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Tytuł :
Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Autorzy :
Blumkin L; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
Leibovitz Z; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel.
Krajden-Haratz K; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; OB-GYN Ultrasound Unit, Lis Maternity Hospital, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel.
Arad A; Department of Pathology, Bnai Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel.
Yosovich K; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.
Gindes L; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.
Zerem A; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Ben-Sira L; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Radiology Unit, Tel Aviv Medical Center, Tel-Aviv, Israel.
Lev D; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
Nissenkorn A; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Kidron D; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Deaprtment of Pathology, Meir Medical Center, Kfar Saba, Israel.
Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Department of Neurology, University of Washington, Seattle, WA, USA.
Malinger G; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; OB-GYN Ultrasound Unit, Lis Maternity Hospital, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel.
Bahi-Buisson N; Department of Pediatric Neurology, Necker Enfants Malades University Hospital, Paris Descartes University, Paris, France; Genetic and Development of Cerebral Cortex, INSERM UMR-1163, Imagine Institute, Paris Descartes University, Paris, France.
Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and Unibversity of Melbourne, Department of Pediatrics, Melbourne, Australia.
Lerman-Sagie T; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2020 May; Vol. 26, pp. 46-60. Date of Electronic Publication: 2020 Mar 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Fetus/*abnormalities
Nervous System Malformations/*genetics
Nervous System Malformations/*pathology
Tubulin/*genetics
Adult ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging/methods ; Male ; Mutation ; Pregnancy ; Syndrome
Czasopismo naukowe
Tytuł :
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Autorzy :
Brandsma R; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Amrom D; Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium; Neurology Unit, Kannerklinik Centre Hospitalier de Luxembourg, Luxembourg, Grand Duchy of Luxembourg.
Barisic N; Department of Pediatrics, Clinical Medical Centre Zagreb, University of Zagreb Medical School, Croatia.
Baxter P; Department of Paediatric Neurology, Sheffield Children's Hospital, UK.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Blumkin L; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Brankovic-Sreckovic V; Clinic for Child Neurology and Psychiatry, Medical Faculty, University of Belgrade, Belgrade, Serbia.
Brouwer OF; Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Bürk K; Paracelsus-Elena-Klinik Kassel, University of Marburg, Germany.
Catsman-Berrevoets CE; Department of Pediatric Neurology, Erasmus University Hospital/Sophia Children's Hospital, Rotterdam, the Netherlands.
Craiu D; Carol Davila University of Medicine Bucharest, Department of Clinical Neurosciences, Pediatric Neurology II Discipline, Alexandru Obregia Hospital, Bucharest, Romania.
de Coo IFM; Department of Genetics and Cell Biology, University of Maastricht, Maastricht, the Netherlands.
Gburek J; Centre for Paediatrics and Adolescent Medicine, Hannover Medical School, Hannover, Germany.
Kennedy C; Clinical Neurosciences, Faculty of Medicine, University of Southampton, UK.
de Koning TJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Kremer HPH; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Kumar R; Department of Pediatric Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Macaya A; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, 08002, Barcelona, Spain.
Micalizzi A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy.
Mirabelli-Badenier M; DINOGMI Department-University of Genoa/Unit of Child Neuropsychiatry, G. Gaslini Institute, Genoa, Italy.
Nemeth A; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
Nuovo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
Poll-The B; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre (AMC), University of Amsterdam, the Netherlands.
Lerman-Sagie T; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Steinlin M; Division of Neuropediatrics, Development and Rehabilitation, University Children's Hospital Bern, Inselspital, Bern University Hospital, University of Bern, Switzerland.
Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Tijssen MAJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Vasco G; Division of Neurorehabilitation, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Willemsen MAAP; Department of Pediatric Neurology, Radboud University Medical Center/Amalia Children's Hospital, Nijmegen, the Netherlands.
Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Valente EM; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Boltshauser E; Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.
Sival DA; Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2019 Sep; Vol. 23 (5), pp. 692-706. Date of Electronic Publication: 2019 Aug 10.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Algorithms*
Decision Support Systems, Clinical*
Spinocerebellar Degenerations/*diagnosis
Adolescent ; Child ; Diagnosis, Differential ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Autorzy :
Weisz-Hubshman M; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: .
Meirson H; Pediatric Neurology Unit, Kaplan Medical Center Rehovot, Israel.
Michaelson-Cohen R; Shaare Zedek Medical Center, Hebrew University School of Medicine, Jerusalem, Israel.
Beeri R; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel.
