Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report. [PDF]
Clin Case Rep, 2021 Onur P, Shaver M, Iqbal MA.
europepmc +1 more source
Estudo epidemiológico de malformações congênitas na Maternidade Carmela Dutra: período de 01 de setembro de 1992 a 31 de agosto de 1997. [PDF]
, 1998 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Guimarães, Márcia Regina
core
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
Multiple Congenital Abnormalities [PDF]
Proceedings of the Royal Society of Medicine, 1948 openaire +2 more sources
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
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Congenital abnormalities of platelet membrane glycoproteins
Journal of Associated Medical Sciences, 2010 -
Preeyanat Vongchan
doaj
Fetal thoracic MRI: Spectrum of Congenital Abnormalities with Pathological Correlation
, 2007 PURPOSE/AIM: TO review a wide spectrum of fetal thoracic pathology with pathological correlation and TO demonstrate the accuracy of prenatal MRI IN the characterization of congenital thoracic abnormalities CONTENT ORGANIZATION: Between 2000 and 2007, 43 ...
Laswed, T. +6 more
core
Animal models of chronic thromboembolic pulmonary hypertension
Animal Models and Experimental Medicine, EarlyView.Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu +5 more
wiley +1 more source
Statistical shape modeling of the human inner ear through micro‐computed tomography imaging
The Anatomical Record, EarlyView.In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere +8 more
wiley +1 more source