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Items: 1 to 50 of 392

1.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N.

Eur J Med Genet. 2018 Nov 1. pii: S1769-7212(17)30771-1. doi: 10.1016/j.ejmg.2018.10.015. [Epub ahead of print]

PMID:
30391507
2.

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

Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW.

Front Mol Neurosci. 2018 Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018.

3.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.

J Hum Genet. 2018 Sep 27. doi: 10.1038/s10038-018-0516-x. [Epub ahead of print]

PMID:
30258207
4.

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

Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Sep 1. pii: S1090-3798(18)30372-6. doi: 10.1016/j.ejpn.2018.08.006. [Epub ahead of print]

PMID:
30209013
5.

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

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2018 Jul 26. pii: S1090-3798(18)30093-X. doi: 10.1016/j.ejpn.2018.07.003. [Epub ahead of print]

PMID:
30100179
6.

miR-133a function in the pathogenesis of dedifferentiated liposarcoma.

Yu PY, Lopez G, Braggio D, Koller D, Bill KLJ, Prudner BC, Zewdu A, Chen JL, Iwenofu OH, Lev D, Strohecker AM, Fenger JM, Pollock RE, Guttridge DC.

Cancer Cell Int. 2018 Jun 26;18:89. doi: 10.1186/s12935-018-0583-2. eCollection 2018.

7.

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

Haratz KK, Melcer Y, Leibovitz Z, Feit H, Lerman-Sagie T, Lev D, Ginath S, Gindes L, Moron AF, Malinger G.

Ultraschall Med. 2018 Jul 4. doi: 10.1055/a-0643-0490. [Epub ahead of print] No abstract available.

PMID:
29972845
8.

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

Haratz KK, Melcer Y, Leibovitz Z, Feit H, Lerman-Sagie T, Lev D, Ginath S, Gindes L, Moron AF, Malinger G.

Ultraschall Med. 2018 Jun 7. doi: 10.1055/a-0594-2053. [Epub ahead of print]

PMID:
29879744
9.

Multimodality Treatment of Desmoplastic Small Round Cell Tumor: Chemotherapy and Complete Cytoreductive Surgery Improve Patient Survival.

Subbiah V, Lamhamedi-Cherradi SE, Cuglievan B, Menegaz BA, Camacho P, Huh W, Ramamoorthy V, Anderson PM, Pollock RE, Lev DC, Qiao W, McAleer MF, Benjamin RS, Patel S, Herzog CE, Daw NC, Feig BW, Lazar AJ, Hayes-Jordan A, Ludwig JA.

Clin Cancer Res. 2018 Oct 1;24(19):4865-4873. doi: 10.1158/1078-0432.CCR-18-0202. Epub 2018 Jun 5.

PMID:
29871905
10.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Sagie S, Lerman-Sagie T, Maljevic S, Yosovich K, Detert K, Chung SK, Rees MI, Lerche H, Lev D.

Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129. No abstract available.

PMID:
29846532
11.

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

Blumkin L, Lerman-Sagie T, Westenberger A, Ben-Pazi H, Zerem A, Yosovich K, Lev D.

Neuropediatrics. 2018 Aug;49(4):246-255. doi: 10.1055/s-0038-1645884. Epub 2018 May 25.

PMID:
29801190
12.

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N.

Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208.

PMID:
29534297
13.

The fourth ventricle index - a sonographic marker for severe fetal vermian dysgenesis / agenesis.

Haratz KK, Shulevitz SL, Leibovitz Z, Lev D, Josef S, Tomarkin M, Malinger G, Lerman-Sagie T, Gindes L.

Ultrasound Obstet Gynecol. 2018 Feb 26. doi: 10.1002/uog.19034. [Epub ahead of print]

PMID:
29484745
14.

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

Sagi-Dain L, Maya I, Falik-Zaccai T, Feingold-Zadok M, Lev D, Yonath H, Kaliner E, Frumkin A, Ben Shachar S, Singer A.

Eur J Obstet Gynecol Reprod Biol. 2018 Mar;222:80-83. doi: 10.1016/j.ejogrb.2018.01.015. Epub 2018 Jan 23.

PMID:
29367169
15.

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

Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 May;22(3):525-531. doi: 10.1016/j.ejpn.2017.12.012. Epub 2017 Dec 26.

PMID:
29337005
16.

Mocetinostat combined with gemcitabine for the treatment of leiomyosarcoma: Preclinical correlates.

