Results 51 to 60 of about 13,759 (208)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants

Children, 2022
Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory ...
Benjamin Eurich, Catharina Nitsche, Margot Lau, Britta Hanker, Juliane Spiegler, Guido Stichtenoth   +5 more
doaj   +1 more source

Schmallenberg virus: emergence of an Orthobunyavirus among ruminants in Western Europe [PDF]

, 2012
Recently, a novel virus has been identified among ruminants in Western Europe. This virus, the so-called Schmallenberg virus, belongs to the family Bunyaviridae, genus Orthobunyavirus, serogroup Simbu and is closely related to Akabane, Aino and Shamonda ...
Bertels, Guido, Cay, Ann Brigitte, Nauwynck, Hans, Steukers, Lennert   +3 more
core  

Fetal Surveillance in Pregnancies with Myasthenia Gravis

Medicina, 2021
Myasthenia gravis (MG) is an autoimmune condition, that commonly impacts adult women of reproductive age. Myasthenia gravis in pregnancy is rare, but the incidence is higher in different geographical areas.
Brîndușa Ana Cimpoca-Raptis, Anca Marina Ciobanu, Nicolae Gica, Gheorghe Peltecu, Dan Mitrea, Anca Maria Panaitescu   +5 more
doaj   +1 more source

Pregnancy Decision‐Making Among Women With Physical Disabilities: Cross‐Sectional Survey Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective Understand the pregnancy informational needs and decision‐making of women with physical disabilities. Design Cross‐sectional. Setting Community. Sample 114 adult American women with physical disabilities who had experience making a decision about pregnancy while disabled. Methods Online survey.
Claire Z. Kalpakjian, Susan D. Ernst, Heidi J. Haapala, Melissa L. Barber, Brittany R. Orians, Lukonde Mulenga, Shannen M. McIntosh, Julia Shah, Jodi M. Kreschmer, Rebecca Parten, Sara Rosenblum, Gina M. Jay   +11 more
wiley   +1 more source

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations [PDF]

, 2016
The autosomal recessive spinocerebellar ataxias are an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum.
Bettencourt, C, Hersheson, J, Houlden, H, Wiethoff, S, Wood, NW   +4 more
core   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

A Case Report of Nail-Patella Syndrome

罕见病研究, 2023
Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail ...
CHEN Dan, SUN Liying, ZHONG Wenyao, TIAN Wen   +3 more
doaj   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects

Autopsy and Case Reports, 2021
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies.
Meghan Elizabeth Kapp, Pamela Lyle, Hilary Highfield Nickols   +2 more
doaj