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Items: 38

1.

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.

2.

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
3.

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.

4.

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
5.

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
6.

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
7.

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.

8.

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.

9.

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.

10.

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
11.

Correction: Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.

Ben-Shachar S, Ayalon I, Reznik-Wolf H, Tenenbaum-Rakover Y, Zuckerman-Levin N, Cohen O, Lifshitz A, Fraenkel M, Toledano Y, Rouach V, Koren I, Modan-Moses D, Hirsch D, Schachter-Davidov A, Israel S, Eyal O, Weintrob N.

Horm Metab Res. 2015 Jun;47(7):e6. doi: 10.1055/a-0594-0327. Epub 2018 Mar 22. No abstract available.

PMID:
29566405
12.

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
13.

Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.

Ben-Shachar S, Ayalon I, Reznik-Wolf H, Tenenbaum-Rakover Y, Zuckerman-Levin N, Cohen O, Lifshitz A, Fraenkel M, Toledano Y, Roash V, Koren I, Modan-Moses D, Hirsch D, Schachter-Davidov A, Israel S, Eyal O, Weintrob N.

Horm Metab Res. 2015 Jun;47(7):491-6. doi: 10.1055/s-0034-1389901. Epub 2014 Sep 17.

PMID:
25230321
14.

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
15.

Founder mutation for Huntington disease in Caucasus Jews.

Melamed O, Behar DM, Bram C, Magal N, Pras E, Reznik-Wolf H, Borochowitz ZU, Davidov B, Mor-Cohen R, Baris HN.

Clin Genet. 2015 Feb;87(2):167-72. doi: 10.1111/cge.12344. Epub 2014 Feb 4.

PMID:
24405192
16.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, D├ęcarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB.

Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013.

17.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D.

Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.

18.

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y.

Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24.

PMID:
22825317
19.

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Pras E, Pras E, Reznik-Wolf H, Sharon D, Raivech S, Barkana Y, Abu-Horowitz A, Ygal R, Banin E.

Mol Vis. 2012;18:1712-8. Epub 2012 Jun 23.

20.

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q.

Dekel-Naftali M, Aviram-Goldring A, Litmanovitch T, Shamash J, Reznik-Wolf H, Laevsky I, Amit M, Itskovitz-Eldor J, Yung Y, Hourvitz A, Schiff E, Rienstein S.

Eur J Hum Genet. 2012 Dec;20(12):1248-55. doi: 10.1038/ejhg.2012.128. Epub 2012 Jun 20.

21.

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E.

Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905.

PMID:
22367672
22.

Severe congenital lymphoedema not caused by mutations in known lymphoedema genes.

Greenberger S, Reznik-Wolf H, Ghalamkarpour A, Marek-Yagel D, Vikkula M, Pras E.

Br J Dermatol. 2010 Dec;163(6):1358-60. doi: 10.1111/j.1365-2133.2010.10012.x. Epub 2010 Nov 4. No abstract available.

PMID:
20804492
23.

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E.

Arthritis Care Res (Hoboken). 2010 Sep;62(9):1294-8. doi: 10.1002/acr.20213.

24.

Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.

Appel SA, Chapman J, Kahana E, Rosenmann H, Prohovnik I, Pras E, Reznik-Wolf H, Cohen OS.

Eur J Neurol. 2010 Jun 1;17(6):861-5. doi: 10.1111/j.1468-1331.2010.02948.x. Epub 2010 Jan 20.

25.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E.

Mol Vis. 2009 Aug 28;15:1709-16.

26.

Clinical disease among patients heterozygous for familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, Pras M, Pras E.

Arthritis Rheum. 2009 Jun;60(6):1862-6. doi: 10.1002/art.24570.

27.

A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.

Baris HN, Zlotogorski A, Peretz-Amit G, Doviner V, Shohat M, Reznik-Wolf H, Pras E.

Br J Dermatol. 2008 Dec;159(6):1373-6. doi: 10.1111/j.1365-2133.2008.08796.x. Epub 2008 Aug 19. No abstract available.

PMID:
18717672
28.

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E.

Am J Hum Genet. 2008 May;82(5):1217-22. doi: 10.1016/j.ajhg.2008.04.001. Epub 2008 May 1.

29.

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Reznik-Wolf H, Di Perna M, Pras E.

Hum Genet. 2007 Sep;122(2):215. No abstract available.

PMID:
18386386
30.

Familial pure proximal renal tubular acidosis--a clinical and genetic study.

Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A, Holtzman E.

Nephrol Dial Transplant. 2008 Apr;23(4):1211-5. Epub 2007 Sep 19.

PMID:
17881426
31.

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Lotan D, Yoskovitz G, Bisceglia L, Gerad L, Reznik-Wolf H, Pras E.

Isr Med Assoc J. 2007 Jul;9(7):513-6.

32.

Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia.

Nof E, Luria D, Brass D, Marek D, Lahat H, Reznik-Wolf H, Pras E, Dascal N, Eldar M, Glikson M.

Circulation. 2007 Jul 31;116(5):463-70. Epub 2007 Jul 23.

PMID:
17646576
33.

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

Abu A, Frydman M, Marek D, Pras E, Stolovitch C, Aviram-Goldring A, Rienstein S, Reznik-Wolf H, Pras E.

Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5283-7.

PMID:
17122114
34.

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.

J Invest Dermatol. 2006 Jun;126(6):1292-6.

35.

Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.

Peleg L, Pesso R, Goldman B, Dotan K, Omer M, Friedman E, Berkenstadt M, Reznik-Wolf H, Barkai G.

Isr Med Assoc J. 2002 Feb;4(2):95-7.

36.

Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

Reznik-Wolf H, Treves TA, Shabtai H, Aharon-Peretz J, Chapman J, Davidson M, Barkai G, Hyslop PH, Goldman B, Korczyn AD, Friedman E.

Eur J Hum Genet. 1998 Mar-Apr;6(2):176-80.

37.

Somatic mutation analysis of the APP and Presenilin 1 and 2 genes in Alzheimer's disease brains.

Reznik-Wolf H, Machado J, Haroutunian V, DeMarco L, Walter GF, Goldman B, Davidson M, Johnston JA, Lannfelt L, Dani SU, Friedman E.

J Neurogenet. 1998 Jan;12(1):55-65.

PMID:
9666901
38.

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.

Reznik-Wolf H, Treves TA, Davidson M, Aharon-Peretz J, St George Hyslop PH, Chapman J, Korczyn AD, Goldman B, Friedman E.

Hum Genet. 1996 Dec;98(6):700-2.

PMID:
8931704

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