Lopez G, Braggio D, Zewdu A, Casadei L, Batte K, Bid HK, Koller D, Yu P, Iwenofu OH, Strohecker A, Choy E, Lev D, Pollock R.

PLoS One. 2017 Nov 29;12(11):e0188859. doi: 10.1371/journal.pone.0188859. eCollection 2017.

17.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.

18.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
19.

Clinicopathological variables of sporadic schwannomas of peripheral nerve in 291 patients and expression of biologically relevant markers.

Young ED, Ingram D, Metcalf-Doetsch W, Khan D, Al Sannaa G, Le Loarer F, Lazar AJF, Slopis J, Torres KE, Lev D, Pollock RE, McCutcheon IE.

J Neurosurg. 2018 Sep;129(3):805-814. doi: 10.3171/2017.2.JNS153004. Epub 2017 Sep 8.

PMID:
28885122
20.

Live cell near-field optical imaging and voltage sensing with ultrasensitive force control.

Brahami A, Levy H, Zlotkin-Rivkin E, Melamed-Book N, Tal N, Lev D, Yeshua T, Fedosyeyev O, Aroeti B, Lewis A.

Opt Express. 2017 May 29;25(11):12131-12143. doi: 10.1364/OE.25.012131.

PMID:
28786571
21.

Theta Neurofeedback Effects on Motor Memory Consolidation and Performance Accuracy: An Apparent Paradox?

Reiner M, Lev DD, Rosen A.

Neuroscience. 2018 May 15;378:198-210. doi: 10.1016/j.neuroscience.2017.07.022. Epub 2017 Jul 21.

PMID:
28736135
22.

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

Krajden Haratz K, Peled A, Weizman B, Gindes L, Tamarkin M, Lev D, Kidron D, Ben-Sira L, Malinger G, Lerman-Sagie T, Leibovitz Z.

Fetal Diagn Ther. 2018;43(1):53-60. doi: 10.1159/000464247. Epub 2017 Jun 17.

PMID:
28624828
23.

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Leshinsky-Silver E, Ling J, Wu J, Vinkler C, Yosovich K, Bahar S, Yanoov-Sharav M, Lerman-Sagie T, Lev D.

Neurogenetics. 2017 Jul;18(3):141-146. doi: 10.1007/s10048-017-0516-6. Epub 2017 Jun 15.

PMID:
28620870
24.

Exosome-Derived miR-25-3p and miR-92a-3p Stimulate Liposarcoma Progression.

Casadei L, Calore F, Creighton CJ, Guescini M, Batte K, Iwenofu OH, Zewdu A, Braggio DA, Bill KL, Fadda P, Lovat F, Lopez G, Gasparini P, Chen JL, Kladney RD, Leone G, Lev D, Croce CM, Pollock RE.

Cancer Res. 2017 Jul 15;77(14):3846-3856. doi: 10.1158/0008-5472.CAN-16-2984. Epub 2017 Jun 6.

25.

Wireless Communication with Nanoplasmonic Data Carriers: Macroscale Propagation of Nanophotonic Plasmon Polaritons Probed by Near-Field Nanoimaging.

Cohen M, Abulafia Y, Lev D, Lewis A, Shavit R, Zalevsky Z.

Nano Lett. 2017 Sep 13;17(9):5181-5186. doi: 10.1021/acs.nanolett.7b00266. Epub 2017 May 9.

PMID:
28467084
26.

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Pantaleoni F, Lev D, Cirstea IC, Motta M, Lepri FR, Bottero L, Cecchetti S, Linger I, Paolacci S, Flex E, Novelli A, Carè A, Ahmadian MR, Stellacci E, Tartaglia M.

Hum Mutat. 2017 Jul;38(7):798-804. doi: 10.1002/humu.23224. Epub 2017 May 3.

PMID:
28390077
27.

Verticillin A Inhibits Leiomyosarcoma and Malignant Peripheral Nerve Sheath Tumor Growth via Induction of Apoptosis.

Zewdu A, Lopez G, Braggio D, Kenny C, Constantino D, Bid HK, Batte K, Iwenofu OH, Oberlies NH, Pearce CJ, Strohecker AM, Lev D, Pollock RE.

Clin Exp Pharmacol. 2016 Nov;6(6). pii: 221. doi: 10.4172/2161-1459.1000221. Epub 2016 Oct 24.

28.

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

Gover-Proaktor A, Granot G, Shapira S, Raz O, Pasvolsky O, Nagler A, Lev DL, Inbal A, Lubin I, Raanani P, Leader A.

