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Items: 1 to 50 of 90

1.

Chimeric Antigen Receptor T-Cell Neurotoxicity Neuroimaging: More Than Meets the Eye.

Gust J, Ishak GE.

AJNR Am J Neuroradiol. 2019 Sep 5. doi: 10.3174/ajnr.A6184. [Epub ahead of print] No abstract available.

PMID:
31488503
2.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
3.

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM.

Am J Med Genet A. 2019 Sep;179(9):1783-1790. doi: 10.1002/ajmg.a.61281. Epub 2019 Jul 11.

PMID:
31294511
4.

The Small Bowel Cancer Incidence Enigma.

Assumpção P, Khayat A, Araújo T, Barra W, Ishak G, Cruz A, Santos S, Santos Â, Demachki S, Assumpção P, Calcagno D, Santos N, Assumpção M, Moreira F, Santos A, Assumpção C, Riggins G, Burbano R.

Pathol Oncol Res. 2019 Jun 5. doi: 10.1007/s12253-019-00682-5. [Epub ahead of print] Review.

PMID:
31165996
5.

Suicide journey of H. pylori through gastric carcinogenesis: the role of non-H. pylori microbiome and potential consequences for clinical practice.

de Assumpção PP, Araújo TMT, de Assumpção PB, Barra WF, Khayat AS, Assumpção CB, Ishak G, Nunes DN, Dias-Neto E, Coelho LGV.

Eur J Clin Microbiol Infect Dis. 2019 Sep;38(9):1591-1597. doi: 10.1007/s10096-019-03564-5. Epub 2019 Apr 17. Review.

PMID:
31114971
6.

Glial injury in neurotoxicity after pediatric CD19-directed chimeric antigen receptor T cell therapy.

Gust J, Finney OC, Li D, Brakke HM, Hicks RM, Futrell RB, Gamble DN, Rawlings-Rhea SD, Khalatbari HK, Ishak GE, Duncan VE, Hevner RF, Jensen MC, Park JR, Gardner RA.

Ann Neurol. 2019 Jul;86(1):42-54. doi: 10.1002/ana.25502. Epub 2019 May 27.

PMID:
31074527
7.

Seasonal variation in equine follicular fluid proteome.

Dutra GA, Ishak GM, Pechanova O, Pechan T, Peterson DG, Jacob JCF, Willard ST, Ryan PL, Gastal EL, Feugang JM.

Reprod Biol Endocrinol. 2019 Mar 6;17(1):29. doi: 10.1186/s12958-019-0473-z.

8.

Effect of cryopreservation techniques on proliferation and apoptosis of cultured equine ovarian tissue.

Gastal GDA, Aguiar FLN, Ishak GM, Cavinder CA, Willard ST, Ryan PL, Feugang JM, Gastal EL.

Theriogenology. 2019 Mar 1;126:88-94. doi: 10.1016/j.theriogenology.2018.11.034. Epub 2018 Dec 1.

PMID:
30543999
9.

Traps and trumps from adjacent-to-tumor samples in gastric cancer research.

de Assumpção PP, Khayat AS, Thomaz Araújo TM, Barra WF, Ishak G, Cruz Ramos AMP, Dos Santos SEB, Dos Santos ÂKCR, Demachki S, de Assumpção PB, Calcagno DQ, Dos Santos NPC, de Assumpção MB, Moreira FC, Dos Santos AMR, de Assumpção CB, Riggins GJ, Rodríguez Burbano RM.

Chin J Cancer Res. 2018 Oct;30(5):564-567. doi: 10.21147/j.issn.1000-9604.2018.05.10.

10.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.

11.

Establishment of normative values for the fetal posterior fossa by magnetic resonance imaging.

Chapman T, Menashe SJ, Zare M, Alessio AM, Ishak GE.

Prenat Diagn. 2018 Dec;38(13):1035-1041. doi: 10.1002/pd.5367. Epub 2018 Oct 28.

PMID:
30280395
12.

