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Items: 1 to 50 of 52

1.

Atypical cerebral palsy: genomics analysis enables precision medicine.

Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study.

Genet Med. 2018 Dec 13. doi: 10.1038/s41436-018-0376-y. [Epub ahead of print]

PMID:
30542205
2.

Insights into the genomic landscape of MYD88 wild-type Waldenström macroglobulinemia.

Hunter ZR, Xu L, Tsakmaklis N, Demos MG, Kofides A, Jimenez C, Chan GG, Chen J, Liu X, Munshi M, Gustine J, Meid K, Patterson CJ, Yang G, Dubeau T, Samur MK, Castillo JJ, Anderson KC, Munshi NC, Treon SP.

Blood Adv. 2018 Nov 13;2(21):2937-2946. doi: 10.1182/bloodadvances.2018022962.

3.

TP53 mutations are associated with mutated MYD88 and CXCR4, and confer an adverse outcome in Waldenström macroglobulinaemia.

Gustine JN, Tsakmaklis N, Demos MG, Kofides A, Chen JG, Liu X, Munshi M, Guerrera ML, Chan GG, Patterson CJ, Meid K, Dubeau T, Yang G, Hunter ZR, Treon SP, Castillo JJ, Xu L.

Br J Haematol. 2019 Jan;184(2):242-245. doi: 10.1111/bjh.15560. Epub 2018 Sep 5.

PMID:
30183082
4.

Ibrutinib Monotherapy in Symptomatic, Treatment-Naïve Patients With Waldenström Macroglobulinemia.

Treon SP, Gustine J, Meid K, Yang G, Xu L, Liu X, Demos M, Kofides A, Tsakmaklis N, Chen JG, Munshi M, Chan G, Dubeau T, Raje N, Yee A, O'Donnell E, Hunter ZR, Castillo JJ.

J Clin Oncol. 2018 Sep 20;36(27):2755-2761. doi: 10.1200/JCO.2018.78.6426. Epub 2018 Jul 25.

PMID:
30044692
5.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM.

J Genet Couns. 2018 Jul 23. doi: 10.1007/s10897-018-0281-1. [Epub ahead of print]

PMID:
30033481
6.

Thrombotic and hemorrhagic complications during visceral transplantation: risk factors, and association with intraoperative disseminated intravascular coagulation-like thromboelastographic qualities: a single-center retrospective study.

Raveh Y, Rodriguez Y, Pretto E, Souki F, Shatz V, Ashrafi B, Manmohansigh V, Demos M, Livingstone J, Nasrallah G, Andrews D, Beduschi T, Vianna R, Nicolau-Raducu R.

Transpl Int. 2018 Oct;31(10):1125-1134. doi: 10.1111/tri.13281. Epub 2018 Jun 5.

PMID:
29786890
7.

Spotting the elusive Siberian tiger: Complete response to ibrutinib in a patient with Waldenström Macroglobulinemia.

Castillo JJ, Dubeau T, Kofides A, Demos MG, Tsakmaklis N, Xu L, Hunter ZR, Treon SP.

Am J Hematol. 2018 May 14. doi: 10.1002/ajh.25142. [Epub ahead of print] No abstract available.

PMID:
29756293
8.

MYD88 mutated and wild-type Waldenström's Macroglobulinemia: characterization of chromosome 6q gene losses and their mutual exclusivity with mutations in CXCR4.

Guerrera ML, Tsakmaklis N, Xu L, Yang G, Demos M, Kofides A, Chan GG, Manning RJ, Liu X, Chen JG, Munshi M, Patterson CJ, Castillo JJ, Dubeau T, Gustine J, Carrasco RD, Arcaini L, Varettoni M, Cazzola M, Treon SP, Hunter ZR.

Haematologica. 2018 Sep;103(9):e408-e411. doi: 10.3324/haematol.2018.190181. Epub 2018 Mar 29. No abstract available.

9.

BTKCys481Ser drives ibrutinib resistance via ERK1/2 and protects BTKwild-type MYD88-mutated cells by a paracrine mechanism.

Chen JG, Liu X, Munshi M, Xu L, Tsakmaklis N, Demos MG, Kofides A, Guerrera ML, Chan GG, Patterson CJ, Meid K, Gustine J, Dubeau T, Severns P, Castillo JJ, Hunter ZR, Wang J, Buhrlage SJ, Gray NS, Treon SP, Yang G.

Blood. 2018 May 3;131(18):2047-2059. doi: 10.1182/blood-2017-10-811752. Epub 2018 Mar 1.

PMID:
29496671
10.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

11.

MYD88 wild-type Waldenstrom Macroglobulinaemia: differential diagnosis, risk of histological transformation, and overall survival.

Treon SP, Gustine J, Xu L, Manning RJ, Tsakmaklis N, Demos M, Meid K, Guerrera ML, Munshi M, Chan G, Chen J, Kofides A, Patterson CJ, Yang G, Liu X, Severns P, Dubeau T, Hunter ZR, Castillo JJ.

Br J Haematol. 2018 Feb;180(3):374-380. doi: 10.1111/bjh.15049. Epub 2017 Nov 27.

PMID:
29181840
12.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.

Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.

PMID:
28811059
13.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study, Suri M, Elmslie F; Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.

Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.

14.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.

Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.

15.

Acquired mutations associated with ibrutinib resistance in Waldenström macroglobulinemia.

Xu L, Tsakmaklis N, Yang G, Chen JG, Liu X, Demos M, Kofides A, Patterson CJ, Meid K, Gustine J, Dubeau T, Palomba ML, Advani R, Castillo JJ, Furman RR, Hunter ZR, Treon SP.

