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Items: 1 to 50 of 97

1.

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.

Hurvitz N, Dinur T, Becker-Cohen M, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Abramov A, Zimran A, Revel-Vilk S.

Int J Mol Sci. 2019 Jun 21;20(12). pii: E3033. doi: 10.3390/ijms20123033.

2.

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.

Blood. 2019 May 7. pii: blood.2018891192. doi: 10.1182/blood.2018891192. [Epub ahead of print]

PMID:
31064749
3.

Official communication of the SSC: Recommendations for future research in catheter-related arterial thrombosis in children.

Albisetti M, Rizzi M, Bonduel M, Revel-Vilk S, Goldenberg N; Pediatric and Neonatal Thrombosis and Haemostasis Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Res Pract Thromb Haemost. 2019 Jan 15;3(2):193-196. doi: 10.1002/rth2.12179. eCollection 2019 Apr.

4.

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease.

Arkadir D, Dinur T, Becker Cohen M, Revel-Vilk S, Tiomkin M, Brüggemann N, Cozma C, Rolfs A, Zimran A.

Eur J Neurol. 2019 Jul;26(7):1013-1018. doi: 10.1111/ene.13927. Epub 2019 Mar 1.

PMID:
30714262
5.

Family history of venous thromboembolism in the paediatric population: The need for a standardized definition.

Hau A, Wegener E, Ignjatovic V, Revel-Vilk S, Monagle P.

Thromb Res. 2019 Jan;173:91-95. doi: 10.1016/j.thromres.2018.11.016. Epub 2018 Nov 16. Review.

PMID:
30500675
6.

Central venous catheter-related venous thrombosis in children with end-stage renal disease undergoing hemodialysis.

Mandel-Shorer N, Tzvi-Behr S, Harvey E, Revel-Vilk S.

Thromb Res. 2018 Dec;172:150-157. doi: 10.1016/j.thromres.2018.10.031. Epub 2018 Oct 31. Review.

PMID:
30414505
7.

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

Revel-Vilk S, Shai E, Turro E, Jahshan N, Hi-Am E, Spectre G, Daum H, Kalish Y, Althaus K, Greinacher A, Kaplinsky C, Izraeli S, Mapeta R, Deevi SVV, Jarocha D, Ouwehand WH, Downes K, Poncz M, Varon D, Lambert MP.

Blood. 2018 Oct 25;132(17):1851-1854. doi: 10.1182/blood-2018-04-845545. Epub 2018 Aug 31. No abstract available.

PMID:
30171045
8.

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa.

Zimran A, Dinur T, Revel-Vilk S, Akkerman EM, van Dussen L, Hollak CEM, Maayan H, Altarescu G, Chertkoff R, Maas M.

J Inherit Metab Dis. 2018 Nov;41(6):1259-1265. doi: 10.1007/s10545-018-0195-y. Epub 2018 Jul 31.

9.

Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease.

Zimran A, Revel-Vilk S, Becker-Cohen M, Chicco G, Arbel N, Rolfs A, Szer J.

Am J Hematol. 2018 Sep;93(9):E246-E248. doi: 10.1002/ajh.25205. Epub 2018 Aug 9. No abstract available.

10.

How we manage Gaucher Disease in the era of choices.

Revel-Vilk S, Szer J, Mehta A, Zimran A.

Br J Haematol. 2018 Aug;182(4):467-480. doi: 10.1111/bjh.15402. Epub 2018 May 29. Review.

PMID:
29808905
11.

Catheter-Related Arterial Thrombosis in Neonates and Children: A Systematic Review.

Rizzi M, Goldenberg N, Bonduel M, Revel-Vilk S, Amankwah E, Albisetti M.

Thromb Haemost. 2018 Jun;118(6):1058-1066. doi: 10.1055/s-0038-1642635. Epub 2018 Apr 25.

PMID:
29695022
12.

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T.

Eur J Med Genet. 2018 Oct;61(10):616-620. doi: 10.1016/j.ejmg.2018.04.005. Epub 2018 Apr 12.

PMID:
29655802
13.

Glucosylsphingosine is a reliable response biomarker in Gaucher disease.

Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, Eichler S, Rolfs A, Zimran A.

Am J Hematol. 2018 Jun;93(6):E140-E142. doi: 10.1002/ajh.25074. Epub 2018 Mar 15. No abstract available.

