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1

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Ghayda M. Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman-Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham Jr, William B. Dobyns

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.32 MB

english, 2012

2

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

Karen W. Gripp, Elizabeth Hopkins, Chana Vinkler, Dorit Lev, Gustavo Malinger, Tally Lerman-Sagie, William B. Dobyns

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 412 KB

english, 2009

3

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

Sagi-Dain, Lena, Maya, Idit, Falik-Zaccai, Tzipora, Feingold-Zadok, Michal, Lev, Dorit, Yonath, Hagit, Kaliner, Ehud, Frumkin, Ayala, Ben Shachar, Shay, Singer, Amihood

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2018

Language:

english

File:

PDF, 625 KB

english, 2018

4

Association between consumption of Herbalife® nutritional supplements and acute hepatotoxicity

Eran Elinav, Galia Pinsker, Rifaat Safadi, Orit Pappo, Michal Bromberg, Emilia Anis, Lital Keinan-Boker, Efrat Broide, Zvi Ackerman, Dorit Nitzan Kaluski, Boaz Lev, Daniel Shouval

Journal:

Journal of Hepatology

Year:

2007

Language:

english

File:

PDF, 450 KB

english, 2007

5

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, Stanley H. Korman, Alexander Lossos, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Jerry Vockley, Gerard T. Berry, Anne-Marie Lamhonwah, Dietrich

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

6

Behavioral Phenotypes of Genetic Syndromes: A Reference Guide for Psychiatrists

MOLDAVSKY, MARIA, LEV, DORIT, LERMAN-SAGIE, TALLY, D, M.K.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2001

Language:

english

File:

PDF, 154 KB

english, 2001

7

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population

Tein, Ingrid, Elpeleg, Orly, Ben-Zeev, Bruria, Korman, Stanley H., Lossos, Alexander, Lev, Dorit, Lerman-Sagie, Tally, Vockley, Gerard, Berry, Gerard T., Lamhownah, Anne-Marie, Matern, Dieter, Roe, Ch

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 15 KB

english, 2007

8

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

Ohba, Chihiro, Shiina, Masaaki, Tohyama, Jun, Haginoya, Kazuhiro, Lerman-Sagie, Tally, Okamoto, Nobuhiko, Blumkin, Lubov, Lev, Dorit, Mukaida, Souichi, Nozaki, Fumihito, Uematsu, Mitsugu, Onuma, Akira

Journal:

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

9

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter

Haratz, Karina, Melcer, Yaakov, Leibovitz, Zvi, Feit, Hagit, Kerman-Sagie, Tally, Lev, Dorit, Ginath, Shimon, Gindes, Liat, Moron, Antonio, Malinger, Gustavo

Journal:

Ultraschall in der Medizin / European Journal of Ultrasound

Year:

2018

Language:

english

File:

PDF, 183 KB

english, 2018

10

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

Wimberg, Hanna, Lev, Dorit, Yosovich, Keren, Namburi, Prasanthi, Banin, Eyal, Sharon, Dror, Koch, Karl-Wilhelm

Journal:

Frontiers in Molecular Neuroscience

Year:

2018

Language:

english

File:

PDF, 2.70 MB

english, 2018

11

Active Tuberculosis in Patients with Psoriasis Receiving Biologic Therapy: A Systematic Review

Snast, Igor, Bercovici, Einav, Solomon-Cohen, Efrat, Avni, Tomer, Shitenberg, Dorit, Hodak, Emmilia, Pavlovsky, Lev

Journal:

American Journal of Clinical Dermatology

Year:

2019

Language:

english

File:

PDF, 831 KB

english, 2019

12

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

Berkenstadt, Michal, Lev, Dorit, Achiron, Reuven, Rosner, Mordechay, Barkai, Gad

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 142 KB

english, 1999

13

Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue

Aviram-Goldring, Ayala, Fritz, Barbara, Bartsch, Christine, Steuber, Elke, Daniely, Michal, Lev, Dorit, Chaki, Rina, Barkai, Gad, Frydman, Moshe, Rehder, Helga

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 698 KB

english, 2000

14

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Lisa L. Wang, Moise L. Levy, Richard A. Lewis, Murali M. Chintagumpala, Dorit Lev, Maureen Rogers, Sharon E. Plon

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 290 KB

english, 2001

15

A new autosomal recessive syndrome with Zellweger-like manifestations

Joe K. Ahn, Dorit Lev, Esther Leshinsky-Silver, Mira Ginzberg, Tally Lerman-Sagie

