Results 31 to 40 of about 37,403 (228)
Genetic heterogeneity in corpus callosum agenesis
Frontiers in Genetics, 2022 The corpus callosum is the largest white matter structure connecting the two cerebral hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most common cerebral malformations in humans with a reported incidence ranging ...
Monica-Cristina Pânzaru +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
RARE ANATOMIC VARIATIONS: AGENESIS OF LEFT MENTAL FORAMEN COEXISTING WITH TWO RIGHT MENTAL FORAMINA [PDF]
Journal of IMABKnowledge about the proximity of important anatomical structures is crucial for all surgical interventions, including those in the lower jaw region.
Dimitar Yovchev +3 more
doaj +1 more source
A Glimpse Towards the Vestigiality and Fate of Human Vermiform Appendix-A Histomorphometric Study [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: The vermiform appendix in human is considered to be a vestigial organ by most of the authors. Absence of appendix is already reported in Indian population.
Aniruddha Sarkar +4 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
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 +13 more
wiley +1 more source
Multidisciplinary treatment of congenitally missing maxillary lateral incisors: a case report
Bioscience Journal, 2015 Congenital tooth agenesis and tooth loss due to dental traumatism are some of the most common causes leading to rehabilitation of young patients with dental implants. The success of treating congenitally missing teeth with implant-supported prosthesis is
Analice Giovani Pereira +7 more
doaj +3 more sources
Agenesis of isthmus of thyroid gland - a case report
National Journal of Clinical Anatomy, 2012 A wide range of morphological varieties and developmental anomalies of the thyroid gland have been reported in literature such as hypoplasia, ectopic thyroid, hemi agenesis and agenesis.
Shailajashetty +2 more
doaj +1 more source