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Items: 1 to 50 of 227

1.

Noncoding deletions reveal a gene that is critical for intestinal function.

Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA.

Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19.

PMID:
31217582
2.

Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis.

Gazit I, Gildener-Leapman J, Or L, Burkat CN, Pras E, Hartstein ME.

Ophthalmic Plast Reconstr Surg. 2019 May 28. doi: 10.1097/IOP.0000000000001410. [Epub ahead of print]

PMID:
31162300
3.

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.

4.

Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.

Ben Ner D, Sher I, Hamburg A, Mhajna MO, Chibel R, Derazne E, Sharvit-Ginon I, Pras E, Newman H, Levy J, Khateb S, Sharon D, Rotenstreich Y.

Clin Ophthalmol. 2019 Mar 5;13:465-475. doi: 10.2147/OPTH.S191486. eCollection 2019.

5.

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].

Sharon D, Ben-Yosef T, Pras E, Goldenberg-Cohen N, Gradstein L, Shomron N, Birk O, Ehrenberg M, Levy J, Mezer E, Soudry S, Rotenstreich Y, Newman H, Leibu R, Banin E, Perlman I.

Harefuah. 2019 Feb;158(2):91-95. Hebrew.

PMID:
30779484
6.

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Eyal O, Berkenstadt M, Reznik-Wolf H, Poran H, Ziv-Baran T, Greenbaum L, Yonath H, Pras E.

Mol Genet Genomic Med. 2019 Apr;7(4):e00573. doi: 10.1002/mgg3.573. Epub 2019 Jan 28.

7.

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.

Domniz N, Ries-Levavi L, Cohen Y, Marom-Haham L, Berkenstadt M, Pras E, Glicksman A, Tortora N, Latham GJ, Hadd AG, Nolin SL, Elizur SE.

Front Genet. 2018 Dec 13;9:606. doi: 10.3389/fgene.2018.00606. eCollection 2018.

8.

Outcome of Nonsurgical Management of Extra-Abdominal, Trunk, and Abdominal Wall Desmoid-Type Fibromatosis: A Population-Based Study in the Netherlands.

van Broekhoven DLM, Verschoor AJ, van Dalen T, Grünhagen DJ, den Bakker MA, Gelderblom H, Bovee JVMG, Haas RLM, Bonenkamp HJ, van Coevorden F, Ten Oever D, van der Graaf WTA, Flucke UE, Pras E, Reyners AKL, Westermann AM, Oldenburger F, Verhoef C, Steeghs N.

Sarcoma. 2018 Jun 21;2018:5982575. doi: 10.1155/2018/5982575. eCollection 2018.

9.

SMYD1 is the underlying gene for the AnWj-negative blood group phenotype.

Yahalom V, Pillar N, Zhao Y, Modan S, Fang M, Yosephi L, Asher O, Shinar E, Celniker G, Resnik-Wolf H, Brantz Y, Hauschner H, Rosenberg N, Cheng L, Shomron N, Pras E.

Eur J Haematol. 2018 Oct;101(4):496-501. doi: 10.1111/ejh.13133. Epub 2018 Aug 3.

PMID:
29956848
10.

Hepatic Iron Overload following Liver Transplantation from a C282Y/H63D Compound Heterozygous Donor.

Veitsman E, Pras E, Pappo O, Arish A, Eshkenazi R, Feray C, Calderaro J, Azoulay D, Ari ZB.

Case Reports Hepatol. 2018 May 31;2018:4298649. doi: 10.1155/2018/4298649. eCollection 2018.

11.

Fractures after multimodality treatment of soft tissue sarcomas with isolated limb perfusion and radiation; likely to occur and hard to heal.

Seinen JM, Jutte PC, Been LB, Pras E, Hoekstra HJ.

Eur J Surg Oncol. 2018 Sep;44(9):1398-1405. doi: 10.1016/j.ejso.2018.04.012. Epub 2018 Apr 24.

PMID:
29789188
12.

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.