14.

Patient blood management programs: how to spread the word?

Revel-Vilk S, Naamad M.

Isr J Health Policy Res. 2018 Jan 15;7(1):8. doi: 10.1186/s13584-018-0204-5.

15.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium, Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD.

Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21.

16.

Non-fermentative Gram-negative rods bacteremia in children with cancer: a 14-year single-center experience.

Averbuch D, Avaky C, Harit M, Stepensky P, Fried I, Ben-Ami T, Temper V, Peled Y, Troen H, Masarwa R, Abu Ahmad W, Weintraub M, Revel-Vilk S, Engelhard D.

Infection. 2017 Jun;45(3):327-334. doi: 10.1007/s15010-017-0988-1. Epub 2017 Feb 15.

PMID:
28205160
17.

Quantitation of bleeding symptoms in a national registry of patients with inherited platelet disorders.

Revel-Vilk S, Richter C, Ben-Ami T, Yacobovich J, Aviner S, Ben-Barak A, Kuperman AA, Ben-Barak S, Kaplinsky C, Miskin H, Tamary H, Kenet G.

Blood Cells Mol Dis. 2017 Sep;67:59-62. doi: 10.1016/j.bcmd.2016.11.013. Epub 2016 Dec 18.

PMID:
27998672
18.

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P.

J Pediatr. 2016 Oct;177:316-320. doi: 10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 8.

PMID:
27514238
19.

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.

Schipp C, Nabhani S, Bienemann K, Simanovsky N, Kfir-Erenfeld S, Assayag-Asherie N, Oommen PT, Revel-Vilk S, Hönscheid A, Gombert M, Ginzel S, Schäfer D, Laws HJ, Yefenof E, Fleckenstein B, Borkhardt A, Stepensky P, Fischer U.

Haematologica. 2016 Oct;101(10):e392-e396. Epub 2016 Jun 30. No abstract available.

20.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

21.

Neonatal haemostasis. Impact on bleeding and thrombosis.

Revel-Vilk S.

Hamostaseologie. 2016 Nov 7;36(4):261-264. Epub 2016 Jan 21. Review.

PMID:
26790378
22.

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B.

J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025.

PMID:
26768763
23.

Ewing Sarcoma: A 15-Year Experience of a Single Center With the MSKCC P6 Treatment Protocol.

Ben-Ami T, Waldman E, Marc W, Weintraub M, Revel-Vilk S, Fried I.

J Pediatr Hematol Oncol. 2016 Jan;38(1):38-42. doi: 10.1097/MPH.0000000000000456.

PMID:
26670840
24.

Skin Necrosis and Purpura Fulminans in Children With and Without Thrombophilia--A Tertiary Center's Experience.

Fruchtman Y, Strauss T, Rubinstein M, Ben Harush M, Revel-Vilk S, Kapelushmik J, Paret G, Kenet G.

Pediatr Hematol Oncol. 2015;32(7):505-10. doi: 10.3109/08880018.2015.1068896. Epub 2015 Oct 5.

PMID:
26436558
25.

Association between renal cystic lesions and bilateral Wilms' tumours.

Simanovsky N, Revel-Vilk S, Weintraub M, Hiller N.

Eur Radiol. 2016 Jun;26(6):1665-9. doi: 10.1007/s00330-015-3976-9. Epub 2015 Sep 2.

PMID:
26328928
26.

Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia.

Gerrits AJ, Leven EA, Frelinger AL 3rd, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, Michelson AD, Bussel JB.

Blood. 2015 Sep 10;126(11):1367-78. doi: 10.1182/blood-2014-09-602573. Epub 2015 Jul 29.

27.

Inferior vena cava (IVC) filters in children: A 10-year single center experience.

Rottenstreich A, Revel-Vilk S, Bloom AI, Kalish Y.

Pediatr Blood Cancer. 2015 Nov;62(11):1974-8. doi: 10.1002/pbc.25641. Epub 2015 Jul 15.

PMID:
26184562
28.

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.

Nabhani S, Ginzel S, Miskin H, Revel-Vilk S, Harlev D, Fleckenstein B, Hönscheid A, Oommen PT, Kuhlen M, Thiele R, Laws HJ, Borkhardt A, Stepensky P, Fischer U.

Haematologica. 2015 Sep;100(9):1189-98. doi: 10.3324/haematol.2014.114967. Epub 2015 Jun 25.