Tzur S; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel; Genomic Research Department, Emedgene Technologies, Tel-Aviv, Israel.
Bormans C; Gene by Gene, Genomic Research Center, Houston, TX, USA.
Modai S; Variantyx, Inc, Framingham, MA, USA.
Shomron N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Variantyx, Inc, Framingham, MA, USA.
Shilon Y; Pediatric Neurology Unit, Kaplan Medical Center Rehovot, Israel.
Banne E; Institute of Medical Genetics, Kaplan Medical Center, Rehovot, Israel.
Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Konen O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Radiology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Marek-Yagel D; Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Veber A; Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Shalva N; Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Lev D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
Lerman Sagie T; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Ben-Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Basel-Salmon L; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel.
Behar DM; Gene by Gene, Genomic Research Center, Houston, TX, USA.
Heimer G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2019 May; Vol. 23 (3), pp. 418-426. Date of Electronic Publication: 2019 Feb 19.
Typ publikacji :
Journal Article
MeSH Terms :
Face/*abnormalities
Intellectual Disability/*genetics
Spasms, Infantile/*genetics
Tumor Suppressor Proteins/*genetics
WW Domain-Containing Oxidoreductase/*genetics
Female ; Genetic Association Studies ; Humans ; Jews/genetics ; Male ; Mutation ; Pedigree ; Yemen
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.
Autorzy :
Hady-Cohen R; Metabolic Neurogenetic Service, Holon, Israel; Pediatric Neurology Unit, Holon, Israel.
Ben-Pazi H; Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
Adir V; The Institute of Genetics, Lady Davis Carmel Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel.
Yosovich K; Molecular Genetics Laboratory, Holon, Israel.
Blumkin L; Metabolic Neurogenetic Service, Holon, Israel; Pediatric Neurology Unit, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lerman-Sagie T; Metabolic Neurogenetic Service, Holon, Israel; Pediatric Neurology Unit, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lev D; Metabolic Neurogenetic Service, Holon, Israel; Pediatric Neurology Unit, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Nov; Vol. 22 (6), pp. 1133-1138. Date of Electronic Publication: 2018 Jul 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Brain Diseases/*genetics
Brain Diseases/*pathology
Vesicular Transport Proteins/*genetics
Adolescent ; Alleles ; Atrophy ; Cerebellum/pathology ; Child ; Drug Resistant Epilepsy/genetics ; Edema/genetics ; Edema/pathology ; Female ; Humans ; Male ; Mutation ; Optic Atrophy/genetics ; Phenotype ; Siblings ; Syndrome
Czasopismo naukowe
Tytuł :
The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.
Autorzy :
Leibovitz Z; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
Guibaud L; Multidisciplinary National Center for Superficial Vascular Anomalies, Hôpital Femme Mère Enfant, Lyon Bron, France; Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon 1, Lyon Bron, France.
Garel C; Service d'imagerie, HUEP - APHP, Hôpital Armand-Trousseau, Faculté de Médecine Pierre et Marie Curie, Sorbonne Universités, UPMC, Paris VI, Paris, France.
Massoud M; Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon 1, Lyon Bron, France.
Karl K; Center for Prenatal Diagnosis, Munich, Germany.
Malinger G; Obstetric-Gynecologic Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.
Haratz KK; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Obstetric-Gynecologic Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.
Gindes L; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Tamarkin M; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Ben-Sira L; Pediatric Radiology Unit, Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.
Lev D; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Israel.
Shalev J; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Israel.
Brasseur-Daudruy M; Department of Radiology, Rouen University Hospital, Rouen, France.
Contreras Gutierrez de Piñeres CA; Colpodiagnóstico IPS, Dinámica IPS, Medellin, Colombia.
Lerman-Sagie T; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv-Aviv, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Nov; Vol. 22 (6), pp. 900-909. Date of Electronic Publication: 2018 Sep 01.
Typ publikacji :
Journal Article
MeSH Terms :
Aortic Coarctation/*diagnostic imaging
Cerebellum/*pathology
Eye Abnormalities/*diagnostic imaging
Fetus/*diagnostic imaging
Neurocutaneous Syndromes/*diagnostic imaging
Neuroimaging/*methods
Prenatal Diagnosis/*methods
Aortic Coarctation/pathology ; Cerebellum/diagnostic imaging ; Eye Abnormalities/pathology ; Female ; Fetus/pathology ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging/methods ; Male ; Neurocutaneous Syndromes/pathology ; Pregnancy ; Syndrome ; Ultrasonography, Prenatal/methods
SCR Disease Name :
PHACE association
Czasopismo naukowe
Tytuł :
Fetal pericallosal lipomas - Clues to diagnosis in the second trimester.
