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Items: 49

1.

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting BJ, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B.

Hum Mutat. 2019 Nov 6. doi: 10.1002/humu.23945. [Epub ahead of print]

PMID:
31692205
2.

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Staretz-Chacham O, Shukrun R, Barel O, Pode-Shakked B, Pleniceanu O, Anikster Y, Shalva N, Ferreira CR, Ben-Haim Kadosh A, Richardson J, Mane SM, Hildebrandt F, Vivante A.

Am J Med Genet A. 2019 Oct;179(10):2112-2118. doi: 10.1002/ajmg.a.61334. Epub 2019 Aug 24.

PMID:
31444901
3.

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M.

Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019.

4.

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation.

Lev A, Simon AJ, Barel O, Eyal E, Glick-Saar E, Nayshool O, Birk O, Stauber T, Hochberg A, Broides A, Almashanu S, Hendel A, Lee YN, Somech R.

Front Immunol. 2019 Jul 17;10:1672. doi: 10.3389/fimmu.2019.01672. eCollection 2019.

5.

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A.

Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y.

6.

Neonatal osteoma cutis due to a mutation in GNAS.

Levy-Shraga Y, Barel O, Javasky E, Barzilai A, Greenberger S.

Pediatr Dermatol. 2019 Sep;36(5):732-734. doi: 10.1111/pde.13879. Epub 2019 Jun 18.

PMID:
31215057
7.

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

Frizinsky S, Rechavi E, Barel O, Najeeb RH, Greenberger S, Lee YN, Simon AJ, Lev A, Ma CA, Sun G, Blackstone SA, Milner JD, Somech R, Stauber T.

J Clin Immunol. 2019 May;39(4):401-413. doi: 10.1007/s10875-019-00629-0. Epub 2019 Apr 29.

PMID:
31037583
8.

BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.

Pode-Shakked N, Barel O, Pode-Shakked B, Eliyahu A, Singer A, Nayshool O, Kol N, Raas-Rothschild A, Pras E, Shohat M.

Mol Genet Genomic Med. 2019 Jun;7(6):e665. doi: 10.1002/mgg3.665. Epub 2019 Apr 24.

9.

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, Abudi S, Eliyahu A, Tirosh I, Shpilman S, Shril S, Hildebrandt F, Shohat M, Anikster Y.

BMC Med Genet. 2019 Mar 29;20(1):53. doi: 10.1186/s12881-019-0787-x.

10.

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype.

Salomon O, Barel O, Eyal E, Ganor RS, Kleinbaum Y, Shohat M.

Appl Clin Genet. 2019 Feb 28;12:27-33. doi: 10.2147/TACG.S190599. eCollection 2019.

11.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.

Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. No abstract available.

12.

Sustained Response to Imatinib in a Pediatric Patient with Concurrent Myeloproliferative Disease and Lymphoblastic Lymphoma Associated with a CCDC88C-PDGFRB Fusion Gene.

Bielorai B, Leitner M, Goldstein G, Mehrian-Shai R, Trakhtenbrot L, Fisher T, Marcu V, Yalon M, Schiby G, Barel O, Cal N, Golan H, Toren A.

Acta Haematol. 2019;141(2):119-127. doi: 10.1159/000495687. Epub 2019 Feb 6.

PMID:
30726835
13.

Laparoscopic Removal of an Abdominal Pregnancy in the Pelvic Sidewall.

Barel O, Suday RR, Stanleigh J, Pansky M.

J Minim Invasive Gynecol. 2019 Sep - Oct;26(6):1007-1008. doi: 10.1016/j.jmig.2018.12.020. Epub 2019 Jan 9.

PMID:
30639318
14.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.

Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):357.

15.

Abdominal muscle weakness as a presenting symptom in GNE myopathy.

Barel O, Kogan E, Sadeh M, Kol N, Nayschool O, Benninger F.

J Clin Neurosci. 2019 Jan;59:316-317. doi: 10.1016/j.jocn.2018.10.122. Epub 2018 Nov 3. No abstract available.

PMID:
30401567
16.

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Greenbaum L, Gilboa Y, Raas-Rothschild A, Barel O, Kol N, Reznik-Wolf H, Pode-Shakked B, Finezilber Y, Messing B, Berkenstadt M.

Eur J Med Genet. 2019 Mar;62(3):167-171. doi: 10.1016/j.ejmg.2018.07.004. Epub 2018 Jul 10.

PMID:
30006055
17.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y.

Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.

18.

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.

