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Items: 1 to 20 of 176

1.

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.

Horovitz Y, Tanous O, Khayat M, Shaker M, Shalev S, Spiegel R.

Int J Rheum Dis. 2016 Jun 16. doi: 10.1111/1756-185X.12906. [Epub ahead of print]

PMID:
27310037
2.

Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects': reply from the authors.

Dodiuk-Gad RP, Cohen-Barak E, Khayat M, Milo H, Amariglio-Diskin L, Danial-Faran N, Sah M, Ziv M, Shani-Adir A, Amichai B, Zlotogorski A, Borochowitz Z, Rozenman D, Shalev S.

Br J Dermatol. 2016 Jun 7. doi: 10.1111/bjd.14544. [Epub ahead of print] No abstract available.

PMID:
27272550
3.

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.

Graham JM Jr, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, Wilson GN, Sagi-Dain L, Shalev SA.

Am J Med Genet A. 2016 May 6. doi: 10.1002/ajmg.a.37740. [Epub ahead of print]

PMID:
27151206
4.

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Spiegel R, Shaag A, Shalev S, Elpeleg O.

Neurogenetics. 2016 Jul;17(3):187-90. doi: 10.1007/s10048-016-0483-3. Epub 2016 Apr 28.

PMID:
27122014
5.

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS.

PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar.

6.

Expanding the Genotypic Spectrum of Perrault syndrome.

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG.

Clin Genet. 2016 Mar 11. doi: 10.1111/cge.12776. [Epub ahead of print]

PMID:
26970254
7.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J.

Am J Med Genet A. 2016 May;170(5):1216-24. doi: 10.1002/ajmg.a.37564. Epub 2016 Jan 20.

PMID:
26789649
8.

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.

Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA.

Clin Genet. 2016 May;89(5):603-7. doi: 10.1111/cge.12736. Epub 2016 Feb 10.

PMID:
26771056
9.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams SG, Bhaskar SS, Khayat M, Simanovsky N, Shachar IB, Shalev SA, Newman WG.

Clin Genet. 2016 Jun;89(6):724-7. doi: 10.1111/cge.12734. Epub 2016 Feb 3.

PMID:
26757254
10.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.

11.

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
12.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.

Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.

13.

Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.

Dodiuk-Gad RP, Cohen-Barak E, Khayat M, Milo H, Amariglio-Diskin L, Danial-Faran N, Sah M, Ziv M, Shani-Adir A, Amichai B, Zlotogorski A, Borochowitz Z, Rozenman D, Shalev S.

Br J Dermatol. 2016 Mar;174(3):562-8. doi: 10.1111/bjd.14220. Epub 2015 Dec 17.

PMID:
26471493
14.

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
15.

A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

Khayat M, Tilghman JM, Chervinsky I, Zalman L, Chakravarti A, Shalev SA.

Am J Med Genet A. 2016 Jan;170A(1):176-82. doi: 10.1002/ajmg.a.37375. Epub 2015 Sep 14.

PMID:
26364997
16.

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
17.

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
18.

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. 2016 Jan;89(1):27-33. doi: 10.1111/cge.12571. Epub 2015 Mar 9.

PMID:
25683496
19.

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
20.

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
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