Results 111 to 120 of about 10,250,216 (364)

Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)

International Journal of Molecular Sciences, 2020
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors.
A. Genovese, M. Butler
semanticscholar   +1 more source

Patient‐Level Barriers and Facilitators to Inpatient Physical Therapy in Adolescents and Young Adults With a Hematological Malignancy: A Qualitative Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite their increased risk for functional impairment resulting from cancer and its treatments, few adolescents and young adults (AYAs) with a hematological malignancy receive the recommended or therapeutic dose of exercise per week during inpatient hospitalizations.
Jennifer A. Kelleher, Jennifer L. Bernstein, Katia M. Crisler, Julia K. Herriott, Kimberly L. Klages, Robin E. Norris, Mariann L. Strenk, Sarah E. Bills, Meghan E. McGrady   +8 more
wiley   +1 more source

Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

Frontiers in Endocrinology, 2023
Ivo P. van de Peppel, Ivo P. van de Peppel, Serwet Demirdas, Behiye Özcan   +3 more
doaj   +1 more source

Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data

iScience
Summary: Preterm birth (birth before 37 weeks) is a major cause of neonatal mortality and is linked to various health adversities in childhood and adult life. This study investigates the genetic factors contributing to spontaneous preterm birth (sPTB) in
Esha Bhattacharjee, Ramachandran Thiruvengadam, Divyank Varshney, Jagyashila Das, Ayushi, Rishika Maji, Piyali Mondal, Supratim Ghosh, Pragya Tailor, Uma Chandra Mouli Natchu, Nitya Wadhwa, Pallavi Kshetrapal, Shinjini Bhatnagar, Arindam Maitra   +13 more
doaj   +1 more source

The Genetic Counseling Program at MCV [PDF]

, 1977
The Genetic Counseling Clinic at the Medical College of Virginia, established by Drs. Peter Mamunes and R.B. Young in 1973, has been supported since its inception by a clinical service grant from the National Foundation – March of Dimes; it is one of 83 ...
Mamunes, Peter, Nance, Walter E., Winter, Phyllis   +2 more
core   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li, Ronghua Hong, Hua You, Feiping Xu, Qingjun Zhang, Yiwen Lin, Yuting Su, Danmei Lan, Lingjing Jin, Junhui She   +9 more
wiley   +1 more source

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature [PDF]

, 2022
Giovanni Vitale, Alessandro Mattiaccio, Amalia Conti, Laura Turco, Marco Seri, Fabio Piscaglia, Maria Cristina Morelli   +6 more
openalex   +1 more source

A Comparative Study of Cerebral Oxygenation During Exercise in Hemodialysis and Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Cognitive impairment and exercise intolerance are common in dialysis patients. Cerebral perfusion and oxygenation play a major role in both cognitive function and exercise execution; HD session per se aggravates cerebral ischemia in this population. This study aimed to compare cerebral oxygenation and perfusion at rest and in mild
Marieta P. Theodorakopoulou, Konstantina Dipla, Danai Faitatzidou, Fotini Iatridi, Areti Georgiou, Artemios Karagiannidis, Erasmia Sampani, Chrysostomos Dimitriadis, Aggelos Koutlas, Andreas Zafeiridis, Pantelis Sarafidis   +10 more
wiley   +1 more source

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bogliolo, Massimo, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cadoo, Karen, Caldés, Trinidad, Caleca, Laura, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Catucci, Irene, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figlioli, Gisella, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Kiiski, Johanna I, Lasheras, Sandra Viz, Leslie, Goska, Michailidou, Kyriaki, Muranen, Taru A, Pujol, Roser   +99 more
core