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Items: 1 to 20 of 161

1.

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.

Levin C, Koren A, Pretorius E, Rosenberg N, Shenkman B, Hauschner H, Zalman L, Khayat M, Salama I, Elpeleg O, Shalev S.

J Thromb Haemost. 2015 Jul;13(7):1285-92. doi: 10.1111/jth.12966. Epub 2015 May 25.

PMID:
25876182
2.

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

Shalev SA, Khayat M, Etty DS, Elpeleg O.

Am J Med Genet A. 2015 Mar;167A(3):607-11. doi: 10.1002/ajmg.a.36906.

PMID:
25691413
3.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J.

Clin Genet. 2015 Feb 16. doi: 10.1111/cge.12571. [Epub ahead of print]

PMID:
25683496
4.

Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10.

Samuelov L, Sarig O, Gat A, Halachmi S, Shalev S, Sprecher E.

Br J Dermatol. 2015 Jul;173(1):293-6. doi: 10.1111/bjd.13616. Epub 2015 May 24. No abstract available.

PMID:
25495838
5.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28.

PMID:
25270050
6.

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

Gal M, Levanon EY, Hujeirat Y, Khayat M, Pe'er J, Shalev S.

Am J Med Genet A. 2014 Dec;164A(12):2996-3002. doi: 10.1002/ajmg.a.36739. Epub 2014 Sep 22.

PMID:
25250762
7.

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

Straussberg R, Marom D, Sanado-Inbar E, Lakovsky Y, Horev G, Shalev SA, Lev D, Lerman-Sagie T, Leshinsky-Silver E.

J Child Neurol. 2015 Mar;30(4):490-5. doi: 10.1177/0883073814549241. Epub 2014 Sep 22.

PMID:
25246298
8.

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K.

JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814.

PMID:
25124931
9.

Thyroid hormone regulates adhesion, migration and matrix metalloproteinase 9 activity via αvβ3 integrin in myeloma cells.

Cohen K, Flint N, Shalev S, Erez D, Baharal T, Davis PJ, Hercbergs A, Ellis M, Ashur-Fabian O.

Oncotarget. 2014 Aug 15;5(15):6312-22.

10.

Marriage patterns and reproductive decision-making in the inhabitants of a single Muslim village during a 50-year period.

Zlotogora J, Shalev SA.

Hum Hered. 2014;77(1-4):10-5. doi: 10.1159/000357945. Epub 2014 Jul 29.

PMID:
25060265
11.

A long-term follow up of premarital counseling in the Israeli Arab population.

Zlotogora J, Shalev SA.

J Community Genet. 2014 Oct;5(4):377-81. doi: 10.1007/s12687-014-0192-2. Epub 2014 Jun 29.

12.

Conditioned mate-guarding behavior in the female rat.

Holley A, Shalev S, Bellevue S, Pfaus JG.

Physiol Behav. 2014 May 28;131:136-41. doi: 10.1016/j.physbeh.2014.04.034. Epub 2014 Apr 24.

PMID:
24768651
13.

Prevention of β Thalassemia in Northern Israel - a Cost-Benefit Analysis.

Koren A, Profeta L, Zalman L, Palmor H, Levin C, Zamir RB, Shalev S, Blondheim O.

Mediterr J Hematol Infect Dis. 2014 Feb 17;6(1):e2014012. doi: 10.4084/MJHID.2014.012. eCollection 2014.

14.

The beginning of metallurgy in the southern Levant: a late 6th millennium CalBC copper awl from Tel Tsaf, Israel.

Garfinkel Y, Klimscha F, Shalev S, Rosenberg D.

PLoS One. 2014 Mar 26;9(3):e92591. doi: 10.1371/journal.pone.0092591. eCollection 2014. Erratum in: PLoS One. 2014;9(4):e96882.

15.

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I.

Isr Med Assoc J. 2013 Dec;15(12):748-52.

16.

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V.

Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15.

17.

Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.

Young-Lin N, Shalev S, Glenn OA, Gardner M, Lee C, Wynshaw-Boris A, Gelfand AA.

Neurology. 2013 Dec 10;81(24):e182-3. doi: 10.1212/01.wnl.0000437291.75075.53.

18.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O.

Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.

19.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

20.

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA.

Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21.

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