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.

D'Arco F, Alves CA, Raybaud C, Chong WKK, Ishak GE, Ramji S, Grima M, Barkovich AJ, Ganesan V.

AJNR Am J Neuroradiol. 2018 Nov;39(11):2126-2131. doi: 10.3174/ajnr.A5823. Epub 2018 Sep 27.

PMID:
30262641
13.

In vivo antral follicle wall biopsy: a new research technique to study ovarian function at the cellular and molecular levels.

Ishak GM, Bashir ST, Dutra GA, Gastal GDA, Gastal MO, Cavinder CA, Feugang JM, Gastal EL.

Reprod Biol Endocrinol. 2018 Jul 28;16(1):71. doi: 10.1186/s12958-018-0380-8.

14.

The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review.

Maloney E, Menashe SJ, Iyer RS, Ringold S, Chakraborty AK, Ishak GE.

Pediatr Radiol. 2018 Oct;48(11):1642-1654. doi: 10.1007/s00247-018-4177-x. Epub 2018 Jul 3. Review.

PMID:
29971479
15.

GEJ cancers: gastric or esophageal tumors? searching for the answer according to molecular identity.

Barra WF, Moreira FC, Pereira Cruz AM, Khayat AS, Calcagno DQ, Carneiro Dos Santos NP, Mascarenhas Junior RW, Thomaz Araújo TM, Ishak G, Demachki S, Rodríguez Burbano RM, Campos Ribeiro Dos Santos ÂK, Batista Dos Santos SE, Riggins GJ, Pimentel de Assumpção P.

Oncotarget. 2017 Oct 31;8(61):104286-104294. doi: 10.18632/oncotarget.22216. eCollection 2017 Nov 28.

16.

Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus.

Bayart CB, Ishak GE, Finn LS, Lee A, Baran F, Sun A, Gupta D, Vitanza NA.

Pediatr Blood Cancer. 2018 Mar;65(3). doi: 10.1002/pbc.26886. Epub 2017 Nov 24.

PMID:
29171168
17.

Pre-ovulatory follicle affects corpus luteum diameter, blood flow, and progesterone production in mares.

Ishak GM, Bashir ST, Gastal MO, Gastal EL.

Anim Reprod Sci. 2017 Dec;187:1-12. doi: 10.1016/j.anireprosci.2017.09.003. Epub 2017 Sep 8.

PMID:
29074033
18.

Effects of FSH addition to an enriched medium containing insulin and EGF after long-term culture on functionality of equine ovarian biopsy tissue.

Aguiar FLN, Gastal GDA, Ishak GM, Gastal MO, Teixeira DIA, Feugang JM, Figueiredo JR, Gastal EL.

Theriogenology. 2017 Sep 1;99:124-133. doi: 10.1016/j.theriogenology.2017.04.045. Epub 2017 Apr 28.

19.

Equine ovarian tissue viability after cryopreservation and in vitro culture.

Gastal GDA, Aguiar FLN, Alves BG, Alves KA, de Tarso SGS, Ishak GM, Cavinder CA, Feugang JM, Gastal EL.

Theriogenology. 2017 Jul 15;97:139-147. doi: 10.1016/j.theriogenology.2017.04.029. Epub 2017 Apr 23.

PMID:
28583597
20.

Primary choriocarcinoma of the bilateral basal ganglia presenting in a teenaged male.

Perry BC, Perez FA, Nixon JN, Cole BL, Ishak G.

Radiol Case Rep. 2017 Jan 17;12(1):154-158. doi: 10.1016/j.radcr.2016.12.002. eCollection 2017 Mar.

21.

The Emerging Role of miRNAs and Their Clinical Implication in Biliary Tract Cancer.

Ferreira Martins NN, da Silva Oliveira KC, Braga Bona A, de Arruda Cardoso Smith M, Ishak G, Assumpção PP, Burbano RR, Calcagno DQ.

Gastroenterol Res Pract. 2016;2016:9797410. doi: 10.1155/2016/9797410. Epub 2016 Dec 27. Review.

