Results 1 to 10 of about 619 (98)
First report of Kingella kingae diagnosed in pediatric bone and joint infections in Morocco [PDF]
BMC Infectious Diseases, 2021 Background The progress of diagnostic strategies and molecular methods improved the detection of Kingella kingae in bone and joint infections, and now, Kingella kingae is being increasingly recognized as the most frequent cause of bone and joint ...Kaoutar Moutaouakkil, Bouchra Oumokhtar, Hicham Abdellaoui, Samira El Fakir, Btissam Arhoune, Mustapha Mahmoud, Karima Atarraf, Moulay Abderrahmane Afifi +7 moredoaj +2 more sourcesAdult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis [PDF]
ERJ Open ResearchBackground
Mutations in telomere-related genes (TRGs) are the main cause of monogenic familial pulmonary fibrosis. Dyskerin, encoded by the X-localised gene DKC1, is involved in telomere maintenance.Ophélie Evrard, Quentin Philippot, Caroline Kannengiesser, Marie Pierre Debray, Alice Guyard, Antonin Fattori, Armelle Schuller, Hilario Nunes, David Montani, Vincent Bours, Vincent Cottin, Julie Traclet, Amira Benattia, Emilie Berthoux, Adrien Daniel, Xu Yan-Min, Elodie Lainey, Julien Saussereau, Malika Chelbi Viallon, Claire Oudin, Héléne Morel, Bruno Crestani, Raphaël Borie, Ibrahima Ba +23 moredoaj +2 more sourcesEvaluation of the contribution of trio-exome sequencing in selected prenatal indications [PDF]
Frontiers in GeneticsObjectiveThis study is an example of the contribution of exome sequencing (ES) in selected prenatal indications, while illustrating the complexity of interpreting prenatal genetic testing.Manon Chretien, Julien Osouf, Carine Abel, Alexandra Afenjar, Tania Attie-Bitach, Elise Brischoux-Boucher, Lydie Burglen, Nadège Calmels, Nicolas Chassaing, Thomas Courtin, Julian Delanne, Martine Doco-Fenzy, Martine Doco-Fenzy, Christèle Dubourg, Benjamin Durand, Salima El Chehadeh, Laurence Faivre, Aurore Garde, Emmanuelle Ginglinger, Virginie Haushalter, Damien Haye, Solveig Heide, Laurence Heidet, Laurence Heidet, Delphine Heron, Clémence Jacquin, Laetitia Lambert, Laetitia Lambert, Jean-Baptiste Lamouche, Vincent Laugel, Antony Le Bechec, Daphné Lehalle, Laurence Michel-Calemard, Edgar Montoya Ramirez, Jean Muller, Jean Muller, Jean Muller, Sylvie Odent, Olivier Patat, Juliette Piard, Juliette Piard, Céline Poirsier, Audrey Putoux, Chloé Quelin, Caroline Racine, Caroline Racine, Nicolas Sananes, Nicolas Sananes, Audrey Schalk, Sophie Scheidecker, Sophie Scheidecker, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Stéphanie Valence, Anne-Sophie Weingertner, Anne-Sophie Weingertner, Justine Wourms, Hélène Dollfus, Hélène Dollfus, Bénédicte Gerard, Caroline Schluth-Bolard, Caroline Schluth-Bolard, Elise Schaefer, Elise Schaefer +63 moredoaj +2 more sourcesIdentification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies [PDF]
Genome MedicineBackground Recent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to limited understanding of certain variants, regulatory sequences, or Amandine Santini, Angelo Tognon, Anne-Claire Richard, Guillaume Velasco, Gilles Phan, Pauline Marzin, Fabien Maury, Angele May, Caroline Michot, Adela Chirita-Emandi, Jorge M. Saraiva, Maria Juliana Ballesta-Martinez, Stanislas Lyonnet, Ivona Sansović, Tahsin Stefan Barakat, Perrine Brunelle, Jamal Ghoumid, Xavier Le Guillou, Pauline Le Tanno, Marjolaine Willems, Martin Zenker, Ina Schanze, Stéphanie Moortgat, Bertrand Isidor, Alix Paulet, Alison Yeung, Jonathan Levy, Federica Ruscitti, Leticia Pias-Peleteiro, Marlène Rio, Thomas Courtin, Hamza Hadj Abdallah, Stéphanie Ducreux, Jean-Sérène Laloy, Paul Rollier, Anne-Marie Guerrot, Nicolas Chatron, Florence Demurger, Alice Goldenberg, Julian Delanne, Laurence Faivre, François Lecoquierre, Gaël Nicolas, Aurélie Coussement, Corinne Collet, Yvan Herenger, Matthieu Defrance, Valérie Cormier-Daire, Camille Charbonnier, Maud de Dieuleveult +49 moredoaj +2 more sourcesHepatopulmonary syndrome in patients with porto-sinusoidal vascular disorder: Characteristics and outcome [PDF]
JHEP ReportsBackground & Aims: Porto-sinusoidal vascular disorder (PSVD) is a rare cause of portal hypertension. Data on hepatopulmonary syndrome (HPS) in PSVD are limited.Sabrina Sidali, Ylang Spaes, Kinan El Husseini, Odile Goria, Vincent Mallet, Armelle Poujol-Robert, Anne Gervais, Adrien Lannes, Dominique Thabut, Jean-Baptiste Nousbaum, Isabelle Hourmand-Ollivier, Charlotte Costentin, Alexandra Heurgué, Pauline Houssel-Debry, Sophie Hillaire, Nathalie Ganne-Carrié, Nicolas Drilhon, Shanta Ram Valainathan, Lucile Moga, Marion Tanguy, Estelle Marcault, Aurélie Plessier, François Durand, Sarah Raevens, Valérie Paradis, Agnès Cachier, Laure Elkrief, Pierre-Emmanuel Rautou +27 moredoaj +2 more sourcesExpanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants. [PDF]
Mov DisordAbstract Background
DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods
We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM. +39 moreeuropepmc +2 more sourcesCase Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance
Frontiers in Endocrinology, 2022 PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects.Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt, Isabelle Maystadt +10 moredoaj +1 more sourceVariants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
HGG Advances, 2022 Summary: Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID.Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj +38 moredoaj +1 more sourceCDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. [PDF]
Clin GenetThis report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...Contrò G, Baroni MC, Caraffi SG, Napoli M, Artuso R, Giliberti A, Bargiacchi S, Mancano G, Traficante G, Mucciolo M, Radio FC, Cordeddu V, Mancini C, Bottillo I, Pirro FA, Bonati MT, Becker CC, Carli D, Mussa A, Gonzalez MIA, Ruiz-Arana IL, Kumps C, Maystadt I, Moortgat S, Peker A, Piccione M, Grammatico P, Rostomashvili N, Lévy J, Scala M, Capra V, Torella A, van Eyk C, Isidor B, Cogne B, Srivastava S, Quinlan A, Vaisfeld A, Licchetta L, Frattini D, Graziano C, Severi G, Bacchi I, Soliani L, Sherr EH, Argilli E, Goel H, De Luca C, Leonardi S, Brancati F, Faletra F, Mio C, Braibanti S, Gargano G, Fusco C, Novelli A, Tartaglia M, Garavelli L. +57 moreeuropepmc +2 more sources
