Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease by Marcellino Verbeke, Laurens Hannes, Koen Devriendt, Kris Van den Bogaert, Bjorn Cools, Luc De Catte, Marc Gewillig, Jeroen Breckpot

“…Interestingly, a prenatal genetic diagnosis was negatively correlated with pregnancy continuation, but it was not a significant predictor for postnatal mortality, while a postnatal diagnosis of a genetic disorder impacted early but not late postnatal mortality. …”
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Insulinomas: Comprehensive Review of Epidemiology, Pathophysiology, Clinical Manifestations, Diagnostic Approaches, and Treatment Options by Joanna Rychlewska-Duda, Justyna Lisiecka, Mateusz Janik, Barbara Ufnalska, Anna Konarska, Artur Fabijański, Anna Machowiak, Michał Nowak, Wojciech Firlej, Adriana Daria Dukacz

“…Insulinomas can be sporadic or associated with Multiple Endocrine Neoplasia Type 1 (MEN-1) syndrome, a genetic disorder caused by mutations in the MEN1 gene. …”
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Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome by Marco Alfonso Perrone, Sara Moscatelli, Giulia Guglielmi, Francesco Bianco, Deborah Cappelletti, Amedeo Pellizzon, Andrea Baggiano, Enrico Emilio Diviggiano, Maria Ricci, Pier Paolo Bassareo, Akshyaya Pradhan, Giulia Elena Mandoli, Andrea Cimini, Giuseppe Caminiti

“…Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. …”
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The Prevalence and Diagnostic Ratio of Familial Hypercholesterolemia (FH) and Proportion of Acute Coronary Syndrome in Japanese FH Patients in a Healthcare Record Database Study by Tamio Teramoto, Tomohiro Sawa, Satoshi Iimuro, Hyoe Inomata, Takashi Koshimizu, Iori Sakakibara, Katsutoshi Hiramatsu

“…Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C). …”
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Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study by Narcisse Elenga, Aurélie Adeline, John Balcaen, Tania Vaz, Mélanie Calvez, Anne Terraz, Laetitia Accrombessi, Gabriel Carles

“…Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. …”
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Hepatic and renal functions of paediatric patients with thalassaemia: a cross-sectional study from two large thalassaemia centres in Sri Lanka by Meranthi Fernando, Anuja Premawardhena, Sachith Mettananda, Hashan Pathiraja, Wasana Wijenayake, Raveen Thennakoon, Dayananda Bandara, Roshitha De Silva

“…Objectives Thalassaemia is a genetic disorder of haemoglobin synthesis characterised by life-long chronic anaemia. …”
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Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson’s Disease with Diffusion Tensor Imaging by Anqin Wang, Hongli Wu, Chunsheng Xu, Lanfeng Tang, Jaeyoun Lee, Min Wang, Man Jiang, Chuanfu Li, Qi Lu, Chunyun Zhang

“…Wilson’s disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain and any other tissues. …”
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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

“…Abstract Background Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare genetic disorder characterized by movement disorders, motor and autonomic dysfunction, and developmental delays. …”
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Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview by Maciej Rutkiewicz, Sabina Przygodzka, Katarzyna Gadżała, Karolina Garbino, Katarzyna Brudniak, Antoni Szuścik, Magdalena Czyczerska

“… Familial hypercholesterolemia is a genetic disorder of lipid management, especially LDL-C. …”
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A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment by Ali Hussain Ansari, Saqib Hussain Ansari, Mubarak Jabeen Salman, Muhammad Usman Hussain Ansari, Rawshan Jabeen

“…Beta-thalassemia major (β-TM) is a genetic disorder, prevalent especially in the Mediterranean region, Southeast Asia, and the Indian subcontinent. …”
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Self-beneficial transactional social dynamics for cooperation in Shwachman-Diamond syndrome: a mixed-subject analysis using computational pragmatics by Arthur Trognon, Arthur Trognon, Arthur Trognon, Natacha Stortini, Natacha Stortini, Coralie Duman, Coralie Duman, Nami Koïdé, Ewa Skupinska, Ewa Skupinska, Hamza Altakroury, Alizée Poli, Alizée Poli, Loann Mahdar-Recorbet, Loann Mahdar-Recorbet, Blandine Beaupain, Jean Donadieu, Michel Musiol, Michel Musiol, Michel Musiol

“…BackgroundShwachman-Diamond Syndrome (SDS) is a rare genetic disorder with documented cognitive and behavioral challenges. …”
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Toward autism spectrum disorders and Williams-Beuren syndrome co-occurrence condition in Tunisian patients: Genetic insights by Rim Khelifi, Afef Jelloul, Houda Ajmi, Wafa Slimani, Sarra Dimassi, Khouloud Rjiba, Manel Dardour, Moez Gribaa, Ali Saad, Soumaya Mougou-Zerelli

“…IntroductionWilliams-Beuren syndrome (WBS) is a rare genetic disorder characterized by congenital heart defects, dysmorphic features, intellectual delay, and a distinctive social behavioral profile. …”
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A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

“…ABSTRACT Background Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability. …”
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Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2 by Charlotte Laurfelt Munch Rasmussen, Signe Frost Frederiksen, Christian Würtz Heegaard, Maj Schneider Thomsen, Eva Hede, Bartosz Laczek, Jakob Körbelin, Daniel Wüstner, Louiza Bohn Thomsen, Markus Schwaninger, Ole N. Jensen, Torben Moos, Annette Burkhart

“…Abstract Background Patients with the genetic disorder Niemann-Pick type C2 disease (NP-C2) suffer from lysosomal accumulation of cholesterol causing both systemic and severe neurological symptoms. …”
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Melanin-like nanoparticles slow cyst growth in ADPKD by dual inhibition of oxidative stress and CREB by Yongzhan Sun, Quan Zou, Huizheng Yu, Xiaoping Yi, Xudan Dou, Yu Yang, Zhiheng Liu, Hong Yang, Junya Jia, Yupeng Chen, Shao-Kai Sun, Lirong Zhang

“…Autosomal dominant polycystic kidney disease (ADPKD) is a chronic genetic disorder closely associated with increased oxidative stress and featured by the progressive enlargement of cysts originating from various segments of the renal tubules. …”
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Development of RNA interference-based therapy for rare genetic diseases by Milya Urfa Ahmad, Syarifah Dewi

“…Despite these obstacles, RNAi-based therapy holds significant potential for revolutionize the treatment of genetic disorders. …”
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. …”
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Whole exome analysis of primary immunodeficiency by E. S. Rahmani, Н. Azarpara, M. Karimipoor, Н. Rahimi

“…However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. …”
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Advances in regenerative medicine-based approaches for skin regeneration and rejuvenation by Nathalia Silva Dutra Alves, Gustavo Roncoli Reigado, Mayara Santos, Izabela Daniel Sardinha Caldeira, Henrique dos Santos Hernandes, Bruna Leticia Freitas-Marchi, Elina Zhivov, Felipe Santiago Chambergo, Viviane Abreu Nunes

“…These methods hold promise for treating a range of conditions, from chronic wounds and burns to age-related skin changes and genetic disorders. Challenges remain in optimizing these therapies for broader accessibility and ensuring long-term safety and efficacy.…”
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