Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.

Autor: Pierron, Lucie, du Montcel, Sophie Tezenas, Heinzmann, Anna, Coarelli, Giulia, Héron, Delphine, Heide, Solveig, Herson, Ariane, Hennessy, Juliette, Petit, Elodie, Gargiulo, Marcela, Durr, Alexandra

Publikováno v: Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p346-351, 12p

Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.

Autor: Crow, Yanick J., Gonzalez-Granado, Luis I, Coarelli, Giulia, Pierron, Lucie, Maystadt, Isabelle, Wagner, Matias, Zamani, Mina, Sadeghian, Saeid, David, Clémence, Rice, Gillian I

Publikováno v: Journal of Clinical Immunology; May2023, Vol. 43 Issue 4, p706-708, 3p

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Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Autor: Le C; Department of Neurology, 675 Nelson Rising Lane, University of California, San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA., Argilli E; Department of Neurology, 675 Nelson Rising Lane, University of California, San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA., George E; Department of Radiology and Biomedical Imaging, University of California, San Francisco, California, 94122, USA., Kalaycı T; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey., Uyguner ZO; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey., Karaman B; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey.; Istanbul University, Child Health Institute, Basic Pediatric Science, Istanbul, Turkey., Demirören T; Yeditepe University, Faculty of Medicine Department, Department of Obstetrics and Gynecology, Istanbul, Turkey., DiTroia S; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Heron D; Assistance Publique-Hôpitaux de Paris Sorbonne Université (Pitié Salpêtrière et Trousseau), Paris, France., Sabatier I; Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France., Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, 02115, USA., Girisha KM; Suma Genomics Private Limited, Manipal, India.; Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Sullivan B; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Fleming E; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Alvi JR; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Sultan T; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom., Sacoto MJG; GeneDx, Gaithersburg, Maryland, 20877, USA., Goodman M; Ochsner Health System, New Orleans, Louisiana, 70121, USA., Pierron L; Sorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho pitaux de Paris, Department of Medical Genetics, Paris, France., De Sainte-Agathe JM; Sorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho pitaux de Paris, Department of Medical Genetics, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - Institut du Cerveau, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique-Ho pitaux de Paris, Paris, France., Sherr EH; Department of Neurology, 675 Nelson Rising Lane, University of California, San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Dec 17. Date of Electronic Publication: 2024 Dec 17.