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 138 KB

english, 2003

16

Familial optic atrophy with white matter changes

Chana Vinkler, Dorit Lev, Hadas Kalish, Nathan Watemberg, Miri Yanoov-Sharav, Esther Leshinsky-Silver, Tally Lerman-Sagie

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

17

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

Dorit Lev, Yuval Weigl, Mariana Hasan, Eva Gak, Michael Davidovich, Chana Vinkler, Esther Leshinsky-Silver, Tally Lerman-Sagie, Nathan Watemberg

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 207 KB

english, 2007

18

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

Ayelet Zerem, Chana Vinkler, Marina Michelson, Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Lev

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.14 MB

english, 2011

19

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients

Liat Ries-Levavi, Tsofia Ish-Shalom, Moshe Frydman, Dorit Lev, Shirley Cohen, Gad Barkai, Boleslaw Goldman, Peter Byers, Eitan Friedman

Journal:

Year:

2004

Language:

english

File:

PDF, 37 KB

english, 2004

20

Erratum: Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients

Liat Ries-Levavi, Tsofia Ish-Shalom, Moshe Frydman, Dorit Lev, Shirley Cohen, Gad Barkai, Boleslaw Goldman, Peter Byers, Eitan Friedman

Journal:

Year:

2004

Language:

english

File:

PDF, 16 KB

english, 2004

21

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

Lubov Blumkin, Dorit Lev, Nathan Watemberg, Tally Lerman-Sagie

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 98 KB

english, 2007

22

The fetal cerebellum. Pitfalls in diagnosis and management

Gustavo Malinger, Dorit Lev, Tally Lerman-Sagie

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

23

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

Natalie Farkas, Chen Hoffmann, Liat Ben-Sira, Dorit Lev, Avraham Schweiger, Dvora Kidron, Tally Lerman-Sagie, Gustavo Malinger

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

24

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

Esther Leshinsky-Silver, Michal Perach, Erena Basilevsky, Eli Hershkovitz, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

25

Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy

Sigi Rotmensch, Claudio Celentano, Oscar Sadan, Marco Liberati, Dorit Lev, Marek Glezerman

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

26

Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990–2000

Eliahu G. Stoupel, Helena Frimer, Zvi Appelman, Ziva Ben-Neriah, Hanna Dar, Moshe D. Fejgin, Ruth Gershoni-Baruch, Esther Manor, Gad Barkai, Stavit Shalev, Zully Gelman-Kohan, Orit Reish, Dorit Lev, B

Journal:

International Journal of Biometeorology

Year:

2005

Language:

english

File:

PDF, 248 KB

english, 2005

27

Exposure to platelets promotes functional properties of endothelial progenitor cells

Dorit Leshem-Lev, Alexander Omelchenko, Leor Perl, Ran Kornowski, Alexander Battler, Eli I. Lev

Journal:

Journal of Thrombosis and Thrombolysis

Year:

2010

Language:

english

File:

PDF, 437 KB

english, 2010

28

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Cristina Gomez-Abad, Zaid Afawi, Amos D. Korczyn, Adel Misk, Stavit A. Shalev, Ronen Spiegel, Tally Lerman-Sagie, Dorit Lev, Katherine L. Kron, Pilar Gómez-Garre, Jose M. Serratosa, Samuel F. Berkovic

Journal:

Year:

2007

Language:

english

File:

PDF, 110 KB

english, 2007

29

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

Angelique E. J. Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, Radwa A. B. Badawy, Leanne Dibbens, Aziz Mazarib, Dorit Lev, Tally Lerman-Sagie, Rachel Straussberg, Samuel F. Berkovic, Ingrid E.

Journal:

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

30

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

Leshinsky-Silver, Esther, Malinger, Gustavo, Ben-Sira, Liat, Kidron, Dvora, Cohen, Sarit, Inbar, Shani, Bezaleli, Tali, Levine, Arie, Vinkler, Chana, Lev, Dorit

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 482 KB

english, 2010

31

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

Marina Michelson, Anat Ben-Sasson, Chana Vinkler, Esther Leshinsky-Silver, Ifat Netzer, Ayala Frumkin, Sara Kivity, Tally Lerman-Sagie, Dorit Lev

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

32

Intestinal obstruction due to phytobezoar in childhood

Francis Serour, Arkadi Gorenstein, Moritz Kaufman, Dorit Lev

Journal:

Pediatric Surgery International

Year:

1992

Language:

english

File:

PDF, 604 KB

english, 1992

33

Mutation in theAP4B1gene cause hereditary spastic paraplegia type 47 (SPG47)

Peter Bauer, Esther Leshinsky-Silver, Lubov Blumkin, Nina Schlipf, Christopher Schröder, Julia Schicks, Dorit Lev, Olaf Riess, Tally Lerman-Sagie, Ludger Schöls

