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Items: 1 to 50 of 58

1.

Repeat kidney transplant recipients with active rejection have elevated donor-derived cell-free DNA.

Mehta SG, Chang JH, Alhamad T, Bromberg JS, Hiller DJ, Grskovic M, Yee JP, Mannon RB.

Am J Transplant. 2018 Nov 23. doi: 10.1111/ajt.15192. [Epub ahead of print] No abstract available.

PMID:
30468563
2.

A study of relationship between perceived stress, coping pattern, burnout, and general psychopathology among the postgraduate medical students.

Guruprakash KV, Mehta SG, Atul B, Prakash J, Divinakumar KJ, Khan SA, Patra P.

Ind Psychiatry J. 2018 Jan-Jun;27(1):141-146. doi: 10.4103/ipj.ipj_20_18.

3.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
4.

Linear skin defects and microphthalmia.

Durack A, Mehta SG, Allen LE, Ozanic Bulic S, Burrows NP.

Clin Exp Dermatol. 2018 Oct;43(7):860-862. doi: 10.1111/ced.13638. Epub 2018 Jun 12. No abstract available.

PMID:
29896851
5.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES; DDD Study, Joss S.

Eur J Med Genet. 2019 Jan;62(1):27-34. doi: 10.1016/j.ejmg.2018.04.014. Epub 2018 Apr 23.

PMID:
29698805
6.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG.

J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24.

7.

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B.

Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.

8.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

9.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

10.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y.

Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.

11.

Detection of structural mosaicism from targeted and whole-genome sequencing data.

King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E, Homfray T, Mansour S, Mehta SG, Shehla M, Tomkins SE, Vasudevan PC, Hurles ME; Deciphering Developmental Disorders Study.

Genome Res. 2017 Oct;27(10):1704-1714. doi: 10.1101/gr.212373.116. Epub 2017 Aug 30.

12.

Lessons Learned: Early Termination of a Randomized Trial of Calcineurin Inhibitor and Corticosteroid Avoidance Using Belatacept.

Newell KA, Mehta AK, Larsen CP, Stock PG, Farris AB, Mehta SG, Ikle D, Armstrong B, Morrison Y, Bridges N, Robien M, Mannon RB.

Am J Transplant. 2017 Oct;17(10):2712-2719. doi: 10.1111/ajt.14377. Epub 2017 Jul 3.

13.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
14.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
15.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

16.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR, Mehta SG, Parker MJ, Goudie D, Fagotto-Kaufmann C, Mercer C; DDD Study, Debant A, Ennis S, Baralle D.

J Med Genet. 2016 Nov;53(11):735-742. doi: 10.1136/jmedgenet-2016-103942. Epub 2016 Jul 14.

17.

Laparoscopic Peptic Ulcer Perforation Closure: the Preferred Choice.

Shah FH, Mehta SG, Gandhi MD, Saraj.

Indian J Surg. 2015 Dec;77(Suppl 2):403-6. doi: 10.1007/s12262-013-0853-0. Epub 2013 Jan 31.

18.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T.

Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30.

19.

Center-Level Experience and Kidney Transplant Outcomes in HIV-Infected Recipients.

Locke JE, Reed RD, Mehta SG, Durand C, Mannon RB, MacLennan P, Shelton B, Martin MY, Qu H, Shewchuk R, Segev DL.

Am J Transplant. 2015 Aug;15(8):2096-104. doi: 10.1111/ajt.13220. Epub 2015 Mar 13.

20.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

21.

Pruritic porokeratotic peno-scrotal plaques: porokeratosis or porokeratotic epidermal reaction pattern? A report of 10 cases.

Joshi R, Mehta SG.

Indian J Dermatol Venereol Leprol. 2014 Jan-Feb;80(1):24-8. doi: 10.4103/0378-6323.125474.

22.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

23.

Immunosuppression regimen and the risk of acute rejection in HIV-infected kidney transplant recipients.

Locke JE, James NT, Mannon RB, Mehta SG, Pappas PG, Baddley JW, Desai NM, Montgomery RA, Segev DL.

Transplantation. 2014 Feb 27;97(4):446-50. doi: 10.1097/01.TP.0000436905.54640.8c.

PMID:
24162248
24.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM.

Biochim Biophys Acta. 2014 Jan;1842(1):56-64. doi: 10.1016/j.bbadis.2013.10.008. Epub 2013 Oct 24.

25.

Bilateral Malphigian bulge or pseudohernia simulating inguinal hernias in a case of spontaneous descent of bilateral undescended testis.

Patel RV, Govani D, Patel R, Mehta SG.

BMJ Case Rep. 2013 Sep 26;2013. pii: bcr2013200569. doi: 10.1136/bcr-2013-200569. No abstract available.

26.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.

Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20.

27.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J.

J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173.

PMID:
23188108
28.

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE.

Clin Genet. 2013 May;83(5):422-31. doi: 10.1111/cge.12000. Epub 2012 Oct 4.

29.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Banka S, Howard E, Bunstone S, Chandler KE, Kerr B, Lachlan K, McKee S, Mehta SG, Tavares AL, Tolmie J, Donnai D.