Autorzy :
Shinar S; Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: .
Lerman-Sagie T; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Telleria ME; Institut Universitari Dexeus, Barcelon, Spain.
Viñals F; Clínica Sanatorio Alemán, Concepción, Chile.
García R; Hospital Universitario de Canarias, Las Palmas, Spain.
Quiroga H; Centro Superior de Enseñanza en Ultrasonido Perinatal, Barquisimeto, Venezuela.
Bermejo C; Clínica Delta, Madrid, Spain.
Ben-Sira L; Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Leibovitz Z; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.
Har-Toov J; Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Malinger G; Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Nov; Vol. 22 (6), pp. 929-934. Date of Electronic Publication: 2018 Aug 02.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Prenatal Diagnosis*
Corpus Callosum/*diagnostic imaging
Corpus Callosum/*pathology
Lipoma/*congenital
Lipoma/*diagnostic imaging
Early Diagnosis ; Female ; Fetus/diagnostic imaging ; Fetus/pathology ; Humans ; Lipoma/pathology ; Magnetic Resonance Imaging/methods ; Male ; Pregnancy ; Pregnancy Trimester, Second ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
Diagnostic approach to fetal microcephaly.
Autorzy :
Leibovitz Z; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
Lerman-Sagie T; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv-Aviv, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Nov; Vol. 22 (6), pp. 935-943. Date of Electronic Publication: 2018 Jun 30.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Biometry/*methods
Fetus/*diagnostic imaging
Head/*diagnostic imaging
Microcephaly/*diagnostic imaging
Prenatal Diagnosis/*methods
Female ; Gestational Age ; Head/embryology ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Reference Values ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of brainstem anomalies.
Autorzy :
Haratz KK; Fetal Neurology Clinic, Ultrasound in Ob-Gyn Unit, Wolfson Medical Center, Holon, Israel; Lis Maternity Hospital, Tel Aviv Medical Center, Tel Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: .
Lerman-Sagie T; Fetal Neurology Clinic, Ultrasound in Ob-Gyn Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Nov; Vol. 22 (6), pp. 1016-1026. Date of Electronic Publication: 2018 Jul 06.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Brain Stem/*abnormalities
Nervous System Malformations/*diagnosis
Prenatal Diagnosis/*methods
Brain Stem/embryology ; Female ; Fetus/abnormalities ; Humans ; Magnetic Resonance Imaging ; Male ; Pregnancy
Czasopismo naukowe
Tytuł :
Fetal Neurology.
Autorzy :
Malinger G; Fetal Neurology Clinic, Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
Lerman-Sagie T; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Nov; Vol. 22 (6), pp. 895-897.
Typ publikacji :
Editorial; Introductory Journal Article
Czasopismo naukowe
Tytuł :
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Autorzy :
Leibovitz Z; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappoport Faculty of Medicine, The Technion, Haifa, Israel; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
Mandel H; Institute of Human Genetics and Metabolic Disorders, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Falik-Zaccai TC; Institute of Human Genetics and Metabolic Disorders, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Ben Harouch S; Institute of Human Genetics and Metabolic Disorders, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Savitzki D; Pediatric Neurology and Development Unit, Western Galilee Medical Center, Naharia and Faculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Krajden-Haratz K; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Gindes L; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Tamarkin M; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lev D; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Lerman-Sagie T; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 May; Vol. 22 (3), pp. 525-531. Date of Electronic Publication: 2017 Dec 26.
Typ publikacji :
Journal Article
MeSH Terms :
Brain/*diagnostic imaging
Dystroglycans/*genetics
Walker-Warburg Syndrome/*diagnostic imaging
Walker-Warburg Syndrome/*genetics
Brain/pathology ; Consanguinity ; Dystroglycans/deficiency ; Female ; Frameshift Mutation ; Homozygote ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Phenotype ; Pregnancy ; Tomography, X-Ray Computed ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Autorzy :
Nishri D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Child Development Center, Central District, Maccabi Health Services, Tel Aviv, Israel.
Goldberg-Stern H; Epilepsy Center, Schneider's Children Medical Center, Petah Tiqwa, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Noyman I; Pediatric Neurology Unit, Soroka Medical Center, Beer-Sheba, Israel.
Blumkin L; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Kivity S; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Epilepsy Center, Schneider's Children Medical Center, Petah Tiqwa, Israel.
Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Nakashima M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Leshinsky-Silver E; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lerman-Sagie T; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lev D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2016 May; Vol. 20 (3), pp. 412-7. Date of Electronic Publication: 2016 Mar 02.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Arginine-tRNA Ligase/*genetics
Epilepsy/*genetics
Age of Onset ; Child, Preschool ; Epilepsy/pathology ; Epilepsy/physiopathology ; Fatal Outcome ; Female ; Humans ; Male ; Siblings
Czasopismo naukowe
Tytuł :
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
Autorzy :
Carmi N; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
Lev D; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Leshinsky-Silver E; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Anikster Y; Molecular Genetics Laboratory, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Blumkin L; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Kivity S; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
Lerman-Sagie T; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Zerem A; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2015 Nov; Vol. 19 (6), pp. 733-6. Date of Electronic Publication: 2015 Jul 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chorea/*physiopathology
Metabolism, Inborn Errors/*physiopathology
Optic Atrophy/*physiopathology
Psychomotor Agitation/*etiology
Spastic Paraplegia, Hereditary/*physiopathology
Status Epilepticus/*etiology
Basal Ganglia Diseases/etiology ; Child, Preschool ; Chorea/diagnosis ; Chorea/genetics ; Consanguinity ; Electroencephalography ; Female ; Glutarates/urine ; Humans ; Jews ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/genetics ; Muscle Spasticity/etiology ; Optic Atrophy/diagnosis ; Optic Atrophy/genetics ; Proteins/genetics ; Seizures/etiology ; Sleep ; Spastic Paraplegia, Hereditary/diagnosis ; Spastic Paraplegia, Hereditary/genetics
SCR Disease Name :
3-Methylglutaconic Aciduria; Costeff optic atrophy syndrome
Czasopismo naukowe
Tytuł :
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
Autorzy :
Blumkin L; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Bradshaw T; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Michelson M; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Kopler T; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.
Dahari D; Toldot Genetics Ltd., Tel Aviv, Israel.
Lerman-Sagie T; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Lev D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Chapple JP; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Leshinsky-Silver E; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Toldot Genetics Ltd., Tel Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2015 Jul; Vol. 19 (4), pp. 472-6. Date of Electronic Publication: 2015 Mar 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Heat-Shock Proteins/*genetics
Muscle Spasticity/*complications
Muscle Spasticity/*genetics
Retinal Degeneration/*genetics
Spinocerebellar Ataxias/*congenital
Child ; Heterozygote ; Humans ; Male ; Mitochondria/pathology ; Mutation ; Phenotype ; Spinocerebellar Ataxias/complications ; Spinocerebellar Ataxias/genetics
SCR Disease Name :
Spastic ataxia Charlevoix-Saguenay type
Czasopismo naukowe
Tytuł :
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.
Autorzy :
Blumkin L; Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel. Electronic address: .
Leshinsky-Silver E; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Molecular Laboratory, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Michelson M; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Zerem A; Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Kivity S; Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Lev D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Lerman-Sagie T; Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel.
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2015 May; Vol. 19 (3), pp. 292-7. Date of Electronic Publication: 2015 Jan 08.
Typ publikacji :
Journal Article
MeSH Terms :
Calcium Channels/*genetics
Nervous System Diseases/*complications
Nervous System Diseases/*genetics
Ocular Motility Disorders/*etiology
Ocular Motility Disorders/*genetics
Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mutation ; Vertigo/etiology ; Vertigo/genetics
Czasopismo naukowe
Tytuł :
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
Autorzy :
Zerem A; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
Lev D; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Blumkin L; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Goldberg-Stern H; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Department of Pediatrics and Adolescent Neurology, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
Michaeli-Yossef Y; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
Halevy A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Department of Pediatrics and Adolescent Neurology, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
Kivity S; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Nakamura K; Department of Pediatrics, Yamagata University, Faculty of Medicine, Yamagata, Japan; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Leshinsky-Silver E; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Saitsu H; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Lerman-Sagie T; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: .
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2014 Sep; Vol. 18 (5), pp. 567-71. Date of Electronic Publication: 2014 Apr 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mosaicism*
Siblings*
Aicardi Syndrome/*genetics
Mutation/*genetics
NAV1.2 Voltage-Gated Sodium Channel/*genetics
Spasms, Infantile/*genetics
Child, Preschool ; DNA Mutational Analysis ; Electroencephalography ; Father-Child Relations ; Female ; Genetic Counseling ; Humans ; Male
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.
