Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever by Rudy Feghali, José-Noel Ibrahim, Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh, Tony Yammine, Alain Chebly, Alain Chebly

“…A retrospective analysis was conducted on 3,167 patients referred for MEFV sequencing at the Medical Genetics and Genomics Center(CGGM) at Saint-Joseph University of Beirut-Lebanon, from 2006 to 2023. …”
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Scalp-Ear-Nipple Syndrome: A Case Report by Estela Morales-Peralta, Vivian Andrés, Dainé Campillo Betancourt

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Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16 by О. Yu. Vasilyeva, E. N. Tolmacheva, A. E. Dmitriev, Ya. A. Darkova, E. A. Sazhenova, T. V. Nikitina, I. N. Lebedev, S. A. Vasilyev

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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

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Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy by V. V. Demeneva, E. N. Tolmacheva, T. V. Nikitina, E. A. Sazhenova, S. Yu. Yuriev, A. Sh. Makhmutkhodzhaev, A. S. Zuev, S. A. Filatova, A. E. Dmitriev, Ya. A. Darkova, L. P. Nazarenko, I. N. Lebedev, S. A. Vasilyev

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Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder by Ashley Cannon, Svetlana Kurklinsky, Kimberly J. Guthrie, Douglas L. Riegert-Johnson

“…Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics. Pelvic floor retraining with biofeedback should be considered for patients with a SCN9A channelopathy and constipation.…”
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Comparative cytogenetics of anembryonic pregnancies and missed abortions in human by T. V. Nikitina, E. A. Sazhenova, E. N. Tolmacheva, N. N. Sukhanova, S. A. Vasilyev, I. N. Lebedev

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Lipid Coating Modulates Effects of Nanoceria on Oxidative Metabolism in Human Embryonic Lung Fibroblasts: A Case of Cardiolipin by Elena V. Proskurnina, Madina M. Sozarukova, Elizaveta S. Ershova, Ekaterina A. Savinova, Larisa V. Kameneva, Natalia N. Veiko, Maria A. Teplonogova, Vladimir P. Saprykin, Vladimir K. Ivanov, Svetlana V. Kostyuk

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Traces of Paleolithic expansion in the Nivkh gene pool based on data on autosomal SNP and Y chromosome polymorphism by V. N. Kharkov, N. A. Kolesnikov, L. V. Valikhova, A. A. Zarubin, A. L. Sukhomyasova, I. Yu. Khitrinskaya, V. A. Stepanov

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Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility by Sophie Debaenst, Tamara Jarayseh, Hanna De Saffel, Jan Willem Bek, Matthieu Boone, Ivan Josipovic, Pierre Kibleur, Ronald Y Kwon, Paul J Coucke, Andy Willaert

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Amniotic Fluid Stem Cells: Future Perspectives by Margit Rosner, Katharina Schipany, Bharanidharan Shanmugasundaram, Gert Lubec, Markus Hengstschläger

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Differential Signature of the Centrosomal MARK4 Isoforms in Glioma by Ivana Magnani, Chiara Novielli, Laura Fontana, Silvia Tabano, Davide Rovina, Ramona F. Moroni, Dario Bauer, Stefania Mazzoleni, Elisa A. Colombo, Gabriella Tedeschi, Laura Monti, Giovanni Porta, Silvano Bosari, Carolina Frassoni, Rossella Galli, Lorenzo Bello, Lidia Larizza

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Conjugation of LasR Quorum-Sensing Inhibitors with Ciprofloxacin Decreases the Antibiotic Tolerance of P. aeruginosa Clinical Strains by Daria Bortolotti, Claudio Trapella, Alessandra Bragonzi, Paolo Marchetti, Vinicio Zanirato, Andrea Alogna, Valentina Gentili, Carlo Cervellati, Giuseppe Valacchi, Mariangela Sicolo, Giulia Turrin, Anna Fantinati, Dario Di Luca, Roberta Rizzo

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CLN6‐related continuum phenotype caused by aberrant splicing by Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

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Experience and role of Italian nurses working in genetic clinics: a descriptive phenomenological qualitative study by Lea Godino, Camilla Elena Magi, Carla Bruzzone, Stefano Bonora, Marco Seri, Liliana Varesco, Daniela Turchetti

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The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome by Elif YILMAZ GULEC, Alper GEZDIRICI

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The application of the facial analysis program Face2Gene in a single genetic counseling center: a retrospective study by Dinnar Yahya, Milena Stoyanova, Mari Hachmeriyan, Mariya Levkova

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Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

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Molecular basis and genetics of hypohidrotic ectodermal dysplasias by V. A. Kovalskaia, T. Cherevatova, A. V. Polyakov, O. P. Ryzhkova

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A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation by Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco

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