Hanany M, Allon G, Kimchi A, Blumenfeld A, Newman H, Pras E, Wormser O, S Birk O, Gradstein L, Banin E, Ben-Yosef T, Sharon D.

Eur J Hum Genet. 2018 Aug;26(8):1159-1166. doi: 10.1038/s41431-018-0152-0. Epub 2018 Apr 30.

PMID:
29706639
13.

Hyperthermic isolated limb perfusion, preoperative radiotherapy, and surgery (PRS) a new limb saving treatment strategy for locally advanced sarcomas.

Stevenson MG, Seinen JM, Pras E, Brouwers AH, van Ginkel RJ, van Leeuwen BL, Suurmeijer AJH, Been LB, Hoekstra HJ.

J Surg Oncol. 2018 Jun;117(7):1447-1454. doi: 10.1002/jso.25008. Epub 2018 Feb 26.

PMID:
29484661
14.

Identification of predictors for wound complications following preoperative or postoperative radiotherapy in extremity soft tissue sarcoma.

Stevenson MG, Ubbels JF, Slump J, Huijing MA, Bastiaannet E, Pras E, Hoekstra HJ, Been LB.

Eur J Surg Oncol. 2018 Jun;44(6):816-822. doi: 10.1016/j.ejso.2018.02.002. Epub 2018 Feb 9.

PMID:
29472042
15.

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.

De Boer M, Gavrieli R, van Leeuwen K, Wolf HR, Dushnitzki M, Bar-Yosef Y, Bar-Ziv A, Behar D, Lipitz S, Miller TE, Tool ATJ, Kuijpers TW, van den Berg TK, Wolach B, Roos D, Pras E.

J Med Genet. 2018 Mar;55(3):166-172. doi: 10.1136/jmedgenet-2017-105022. Epub 2018 Jan 13.

PMID:
29331982
16.

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E.

Ophthalmology. 2018 May;125(5):725-734. doi: 10.1016/j.ophtha.2017.11.014. Epub 2017 Dec 22.

PMID:
29276052
17.

A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls.

Lidar M, Brantz Y, Shinar Y, Reznik-Wolf H, Livneh A, Ben Zvi I, Cohen R, Berkun Y, Hashkes PJ, Peleg H, Kessel A, Slobodin G, Rozenbaum M, Goldzweig O, Pras E.

Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):82-85. Epub 2017 Oct 6.

PMID:
29148409
18.

Novelties in the field of autoimmunity - 1st Saint Petersburg congress of autoimmunity, the bridge between east and west.

Dahan S, Segal Y, Watad A, Azrielant S, Shemer A, Maymon D, Stroev YI, Sobolevskaya PA, Korneva EA, Blank M, Gilburd B, Shovman O, Amital H, Ehrenfeld M, Tanay A, Kivity S, Pras E, Chapman J, Damoiseaux J, Cervera R, Putterman C, Shapiro I, Mouthon L, Perricone R, Bizzaro N, Koren O, Riemekasten G, Chereshnev VA, Mazurov VI, Goloviznin M, Gurevich V, Churilov LP, Shoenfeld Y.

Autoimmun Rev. 2017 Dec;16(12):1175-1184. doi: 10.1016/j.autrev.2017.10.001. Epub 2017 Oct 14. Review. No abstract available.

PMID:
29037903
19.

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A.

Eur J Paediatr Neurol. 2018 Jan;22(1):93-101. doi: 10.1016/j.ejpn.2017.09.004. Epub 2017 Sep 15.

PMID:
28967629
20.

Superior and Lateral Rectus Myopexy for Acquired Adult Distance Esotropia: A "One Size Fits All" Surgery.

Morad Y, Pras E, Nemet A.

Strabismus. 2017 Sep;25(3):140-144. doi: 10.1080/09273972.2017.1349816. Epub 2017 Jul 31.

PMID:
28759293
21.

Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers.

Schayek H, Laitman Y, Katz LH, Pras E, Ries-Levavi L, Barak F, Friedman E.

