Results 151 to 160 of about 50,774 (290)
International Journal of Osteoarchaeology, EarlyView.ABSTRACT The aim of this study was to gain information on the prevalence and manifestation of hallux valgus and associated foot pathology in ancient Egyptian mummies. Additionally, we investigated possible indicators of postmortem deformation of the feet during mummification. For this study, 34 mummies that had undergone whole body computed tomography (
Stephanie Panzer +7 more
wiley +1 more source
Identifying Determinants for Neurobehavioral Morbidity in Tuberous Sclerosis Complex [PDF]
, 2013 Tuberous Sclerosis Complex (TSC) is a multisystem disorder characterized by the growth of hamartomas in multiple organ systems. The syndrome was described as early as 1835 by Rayer, and later by von Recklinghousen.
Eeghen, A.M. (Agnies) van
core
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Sclérose tubéreuse de Bourneville, recensement cantonal [PDF]
, 2015 Contexte : La sclérose tubéreuse de Bourneville (STB) est une maladie génétique dont la majorité des cas est dûe à des mutations de novo. Son incidence est approximativement de 1/6'000 nouveau-nés.
NICOD, O.
core
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Gastric Adenocarcinoma in Association with Tuberous Sclerosis Case report
Sultan Qaboos University Medical Journal, 2009 We report the first case of gastric cancer in association with tuberous sclerosis. Tuberous sclerosis is an autosomal dominant disorder which presents with a constellation of signs including benign tumours in the brain and in other vital organs such as ...
Saeed Ahmed +3 more
doaj
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik +9 more
wiley +1 more source
Morphological patterns of fetal lateral ventricular border irregularities: descriptive study
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objectives Alterations in the lateral ventricular borders have been documented in the prenatal diagnosis of certain fetal brain conditions. This study aimed to describe and classify the morphological patterns of lateral ventricular border irregularities (LVBI) and to discuss possible etiologies.
E. Hadi +12 more
wiley +1 more source
Embolic Agent Selection and Outcomes in Renal Angiomyolipoma Embolisation
Journal of Medical Imaging and Radiation Oncology, EarlyView.ABSTRACT Purpose To evaluate whether embolic agent selection influences outcomes following selective arterial embolisation (SAE) of renal angiomyolipomas (r‐AMLs) and to assess procedural safety and effects on renal function. Materials and Methods A retrospective observational study was performed of all r‐AML SAEs undertaken at a tertiary institution ...
Ross O'Shea +7 more
wiley +1 more source