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Results: 1 to 20 of 33

1.

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB.

Proc Natl Acad Sci U S A. 2014 Dec 23;111(51):18285-90. doi: 10.1073/pnas.1419581111. Epub 2014 Nov 24.

PMID:
25422467
2.

Zr-Y-Nb-REE mineralization associated with microgranite and basic dykes at EL Sela shear zone, South Eastern Desert, Egypt.

Shahin HA.

Springerplus. 2014 Oct 1;3:573. doi: 10.1186/2193-1801-3-573. eCollection 2014.

3.

Effect of erythropoietin and transfusion threshold on neurological recovery after traumatic brain injury: a randomized clinical trial.

Robertson CS, Hannay HJ, Yamal JM, Gopinath S, Goodman JC, Tilley BC; Epo Severe TBI Trial Investigators, Baldwin A, Rivera Lara L, Saucedo-Crespo H, Ahmed O, Sadasivan S, Ponce L, Cruz-Navarro J, Shahin H, Aisiku IP, Doshi P, Valadka A, Neipert L, Waguspack JM, Rubin ML, Benoit JS, Swank P.

JAMA. 2014 Jul 2;312(1):36-47. doi: 10.1001/jama.2014.6490.

4.

Factors affecting the outcome of related allogeneic hematopoietic cell transplantation in patients with Fanconi Anemia.

Ayas M, Siddiqui K, Al-Jefri A, El-Solh H, Al-Ahmari A, Khairy A, Markiz S, Shahin H, Al-Musa A, Al-Seraihy A.

Biol Blood Marrow Transplant. 2014 Oct;20(10):1599-603. doi: 10.1016/j.bbmt.2014.06.016. Epub 2014 Jun 21.

PMID:
24960628
5.

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS); PAARTNERS Study Group, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM.

Cell. 2013 Aug 1;154(3):518-29. doi: 10.1016/j.cell.2013.06.049.

6.

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Yariz KO, Duman D, Seco CZ, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M.

Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011.

7.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium, Triggs-Raine B, Zelinski T.

Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

8.

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.

9.

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.

Walsh VL, Raviv D, Dror AA, Shahin H, Walsh T, Kanaan MN, Avraham KB, King MC.

Mamm Genome. 2011 Apr;22(3-4):170-7. doi: 10.1007/s00335-010-9310-6. Epub 2010 Dec 17.

PMID:
21165622
10.

Influence of alcohol on early Glasgow Coma Scale in head-injured patients.

Shahin H, Gopinath SP, Robertson CS.

J Trauma. 2010 Nov;69(5):1176-81; discussion 1181. doi: 10.1097/TA.0b013e3181edbd47.

11.

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB.

Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17.

12.

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M.

Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.

13.

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T.

J Med Genet. 2010 Sep;47(9):643-5. doi: 10.1136/jmg.2009.075697. Epub 2010 May 14.

PMID:
20472657
14.

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M.

Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6.

15.

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.

Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB.

J Biol Chem. 2010 Jul 9;285(28):21724-35. doi: 10.1074/jbc.M110.120188. Epub 2010 May 4.

16.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.

Eur J Hum Genet. 2010 Apr;18(4):407-13. doi: 10.1038/ejhg.2009.190. Epub 2009 Nov 4.

18.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Walsh T, Abu Rayan A, Abu Sa'ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M.

Hum Genomics. 2006 Jan;2(4):203-11.

19.

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M.

Am J Hum Genet. 2006 Jan;78(1):144-52. Epub 2005 Nov 21.

20.

Monthly access flow monitoring with increased prophylactic angioplasty did not improve fistula patency.

Shahin H, Reddy G, Sharafuddin M, Katz D, Franzwa BS, Dixon BS.

Kidney Int. 2005 Nov;68(5):2352-61.

PMID:
16221240
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