Leuk Lymphoma. 2017 Jun;58(6):1455-1467. doi: 10.1080/10428194.2016.1239258. Epub 2016 Oct 12.

PMID:
27733071
29.

Familial Brain Periventricular Pseudocysts.

Shinar S, Malinger G, Leibovitz Z, Ben-Sira L, Leshinsky-Silver E, Gindes L, Lerman-Sagie T, Kidron D, Lev D.

Fetal Diagn Ther. 2017;42(1):42-47. doi: 10.1159/000448951. Epub 2016 Oct 7.

PMID:
27710969
30.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.

Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.

31.

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

Kuperberg M, Lev D, Blumkin L, Zerem A, Ginsberg M, Linder I, Carmi N, Kivity S, Lerman-Sagie T, Leshinsky-Silver E.

J Child Neurol. 2016 Dec;31(14):1534-1539. Epub 2016 Aug 29.

PMID:
27572814
32.

Establishment and characterization of a new human myxoid liposarcoma cell line (DL-221) with the FUS-DDIT3 translocation.

de Graaff MA, Yu JS, Beird HC, Ingram DR, Nguyen T, Juehui Liu J, Bolshakov S, Szuhai K, Åman P, Torres KE, Lev D, Nielsen TO, Bovée JV, Lazar AJ, Somaiah N.

Lab Invest. 2016 Aug;96(8):885-94. doi: 10.1038/labinvest.2016.64. Epub 2016 Jun 6.

33.

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

Krajden Haratz K, Leibovitz Z, Svirsky R, Drummond CL, Lev D, Gindes L, Lerman-Sagie T, Malinger G.

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

PMID:
27049321
34.

MicroRNA-182 drives metastasis of primary sarcomas by targeting multiple genes.

Sachdeva M, Mito JK, Lee CL, Zhang M, Li Z, Dodd RD, Cason D, Luo L, Ma Y, Van Mater D, Gladdy R, Lev DC, Cardona DM, Kirsch DG.

J Clin Invest. 2016 Apr 1;126(4):1606. doi: 10.1172/JCI86573. Epub 2016 Apr 1. No abstract available.

35.

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

Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2016 May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012. Epub 2016 Mar 2.

PMID:
26970947
36.

Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero.

Leibovitz Z, Shiran C, Haratz K, Tamarkin M, Gindes L, Schreiber L, Malinger G, Ben-Sira L, Lev D, Shapiro I, Bakry H, Weizman B, Zreik A, Kidron D, Egenburg S, Arad A, Lerman-Sagie T.

Ultrasound Obstet Gynecol. 2016 May;47(5):593-9. doi: 10.1002/uog.15886.

37.

A picture is worth a thousand words? Not when it comes to associative memory of older adults.

Guez J, Lev D.

Psychol Aging. 2016 Feb;31(1):37-41. doi: 10.1037/pag0000069. Epub 2016 Jan 11.

PMID:
26751007
38.

Poly (ADP) ribose polymerase inhibition: A potential treatment of malignant peripheral nerve sheath tumor.

Kivlin CM, Watson KL, Al Sannaa GA, Belousov R, Ingram DR, Huang KL, May CD, Bolshakov S, Landers SM, Kalam AA, Slopis JM, McCutcheon IE, Pollock RE, Lev D, Lazar AJ, Torres KE.

Cancer Biol Ther. 2016;17(2):129-38. doi: 10.1080/15384047.2015.1108486. Epub 2015 Dec 9.

39.

Clinical Observations and Molecular Variables of Primary Vascular Leiomyosarcoma.

Roland CL, Boland GM, Demicco EG, Lusby K, Ingram D, May CD, Kivlin CM, Watson K, Al Sannaa GA, Wang WL, Ravi V, Pollock RE, Lev D, Cormier JN, Hunt KK, Feig BW, Lazar AJ, Torres KE.

JAMA Surg. 2016 Apr;151(4):347-54. doi: 10.1001/jamasurg.2015.4205.

40.

AXL is a potential therapeutic target in dedifferentiated and pleomorphic liposarcomas.

May CD, Garnett J, Ma X, Landers SM, Ingram DR, Demicco EG, Al Sannaa GA, Vu T, Han L, Zhang Y, Kivlin CM, Bolshakov S, Kalam AA, Liu J, Zhou F, Broccoli D, Wang WL, Lazar AJ, Pollock RE, Lev D, Torres KE.