Vardi I, Barel O, Sperber M, Schvimer M, Nunberg M, Field M, Ouahed J, Marek-Yagel D, Werner L, Haberman Y, Lahad A, Anikster Y, Rechavi G, Barshack I, McElwee JJ, Maranville J, Somech R, Snapper SB, Weiss B, Shouval DS.

Dig Dis Sci. 2018 May;63(5):1192-1199. doi: 10.1007/s10620-018-4983-x. Epub 2018 Feb 26.

19.

Somatic NRAS mutation in patient with generalized lymphatic anomaly.

Manevitz-Mendelson E, Leichner GS, Barel O, Davidi-Avrahami I, Ziv-Strasser L, Eyal E, Pessach I, Rimon U, Barzilai A, Hirshberg A, Chechekes K, Amariglio N, Rechavi G, Yaniv K, Greenberger S.

Angiogenesis. 2018 May;21(2):287-298. doi: 10.1007/s10456-018-9595-8. Epub 2018 Feb 3.

PMID:
29397482
20.

LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

Berkenstadt M, Pode-Shakked B, Barel O, Barash H, Achiron R, Gilboa Y, Kidron D, Raas-Rothschild A.

J Ultrasound Med. 2018 Jul;37(7):1827-1833. doi: 10.1002/jum.14520. Epub 2018 Jan 13.

PMID:
29331079
21.

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y.

J Immunol. 2017 Dec 15;199(12):4036-4045. doi: 10.4049/jimmunol.1700460. Epub 2017 Nov 10.

22.

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

Levy-Mendelovich S, Lev A, Rechavi E, Barel O, Golan H, Bielorai B, Neumann Y, Simon AJ, Somech R.

Clin Exp Immunol. 2017 Sep;189(3):310-317. doi: 10.1111/cei.12986. Epub 2017 Jun 5.

23.

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y.

Brain. 2017 Mar 1;140(3):568-581. doi: 10.1093/brain/awx002. Erratum in: Brain. 2018 Apr 1;141(4):e34.

24.

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A.

Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16.

PMID:
27807845
25.

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

Haberman Y, Di Segni A, Loberman-Nachum N, Barel O, Kunik V, Eyal E, Kol N, Hout-Siloni G, Kochavi B, Avivi C, Schvimer M, Rechavi G, Anikster Y, Barshack I, Weiss B.

J Pediatr Gastroenterol Nutr. 2017 May;64(5):770-776. doi: 10.1097/MPG.0000000000001424.

PMID:
27749612
26.

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Rechavi E, Lev A, Eyal E, Barel O, Kol N, Barhom SF, Pode-Shakked B, Anikster Y, Somech R, Simon AJ.

J Clin Immunol. 2016 Nov;36(8):801-809. Epub 2016 Oct 12.

PMID:
27734333
27.

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.

Solomon O, Kunik V, Simon A, Kol N, Barel O, Lev A, Amariglio N, Somech R, Rechavi G, Eyal E.

BMC Genomics. 2016 Aug 26;17:681. doi: 10.1186/s12864-016-3028-0.

28.

Primary leiomyosarcoma of the omentum presenting as an ovarian carcinoma, case report and review of the literature.

Barel O, Qian C, Manolitsas T.

Gynecol Oncol Rep. 2016 Jul 7;17:75-8. doi: 10.1016/j.gore.2016.07.002. eCollection 2016 Aug.

29.

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R.

J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.

30.

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Dionisi-Vici C, Shteyer E, Niceta M, Rizzo C, Pode-Shakked B, Chillemi G, Bruselles A, Semeraro M, Barel O, Eyal E, Kol N, Haberman Y, Lahad A, Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, Anikster Y.

J Inherit Metab Dis. 2016 Sep;39(5):689-695. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1.

PMID:
27368975
31.

Primary Ovarian Ectopic Pregnancy: Still a Medical Challenge.

Melcer Y, Maymon R, Vaknin Z, Pansky M, Mendlovic S, Barel O, Smorgick N.

J Reprod Med. 2016 Jan-Feb;61(1-2):58-62.

PMID:
26995890
32.

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.

Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, Weiss B, Gahl WA, Anikster Y.

Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17.

33.

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B.

Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28.

PMID:
26138499
34.

Intrauterine adhesions after hysteroscopic treatment for retained products of conception: what are the risk factors?

Barel O, Krakov A, Pansky M, Vaknin Z, Halperin R, Smorgick N.

Fertil Steril. 2015 Mar;103(3):775-9. doi: 10.1016/j.fertnstert.2014.11.016. Epub 2014 Dec 17.

PMID:
25527235
35.

