Results 121 to 130 of about 4,251,743 (354)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The role of the genetic counsellor: a systematic review of research evidence [PDF]

, 2014
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser, C Bennett, C Cordier, C James, Caroline Benjamin, Charlotta Ingvoldstad, Christophe Cordier, D Roter, E Pergament, E Smets, H Skirton, Heather Skirton, J Hartley, J Hodgson, J Ingles, JGR Kromberg, JGR Kromberg, KA Hines, KP Powell, L Ellington, LM Kmet, Nicolas Taris, P McCarthy-Veach, R Resta, RG Resta, SJ Lepore, V Braun, V Hannig   +27 more
core   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Prenatal diagnosis. Ethics - counselling [PDF]

, 2008
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenDuring the last years great progress has been made in the field of prenatal diagnosis. The possibility of monitoring the growth, development and well being of
Ingileif Malmberg
core  

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Epidemiology of gastroschisis: A population-based study in California from 1995 to 2012. [PDF]

, 2018
BackgroundAlthough the incidence of gastroschisis is increasing, risk factors are not clearly identified.MethodsUsing the Linked Birth Database from the California Office of Statewide Health Planning and Development from 1995 to 2012, patients with ...
Anderson, Jamie E, Cheng, Yvonne, Galganski, Laura A, Hirose, Shinjiro, Saadai, Payam, Stark, Rebecca A, Stephenson, Jacob T   +6 more
core  

Trabecular bone ontogeny of the human talus

The Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid, Catriona Davies, Craig Cunningham   +2 more
wiley   +1 more source