Autorzy :
Nishri D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Child Development Center, Central District, Maccabi Health Services, Tel Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel.
Edvardson S; Pediatric Neurology Unit, Hadassah Medical Center, Jerusalem, affiliated to Hebrew University, Jerusalem, Israel.
Lev D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel.
Leshinsky-Silver E; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Ben-Sira L; Pediatric Radiology Unit, Tel Aviv Medical Center, Tel Aviv, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Henneke M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Germany.
Lerman-Sagie T; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel.
Blumkin L; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address: .
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2014 Jul; Vol. 18 (4), pp. 495-501. Date of Electronic Publication: 2014 Apr 08.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alexander Disease/*diagnosis
Alexander Disease/*genetics
Exome/*genetics
Glial Fibrillary Acidic Protein/*genetics
Mitochondrial Diseases/*physiopathology
Mutation/*genetics
Arginine/genetics ; Child, Preschool ; Female ; Frontal Lobe/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Magnetic Resonance Imaging ; Tryptophan/genetics ; White Matter/pathology
Czasopismo naukowe
Tytuł :
Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.
Autorzy :
Leshinsky-Silver E; Molecular Genetics Lab, Wolfson Medical Center, Holon, Israel. />Ginzberg M
Dabby R
Sadeh M
Lev D
Lerman-Sagie T
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2013 Jan; Vol. 17 (1), pp. 64-7. Date of Electronic Publication: 2012 Sep 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Brachial Plexus Neuritis/*genetics
Septins/*genetics
Vocal Cord Paralysis/*genetics
Brachial Plexus Neuritis/complications ; Child, Preschool ; Female ; Humans ; Infant, Newborn ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
Autorzy :
Blumkin L; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Suls A
Deconinck T
De Jonghe P
Linder I
Kivity S
Dabby R
Leshinsky-Silver E
Lev D
Lerman-Sagie T
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2012 Jul; Vol. 16 (4), pp. 356-60. Date of Electronic Publication: 2011 Dec 14.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dyskinesias/*complications
Dyskinesias/*genetics
Epilepsy, Benign Neonatal/*complications
Epilepsy, Benign Neonatal/*genetics
KCNQ2 Potassium Channel/*genetics
Myoclonus/*complications
Myoclonus/*genetics
Adult ; Anticonvulsants/therapeutic use ; Carbamazepine/therapeutic use ; Developmental Disabilities/etiology ; Electroencephalography ; Electromyography ; Exons/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/complications ; Jews ; Male ; Mutation/genetics ; Mutation/physiology ; Mutation, Missense/genetics ; Neurologic Examination ; Pregnancy
Czasopismo naukowe
Tytuł :
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.
Autorzy :
Vardi O; Child Developmental Center, Rishon Lezion Maccabi Health Services, Wolfson Medical Center, Holon, Israel.
Davidovitch M
Vinkler C
Michelson M
Lerman-Sagie T
Lev D
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2012 Jan; Vol. 16 (1), pp. 95-8. Date of Electronic Publication: 2011 Jul 12.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Autistic Disorder/*etiology
Autistic Disorder/*genetics
Silver-Russell Syndrome/*complications
Silver-Russell Syndrome/*genetics
Trisomy/*genetics
Uniparental Disomy/*genetics
Child, Preschool ; Chromosomes, Human, Pair 7/genetics ; Developmental Disabilities/etiology ; Developmental Disabilities/genetics ; Humans ; Male ; Mosaicism
SCR Disease Name :
Chromosome 7, trisomy mosaic
Czasopismo naukowe
Tytuł :
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
Autorzy :
Michelson M; Institute of Medical Genetics, Wolfson Medical Center, 58100 Holon, Israel.
Eden A
Vinkler C
Leshinsky-Silver E
Kremer U
Lerman-Sagie T
Lev D
Pokaż więcej
Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2011 May; Vol. 15 (3), pp. 230-3. Date of Electronic Publication: 2010 Dec 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosomes, Human, Pair 15/*genetics
Epilepsy/*diagnosis
Epilepsy/*genetics
Schizophrenia/*genetics
Trisomy/*diagnosis
Trisomy/*genetics
Adult ; Age of Onset ; Anticonvulsants/therapeutic use ; Child ; Disease Progression ; Epilepsy/drug therapy ; Female ; Humans ; Inheritance Patterns/genetics ; Schizophrenia/drug therapy ; Treatment Failure
SCR Disease Name :
Chromosome 15q, trisomy
Czasopismo naukowe

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