Clin Genet. 2013 May;83(5):467-71. doi: 10.1111/j.1399-0004.2012.01955.x. Epub 2012 Sep 18.

PMID:
22901312
30.

The spectrum of 4q- syndrome illustrated by a case series.

Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I, Huang T.

Gene. 2012 Sep 15;506(2):387-91. doi: 10.1016/j.gene.2012.06.087. Epub 2012 Jul 3.

PMID:
22771923
31.

Psychological benefits of yoga in industrial workers.

Bhat PS, Chopra V, Mehta SG, Srivastava K, Kumar SR, Prakash J.

Ind Psychiatry J. 2012 Jul;21(2):98-103. doi: 10.4103/0972-6748.119592.

32.

7q11.23 Microduplication: a recognizable phenotype.

Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A.

Clin Genet. 2013 Feb;83(2):155-61. doi: 10.1111/j.1399-0004.2012.01862.x. Epub 2012 Apr 8.

PMID:
22369319
33.

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.

Bateman MS, Mehta SG, Willatt L, Selkirk E, Bedwell C, Zwolinski S, Sparnon L, Simonic I, Abbott K, Barber JC.

Am J Med Genet A. 2010 Jul;152A(7):1764-9. doi: 10.1002/ajmg.a.33426.

PMID:
20583179
34.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK.

Eur J Hum Genet. 2010 Jun;18(6):648-55. doi: 10.1038/ejhg.2009.246. Epub 2010 Jan 27.

35.

Effect of recombinant factor VIIa as an adjunctive therapy in damage control for wartime vascular injuries: a case control study.

Fox CJ, Mehta SG, Cox ED, Kragh JF Jr, Salinas J, Holcomb JB.

J Trauma. 2009 Apr;66(4 Suppl):S112-9. doi: 10.1097/TA.0b013e31819ce240.

PMID:
19359954
36.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

37.

Damage control resuscitation for vascular surgery in a combat support hospital.

Fox CJ, Gillespie DL, Cox ED, Kragh JF Jr, Mehta SG, Salinas J, Holcomb JB.

J Trauma. 2008 Jul;65(1):1-9. doi: 10.1097/TA.0b013e318176c533.

PMID:
18580508
38.

Gallstone ileus.

Williams JB, Mehta SG, Vu T, Wonderlich DA, McDermott DM.

J Emerg Med. 2010 Jun;38(5):658-60. doi: 10.1016/j.jemermed.2007.11.063. Epub 2008 Jun 20. No abstract available.

PMID:
18571359
39.

The effectiveness of a damage control resuscitation strategy for vascular injury in a combat support hospital: results of a case control study.

Fox CJ, Gillespie DL, Cox ED, Mehta SG, Kragh JF Jr, Salinas J, Holcomb JB.

J Trauma. 2008 Feb;64(2 Suppl):S99-106; discussion S106-7. doi: 10.1097/TA.0b013e3181608c4a.

PMID:
18376180
40.

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD.

Am J Med Genet A. 2008 Mar 15;146A(6):745-57. doi: 10.1002/ajmg.a.31862.

41.

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE.

Clin Genet. 2007 Nov;72(5):420-6.

PMID:
17935506
42.

Cervical spine protection in a combat zone.

Mahoney PF, Steinbruner D, Mazur R, Dodson C, Mehta SG.

Injury. 2007 Oct;38(10):1220-2. Epub 2007 Sep 19. No abstract available.

PMID:
17884051
43.

Images in emergency medicine. Traumatic aortic transection.

Mehta SG, Meyermann M.

Ann Emerg Med. 2007 Apr;49(4):408, 419. No abstract available.

PMID:
17371706
44.

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

Spentchian M, Brun-Heath I, Taillandier A, Fauvert D, Serre JL, Simon-Bouy B, Carvalho F, Grochova I, Mehta SG, Müller G, Oberstein SL, Ogur G, Sharif S, Mornet E.

Genet Test. 2006 Winter;10(4):252-7.

PMID:
17253930
45.

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).

Mehta SG, Watts GD, Adamson JL, Hutton M, Umberger G, Xiong S, Ramdeen S, Lovell MA, Kimonis VE, Smith CD.

Genet Med. 2007 Jan;9(1):9-13.

PMID:
17224685
46.

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE.

Am J Med Genet A. 2006 Feb 15;140(4):322-30.

PMID:
16419137
47.

Informed consent and ethical issues in military medical research.

McManus J, Mehta SG, McClinton AR, De Lorenzo RA, Baskin TW.

Acad Emerg Med. 2005 Nov;12(11):1120-6.

48.

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE.

Hum Genet. 2005 Dec;118(3-4):508-14. Epub 2005 Oct 22.

PMID:
16244874
49.

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE.

Bone. 2006 Feb;38(2):280-5. Epub 2005 Sep 30.

PMID:
16199218
50.

Mutant valosin-containing protein causes a novel type of frontotemporal dementia.

Schröder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR.

Ann Neurol. 2005 Mar;57(3):457-61.

PMID:
15732117

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