Dorit Lev

Dorit Lev

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Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

Eur J Med Genet 2019 Nov 2:103801. Epub 2019 Nov 2.

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103801DOI Listing
November 2019

Brain white matter abnormalities associated with copy number variants.

Am J Med Genet A 2019 Oct 17. Epub 2019 Oct 17.

Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61389DOI Listing
October 2019

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

Ultraschall Med 2019 Aug 7;40(4):476-480. Epub 2018 Jun 7.

Affiliated with the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1055/a-0594-2053DOI Listing
August 2019

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Metab Brain Dis 2019 Aug 10;34(4):1043-1048. Epub 2019 Apr 10.

Metabolic Neurogenetic Service, Pediatric Neurology Unit, Wolfson Medical Center, Halochamim 62, Holon, Israel.

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http://dx.doi.org/10.1007/s11011-019-00415-2DOI Listing
August 2019

Familial Intracranial Hypertension in 2 Brothers With Mutation: Expansion of the Phenotypic Spectrum.

J Child Neurol 2019 Aug 2;34(9):506-510. Epub 2019 May 2.

1 Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/0883073819842970DOI Listing
August 2019

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

Am J Med Genet A 2019 Aug 5;179(8):1575-1579. Epub 2019 Jun 5.

Pediatric Neurology Unit, Holon, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61196DOI Listing
August 2019

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Am J Med Genet A 2019 01 4;179(1):78-84. Epub 2018 Dec 4.

Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.a.6DOI Listing
January 2019

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

Eur J Paediatr Neurol 2018 Nov 26;22(6):1133-1138. Epub 2018 Jul 26.

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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http://dx.doi.org/10.1016/j.ejpn.2018.07.003DOI Listing
November 2018

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.

Eur J Paediatr Neurol 2018 Nov 1;22(6):900-909. Epub 2018 Sep 1.

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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http://dx.doi.org/10.1016/j.ejpn.2018.08.006DOI Listing
November 2018

Lacosamide for SCN2A-related intractable neonatal and infantile seizures.

Epileptic Disord 2018 10;20(5):440-446

Pediatric Neurology and Development Center, Assaf Harofe Medical Center, Zerifin,, Sackler faculty of medicine, Tel Aviv University, Tel Aviv.

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http://dx.doi.org/10.1684/epd.2018.1001DOI Listing
October 2018

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.

Neuropediatrics 2018 08 25;49(4):246-255. Epub 2018 May 25.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1055/s-0038-1645884DOI Listing
August 2018

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

Ultraschall Med 2018 Jul 4. Epub 2018 Jul 4.

Affiliated with the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1055/a-0643-0490DOI Listing
July 2018

Familial Brain Periventricular Pseudocysts.

Fetal Diagn Ther 2017 7;42(1):42-47. Epub 2016 Oct 7.

Fetal Neurology Clinic, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1159/000448951DOI Listing
May 2018

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Eur J Paediatr Neurol 2018 May 26;22(3):525-531. Epub 2017 Dec 26.

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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http://dx.doi.org/10.1016/j.ejpn.2017.12.012DOI Listing
May 2018

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results.

Eur J Obstet Gynecol Reprod Biol 2018 Mar 23;222:80-83. Epub 2018 Jan 23.

Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ejogrb.2018.01.015DOI Listing
March 2018

Ponatinib reduces viability, migration, and functionality of human endothelial cells.

Leuk Lymphoma 2017 06 12;58(6):1455-1467. Epub 2016 Oct 12.

b The Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.

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http://dx.doi.org/10.1080/10428194.2016.1239258DOI Listing
June 2017

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.

Fetal Diagn Ther 2016 7;40(4):277-284. Epub 2016 Apr 7.

Division of Prenatal Diagnosis, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1159/000444298DOI Listing
February 2017

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

Eur J Paediatr Neurol 2016 May 2;20(3):412-7. Epub 2016 Mar 2.

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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http://dx.doi.org/10.1016/j.ejpn.2016.02.012DOI Listing
May 2016

Agenesis of the corpus callosum. An autopsy study in fetuses.

Virchows Arch 2016 Feb 16;468(2):219-30. Epub 2015 Nov 16.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s00428-015-1872-yDOI Listing
February 2016

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Eur J Paediatr Neurol 2015 Nov 9;19(6):733-6. Epub 2015 Jul 9.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.06.006DOI Listing
November 2015

Pathways mediating the interaction between endothelial progenitor cells (EPCs) and platelets.