Blood. 2017 May 4;129(18):2519-2525. doi: 10.1182/blood-2017-01-761726. Epub 2017 Feb 24.

16.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.

17.

Transesophageal echocardiography-guided thrombectomy of intracardiac renal cell carcinoma without cardiopulmonary bypass.

Souki FG, Demos M, Fermin L, Ciancio G.

Ann Card Anaesth. 2016 Oct-Dec;19(4):740-743. doi: 10.4103/0971-9784.191571.

18.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

19.

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD.

Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17.

PMID:
26647175
20.

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

Bitton JY, Demos M, Elkouby K, Connolly M, Weiss SK, Donner EJ, Whiting S, Ronen GM, Bello-Espinosa L, Wirrell EC, Mohamed IS, Dooley JM, Carmant L.

Epilepsia. 2015 Jun;56(6):856-63. doi: 10.1111/epi.12997. Epub 2015 May 5.

21.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.

Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.

22.

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF.

Orphanet J Rare Dis. 2014 Jun 25;9:94. doi: 10.1186/1750-1172-9-94.

23.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM; FORGE Canada Consortium.

Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15.

24.

Absent cavum with intact septum pellucidum and corpus callosum may indicate midline brain abnormalities.

Pugash D, Langlois S, Power P, Demos M.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):343-4. doi: 10.1002/uog.12402. No abstract available.

25.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF.

Eur J Hum Genet. 2013 Nov;21(11):1232-9. doi: 10.1038/ejhg.2013.20. Epub 2013 Feb 27.

26.

Recurrent furunculosis: a review of the literature.

Demos M, McLeod MP, Nouri K.

Br J Dermatol. 2012 Oct;167(4):725-32. doi: 10.1111/j.1365-2133.2012.11151.x. Review.

PMID:
22803835
27.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

28.

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.

Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.

PMID:
19842190
29.

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT.

Am J Med Genet A. 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851.

PMID:
19507262
30.

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.

Mov Disord. 2009 Apr 15;24(5):778-82. doi: 10.1002/mds.22467.

PMID:
19205071
31.

Beware these 7 charting pitfalls.

Demos MP.

Med Econ. 2006 Feb 3;83(3):49-50, 52-3. No abstract available.

PMID:
16506628
32.

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

Waters PJ, Khashu M, Lillquist Y, Senger C, Mattman A, Demos M, Setchell K, Rupar A, Scott P, Blau N, Vallance HD.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S148-52. Epub 2005 Sep 21.

PMID:
16182582
33.

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB.

Ann Neurol. 2005 Jul;58(1):164-7.

PMID:
15984017
34.

How your charts could jeopardize your license.

Demos MP.

Med Econ. 1994 Dec 12;71(23):95-6, 98, 100-2. No abstract available.

PMID:
10138872
35.

Workers' compensation course required.

Demos MP, Giffler RF, Forsyth NB.

J Fla Med Assoc. 1994 Oct;81(10):687-8. No abstract available.

PMID:
7798874
36.

How to avoid a DPR complaint.

Demos MP.

J Fla Med Assoc. 1992 Oct;79(10):711-5.

PMID:
1460454
37.

What every physician should know about the National Practitioner Data Bank.

Demos MP.

Arch Intern Med. 1991 Sep;151(9):1708-11. No abstract available.

PMID:
1888234
38.
39.

How presuit screening can help the uninsured Florida physician.

Ford TP Jr, Demos MP.

J Fla Med Assoc. 1990 Aug;77(8):765-6. No abstract available.

PMID:
2254744
42.

The ABCs of risk management for today's practicing physician.

Demos MP.

J Fla Med Assoc. 1990 Jan;77(1):35-9. No abstract available.

PMID:
2299325
43.

Avoiding the pitfalls of malpractice. Interview by Deborah Borfitz.

Demos M.

New Physician. 1987 Dec;36(9):31-5. No abstract available.

PMID:
10285527
44.

Exercise myoglobinemia and acute exertional rhabdomyolysis.

Demos MA, Gitin EL, Kagen LJ.

J R Nav Med Serv. 1975 Summer;61(2):97. No abstract available.

PMID:
1195183
45.

Exercise myoglobinemia and acute exertional rhabdomyolysis.

Demos MA, Gitin EL, Kagen LJ.

Arch Intern Med. 1974 Oct;134(4):669-73. No abstract available.

PMID:
4472107
46.

Acute exertional rhabdomyolysis.

Demos MA, Gitin EL.

Arch Intern Med. 1974 Feb;133(2):233-9. No abstract available.

PMID:
4812747
47.

Acute exertional rhabdomyolysis: a syndrome of increasing importance to the military physician.

Gitin EL, Demos MA.

Mil Med. 1974 Jan;139(1):33-6. No abstract available.

PMID:
4204919
48.

Military concern with myoglobinuria.

Gitin EL, Demos MA, Adams JF.

Ann Intern Med. 1972 Oct;77(4):659. No abstract available.

PMID:
4642750
49.

Plasma 5-hydroxytryptamine and plasma 5-hydroxy-indoleacetic acid levels after vagal stimulation.

Strauss RJ, Demos MA, Strauss RD, Stuckey JH.

J Surg Res. 1972 May;12(5):334-40. No abstract available.

PMID:
5027371
50.

Plasma serotonin levels during total cardiopulmonary bypass.

Demos MA, Strauss RJ, Schnipper LE, Stuckey JH.

J Thorac Cardiovasc Surg. 1970 Aug;60(2):257-63. No abstract available.

PMID:
5451070

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