Results 91 to 100 of about 22,198 (205)

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks. [PDF]

BMC Pregnancy Childbirth, 2021
Shen S, Xiao W, Zhang L, Lu J, Funk A, He J, Tu S, Yu J, Yang L, Fontanet A, Bao W, Cheng KK, Qiu X.   +12 more
europepmc   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink   +6 more
wiley   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Congenital disorders. Microcephalia [PDF]

Orvosi Hetilap, 2011
József Gábor, Joó, Akos, Csaba, Miklós, Németh, Zoltán, Langmár   +3 more
openaire   +2 more sources

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Infants' General Movements Were Not Affected by Exposure to Maternal Severe Acute Respiratory Syndrome Coronavirus 2 Infections

Acta Paediatrica, Volume 115, Issue 4, Page 913-922, April 2026.
ABSTRACT Aim Prenatal maternal infections may impair infant brain development. This study investigated the effect of maternal infections with the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) during pregnancy on infant neurodevelopment by assessing general movements (GMs).
Kathrin Neumayr, Katharina Lippert, A. Sebastian Schroeder, Vinzenz G. Eck, Uta Tacke, Sevil Üzer, Andreas W. Flemmer, Mathias Klemme, Claudia Nussbaum, Nikolas Hesse, Sergi Pujades, Leander Behr, Sonja Strieker, Florian Heinen, Mirjam N. Landgraf   +14 more
wiley   +1 more source

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

BMC Medical Genomics
Background CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders, Andrew C. Edmondson, Albert C. Yan, Diva D. De Leon   +3 more
doaj   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source