PLoS One 2014 5;9(6):e95156. Epub 2014 Jun 5.

The Felsenstein Medical Research Institute, Petah-Tikva, Israel; Cardiology Department, Rabin Medical Center, Jabotinsky St, Petah- Tikva, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0095156PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046960PMC
August 2015

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

Eur J Paediatr Neurol 2015 Jul 3;19(4):472-6. Epub 2015 Mar 3.

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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http://dx.doi.org/10.1016/j.ejpn.2015.02.005DOI Listing
July 2015

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Eur J Paediatr Neurol 2015 May 8;19(3):292-7. Epub 2015 Jan 8.

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.

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http://dx.doi.org/10.1016/j.ejpn.2014.12.018DOI Listing
May 2015

Copy number variations in cryptogenic cerebral palsy.

Neurology 2015 Apr 27;84(16):1660-8. Epub 2015 Mar 27.

From the Medical Genetics Institute (R.S., S.Z., S.P., E.L.-L.) and Neuropediatric Unit (H.B.-P., A.A., V.G.-T.), Shaare Zedek Medical Center, Jerusalem; Pediatric Neurology Unit (A.F.-V., N.S.-S.), Dana Children's Hospital, Tel Aviv; Jerusalem Child Development Center (D.S.), Clalit, Jerusalem; Metabolic-Neurogenetic Clinic (D.L., L.B.), Wolfson Medical Center, Holon; and Biostatistical Consulting (L.D.), BioStats, Israel.

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http://www.neurology.org/content/84/16/1660.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000149
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http://dx.doi.org/10.1212/WNL.0000000000001494DOI Listing
April 2015

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

J Child Neurol 2015 Mar 22;30(4):490-5. Epub 2014 Sep 22.

Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

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http://dx.doi.org/10.1177/0883073814549241DOI Listing
March 2015

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Eur J Med Genet 2014 May-Jun;57(6):288-92. Epub 2014 Apr 5.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.010DOI Listing
February 2015

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

J Genet Genomics 2015 Feb 10;42(2):79-81. Epub 2015 Jan 10.

Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2014.12.004DOI Listing
February 2015

Costeff syndrome: clinical features and natural history.

J Neurol 2014 Dec 9;261(12):2275-82. Epub 2014 Sep 9.

Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel,

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http://dx.doi.org/10.1007/s00415-014-7481-xDOI Listing
December 2014

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.

J Clin Endocrinol Metab 2014 Dec;99(12):E2799-804

Instituto de Investigaciones Biomédicas Alberto Sols (D.L.-E., C.G.-M., J.B., A.G.-F.), Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, E-28029 Madrid, Spain; Carrera de Tecnología Médica (D.L.-E.), Facultad de Medicina, Universidad de Valparaíso, Alcalde Sergio Prieto Nieto 452, 2581907 Viña del Mar, Chile; Department of Pathology (C.M.-B.), La Paz University Hospital, E-28046 Madrid, Spain; Center for Biomedical Research on Rare Diseases (C.G-M., J.B.), Unit 708, E-28040 Madrid, Spain; Departments of Medicine (X.-H.L., S.R.), Pediatrics (S.R.), and Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637; Institute of Medical Genetics (D.L.), Wolfson Medical Center, Holon 58100, Israel; South Eastern Area Laboratory Services (E.S.), Prince of Wales Hospital, Randwick 2031, Australia; Sydney Children's Hospital (C.F.V.), Randwick, and School of Women's and Children's Health (C.F.V.), University of New South Wales, Sydney 2010, Australia.

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http://dx.doi.org/10.1210/jc.2014-2162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255116PMC
December 2014

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

Eur J Paediatr Neurol 2014 Sep 18;18(5):567-71. Epub 2014 Apr 18.

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:

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http://dx.doi.org/10.1016/j.ejpn.2014.04.008DOI Listing
September 2014

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

Am J Med Genet A 2014 Aug 30;164A(8):1940-6. Epub 2014 Apr 30.

The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.36583DOI Listing
August 2014

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Eur J Paediatr Neurol 2014 Jul 8;18(4):495-501. Epub 2014 Apr 8.