29.

Hematopoietic Stem Cell Transplantations for Primary Immune Deficiencies: 3 Decades of Experience From a Tertiary Medical Center.

Rousso SZ, Shamriz O, Zilkha A, Braun J, Averbuch D, Or R, Weintraub M, Revel-Vilk S, Stepensky P.

J Pediatr Hematol Oncol. 2015 Jul;37(5):e295-300. doi: 10.1097/MPH.0000000000000352.

PMID:
25985240
30.

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, Gombert M, Hönscheid A, Saleh H, Shaag A, Borkhardt A, Grimbacher B, Warnatz K, Elpeleg O, Stepensky P.

Clin Immunol. 2015 Jul;159(1):84-92. doi: 10.1016/j.clim.2015.04.007. Epub 2015 Apr 27.

PMID:
25931386
31.

Infections caused by Fusobacterium in children: a 14-year single-center experience.

Shamriz O, Engelhard D, Temper V, Revel-Vilk S, Benenson S, Brooks R, Tenenbaum A, Stepensky P, Koplewitz B, Kaufmann M, Averbuch D.

Infection. 2015 Dec;43(6):663-70. doi: 10.1007/s15010-015-0782-x. Epub 2015 May 1.

PMID:
25929419
32.

An infant with a diagnostically challenging hepatic teratoma, hypofibrinogenemia, and adrenal neuroblastoma: case report.

Fried I, Rom-Gross E, Finegold M, Simanovsky N, Revel-Vilk S, Ben-Neriah Z, Weintraub M, Pappo O, Meir K.

Pediatr Dev Pathol. 2015 May-Jun;18(3):251-6. doi: 10.2350/13-08-1361-CR.1. Epub 2015 Mar 10.

PMID:
25756389
33.

Post-thrombotic syndrome after central venous catheter removal in childhood cancer survivors: A prospective cohort study.

Polen E, Weintraub M, Stoffer C, Jaffe DH, Burger A, Revel-Vilk S.

Pediatr Blood Cancer. 2015 Feb;62(2):285-290. doi: 10.1002/pbc.25302. Epub 2014 Oct 30.

PMID:
25359689
34.

Activity of cytochrome P450 1A2 in relation to hepatic iron accumulation in transfusion-dependent β-thalassaemia major patients.

Shteyer E, Nitzan I, Godfarb A, Hemed N, Revel-Vilk S.

Vox Sang. 2015 Apr;108(3):268-73. doi: 10.1111/vox.12223. Epub 2014 Dec 4.

PMID:
25471486
35.

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S.

Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20.

36.

Patient and central venous catheter related risk factors for blood stream infections in children receiving chemotherapy.

Yacobovich J, Ben-Ami T, Abdalla T, Tamary H, Goldstein G, Weintraub M, Yaniv I, Toren A, Kenet G, Revel-Vilk S.

Pediatr Blood Cancer. 2015 Mar;62(3):471-6. doi: 10.1002/pbc.25281. Epub 2014 Oct 18.

PMID:
25327811
37.

Age and duration of bleeding symptoms at diagnosis best predict resolution of childhood immune thrombocytopenia at 3, 6, and 12 months.

Revel-Vilk S, Yacobovich J, Frank S, Ben-Ami T, Yechieli M, Shkalim V, Lebel A, Semo-Oz R, Tamary H.

J Pediatr. 2013 Nov;163(5):1335-9.e1-2. doi: 10.1016/j.jpeds.2013.06.018. Epub 2013 Jul 25.

PMID:
23891349
38.

Topical curcumin for the prevention of oral mucositis in pediatric patients: case series.

Elad S, Meidan I, Sellam G, Simaan S, Zeevi I, Waldman E, Weintraub M, Revel-Vilk S.

Altern Ther Health Med. 2013 May-Jun;19(3):21-4.

PMID:
23709456
39.

Childhood immune thrombocytopenia--who will spontaneously recover?

Yacobovich J, Revel-Vilk S, Tamary H.

Semin Hematol. 2013 Jan;50 Suppl 1:S71-4. doi: 10.1053/j.seminhematol.2013.03.013. Review.

40.

Impact of conditioning on outcome of hematopoietic stem cell transplantation for wiskott-Aldrich syndrome.

