Results 121 to 130 of about 22,740 (195)
Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)
Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 756-763, June 2026.ABSTRACT Objectives
Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group, Maeva Anciaux, Laurent Andreoletti, Julie Arata‐Bardet, Carine Arlicot, Dominique Astruc, Jocelyne Attia, Marie‐Stéphanie Aubelle, Christelle Auvray, Bassel Bachour, Sonanda Bailleux, Nathalie Banaszkiewicz, Adeline Baron, Audrey Baudesson de Chanville, Manon Baudry, Agnès Beby‐Defaux, Alexandra Benachi, Melinda Benard, Yasmina Benmalek, Guillaume Benoist, Géraldine Benoit, Clotilde Bertrand, Florence Biquard, Delphine Body‐Bechou, Emilie Bouissou, Brahim Boumahni, Thomas Bourlet, Elise Bouthry, David Boutolleau, Marie Pierre Brechard, Caroline Bressollette, Olivier Brissaud, Marine Butin, Anne‐Sophie Cabaret‐Dufour, Romain Cahierc, Sandrine Caillot‐Vaudoyer, Odile Camard, Margaux Canaguier, Isabelle Cannavo, Clément Castella, Julie Cattin, Caroline Chessa, Marie‐Thérèse Cheve, Marianne Coicaud, Laurence Contin, Marianne Coste‐Burel, Sophie Couderc, Anne‐Marie Darras, Amélie Delabaere, Delphine Delayer, Mathilde Demeyere, Joelle Dendale, Anny Dewilde, Murielle Dobrzynski, Chloé Dole, Chloé Epiard, Véronique Equy, Laurence Fagour, Frederic Faibis, Benoit Fetiveau, Axel Fichez, Christelle Follet‐Bouhamed, Justine Formet, Vincent Foulongne, Loriane Franchinard, Emilie Frobert, Denis Gallot, Patricia Garcia, Isabelle Garrigue, Catherine Gaudy‐Graffin, Stéphanie Gouarin, Ann‐Claire Gourinat, Veronique Grezard, Michele Gueneret‐Bru, Jérôme Guinard, Frédérique Hay, Sophie Henault, Céline Homatter, Nadira Houhou, Cyril Huissoud, Véronique Jacomo, Gaelle Jambon, Eugénie Jolivet, Saodat Karimova, Blandine Keller, Sophie Ketterer‐Martinon, Fedia Khlif Masmoudi, François Kieffer, Bérengère Kireche, Anne‐Sophie L'Honneur, Jean‐Marc Labaune, Imad Labbassi, Marie‐Edith Lafon, Gisèle Lagathu, Stéphane Lastere, Hélène Laurichesse, Mouna Lazrek, Gwenaelle Le Bouar, Camille Le Pors, Claudine Le Vaillant, René Lebeaupin, Elodie Lecorps, Quentin Lepiller, Justine Lerat, Marine Letrecher, Nicolas Leveque, Emmanuelle Levine, Sophie Levrier, David Leyssene, Julien Lupo, Nadia Mahjoub, Anne‐Marie Maillotte, Sandrine Marioli, Julien Marlet, Stéphanie Marque Juillet, Manon Marquet, Charlotte Masias, Marco Millones Gonzales, Philippe Minodier, Nicolas Mottet, Eve Mousty, Sébastien Moutton, Anca Moza, Fatiha Najioullah, Anne‐Laure Nerre, Marie‐France Olieric, Isabelle Parent, Anne Paris, Christophe Pasquier, Estelle Perdriolle‐Galet, Franck Perrotin, Delphine Pesenti, Jean‐Charles Picaud, Olivier Picone, Sylvie Pillet, Léa Pilorge, Didier Pinquier, Veronique Poirier‐Cartron, Lucie Poisson, Perrine Prier, Catherine Queiros‐Da‐Silva, Thibaud Quibel, Harisoa Ramaholimihaso, Fabienne Raskin, Christel Regagnon, Mathilde Roffi, Thierry Rousseau, Anne‐Hélène Saliou, Adèle Schiby, Nathalie Schnepf, Christine Segard, Anaïs Soares, Morgane Solis, Robin Stephan, Natacha Teissier, Cyrielle Thonnon, Cynthia Trastour, Joelle Troussier, Anne Sylvie Valat, Christelle Vauloup‐Fellous, Véronique Venard, Valérie Vequeau‐Goua, Laura Verdurme, Mathilde Vermont, Marie Gabrielle Vigue, Marie Vincienne, Vladimir Vladimirov, Jean‐Baptiste Vuillemenot, Anne Sophie Weingertner, Eric Welter, Christine Zandotti +176 morewiley +1 more sourceBiallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. [PDF]
Eur J Hum Genet, 2020 Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL. +29 moreeuropepmc +1 more sourceExpanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies
Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing +7 morewiley +1 more sourceCraniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics
Clinical Genetics, Volume 109, Issue 6, Page 1070-1075, June 2026.Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT
Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto +6 morewiley +1 more sourceExpanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature
Clinical Genetics, Volume 109, Issue 6, Page 1076-1080, June 2026.The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals. Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven +6 morewiley +1 more sourceNon‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Clinical Genetics, Volume 109, Issue 6, Page 1029-1037, June 2026.Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott +4 morewiley +1 more sourceDelineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. [PDF]
Neurol Genet, 2018 Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N. +38 moreeuropepmc +1 more source
