Results 111 to 120 of about 39,956 (278)
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs +13 more
wiley +1 more source
Pediatric Investigation, EarlyView.Pediatric nasal skull base tumors present diagnostic and therapeutic challenges due to their deep location, nonspecific symptoms, and the narrow nasal cavity in children. Although artificial intelligence (AI) and digital medicine have advanced early diagnosis, multidisciplinary treatment, and prognosis, their application in these rare tumors remains ...
Xiuping Wu +5 more
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy
Clinical Genetics, EarlyView.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Advances in evaluating the fetal skeleton
International Journal of Women's Health, 2014 Ann-Edwidge Noel, Richard N BrownDivision of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, McGill University, Montreal, QC, CanadaAbstract: In this review, we discuss aspects of the prenatal diagnosis of fetal skeletal malformations ...
Noel AE, Brown RN
doaj
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia
, 2016 We report on a boy with a neonatal short limb skeletal dysplasia with serious medical complications, associated with one intragenic and one complete deletion of XYLT1.
Bakx, Roel +5 more
core +1 more source