Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 267

1.

Protein Phosphatase Magnesium Dependent 1A Governs the Wound Healing-Inflammation-Angiogenesis Cross Talk on Injury.

Dvashi Z, Jacobi-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 Sep 4. pii: S0002-9440(14)00440-4. doi: 10.1016/j.ajpath.2014.07.022. [Epub ahead of print]

PMID:
25196308
[PubMed - as supplied by publisher]
2.

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.

PMID:
25047061
[PubMed - in process]
Free Article
3.

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
[PubMed - in process]
4.

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.

PMID:
24552285
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
24367894
[PubMed - in process]
6.

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.

PMID:
24262094
[PubMed - in process]
Free PMC Article
7.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB.

Eur J Hum Genet. 2014 Jun;22(6):768-75. doi: 10.1038/ejhg.2013.232. Epub 2013 Oct 9.

PMID:
24105371
[PubMed - in process]
8.

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Hellman-Aharony S, Smirin-Yosef P, Halevy A, Pasmanik-Chor M, Yeheskel A, Har-Zahav A, Maya I, Straussberg R, Dahary D, Haviv A, Shohat M, Basel-Vanagaite L.

Pediatr Neurol. 2013 Dec;49(6):411-416.e1. doi: 10.1016/j.pediatrneurol.2013.07.017. Epub 2013 Sep 29.

PMID:
24084144
[PubMed - indexed for MEDLINE]
9.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G.

Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8.

PMID:
23932106
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G.

Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.

PMID:
23200864
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Referral patterns for microarray testing in prenatal diagnosis.

Shaffer LG, Dabell MP, Rosenfeld JA, Neill NJ, Ballif BC, Coppinger J, Diwan NR, Chong K, Shohat M, Chitayat D.

Prenat Diagn. 2012 Jun;32(6):611. doi: 10.1002/pd.3909. No abstract available.

PMID:
22622835
[PubMed - indexed for MEDLINE]
12.

Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.

Tomashov-Matar R, Biran G, Lagovsky I, Kotler N, Stein A, Fisch B, Sapir O, Shohat M.

J Assist Reprod Genet. 2012 Jul;29(7):687-92. doi: 10.1007/s10815-012-9765-3. Epub 2012 Apr 22.

PMID:
22527898
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Referral patterns for microarray testing in prenatal diagnosis.

Shaffer LG, Dabell MP, Rosenfeld JA, Neill NJ, Ballif BC, Coppinger J, Diwan NR, Chong K, Shohat M, Chitayat D.

Prenat Diagn. 2012 Apr;32(4):344-50. doi: 10.1002/pd.3856. Erratum in: Prenat Diagn. 2012 Jun;32(6):611.

PMID:
22467165
[PubMed - indexed for MEDLINE]
14.

Protein phosphatase magnesium dependent 1A (PPM1A) plays a role in the differentiation and survival processes of nerve cells.

Shohat M, Ben-Meir D, Lavi S.

PLoS One. 2012;7(2):e32438. doi: 10.1371/journal.pone.0032438. Epub 2012 Feb 27.

PMID:
22384250
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R.

Am J Hum Genet. 2012 Jan 13;90(1):49-60. doi: 10.1016/j.ajhg.2011.11.028. Epub 2012 Jan 5.

PMID:
22226083
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.

Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89.

PMID:
21917145
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L.

Clin Genet. 2012 Sep;82(3):271-6. doi: 10.1111/j.1399-0004.2011.01741.x. Epub 2011 Jul 18.

PMID:
21696384
[PubMed - indexed for MEDLINE]
18.

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

Kilim Y, Magal N, Shohat M.

Isr Med Assoc J. 2011 Apr;13(4):206-8.

PMID:
21598806
[PubMed - indexed for MEDLINE]
Free Article
19.

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.

Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, Baris HN, Shohat M, Frydman M, Pras E.

J Appl Genet. 2011 Nov;52(4):437-41. doi: 10.1007/s13353-011-0052-2. Epub 2011 May 17.

PMID:
21584729
[PubMed - indexed for MEDLINE]
20.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L.

J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14.

PMID:
21493957
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk