Results 71 to 80 of about 18,587 (264)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

A Precision‐Delivered Singlet Oxygen Generator With an Inbuilt Safety Switch for Induction of Pancreatic Beta Cell Stress and Death

Angewandte Chemie, EarlyView.
ROXendin668 is a peptidic GLP‐1 receptor agonist that generates toxic singlet oxygen upon irradiation with far‐red light. Pancreatic beta cells can be photo‐ablated in a spatiotemporally controlled manner. This approach has the potential to provide a safer alternative to streptozotocin or alloxan for creating model systems for type 1 diabetes research.
Kilian Roßmann, Owen Bendor‐Samuel, Christopher Carlein, Kaja Rupar, Leticia Prates Roma, Ramona Birke, Tolga Soykan, Ingo Breng, Andreas Oder, Iona Davies, Ben Jones, Alice Adriaenssens, Michelle M. Martinez Irizarry, Rachael Morara, Martin Lehmann, Amelia K. Linnemann, David J. Hodson, Johannes Broichhagen   +17 more
wiley   +2 more sources

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Chromosomal Studies in Individuals with Infertility

Revista Cubana de Investigaciones Biomédicas, 2020
Introduction: Infertile individuals frequently have chromosomal alteration. Objective: To determine the chromosomal constitution of infertile individuals.Methodology: A cross-sectional descriptive study was carried out based on the results of the ...
Maria Elena de la Torre Santos, Manuela Herrera Martínez, Ana Esther Algora Hernández, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodríguez Conde, Estrella Reyes Hernández, Carolina Machado de la Torre, Daniel González Benítez   +9 more
doaj  

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Embryo aneuploidy and ivf outcomes in patients with different spermatozoa aneuploidy rates

Гинекология, 2013
Our goal was to study the 13, 18, 21, X, Y chromosomes aneuploidy rate in the embryos of the couples with different spermatozoa aneuploidy rate.In prospective cohort study 56 infertile couples were divided into 3 groups by the spermatozoa aneuploidy rate
S A Sokur, N V Dolgushina, Zh I Glinkina, A G Gorshkova, E A Kalinina   +4 more
doaj  

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source