Results 111 to 120 of about 37,774 (292)
Karyotyping software with abnormalities detection
, 2006 Karyotyping is an arrangement of chromosomes. It helps determine if there are abnormalities through chromosome count or changes in the structure such as deletion, translocation, duplication and inversion.
Perez, Ramon Alejandro R. +4 more
core
Use of the fluid obtained by puncture of cystic hygroma: an alternative method for fetal karyotyping
, 2016 The aim of our study aim was to report the case of a fetus with Turner syndrome (TS) diagnosed by karyotype from cystic hygroma (CH) fluid, highlighting the applications and importance of this procedure.
Paulo Ricardo G. Zen (5110976) +7 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano +15 more
wiley +1 more source
, 2015 Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores.
Tamara A. Potapova +8 more
core +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
, 2019 In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Qunda Shan (6442721) +7 more
core +1 more source
Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
Building families—Implementing balanced sexual and reproductive health
International Journal of Gynecology &Obstetrics, EarlyView.Abstract One of the main initiatives of the World Health Organization (WHO) is the promotion of Sexual and Reproductive Health (SRH). Sexuality, infertility, and contraception are three interconnected pillars of SRH, each essential for achieving global equity in family planning and family building.
Peter Y. Liu +9 more
wiley +2 more sources
Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care
Epilepsia Open, EarlyView.Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley +5 more
wiley +1 more source
Balkan Journal of Medical Genetics, 2018 The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22.
Verma S +5 more
doaj +1 more source