Isr Med Assoc J. 2017 Jun;19(6):365-367.

22.

NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.

Shoshany N, Avni I, Morad Y, Weiner C, Einan-Lifshitz A, Pras E.

Curr Eye Res. 2017 Sep;42(9):1240-1244. doi: 10.1080/02713683.2017.1304560. Epub 2017 May 30.

PMID:
28557584
23.

Reversal of cystoid macular edema in gyrate atrophy patients.

Heller D, Weiner C, Nasie I, Anikster Y, Landau Y, Koren T, Pokroy R, Abulafia A, Pras E.

Ophthalmic Genet. 2017 Dec;38(6):549-554. doi: 10.1080/13816810.2017.1301966. Epub 2017 Apr 7.

PMID:
28388263
24.

Anakinra for Colchicine-Resistant Familial Mediterranean Fever: A Randomized, Double-Blind, Placebo-Controlled Trial.

Ben-Zvi I, Kukuy O, Giat E, Pras E, Feld O, Kivity S, Perski O, Bornstein G, Grossman C, Harari G, Lidar M, Livneh A.

Arthritis Rheumatol. 2017 Apr;69(4):854-862. doi: 10.1002/art.39995.

25.

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D.

Am J Hum Genet. 2016 Nov 3;99(5):1222-1223. doi: 10.1016/j.ajhg.2016.09.012. No abstract available.

26.

Macular Corneal Dystrophy and Posterior Corneal Abnormalities.

Rubinstein Y, Weiner C, Einan-Lifshitz A, Chetrit N, Shoshany N, Zadok D, Avni I, Pras E.

Cornea. 2016 Dec;35(12):1605-1610. doi: 10.1097/ICO.0000000000001054.

PMID:
27755187
27.

Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology.

Achiron R, Katorza E, Reznik-Wolf H, Pras E, Kidron D, Berkenstadtt M.

Ultrasound Int Open. 2016 May;2(2):E54-7. doi: 10.1055/s-0036-1582303.

28.

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D.

Am J Hum Genet. 2016 Sep 1;99(3):777-784. doi: 10.1016/j.ajhg.2016.07.010. Erratum in: Am J Hum Genet. 2016 Nov 3;99(5):1222-1223.

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.

Fishing for Genes in Autoimmunity.

Regev M, Pras E.

Isr Med Assoc J. 2016 Mar-Apr;18(3-4):209-11.

31.

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M, Khermesh K, Barak M, Lin M, Lahat H, Reznik Wolf H, Lin M, Pras E, Levanon EY.

BMC Med Genomics. 2016 May 13;9(1):24. doi: 10.1186/s12920-016-0184-7.

32.

A role for TENM1 mutations in congenital general anosmia.

Alkelai A, Olender T, Haffner-Krausz R, Tsoory MM, Boyko V, Tatarskyy P, Gross-Isseroff R, Milgrom R, Shushan S, Blau I, Cohn E, Beeri R, Levy-Lahad E, Pras E, Lancet D.

Clin Genet. 2016 Sep;90(3):211-9. doi: 10.1111/cge.12782. Epub 2016 May 31.

PMID:
27040985
33.

The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

Laitman Y, Boker-Keinan L, Berkenstadt M, Liphsitz I, Weissglas-Volkov D, Ries-Levavi L, Sarouk I, Pras E, Friedman E.

Cancer Genet. 2016 Mar;209(3):70-4. doi: 10.1016/j.cancergen.2015.12.006. Epub 2015 Dec 22.

PMID:
26778106
34.

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B.

Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22.

PMID:
26542466
35.

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Pode-Shakked B, Marek-Yagel D, Greenberger S, Pode-Shakked N, Pras E, Barzilai A, Yassin S, Sidi Y, Anikster Y.

Eur J Med Genet. 2015 Dec;58(12):685-8. doi: 10.1016/j.ejmg.2015.10.012. Epub 2015 Oct 27.