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:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.009DOI Listing
July 2014

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Epilepsia 2014 Jul 2;55(7):994-1000. Epub 2014 Jun 2.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan; Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1111/epi.12668DOI Listing
July 2014

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

J Med Genet 2014 May 27;51(5):303-8. Epub 2014 Feb 27.

Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-101823
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http://dx.doi.org/10.1136/jmedgenet-2013-101823DOI Listing
May 2014

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology 2013 Sep 9;81(11):992-8. Epub 2013 Aug 9.

From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatric Neurology (K. Haginoya), Takuto Rehabilitation Center for Children, Sendai; Department of Pediatrics (J.T.), Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata; Department of Pediatrics (S.S.), Osaka Medical College Hospital, Osaka; National Epilepsy Center (K.I.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka; Department of Pediatrics (S.T.), Yokohama City University Medical Center, Yokohama; Department of Pediatrics (H.I.), Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan; Metabolic Neurogenetic Clinic (D.L., T.L.-S.), Wolfson Medical Center, Holon, Israel; Department of Human Genetics (D.E.C.-B., C.E.V.), National Institute of Pediatrics, Mexico City, Mexico; Division of Child Neurology (M. Ohfu), Okinawa Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Institute of Medical Genetics (K.W.), University Medical Center Ljubljana; Department of Child, Adolescent and Developmental Neurology (B.G.S.), University Children's Hospital, Ljubljana, Slovenia; Department of Neurology (S.H.), Nagano Children's Hospital, Nagano, Japan; Department of Obstetrics and Gynecology (D.C.), The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto; and Division of Clinical and Metabolic Genetics (D.C., D.M.R.), The Hospital for Sick Children, University of Toronto, Canada.

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http://www.neurology.org/content/early/2013/08/09/WNL.0b013e
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182a43e5
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http://dx.doi.org/10.1212/WNL.0b013e3182a43e57DOI Listing
September 2013

The fetal vermis, pons and brainstem: normal longitudinal development as shown by dedicated neurosonography.

J Matern Fetal Neonatal Med 2013 May 13;26(8):757-62. Epub 2013 Jan 13.

Department of Obstetrics and Gynecology, Edith Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Holon, Israel.

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http://dx.doi.org/10.3109/14767058.2012.755508DOI Listing
May 2013

Resolution of epileptic encephalopathy following treatment with transdermal nicotine.

Epilepsia 2013 Jan 12;54(1):e13-5. Epub 2012 Oct 12.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03715.xDOI Listing
January 2013

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.

Acta Neuropathol 2012 Oct 3;124(4):575-81. Epub 2012 Jul 3.

Department of Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-012-1007-3DOI Listing
October 2012

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.

J Genet Couns 2012 Aug 23;21(4):557-63. Epub 2011 Nov 23.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1007/s10897-011-9422-5DOI Listing
August 2012

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero.

J Child Neurol 2012 Aug 12;27(8):1000-3. Epub 2012 Jan 12.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1177/0883073811431013DOI Listing
August 2012

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

Eur J Paediatr Neurol 2012 Jul 14;16(4):356-60. Epub 2011 Dec 14.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2011.11.004DOI Listing
July 2012

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.

Am J Med Genet A 2012 Jun 14;158A(6):1395-9. Epub 2012 May 14.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.35361DOI Listing
June 2012

Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.

Fetal Diagn Ther 2011 11;30(4):309-13. Epub 2011 Oct 11.

Fetal Neurology Clinic, Edith Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1159/000330121DOI Listing
May 2012

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

J Neurol Sci 2012 May 10;316(1-2):112-5. Epub 2012 Feb 10.

Molecular Genetic Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.jns.2012.01.012DOI Listing
May 2012

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

Neurogenetics 2012 Feb;13(1):73-6

Department of Medical Genetics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10048-012-0314-0DOI Listing
February 2012

Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.

Eur J Paediatr Neurol 2012 Jan 12;16(1):95-8. Epub 2011 Jul 12.

Child Developmental Center, Rishon Lezion Maccabi Health Services, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2011.05.009DOI Listing
January 2012

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.

Am J Med Genet A 2011 Dec 3;155A(12):2991-6. Epub 2011 Nov 3.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1002/ajmg.a.34316DOI Listing
December 2011

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Clin Immunol 2011 Sep 7;140(3):284-90. Epub 2011 May 7.