Journal:

Year:

2012

Language:

english

File:

PDF, 184 KB

english, 2012

34

Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population

Yanoov-Sharav, Miri, Leshinsky-Silver, Esther, Cohen, Sarit, Vinkler, Chana, Michelson, Marina, Lerman-Sagie, Tally, Ginzberg, Mira, Sadeh, Menahem, Lev, Dorit

Journal:

Journal of Genetic Counseling

Year:

2012

Language:

english

File:

PDF, 210 KB

english, 2012

35

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine, Dan Su, Ginat Narkis, Rivka Ofir, Chen Hoffmann, Esther Leshinsky-Silver, Hagit Flusser, Sara Sivan, Dieter Söll, Tally Lerman-Sagie, O

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.26 MB

english, 2010

36

Comparison between neurosonography and MRI in the evaluation of fetal CNS pathologies – A blinded study

Zahi Ben-Aroya, Liat Ben-Sira, Dorit Lev, Tally Lerman-Sagie, Gustavo Malinger

Journal:

American Journal of Obstetrics and Gynecology

Year:

2005

Language:

english

File:

PDF, 90 KB

english, 2005

37

Circulating Endothelial Progenitor Cells in Patients With Dysfunctional Versus Normally Functioning Congenitally Bicuspid Aortic Valves

Mordehay Vaturi, Leor Perl, Dorit Leshem-Lev, Oshrat Dadush, Tamir Bental, Yaron Shapira, Idit Yedidya, Gabi Greenberg, Ran Kornowski, Alexander Sagie, Alexander Battler, Eli I. Lev

Journal:

The American Journal of Cardiology

Year:

2011

Language:

english

File:

PDF, 603 KB

english, 2011

38

Temporal changes in cortical activation during distraction from pain: A comparative LORETA study with conditioned pain modulation

Ruth Moont, Yonatan Crispel, Rina Lev, Dorit Pud, David Yarnitsky

Journal:

Year:

2012

Language:

english

File:

PDF, 2.92 MB

english, 2012

39

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

Ilan Dalal, Diana Tasher, Raz Somech, Amos Etzioni, Ben-Zion Garti, Dorit Lev, Sarit Cohen, Eli Somekh, Esther Leshinsky-Silver

Journal:

Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 986 KB

english, 2011

40

Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis

Gustavo Malinger, Neriman Zahalka, Dvora Kidron, Liat Ben-Sira, Dorit Lev, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 160 KB

english, 2006

41

A benign congenital myopathy in an inbred Samaritan family

Dorit Lev, Menachem Sadeh, Nathan Watemberg, Ron Dabby, Chana Vinkler, Mira Ginzberg, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 329 KB

english, 2006

42

Letter to the editor

Dorit Lev, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 151 KB

english, 2007

43

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration—A late onset variant of PCH-1?

Dorit Lev, Marina Michelson-Kerman, Chana Vinkler, Lubov Blumkin, Stavit A. Shalev, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 667 KB

english, 2008

44

Letter to the Editor

Tally Lerman-Sagie, Dorit Lev

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 69 KB

english, 2009

45

Familial leukoencephalopathy with slowly progressive dystonia and ataxia

Lubov Blumkin, Hanna Mandel, Marieta Anca-Herschkovitsch, Sara Kivity, Dorit Lev, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

46

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

Daniella Nishri, Lubov Blumkin, Dorit Lev, Esther Leshinsky-Silver, Mohammad Abu-Rashid, Rachael Birch, Sameer M. Zuberi, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 121 KB

english, 2010

47

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

Marina Michelson, Avi Eden, Chana Vinkler, Esther Leshinsky-Silver, Uri Kremer, Tally Lerman-Sagie, Dorit Lev

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 183 KB

english, 2011

48

Autistic regression in a child with Silver–Russell Syndrome and maternal UPD 7

Orna Vardi, Michael Davidovitch, Chana Vinkler, Marina Michelson, Tally Lerman-Sagie, Dorit Lev

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

49

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

Lubov Blumkin, Arvid Suls, Tine Deconinck, Peter De Jonghe, Ilan Linder, Sara Kivity, Ron Dabby, Esther Leshinsky-Silver, Dorit Lev, Tally Lerman-Sagie

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 629 KB

english, 2012

50

Temporal changes in cortical activation during conditioned pain modulation (CPM), a LORETA study

Ruth Moont, Yonatan Crispel, Rina Lev, Dorit Pud, David Yarnitsky

Journal:

Year:

2011

Language:

english

File:

PDF, 421 KB

english, 2011

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