22.

Mind the gap: an unusual case of a cervical lipomyelocele.

Valeur NS, Iyer RS, Ishak GE.

Radiol Case Rep. 2016 May 26;11(3):266-70. doi: 10.1016/j.radcr.2016.04.008. eCollection 2016 Sep.

23.

Prenatal diagnosis of Chudley-McCullough syndrome.

Chapman T, Perez FA, Ishak GE, Doherty D.

Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17.

PMID:
27312216
24.

Intrahepatic mRNA Expression of FAS, FASL, and FOXP3 Genes Is Associated with the Pathophysiology of Chronic HCV Infection.

Amoras Eda S, Gomes ST, Freitas FB, Santana BB, Ishak G, Ferreira de Araújo MT, Demachki S, Conde SR, Ishak Mde O, Ishak R, Vallinoto AC.

PLoS One. 2016 May 31;11(5):e0156604. doi: 10.1371/journal.pone.0156604. eCollection 2016.

25.

CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).

El-Husny A, Raiol-Moraes M, Amador M, Ribeiro-Dos-Santos AM, Montagnini A, Barbosa S, Silva A, Assumpção P, Ishak G, Santos S, Pinto P, Cruz A, Ribeiro-Dos-Santos Â.

Genet Mol Biol. 2016 May 13;39(2):189-98. doi: 10.1590/1678-4685-GMB-2014-0342.

26.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB.

JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.

27.

Cervicothoracic cystic dysraphism.

Valeur NS, Iyer RS, Ishak GE.

Pediatr Radiol. 2016 Sep;46(10):1471-81. doi: 10.1007/s00247-016-3632-9. Epub 2016 May 5. Review.

PMID:
27147079
28.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D.

Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31.

29.

Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging.

Kelly JP, Ishak GE, Phillips JO, Nguyen H, Weiss AH.

J AAPOS. 2016 Feb;20(1):37-43. doi: 10.1016/j.jaapos.2015.10.016.

PMID:
26917070
30.

Changes in intrafollicular concentrations of free IGF-1, activin A, inhibin A, VEGF, estradiol, and prolactin before ovulation in mares.

Bashir ST, Ishak GM, Gastal MO, Roser JF, Gastal EL.

Theriogenology. 2016 May;85(8):1491-8. doi: 10.1016/j.theriogenology.2016.01.013. Epub 2016 Jan 18.

PMID:
26895618
31.

Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy.

Poliachik SL, Friedman SD, Poliakov AV, Budech CB, Ishak GE, Shaw DW, Gospe SM Jr.

Pediatr Neurol. 2016 Jan;54:43-8. doi: 10.1016/j.pediatrneurol.2015.09.012. Epub 2015 Sep 25.

PMID:
26547255
32.

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia.

Nixon JN, Dempsey JC, Doherty D, Ishak GE.

Neuroradiology. 2016 Feb;58(2):179-87. doi: 10.1007/s00234-015-1604-7. Epub 2015 Oct 12.

PMID:
26458891
33.

The adjacent to tumor sample trap.

de Assumpção PP, Dos Santos SE, Dos Santos ÂK, Demachki S, Khayat AS, Ishak G, Calcagno DQ, Dos Santos NP, de Assumpção CB, de Assumpção MB, Sortica VA, Araújo TM, Moreira FC, Dos Santos AM, Burbano RM.

Gastric Cancer. 2016 Jul;19(3):1024-5. doi: 10.1007/s10120-015-0539-3. Epub 2015 Sep 10. No abstract available.

PMID:
26359158
34.

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB.

J Child Neurol. 2016 Mar;31(3):309-20. doi: 10.1177/0883073815592222. Epub 2015 Jul 16.

35.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D.

Hum Mol Genet. 2015 Sep 15;24(18):5313-25. doi: 10.1093/hmg/ddv250. Epub 2015 Jun 30.

36.

KIAA0586 is Mutated in Joubert Syndrome.

Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M; University of Washington Center for Mendelian Genomics, Shendure J, Doherty D.

Hum Mutat. 2015 Sep;36(9):831-5. doi: 10.1002/humu.22821. Epub 2015 Jul 2.

37.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

38.

NGF and P75NTR gene expression is associated with the hepatic fibrosis stage due to viral and non-viral causes.

Amoras Eda S, Gomes ST, Freitas FB, Santana BB, Ishak G, de Araújo MT, Demachki S, da Silva Conde SR, de Oliveira Guimarães Ishak M, Ishak R, Vallinoto AC.

PLoS One. 2015 Mar 27;10(3):e0121754. doi: 10.1371/journal.pone.0121754. eCollection 2015.

39.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB.

Brain. 2015 Jun;138(Pt 6):1613-28. doi: 10.1093/brain/awv045. Epub 2015 Feb 25.

40.

Brachial plexus birth palsy: multimodality imaging of spine and shoulder abnormalities in children.

Menashe SJ, Tse R, Nixon JN, Ishak GE, Thapa MM, McBroom JA, Iyer RS.

AJR Am J Roentgenol. 2015 Feb;204(2):W199-206. doi: 10.2214/AJR.14.12862. Review.

PMID:
25615781
41.

Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 1, normal anatomy and classification of anomalies.

Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK.

Clin Imaging. 2015 Jan-Feb;39(1):1-8. doi: 10.1016/j.clinimag.2014.10.010. Epub 2014 Oct 23. Review.

PMID:
25457573
42.

Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Posterior fossa disorders.

Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK.

Clin Imaging. 2015 Mar-Apr;39(2):167-75. doi: 10.1016/j.clinimag.2014.10.012. Epub 2014 Oct 22. Review.

PMID:
25457569
43.

Medical management of invasive fungal infections of the central nervous system in pediatric cancer patients.

Carter JH, Lenahan JL, Ishak GE, Geyer JR, Pollard J, Englund JA.

Pediatr Blood Cancer. 2015 Jun;62(6):1095-8. doi: 10.1002/pbc.25331. Epub 2014 Nov 18.

44.

Deregulation of MYC and TP53 through genetic and epigenetic alterations in gallbladder carcinomas.

Ishak G, Leal MF, Dos Santos NP, Demachki S, Nunes CA, do Nascimento Borges B, Calcagno DQ, Smith MC, Assumpção PP, Burbano RR.

Clin Exp Med. 2015 Aug;15(3):421-6. doi: 10.1007/s10238-014-0311-8. Epub 2014 Sep 9.

PMID:
25200035
45.

Canavan disease - unusual imaging features in a child with mild clinical presentation.

Nguyen HV, Ishak GE.

Pediatr Radiol. 2015 Mar;45(3):457-60. doi: 10.1007/s00247-014-3116-8. Epub 2014 Aug 9.

PMID:
25107638
46.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D.

Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472.

47.

Callosal alterations in pyridoxine-dependent epilepsy.

Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DW, Willemsen MA, Bok LA, Gospe SM Jr.

Dev Med Child Neurol. 2014 Nov;56(11):1106-10. doi: 10.1111/dmcn.12511. Epub 2014 Jun 18.

48.

The diagnostic value of CT myelography, MR myelography, and both in neonatal brachial plexus palsy.

Tse R, Nixon JN, Iyer RS, Kuhlman-Wood KA, Ishak GE.

AJNR Am J Neuroradiol. 2014 Jul;35(7):1425-32. doi: 10.3174/ajnr.A3878. Epub 2014 Mar 27.

49.

T4b gastric carcinoma: 12 years of experience at an University Hospital.

Favacho BC, Costa Cda S, Magalhães TC, de Assumpção PP, Ishak G.

Arq Bras Cir Dig. 2013 Nov-Dec;26(4):268-73. English, Portuguese.

50.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ.

Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Erratum in: Am J Hum Genet. 2014 Feb 6;94(2):310.

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