Results 161 to 170 of about 24,363 (274)

Diagnóstico Genético Pré-implantação: aspetos técnicos e considerações éticas [PDF]

, 2012
Com o avanço das técnicas de Procriação Medicamente Assistida (PMA), surgiu em 1990 a primeira criança nascida após diagnóstico genético pré-implantação (DGPI).
Oliva Teles, Natália
core  

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives

Journal of Neurochemistry, Volume 170, Issue 1, January 2026.
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fabrícia Lima Fontes‐Dantas, Gustavo da Fontoura Galvão, Alexandre Martins Cunha, Pedro de Sena Murteira Pinheiro, Verônica Morandi, Jorge Marcondes de Souza   +5 more
wiley   +1 more source

Chromatin establishes an immature version of neuronal protocadherin selection during the naive-to-primed conversion of pluripotent stem cells. [PDF]

, 2019
In the mammalian genome, the clustered protocadherin (cPCDH) locus provides a paradigm for stochastic gene expression with the potential to generate a unique cPCDH combination in every neuron.
Allegue, Catarina, Almenar-Queralt, Angels, Bohaciakova, Dasa, Chaves, Rodrigo S, Chen, Andrew G, Dittrich, Marcus, Driscoll, Shawn P, El Hajj, Nady, Fong, Lauren K, Garcia-Bassets, Ivan, Goldstein, Lawrence SB, Hruska-Plochan, Marian, Kim, Hong Sook, Kohlnhofer, Bridget, Ma, Qi, Mackintosh, Carlos, Marsala, Martin, Merkurjev, Daria, Navarro, Michael, Tadokoro, Takahiro, Woodruff, Grace, Young, Jessica E   +21 more
core  

Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome

Case Reports in Cardiology, Volume 2026, Issue 1, 2026.
Alagille syndrome is a rare multisystemic genetic condition most commonly associated with neonatal liver disease. Variable expressivity is a defining feature of Alagille syndrome, resulting in a broad spectrum of phenotypic variation among individuals who meet the diagnostic criteria. We present an atypical case of cardiac‐predominant Alagille syndrome
Matthew K. Campbell, Jessica Hallam, Samuel L. Casella, Sangeeta Shah, Kathleen Ngu   +4 more
wiley   +1 more source

Preimplantation genetic testing for aneuploidies screening is not diagnostic

F&S Reports, 2022
David H. Barad, M.D
doaj   +1 more source

Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences? [PDF]

, 2016
Paul R. Brezina, Raymond M. Anchan, W.G. Kearns   +2 more
openalex   +1 more source

Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.‐191T > C

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare autosomal dominantly inherited gastric cancer syndrome that is characterized by fundic gland polyposis of the stomach (> 100) and an increased risk of gastric cancer. The genetic cause is recognized as a pathogenic variant in the promotor 1B of the APC gene. Presently, there
P. A. Skat-Rørdam, A. M. Jelsig, J. G. Karstensen, A. H. Petersen, M. B. Madsen, T. D. Jensen, Balraj Mittal   +6 more
wiley   +1 more source

Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?

BMC Pregnancy and Childbirth
Objective To determine whether non-invasive prenatal testing is an alternative testing option to preimplantation genetic testing (PGT) in pregnant patients. Methods This was a retrospective study of the clinical outcomes of patients who underwent PGT and
Yunhao Liang, Meiyi Li, Jia Fei, Zhiheng Chen   +3 more
doaj   +1 more source

The new (liberal) eugenics [PDF]

Despite the Nazi horrors, in 1953 the new eugenics was founded, when Watson and Crick postulated the double helix of DNA as the basis of chemical heredity.
Sfetcu, Nicolae
core  

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source