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Items: 28

1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2019 Oct 8. doi: 10.1002/humu.23929. [Epub ahead of print]

PMID:
31595648
2.

The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population.

Ebrahimi E, Sellars E, Shirkoohi R, Harirchi I, Ghiasvand R, Mohebbi E, Zendehdel K, Akbari MR.

Cancer Prev Res (Phila). 2019 Nov;12(11):763-770. doi: 10.1158/1940-6207.CAPR-19-0056. Epub 2019 Aug 26.

PMID:
31451522
3.

Iranome: A catalog of genomic variations in the Iranian population.

Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Sellars E, Nezhadi SH, Amini A, Arzhangi S, Jalalvand K, Jamali P, Mohammadi Z, Davarnia B, Nikuei P, Oladnabi M, Mohammadzadeh A, Zohrehvand E, Nejatizadeh A, Shekari M, Bagherzadeh M, Shamsi-Gooshki E, Börno S, Timmermann B, Haghdoost A, Najafipour R, Khorram Khorshid HR, Kahrizi K, Malekzadeh R, Akbari MR, Najmabadi H.

Hum Mutat. 2019 Nov;40(11):1968-1984. doi: 10.1002/humu.23880. Epub 2019 Aug 17.

PMID:
31343797
4.

The influence of evaluative right/wrong feedback on phonological and semantic processes in word learning.

Krishnan S, Sellars E, Wood H, Bishop DVM, Watkins KE.

R Soc Open Sci. 2018 Sep 5;5(9):171496. doi: 10.1098/rsos.171496. eCollection 2018 Sep.

5.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T.

J Hum Genet. 2018 Dec;63(12):1211-1222. doi: 10.1038/s10038-018-0515-y. Epub 2018 Sep 25.

6.

Mutations in Known and Novel cancer Susceptibility Genes in Young Patients with Pancreatic Cancer.

Alimirzaie S, Mohamadkhani A, Masoudi S, Sellars E, Boffetta P, Malekzadeh R, Akbari MR, Pourshams A.

Arch Iran Med. 2018 Jun 1;21(6):228-233.

7.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID:
29436146
8.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

9.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T.

Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Erratum in: Hum Mol Genet. 2018 Jun 15;27(12):2224.

10.

Phase II study of dose-attenuated bortezomib, cyclophosphamide and dexamethasone ("VCD-Lite") in very old or otherwise toxicity-vulnerable adults with newly diagnosed multiple myeloma.

Tuchman SA, Moore JO, DeCastro CD, Li Z, Sellars E, Kang Y, Long G, Gasparetto CG.

J Geriatr Oncol. 2017 May;8(3):165-169. doi: 10.1016/j.jgo.2017.02.004. Epub 2017 Feb 28.

PMID:
28256432
11.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.

Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.

12.

Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.

Sellars EA, Balmakund T, Bosanko K, Nichols BL, Kahler SG, Zarate YA.

Neuropediatrics. 2017 Apr;48(2):108-110. doi: 10.1055/s-0036-1593984. Epub 2016 Nov 22.

PMID:
27875839
13.

Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.

Sellars EA, Sullivan BR, Schaefer GB.

Clin Case Rep. 2016 Jun 10;4(7):696-8. doi: 10.1002/ccr3.598. eCollection 2016 Jul.

14.

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.

Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH.

Am J Med Genet A. 2016 Jul;170(7):1858-62. doi: 10.1002/ajmg.a.37664. Epub 2016 Apr 19.

PMID:
27090748
15.

Aortic dilation, genetic testing, and associated diagnoses.

Zarate YA, Sellars E, Lepard T, Tang X, Collins RT 2nd.

Genet Med. 2016 Apr;18(4):356-63. doi: 10.1038/gim.2015.88. Epub 2015 Jul 2.

PMID:
26133393
16.

Aortic dilation in pediatric patients.

Zarate YA, Sellars E, Lepard T, Carlo WF, Tang X, Collins RT 2nd.

Eur J Pediatr. 2015 Dec;174(12):1585-92. doi: 10.1007/s00431-015-2575-8. Epub 2015 Jun 13.

PMID:
26070999
17.

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A.

Am J Med Genet A. 2015 May;167A(5):1026-32. doi: 10.1002/ajmg.a.36849.

PMID:
25885067
18.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
19.

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.

Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB.

Semin Pediatr Neurol. 2014 Jun;21(2):84-7. doi: 10.1016/j.spen.2014.04.007. Epub 2014 Apr 13.

PMID:
25149931
20.

I am TNA.

Sellars EC.

Tenn Nurse. 2014 Summer;77(2):1-2. No abstract available.

PMID:
24964539
21.

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.

Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT 2nd.

Am J Med Genet A. 2014 Aug;164A(8):1998-2002. doi: 10.1002/ajmg.a.36601. Epub 2014 May 20. Review.

PMID:
24844942
22.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG.

Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

23.

Variable presentation between a mother and a fetus with Goltz syndrome.

Sellars EA, Wusik K, Weaver KN, Hopkin RJ.

Prenat Diagn. 2013 Dec;33(12):1211-3. doi: 10.1002/pd.4216. Epub 2013 Sep 12. No abstract available.

PMID:
23943565
24.

Severe cervical scoliosis in the fetus.

Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ.

Prenat Diagn. 2011 Dec;31(12):1198-202. doi: 10.1002/pd.2898. Epub 2011 Oct 26.

PMID:
22031186
25.

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ.

Am J Med Genet A. 2011 Jun;155A(6):1409-13. doi: 10.1002/ajmg.a.33997. Epub 2011 May 12.

PMID:
21567924
26.

Effects of chronic coffee consumption on glucose kinetics in the conscious rat.

Shearer J, Sellars EA, Farah A, Graham TE, Wasserman DH.

Can J Physiol Pharmacol. 2007 Aug;85(8):823-30.

PMID:
17901893
27.

The H19 differentially methylated region marks the parental origin of a heterologous locus without gametic DNA methylation.

Park KY, Sellars EA, Grinberg A, Huang SP, Pfeifer K.

Mol Cell Biol. 2004 May;24(9):3588-95.

28.

An evaluation of the azure A carbacrylic resin diagnostic test ("diagnex blue") for gastric acidity.

PARSONS RS, SELLARS EP.

Med J Aust. 1960 Jul 16;47(2):98-9. No abstract available.

PMID:
14430636

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