المؤلفون: Cavalli A; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy. anna.cavalli@ausl.re.it., Caraffi SG; Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Rizzi S; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Trimarchi G; Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Napoli M; Neuroradiology Unit, Arcispedale santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Frattini D; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Spagnoli C; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Garavelli L; Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy., Fusco C; Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, 42123, Reggio Emilia, Italy.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Mar 05; Vol. 17 (1), pp. 68. Date of Electronic Publication: 2024 Mar 05.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/diagnostic imaging , Periventricular Nodular Heterotopia*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Male ; Child ; Humans ; Amino Acids ; Phosphorylation ; Brain

المؤلفون: Zanello M; Service de Neurochirurgie, GHU Paris Psychiatrie et Neurosciences, Hôpital Sainte-Anne, Paris, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, IMA-BRAIN, Université Paris Cité, Paris, France., Garnier E; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France., Carron R; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Stereotactic and Functional Neurosurgery, Marseille, France., Jegou A; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France., Lagarde S; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France., Makhalova J; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France.; APHM La Timone, CEMEREM, Marseille, France., Medina S; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France., Bénar CG; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France., Bartolomei F; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France., Pizzo F; INSERM, INS, Institut de Neurosciences des Systèmes, Aix-Marseille University, Marseille, France.; APHM, Timone Hospital, Epileptology and Cerebral Rhythmology, Marseille, France.

المصدر: Epilepsia [Epilepsia] 2024 Apr; Vol. 65 (4), pp. e47-e54. Date of Electronic Publication: 2024 Feb 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/complications , Periventricular Nodular Heterotopia*/diagnostic imaging , Epilepsy*/diagnostic imaging , Drug Resistant Epilepsy*/diagnostic imaging , Drug Resistant Epilepsy*/surgery, Humans ; Seizures ; Electroencephalography/methods ; Cerebral Cortex

المؤلفون: Desnous B; Pediatric Neurology Department, Timone Enfant, APHM, Marseille, France., Carles G; Pediatric Cardiology Department, Timone Enfant, APHM, Marseille, France., Riccardi F; Genetic Department, Sainte Musse Hospital, Toulon, France., Stremler N; Pediatric Pneumology Department, Timone Enfant, APHM, Marseille, France., Baravalle M; Pediatric Pneumology Department, Timone Enfant, APHM, Marseille, France., El-Louali F; Pediatric Cardiology Department, Timone Enfant, APHM, Marseille, France., Testud B; Neuroradiology Department, Timone Enfant, APHM, Marseille, France.; Aix-Marseille University, CNRS, CRMBM, UMR 7339, Marseille, France.; APHM La Timone, CEMEREM, Marseille, France., Milh M; Pediatric Neurology Department, Timone Enfant, APHM, Marseille, France.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 364-368. Date of Electronic Publication: 2023 Dec 26.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/diagnostic imaging , Periventricular Nodular Heterotopia*/genetics , Epilepsy*/genetics , Lung Diseases, Interstitial*, Infant ; Humans ; Male ; Female ; Pregnancy ; Young Adult ; Adult ; Filamins/genetics ; Mutation ; Magnetic Resonance Imaging

المؤلفون: Filipescu C; Neurophysiology and Epileptology Department, GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital, Paris, France., Landré E; Surgical Epileptology Unit, Neurosurgery Department, GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital, Paris, France., Gavaret M; Neurophysiology and Epileptology Department, GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital, Paris, France.; Paris-Cité University, Paris, France., Zanello M; Surgical Epileptology Unit, Neurosurgery Department, GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital, Paris, France.; Paris-Cité University, Paris, France., Pallud J; Surgical Epileptology Unit, Neurosurgery Department, GHU Paris Psychiatry and Neurosciences, Sainte-Anne Hospital, Paris, France.; Paris-Cité University, Paris, France.

المصدر: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2024 Feb; Vol. 26 (1), pp. 158-160. Date of Electronic Publication: 2023 Nov 20.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 100891853 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6945 (Electronic) Linking ISSN: 12949361 NLM ISO Abbreviation: Epileptic Disord Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/surgery , Epilepsy*/surgery, Humans ; Stereotaxic Techniques ; Electrocoagulation ; Magnetic Resonance Imaging ; Electroencephalography

المؤلفون: Poulen G; Epilepsy Monitoring and Surgery Unit, Département de neurochirurgie, Unité « Pathologie Cérébrales Résistantes », Centre Hospitalo-Universitaire Gui de Chauliac, Montpellier, France.; Research Unit (URCMA: Unité de Recherche sur les Comportements et Mouvements Anormaux), Centre Hospitalo-Universitaire Gui de Chauliac, Montpellier, France.; MMDN, University of Montpellier, EPHE, INSERM, Montpellier, France., Mercedes-Alvarez B; Epilepsy Monitoring and Surgery Unit, Département de neurochirurgie, Unité « Pathologie Cérébrales Résistantes », Centre Hospitalo-Universitaire Gui de Chauliac, Montpellier, France., Rigau V; Département d'Anatomo-Pathologie, Centre Hospitalo-Universitaire Gui de Chauliac, Montpellier, France., Coubes P; Epilepsy Monitoring and Surgery Unit, Département de neurochirurgie, Unité « Pathologie Cérébrales Résistantes », Centre Hospitalo-Universitaire Gui de Chauliac, Montpellier, France.; Research Unit (URCMA: Unité de Recherche sur les Comportements et Mouvements Anormaux), Centre Hospitalo-Universitaire Gui de Chauliac, Montpellier, France.

