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Items: 14

1.

A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.

Wenger TL, Hopper RA, Rosen A, Tully HM, Cunningham ML, Lee A.

Genet Med. 2018 Jun 18. doi: 10.1038/s41436-018-0073-x. [Epub ahead of print]

PMID:
29915381
2.

Abstracts from Hydrocephalus 2016.

Adam A, Robison J, Lu J, Jose R, Badran N, Vivas-Buitrago T, Rigamonti D, Sattar A, Omoush O, Hammad M, Dawood M, Maghaslah M, Belcher T, Carson K, Hoffberger J, Jusué Torres I, Foley S, Yasar S, Thai QA, Wemmer J, Klinge P, Al-Mutawa L, Al-Ghamdi H, Carson KA, Asgari M, de Zélicourt D, Kurtcuoglu V, Garnotel S, Salmon S, Balédent O, Lokossou A, Page G, Balardy L, Czosnyka Z, Payoux P, Schmidt EA, Zitoun M, Sevestre MA, Alperin N, Baudracco I, Craven C, Matloob S, Thompson S, Haylock Vize P, Thorne L, Watkins LD, Toma AK, Bechter K, Pong AC, Jugé L, Bilston LE, Cheng S, Bradley W, Hakim F, Ramón JF, Cárdenas MF, Davidson JS, García C, González D, Bermúdez S, Useche N, Mejía JA, Mayorga P, Cruz F, Martinez C, Matiz MC, Vallejo M, Ghotme K, Soto HA, Riveros D, Buitrago A, Mora M, Murcia L, Bermudez S, Cohen D, Dasgupta D, Curtis C, Domínguez L, Remolina AJ, Grijalba MA, Whitehouse KJ, Edwards RJ, Eleftheriou A, Lundin F, Fountas KN, Kapsalaki EZ, Smisson HF, Robinson JS, Fritsch MJ, Arouk W, Garzon M, Kang M, Sandhu K, Baghawatti D, Aquilina K, James G, Thompson D, Gehlen M, Schmid Daners M, Eklund A, Malm J, Gomez D, Guerra M, Jara M, Flores M, Vío K, Moreno I, Rodríguez S, Ortega E, Rodríguez EM, McAllister JP, Guerra MM, Morales DM, Sival D, Jimenez A, Limbrick DD, Ishikawa M, Yamada S, Yamamoto K, Junkkari A, Häyrinen A, Rauramaa T, Sintonen H, Nerg O, Koivisto AM, Roine RP, Viinamäki H, Soininen H, Luikku A, Jääskeläinen JE, Leinonen V, Kehler U, Lilja-Lund O, Kockum K, Larsson EM, Riklund K, Söderström L, Hellström P, Laurell K, Kojoukhova M, Sutela A, Vanninen R, Vanha KI, Timonen M, Rummukainen J, Korhonen V, Helisalmi S, Solje E, Remes AM, Huovinen J, Paananen J, Hiltunen M, Kurki M, Martin B, Loth F, Luciano M, Luikku AJ, Hall A, Herukka SK, Mattila J, Lötjönen J, Alafuzoff I, Jurjević I, Miyajima M, Nakajima M, Murai H, Shin T, Kawaguchi D, Akiba C, Ogino I, Karagiozov K, Arai H, Reis RC, Teixeira MJ, Valêncio CG, da Vigua D, Almeida-Lopes L, Mancini MW, Pinto FCG, Maykot RH, Calia G, Tornai J, Silvestre SSS, Mendes G, Sousa V, Bezerra B, Dutra P, Modesto P, Oliveira MF, Petitto CE, Pulhorn H, Chandran A, McMahon C, Rao AS, Jumaly M, Solomon D, Moghekar A, Relkin N, Hamilton M, Katzen H, Williams M, Bach T, Zuspan S, Holubkov R, Rigamonti A, Clemens G, Sharkey P, Sanyal A, Sankey E, Rigamonti K, Naqvi S, Hung A, Schmidt E, Ory-Magne F, Gantet P, Guenego A, Januel AC, Tall P, Fabre N, Mahieu L, Cognard C, Gray L, Buttner-Ennever JA, Takagi K, Onouchi K, Thompson SD, Thorne LD, Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB, Moran D, Vakili S, Patel MA, Elder B, Goodwin CR, Crawford JA, Pletnikov MV, Xu J, Blitz A, Herzka DA, Guerrero-Cazares H, Quiñones-Hinojosa A, Mori S, Saavedra P, Treviño H, Maitani K, Ziai WC, Eslami V, Nekoovaght-Tak S, Dlugash R, Yenokyan G, McBee N, Hanley DF.

Fluids Barriers CNS. 2017 Jun 7;14(Suppl 1):15. doi: 10.1186/s12987-017-0054-5. No abstract available.

3.

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R.

Genet Med. 2018 Feb;20(2):223-233. doi: 10.1038/gim.2017.94. Epub 2017 Aug 3.

4.

Mortality in Joubert syndrome.

Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D.

Am J Med Genet A. 2017 May;173(5):1237-1242. doi: 10.1002/ajmg.a.38158. Epub 2017 Mar 28.

PMID:
28371402
5.
6.

Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.

Tully HM, Kukull WA, Mueller BA.

Pediatr Neurol. 2016 Jun;59:18-22. doi: 10.1016/j.pediatrneurol.2016.02.011. Epub 2016 Mar 3.

PMID:
27050777
7.

Prenatal presentation of pyruvate dehydrogenase complex deficiency.

Natarajan N, Tully HM, Chapman T.

Pediatr Radiol. 2016 Aug;46(9):1354-7. doi: 10.1007/s00247-016-3585-z. Epub 2016 Mar 30. Review.

PMID:
27026023
8.

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.

9.

Maternal and infant factors associated with infancy-onset hydrocephalus in Washington State.

Tully HM, Capote RT, Saltzman BS.

Pediatr Neurol. 2015 Mar;52(3):320-5. doi: 10.1016/j.pediatrneurol.2014.10.030. Epub 2014 Nov 10.

10.

Infantile hydrocephalus: a review of epidemiology, classification and causes.

Tully HM, Dobyns WB.

Eur J Med Genet. 2014 Aug;57(8):359-68. doi: 10.1016/j.ejmg.2014.06.002. Epub 2014 Jun 13. Review.

11.

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM Jr, Weiss A, Phillips JO, Doherty D.

Mov Disord. 2013 Dec;28(14):2019-23. doi: 10.1002/mds.25634. Epub 2013 Sep 18.

12.

Seizures in juvenile Huntington's disease: frequency and characterization in a multicenter cohort.

Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, Corey-Bloom J, Tully HM, Bird T, Panegyres PK, Nichter CA, Higgins DS Jr, Helmers SL, Factor SA, Jones R, Testa CM.

Mov Disord. 2012 Dec;27(14):1797-800. doi: 10.1002/mds.25237. Epub 2012 Nov 2.

PMID:
23124580
13.

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB.

Am J Med Genet A. 2012 Oct;158A(10):2393-406. doi: 10.1002/ajmg.a.35561. Epub 2012 Sep 10.

14.

Ligand substitution, pH dependent deoxygenation, and linkage isomerization reactions of the 2,2'-bipyridinetetranitroruthenate dianion.

Freedman DA, Janzen DE, Vreeland JL, Tully HM, Mann KR.

Inorg Chem. 2002 Jul 29;41(15):3820-9.

PMID:
12132905

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