Stepensky P, Krauss A, Goldstein G, Zaidman I, Elhasid R, Bielorai B, Somech R, Or R, Stein J, Revel-Vilk S, Weintraub M.

J Pediatr Hematol Oncol. 2013 Aug;35(6):e234-8. doi: 10.1097/MPH.0b013e318279cbfc.

PMID:
23389496
41.

The conundrum of neonatal coagulopathy.

Revel-Vilk S.

Hematology Am Soc Hematol Educ Program. 2012;2012:450-4. doi: 10.1182/asheducation-2012.1.450. Review.

PMID:
23233618
42.

Standardization of post-thrombotic syndrome definition and outcome assessment following upper venous system thrombosis in pediatric practice.

Revel-Vilk S, Brandão LR, Journeycake J, Goldenberg NA, Monagle P, Sharathkumar A, Chan AK; Perinatal And Paediatric Haemostasis Subcommittee Of The Scientific And Standardization Committee Of The International Society On Thrombosis And Haemostasis.

J Thromb Haemost. 2012 Oct;10(10):2182-5. Review. No abstract available. Erratum in: J Thromb Haemost. 2014 Nov;12(11):1948. Goldenberg, A [corrected to Goldenberg, N A].

PMID:
23193586
43.

The use of DDAVP in children with bleeding disorders.

Ben-Ami T, Revel-Vilk S.

Pediatr Blood Cancer. 2013;60 Suppl 1:S41-3. doi: 10.1002/pbc.24335. Epub 2012 Oct 25. Review.

PMID:
23109357
44.

A sequential treatment algorithm for infants with stage 4s neuroblastoma and massive hepatomegaly.

Weintraub M, Waldman E, Koplewitz B, Bloom AI, Gross E, Freeman AI, Revel-Vilk S.

Pediatr Blood Cancer. 2012 Jul 15;59(1):182-4. doi: 10.1002/pbc.23186. Epub 2011 May 16.

PMID:
22605456
45.

Clinical outcome of umbilical artery catheter-related thrombosis - a cohort study.

Ergaz Z, Simanovsky N, Rozovsky K, Leil SA, Ofek-Shlomai N, Revel-Vilk S, Bar-Oz B.

J Perinatol. 2012 Dec;32(12):933-40. doi: 10.1038/jp.2012.4. Epub 2012 Apr 19.

PMID:
22517035
46.

Definition of post-thrombotic syndrome following lower extremity deep venous thrombosis and standardization of outcome measurement in pediatric clinical investigations.

Goldenberg NA, Brandão L, Journeycake J, Kahn S, Monagle P, Revel-vilk S, Sharathkumar A, Chan AK; Perinatal And Paediatric Haemostasis Subcommittee Of The Scientific And Standardization Committee Of The International Society On Thrombosis And Haemostasis.

J Thromb Haemost. 2012 Mar;10(3):477-80. Review. No abstract available.

PMID:
22482118
47.

Clinical and laboratory assessment of the bleeding pediatric patient.

Revel-Vilk S.

Semin Thromb Hemost. 2011 Oct;37(7):756-62. doi: 10.1055/s-0031-1297166. Epub 2011 Dec 20. Review.

PMID:
22187398
48.

Anemia in children with down syndrome.

Tenenbaum A, Malkiel S, Wexler ID, Levy-Khademi F, Revel-Vilk S, Stepensky P.

Int J Pediatr. 2011;2011:813541. doi: 10.1155/2011/813541. Epub 2011 Sep 14.

49.

Underdiagnosed menorrhagia in adolescents is associated with underdiagnosed anemia.

Revel-Vilk S, Paltiel O, Lipschuetz M, Ilan U, Hyam E, Shai E, Varon D, Revel A.

J Pediatr. 2012 Mar;160(3):468-72. doi: 10.1016/j.jpeds.2011.08.014. Epub 2011 Sep 16.

PMID:
21925680
50.

Effect of intracranial bleeds on the neurocognitive, academic, behavioural and adaptive functioning of boys with haemophilia.

Miles BS, Anderson P, Agostino A, Golomb MR, Achonu C, Blanchette V, Feldman BM, McLimont M, Revel-Vilk S, Stain A, Barnes MA.

Haemophilia. 2012 Mar;18(2):229-34. doi: 10.1111/j.1365-2516.2011.02632.x. Epub 2011 Sep 12.

PMID:
21910786

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