المصدر: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2024 Apr; Vol. 26 (2), pp. 240-243. Date of Electronic Publication: 2023 Nov 10.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 100891853 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6945 (Electronic) Linking ISSN: 12949361 NLM ISO Abbreviation: Epileptic Disord Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/genetics , Malformations of Cortical Development*/genetics, Humans ; Filamins/genetics ; Mutation ; Electroencephalography ; Magnetic Resonance Imaging

المؤلفون: Khera S; Pediatrics, Army Hospital Research and Referral, New Delhi, India kherakherakhera@gmail.com., Jauhari S; Pediatrics, Base Hospital Delhi Cantt, Delhi, India., Pattanayak S; Radiodiagnosis, Army Hospital Research and Referral, New Delhi, India., Choubey M; Pediatrics, Command Hospital Kolkata, Kolkata, West Bengal, India.

المصدر: BMJ case reports [BMJ Case Rep] 2024 Jan 04; Vol. 17 (1). Date of Electronic Publication: 2024 Jan 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/complications , Periventricular Nodular Heterotopia*/diagnostic imaging , Periventricular Nodular Heterotopia*/genetics , Pulmonary Emphysema*/complications , Pulmonary Emphysema*/diagnostic imaging , Pulmonary Emphysema*/genetics , Heart Defects, Congenital*/complications , Heart Defects, Congenital*/diagnostic imaging , Heart Defects, Congenital*/genetics, Infant ; Humans ; Filamins/genetics ; Mutation ; Magnetic Resonance Imaging

المؤلفون: Paliotti K; Faculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada., Dassi C; Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Berrahmoune S; Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Bejaran ML; Pediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain., Davila CEV; Pediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain., Martinez AB; Pediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain., Estupiñà MCF; Pediatric Neurology Department, Sant Joan de Déu Barcelona Children's Hospital, Sant Joan de Déu Research Institute, Member of the ERN EpiCARE, Barcelona, Spain., Mancardi MM; Epilepsy Center, Reference Center for Rare and Complex Epilepsies-EpiCARE, IRCCS Istituto Gaslini, Genoa, Italy., Riva A; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Gaslini, University of Genoa, Genoa, Italy., Giacomini T; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Romaniello R; Child Neuropsychiatry and Neurorehabilitation Department, Scientific Institute Eugenio Medea, La Nostra Famiglia, Lecco, Italy., Dubeau F; Department of Neurology and Neurosurgery, McGill University Health Centre, Montreal, QC, Canada., Srour M; Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, MUHC Glen Site, 1001 Décarie Blvd, Montreal, QC, H4A 3J1, Canada.; Department of Neurology and Neurosurgery, McGill University Health Centre, Montreal, QC, Canada., Myers KA; Research Institute of the McGill University Health Centre, Montreal, QC, Canada. kenneth.myers@mcgill.ca.; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, MUHC Glen Site, 1001 Décarie Blvd, Montreal, QC, H4A 3J1, Canada. kenneth.myers@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University Health Centre, Montreal, QC, Canada. kenneth.myers@mcgill.ca.

المصدر: Journal of neurology [J Neurol] 2023 Aug; Vol. 270 (8), pp. 3934-3945. Date of Electronic Publication: 2023 Apr 29.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/complications , Periventricular Nodular Heterotopia*/diagnostic imaging , Periventricular Nodular Heterotopia*/genetics , Epilepsy*/complications , Epilepsy*/genetics , Drug Resistant Epilepsy*/genetics, Humans ; Retrospective Studies ; Seizures ; Magnetic Resonance Imaging ; Electroencephalography

المؤلفون: Xue H; From the College of Neurosurgery and Neurorehabilitation (H.X.), and Department of Neurology (C.Z., L.X., W.Y.), Tianjin Huanhu Hospital, China., Zhang C; From the College of Neurosurgery and Neurorehabilitation (H.X.), and Department of Neurology (C.Z., L.X., W.Y.), Tianjin Huanhu Hospital, China., Xiang L; From the College of Neurosurgery and Neurorehabilitation (H.X.), and Department of Neurology (C.Z., L.X., W.Y.), Tianjin Huanhu Hospital, China., Yue W; From the College of Neurosurgery and Neurorehabilitation (H.X.), and Department of Neurology (C.Z., L.X., W.Y.), Tianjin Huanhu Hospital, China. hhyuewei2008@163.com.