PMID:
26518168
36.

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

Gilbar R, Shalev S, Spiegel R, Pras E, Berkenstadt M, Sagi M, Ben-Yehuda A, Mor P, Perry S, Zaccai TF, Borochowitz Z, Barnoy S.

J Genet Couns. 2016 Apr;25(2):314-24. doi: 10.1007/s10897-015-9873-1. Epub 2015 Sep 14.

PMID:
26371363
37.

The limited effect of information on Israeli pregnant women at advanced maternal age who decide to undergo amniocentesis.

Grinshpun-Cohen J, Miron-Shatz T, Berkenstet M, Pras E.

Isr J Health Policy Res. 2015 Aug 17;4:23. doi: 10.1186/s13584-015-0019-6. eCollection 2015.

38.

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
39.

A Priori Attitudes Predict Amniocentesis Uptake in Women of Advanced Maternal Age: A Pilot Study.

Grinshpun-Cohen J, Miron-Shatz T, Rhee-Morris L, Briscoe B, Pras E, Towner D.

J Health Commun. 2015;20(9):1107-13. doi: 10.1080/10810730.2015.1018632. Epub 2015 Jun 11.

PMID:
26065331
40.

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E.

J Med Genet. 2015 Jul;52(7):484-92. doi: 10.1136/jmedgenet-2015-103130. Epub 2015 May 18.

PMID:
25986072
41.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB.

Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15.

42.

FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.

Laitman Y, Ries-Levavi L, Berkensdadt M, Korach J, Perri T, Pras E, Friedman E.

Genet Res (Camb). 2014 Oct 8;96:e11. doi: 10.1017/S0016672314000147.

PMID:
25579682
43.

Prenatal diagnosis of Loeys-Dietz syndrome.

Gindes L, Berkenstadt M, Reznik-Wolf H, Pras E, Achiron R.

Ultraschall Med. 2014 Oct;35(5):391-4. English, German. No abstract available.

PMID:
25478638
44.

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.

Oz-Levi D, Weiss B, Lahad A, Greenberger S, Pode-Shakked B, Somech R, Olender T, Tatarsky P, Marek-Yagel D, Pras E, Anikster Y, Lancet D.

Clin Genet. 2015 Jun;87(6):602-3. doi: 10.1111/cge.12494. Epub 2014 Oct 21. No abstract available.

PMID:
25335910
45.

Prenatal diagnosis of Loeys-Dietz syndrome.

Gindes L, Berkenstadt M, Reznik-Wolf H, Pras E, Achiron R.

Ultraschall Med. 2014 Oct;35(5):391-4. English, German. No abstract available.

PMID:
25140493
46.

Radical surgery in patients with residual disease after (chemo)radiation for cervical cancer.

Boers A, Arts HJ, Klip H, Nijhuis ER, Pras E, Hollema H, Wisman GB, Nijman HW, Mourits MJ, Reyners AK, de Bock GH, Thomas G, van der Zee AG.

Int J Gynecol Cancer. 2014 Sep;24(7):1276-85. doi: 10.1097/IGC.0000000000000171.

PMID:
24987914
47.

Familial Mediterranean fever: genetic update.

Soriano A, Pras E.

Isr Med Assoc J. 2014 May;16(5):274-6. No abstract available.

48.

Factors that affect the decision to undergo amniocentesis in women with normal Down syndrome screening results: it is all about the age.

Grinshpun-Cohen J, Miron-Shatz T, Ries-Levavi L, Pras E.

Health Expect. 2015 Dec;18(6):2306-17. doi: 10.1111/hex.12200. Epub 2014 May 12.

49.

Collaboration in response to disaster--Typhoon Yolanda and an integrative model.

Merin O, Kreiss Y, Lin G, Pras E, Dagan D.

N Engl J Med. 2014 Mar 27;370(13):1183-4. doi: 10.1056/NEJMp1315960. Epub 2014 Feb 19. No abstract available.

PMID:
24552287
50.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E.

N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.

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