BMC Cancer. 2015 Nov 14;15:901. doi: 10.1186/s12885-015-1916-3.

41.

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

Kidron D, Shapira D, Ben Sira L, Malinger G, Lev D, Cioca A, Sharony R, Lerman Sagie T.

Virchows Arch. 2016 Feb;468(2):219-30. doi: 10.1007/s00428-015-1872-y. Epub 2015 Nov 16.

PMID:
26573426
42.

Prediction of microcephaly at birth using three reference ranges for fetal head circumference: can we improve prenatal diagnosis?

Leibovitz Z, Daniel-Spiegel E, Malinger G, Haratz K, Tamarkin M, Gindes L, Schreiber L, Ben-Sira L, Lev D, Shapiro I, Bakry H, Weizman B, Zreik A, Egenburg S, Arad A, Tepper R, Kidron D, Lerman-Sagie T.

Ultrasound Obstet Gynecol. 2016 May;47(5):586-92. doi: 10.1002/uog.15801.

43.

SAR405838: A Novel and Potent Inhibitor of the MDM2:p53 Axis for the Treatment of Dedifferentiated Liposarcoma.

Bill KL, Garnett J, Meaux I, Ma X, Creighton CJ, Bolshakov S, Barriere C, Debussche L, Lazar AJ, Prudner BC, Casadei L, Braggio D, Lopez G, Zewdu A, Bid H, Lev D, Pollock RE.

Clin Cancer Res. 2016 Mar 1;22(5):1150-60. doi: 10.1158/1078-0432.CCR-15-1522. Epub 2015 Oct 16.

44.

MicroRNA-16 suppresses metastasis in an orthotopic, but not autochthonous, mouse model of soft tissue sarcoma.

Sachdeva M, Whitley MJ, Mito JK, Ma Y, Lev DC, Cardona DM, Kirsch DG.

Dis Model Mech. 2015 Sep;8(9):1169. doi: 10.1242/dmm.022582. No abstract available.

45.

HDAC Inhibition for the Treatment of Epithelioid Sarcoma: Novel Cross Talk Between Epigenetic Components.

Lopez G, Song Y, Lam R, Ruder D, Creighton CJ, Bid HK, Bill KL, Bolshakov S, Zhang X, Lev D, Pollock RE.

Mol Cancer Res. 2016 Jan;14(1):35-43. doi: 10.1158/1541-7786.MCR-15-0295. Epub 2015 Sep 22.

46.

Targeting the Notch pathway: A potential therapeutic approach for desmoid tumors.

Shang H, Braggio D, Lee YJ, Al Sannaa GA, Creighton CJ, Bolshakov S, Lazar AJ, Lev D, Pollock RE.

Cancer. 2015 Nov 15;121(22):4088-96. doi: 10.1002/cncr.29564. Epub 2015 Sep 8.

47.

Epigenetic silencing of Kruppel like factor-3 increases expression of pro-metastatic miR-182.

Sachdeva M, Dodd RD, Huang Z, Grenier C, Ma Y, Lev DC, Cardona DM, Murphy SK, Kirsch DG.

Cancer Lett. 2015 Dec 1;369(1):202-11. doi: 10.1016/j.canlet.2015.08.016. Epub 2015 Aug 24.

48.

Myogenic transcription factors regulate pro-metastatic miR-182.

Dodd RD, Sachdeva M, Mito JK, Eward WC, Brigman BE, Ma Y, Dodd L, Kim Y, Lev D, Kirsch DG.

Oncogene. 2016 Apr 7;35(14):1868-75. doi: 10.1038/onc.2015.252. Epub 2015 Aug 3.

49.

HDAC8, A Potential Therapeutic Target for the Treatment of Malignant Peripheral Nerve Sheath Tumors (MPNST).

Lopez G, Bill KL, Bid HK, Braggio D, Constantino D, Prudner B, Zewdu A, Batte K, Lev D, Pollock RE.

PLoS One. 2015 Jul 22;10(7):e0133302. doi: 10.1371/journal.pone.0133302. eCollection 2015.

50.

Increased H3K9me3 drives dedifferentiated phenotype via KLF6 repression in liposarcoma.

Keung EZ, Akdemir KC, Al Sannaa GA, Garnett J, Lev D, Torres KE, Lazar AJ, Rai K, Chin L.

J Clin Invest. 2015 Aug 3;125(8):2965-78. doi: 10.1172/JCI77976. Epub 2015 Jul 20.

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