Pediatric Infectious/Allergy/Inmunology Unit, E. Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.clim.2011.04.011DOI Listing
September 2011

Imaging of fetal cytomegalovirus infection.

Fetal Diagn Ther 2011 17;29(2):117-26. Epub 2010 Nov 17.

Fetal Neurology Clinic, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1159/000321346DOI Listing
June 2011

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

J Neurol Sci 2011 Jun 25;305(1-2):67-70. Epub 2011 Mar 25.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel- Aviv University, Israel.

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http://dx.doi.org/10.1016/j.jns.2011.03.011DOI Listing
June 2011

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.

Eur J Paediatr Neurol 2011 May 8;15(3):230-3. Epub 2010 Dec 8.

Institute of Medical Genetics, Wolfson Medical Center, 58100 Holon, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2010.11.001DOI Listing
May 2011

Israeli children with autism spectrum disorder are not macrocephalic.

J Child Neurol 2011 May 4;26(5):580-5. Epub 2011 Apr 4.

Child Development Center, Jerusalem and Shfela District, Maccabi Healthcare Services, Israel.

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http://dx.doi.org/10.1177/0883073810387666DOI Listing
May 2011

Prenatal brain disruption in molybdenum cofactor deficiency.

J Child Neurol 2011 Apr 31;26(4):460-4. Epub 2011 Jan 31.

Child Development Center, Macabi Health Services, Bnei-Brak, Israel.

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http://dx.doi.org/10.1177/0883073810383017DOI Listing
April 2011

Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?

Prenat Diagn 2011 Apr 17;31(4):360-6. Epub 2011 Jan 17.

The Academic College of Tel-Aviv-Yafo, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/pd.2694DOI Listing
April 2011

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

Eur J Paediatr Neurol 2010 Sep 13;14(5):456-9. Epub 2010 Apr 13.

Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2010.03.002DOI Listing
September 2010

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

J Child Neurol 2010 Jul 21;25(7):892-7. Epub 2010 Jan 21.

Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel- Aviv University, Holon, Israel.

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http://dx.doi.org/10.1177/0883073809351316DOI Listing
July 2010

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

Mol Genet Metab 2010 May 10;100(1):65-70. Epub 2010 Feb 10.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.002DOI Listing
May 2010

[Microcephaly diagnosed during pregnancy].

Harefuah 2010 Jan;149(1):37-40, 62

Department of Behavioral Sciences, Academic College of Tel Aviv, Tel Aviv, Israel.

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January 2010

[Developmental outcome of fetal macrocephaly and associated syndromes].

Harefuah 2010 Jan;149(1):41-4, 62, 61

Behavioral Science Department, Academic College Tel Aviv.

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January 2010

Developmental outcome of children with enlargement of the cisterna magna identified in utero.

J Child Neurol 2009 Dec 23;24(12):1486-92. Epub 2009 Feb 23.

Department of Neuroscience, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073808331358DOI Listing
December 2009

Familial leukoencephalopathy with slowly progressive dystonia and ataxia.

Eur J Paediatr Neurol 2009 Nov 13;13(6):530-3. Epub 2008 Dec 13.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2008.11.004DOI Listing
November 2009

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

Mol Genet Metab 2009 Jul 11;97(3):185-9. Epub 2009 Mar 11.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.002DOI Listing
July 2009

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.

Am J Med Genet A 2009 May;149A(5):868-76

Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.32732DOI Listing
May 2009

The fetal cerebellum. Pitfalls in diagnosis and management.

Prenat Diagn 2009 Apr;29(4):372-80

Fetal Neurology Clinic, Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, Tel Aviv University, Tel Aviv, Israel.

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http://doi.wiley.com/10.1002/pd.2196
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http://dx.doi.org/10.1002/pd.2196DOI Listing
April 2009

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

Epilepsia 2009 Apr 9;50(4):953-6. Epub 2009 Mar 9.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02023.xDOI Listing
April 2009

[Enlargement of the fetal posterior fossa--what is the significance?].

Harefuah 2008 Nov;147(11):873-8, 941

Department of Neuroscience, Sackler Faculty of Medicine, Tel Aviv University, Israel.

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November 2008