A search for the most accurate formula for sonographic weight estimation by fetal sex - a retrospective cohort study.

Barel O, Maymon R, Barak U, Smorgick N, Tovbin J, Vaknin Z.

Prenat Diagn. 2014 Dec;34(13):1337-44. doi: 10.1002/pd.4482. Epub 2014 Sep 17.

PMID:
25123290
36.

Evaluation of Fetal Weight Estimation Formulas in Assessing Small-for-Gestational-Age Fetuses.

Barel O, Maymon R, Elovits M, Smorgick N, Tovbin J, Vaknin Z.

Ultraschall Med. 2016 Jun;37(3):283-9. doi: 10.1055/s-0034-1384907. Epub 2014 Jul 30.

PMID:
25075910
37.

Hysteroscopic management of retained products of conception: meta-analysis and literature review.

Smorgick N, Barel O, Fuchs N, Ben-Ami I, Pansky M, Vaknin Z.

Eur J Obstet Gynecol Reprod Biol. 2014 Feb;173:19-22. doi: 10.1016/j.ejogrb.2013.11.020. Epub 2013 Dec 1. Review.

PMID:
24332096
38.

Sonographic fetal weight estimation - is there more to it than just fetal measurements?

Barel O, Maymon R, Vaknin Z, Tovbin J, Smorgick N.

Prenat Diagn. 2014 Jan;34(1):50-5. doi: 10.1002/pd.4250. Epub 2013 Nov 17.

PMID:
24122854
39.

Assessment of the accuracy of multiple sonographic fetal weight estimation formulas: a 10-year experience from a single center.

Barel O, Vaknin Z, Tovbin J, Herman A, Maymon R.

J Ultrasound Med. 2013 May;32(5):815-23. doi: 10.7863/ultra.32.5.815.

PMID:
23620324
40.

[The findings and sequence of events leading to termination of pregnancy due to Down's syndrome--before and after the verge of viability: 10 years experience at a single medical center].

Baruchin O, Maymon R, Herman A, Tuvbin Y, Barel O, Zimerman A, Vaknin Z.

Harefuah. 2012 Nov;151(11):602-6, 656. Hebrew.

PMID:
23367726
41.

Do assisted conception twins have an increased risk for anencephaly?

Ben-Ami I, Edel Y, Barel O, Vaknin Z, Herman A, Maymon R.

Hum Reprod. 2011 Dec;26(12):3466-71. doi: 10.1093/humrep/der326. Epub 2011 Oct 6.

PMID:
21984575
42.

Return to flight with multiple sclerosis: aeromedical considerations.

Zinger H, Grossman A, Assa A, Barel O, Barenboim E, Levite R.

Aviat Space Environ Med. 2011 Jan;82(1):61-4.

PMID:
21235109
43.

Termination of pregnancy due to fetal abnormalities performed after 23 weeks' gestation: analysis of indications in 144 cases from a single medical center.

Vaknin Z, Lahat Y, Barel O, Ben-Ami I, Reish O, Herman A, Maymon R.

Fetal Diagn Ther. 2009;25(2):291-6. doi: 10.1159/000229501. Epub 2009 Jul 24.

PMID:
19628945
44.

Laparoscopic removal of adnexal cysts: is it possible to decrease inadvertent intraoperative rupture rate?

Smorgick N, Barel O, Halperin R, Schneider D, Pansky M.

Am J Obstet Gynecol. 2009 Mar;200(3):237.e1-3. doi: 10.1016/j.ajog.2008.10.030.

PMID:
19254579
45.

Fetal abnormalities leading to third trimester abortion: nine-year experience from a single medical center.

Barel O, Vaknin Z, Smorgick N, Reish O, Mendlovic S, Herman A, Maymon R.

Prenat Diagn. 2009 Mar;29(3):223-8. doi: 10.1002/pd.2188.

PMID:
19177335
46.

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS.

Am J Hum Genet. 2008 Aug;83(2):193-9. doi: 10.1016/j.ajhg.2008.07.010.

47.

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS.

Am J Hum Genet. 2008 May;82(5):1211-6. doi: 10.1016/j.ajhg.2008.03.020. Epub 2008 Apr 24.

48.

Clinical, sonographic, and epidemiologic features of second- and early third-trimester spontaneous antepartum uterine rupture: a cohort study.

Vaknin Z, Maymon R, Mendlovic S, Barel O, Herman A, Sherman D.

Prenat Diagn. 2008 Jun;28(6):478-84. doi: 10.1002/pd.2001.

PMID:
18437708
49.

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