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Items: 1 to 20 of 279

1.

A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.

Caine C, Shohat M, Kim JK, Nakanishi K, Homma S, Mosharov EV, Monani UR.

Hum Mol Genet. 2017 Nov 15;26(22):4406-4415. doi: 10.1093/hmg/ddx326.

PMID:
28973165
2.

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.

Maya I, Sharony R, Yacobson S, Kahana S, Yeshaya J, Tenne T, Agmon-Fishman I, Cohen-Vig L, Goldberg Y, Berger R, Basel-Salmon L, Shohat M.

Genet Med. 2018 Jan;20(1):128-131. doi: 10.1038/gim.2017.89. Epub 2017 Jul 20.

PMID:
28726807
3.

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

Cohen L, Orenstein N, Weisz-Hubshman M, Bazak L, Davidov B, Reinstein E, Tzur S, Behar D, Smirin-Yosef P, Salmon-Divon M, Gross A, Shohat M, Basel-Vanagaite L.

Harefuah. 2017 Apr;156(4):212-216. Hebrew.

PMID:
28551919
4.

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Reinstein E, Drasinover V, Lotan R, Gal-Tanamy M, Bolocan Nachman I, Eyal E, Jaber L, Magal N, Shohat M.

Clin Genet. 2018 Jan;93(1):160-163. doi: 10.1111/cge.13018. Epub 2017 Jul 26.

PMID:
28317099
5.

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH.

J Clin Invest. 2017 Apr 3;127(4):1475-1484. doi: 10.1172/JCI90193. Epub 2017 Mar 6.

6.

Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.

Maya I, Yacobson S, Kahana S, Yeshaya J, Tenne T, Agmon-Fishman I, Cohen-Vig L, Shohat M, Basel-Vanagaite L, Sharony R.

Ultrasound Obstet Gynecol. 2017 Sep;50(3):332-335. doi: 10.1002/uog.17421. Epub 2017 Jul 26.

PMID:
28133835
7.

Familial Mediterranean Fever.

Shohat M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Aug 8 [updated 2016 Dec 15].

8.

Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, Stein J.

Clin Genet. 2017 Jun;91(6):902-907. doi: 10.1111/cge.12916. Epub 2017 Mar 19.

PMID:
27808398
9.

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein E, Gutierrez-Fernandez A, Tzur S, Bormans C, Marcu S, Tayeb-Fligelman E, Vinkler C, Raas-Rothschild A, Irge D, Landau M, Shohat M, Puente XS, Behar DM, Lopez-Otın C.

Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7.

10.

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings.

Batzir NA, Shohat M, Maya I.

Pediatr Endocrinol Rev. 2015 Sep;13(1):448-54. Review.

PMID:
26540760
11.

Nonvisualization of the Fetal Gallbladder: Can Levels of Gamma-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis?

Bardin R, Ashwal E, Davidov B, Danon D, Shohat M, Meizner I.

Fetal Diagn Ther. 2016;39(1):50-5. doi: 10.1159/000430440. Epub 2015 Jun 3.

PMID:
26043788
12.

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM.

Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.

PMID:
25792360
13.

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.

Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak L, Bengal T, Cohen L, Gaton DD, Bormans C, Landau M, Kornowski R, Shohat M, Behar DM.

Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16.

PMID:
25645515
14.

Familial Dysautonomia.

Shohat M, Weisz Hubshman M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Jan 21 [updated 2014 Dec 18].

15.

Protein phosphatase magnesium dependent 1A governs the wound healing-inflammation-angiogenesis cross talk on injury.

Dvashi Z, Sar Shalom H, Shohat M, Ben-Meir D, Ferber S, Satchi-Fainaro R, Ashery-Padan R, Rosner M, Solomon AS, Lavi S.

Am J Pathol. 2014 Nov;184(11):2936-50. doi: 10.1016/j.ajpath.2014.07.022. Epub 2014 Sep 6.

PMID:
25196308
16.

Personalized prostate cancer screening among men with high risk genetic predisposition- study protocol for a prospective cohort study.

Margel D, Benjaminov O, Ozalvo R, Shavit Grievink L, Kedar I, Yerushalmi R, Ben-Aharon I, Neiman V, Yossepowitch O, Kedar D, Levy Z, Shohat M, Brenner B, Baniel J, Rosenbaum E.

BMC Cancer. 2014 Jul 21;14:528. doi: 10.1186/1471-2407-14-528.

17.

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

Maya I, Vinkler C, Konen O, Kornreich L, Steinberg T, Yeshaya J, Latarowski V, Shohat M, Lev D, Baris HN.

Am J Med Genet A. 2014 Aug;164A(8):1940-6. doi: 10.1002/ajmg.a.36583. Epub 2014 Apr 30.

PMID:
24788350
18.

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.

19.

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.

Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, Shohat M.

Genet Test Mol Biomarkers. 2014 Feb;18(2):123-6. doi: 10.1089/gtmb.2013.0328. Epub 2013 Dec 24.

20.

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.

Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G, Bormans C, Shohat M, Zeharia A.

J Lipid Res. 2014 Feb;55(2):307-12. doi: 10.1194/jlr.P041103. Epub 2013 Nov 21.

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