المصدر: Neurology [Neurology] 2023 Sep 26; Vol. 101 (13), pp. e1387-e1388. Date of Electronic Publication: 2023 Jul 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia*/diagnostic imaging , Periventricular Nodular Heterotopia*/genetics, Humans ; Microtubule-Associated Proteins ; Brain/diagnostic imaging ; Brain/pathology ; Magnetic Resonance Imaging

المؤلفون: de Sainte Agathe JM; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France jean-madeleine.desainteagathe@aphp.fr., Pode-Shakked B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Michaud V; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France., Arveiler B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France., Fergelot P; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France., Delmas J; Pediatric and Prenatal Imaging Department, Centre Hospitalier Universitaire de Bordeaux Groupe hospitalier Pellegrin, Bordeaux, France., Keren B; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Poirsier C; Département de génétique médicale, CHU Reims, Reims, France., Alkuraya FS; Department of Translational Genomic, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Tabarki B; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military and Medical City, Riyadh, Saudi Arabia., Bend E; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Davis K; Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada., Bebin M; UAB Epilepsy Center, The University of Alabama at Birmingham Hospital, Birmingham, Alabama, USA., Thompson ML; Greg Cooper's Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Bryant EM; Gillette Children's Specialty Healthcare, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Germany., Hannibal I; Department of Pediatrics, University Hospital Munich, Munchen, Germany., Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Krenn M; Department of Neurology, Medizinische Universitat Wien, Wien, Austria., Wigby KM; Rady Children's Hospital-San Diego, University of California, San Diego, California, USA., Friedman JR; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital San Diego, San Diego, California, USA., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy., Miao T; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; École d'ingénieurs biotechnologies Paris - SupBiotech, Sup'Biotech, Paris, France., LeGuern E; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; ICM, INSERM, Paris, France., Argilli E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA., Sherr E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA., Caluseriu O; Department of Medical Genetics, University of Alberta Hospital, Edmonton, Alberta, Canada., Tidwell T; ARUP Laboratories, Salt Lake City, Utah, USA., Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, Utah, USA., Hagedorn C; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munchen, Germany., Vill K; Fachbereich Neuromuskuläre Erkrankungen und klinische Neurophysiologie, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany., Morneau-Jacob FD; Division of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Chung W; Departments of Pediatrics and Medicine, Columbia University, New York City, New York, USA., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Owens JW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Chaudhari BP; Divisions of Neonatology, Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Stone BS; Divisions of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Burns K; Sanford Children's Specialty Clinic, Sioux Falls, South Dakota, USA., Li R; Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA., de Lange IM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Biehler M; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals, Strasbourg, France., Ginglinger E; Génétique médicale, GHRMSA Hôpital Emile Muller, Mulhouse, France., Gérard B; Laboratories of Genetic Diagnosis, Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals, Strasbourg, France., Stottmann RW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio, USA., Trimouille A; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Maladies Rares : Génétique et Métabolisme (MRGM), U1211, INSERM, Bordeaux, France.; Service de Pathologie, University Hospital Centre Bordeaux Pellegrin Hospital Group, Bordeaux, France.

المصدر: Journal of medical genetics [J Med Genet] 2023 Oct; Vol. 60 (10), pp. 999-1005. Date of Electronic Publication: 2023 Apr 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Microcephaly* , Periventricular Nodular Heterotopia*, Humans ; Brain/diagnostic imaging ; Genotype ; Phenotype ; Seizures/genetics

المؤلفون: Ramhøj L; National Food Institute, Technical University of Denmark, Kgs. Lyngby, DK-2800, Denmark. Electronic address: louram@food.dtu.dk., Guyot R; Institut de Génomique Fonctionnelle de Lyon, Université Claude Bernard Lyon I, CNRS UMR 5242, INRAE USC 1370 Ecole Normale Supérieure de Lyon, 46 allée d'Italie, 69364, Lyon, France., Svingen T; National Food Institute, Technical University of Denmark, Kgs. Lyngby, DK-2800, Denmark., Kortenkamp A; Centre for Pollution Research and Policy, College of Health, Medicine and Life Sciences, Brunel University London, Kingston Lane, Uxbridge, UB8 3PH, UK., Flamant F; Institut de Génomique Fonctionnelle de Lyon, Université Claude Bernard Lyon I, CNRS UMR 5242, INRAE USC 1370 Ecole Normale Supérieure de Lyon, 46 allée d'Italie, 69364, Lyon, France., Axelstad M; National Food Institute, Technical University of Denmark, Kgs. Lyngby, DK-2800, Denmark.

المصدر: Regulatory toxicology and pharmacology : RTP [Regul Toxicol Pharmacol] 2023 Aug; Vol. 142, pp. 105445. Date of Electronic Publication: 2023 Jul 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8214983 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0295 (Electronic) Linking ISSN: 02732300 NLM ISO Abbreviation: Regul Toxicol Pharmacol Subsets: MEDLINE

مواضيع طبية MeSH: Periventricular Nodular Heterotopia* , Prenatal Exposure Delayed Effects*/chemically induced , Hypothyroidism*/chemically induced , Hypothyroidism*/metabolism, Pregnancy ; Female ; Humans ; Animals ; Rats ; Mice ; Maternal Exposure ; Thyroid Hormones/metabolism ; Propylthiouracil/toxicity