A., Gowans, Lord J. J., Halilu, Taiye, Jain, Deepti, Laurie, Cathy C., Laurie, Cecelia A., Marazita, Mary L., Mossey, Peter, Murray, Jeffrey C., Obiri-Yeboah, Solomon, Oginni, Fadekemi, Ogunlewe, Olugbenga M., Oladugba, Abimbola V ., Olaitan, Peter Babatunde, Olutayo, James, Onwuamah, Chika K., Oseni, Ganiyu O., Owais, Arwa, Plange-Rhule, Gyikua   +28 more
core   +2 more sources

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Chromosome Missegregation and Trisomy 21 Mosaicism in Alzheimer's Disease

Neurobiology of Disease, 1999
A connection between Alzheimer's disease (AD) and Down syndrome (trisomy 21) is indicated by the fact that all Down syndrome individuals develop Alzheimer's disease neuropathology by the 4th decade of life. Previous studies have examined the frequency of aneuploidy and other chromosomal defects in cells from familial Alzheimer's disease (FAD) patients,
Lisa N. Geller, Huntington Potter
openaire   +3 more sources