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Items: 1 to 50 of 76

1.

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
2.

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice.

Roy A, Murphy RM, Deng M, MacDonald JW, Bammler TK, Aldinger KA, Glass IA, Millen KJ.

Elife. 2019 May 16;8. pii: e45961. doi: 10.7554/eLife.45961.

3.

Embryology.

Haldipur P, Dang D, Millen KJ.

Handb Clin Neurol. 2018;154:29-44. doi: 10.1016/B978-0-444-63956-1.00002-3. Review.

4.

Roof Plate-Derived Radial Glial-like Cells Support Developmental Growth of Rapidly Adapting Mechanoreceptor Ascending Axons.

Kridsada K, Niu J, Haldipur P, Wang Z, Ding L, Li JJ, Lindgren AG, Herrera E, Thomas GM, Chizhikov VV, Millen KJ, Luo W.

Cell Rep. 2018 Jun 5;23(10):2928-2941. doi: 10.1016/j.celrep.2018.05.025.

5.

What cerebellar malformations tell us about cerebellar development.

Haldipur P, Millen KJ.

Neurosci Lett. 2019 Jan 1;688:14-25. doi: 10.1016/j.neulet.2018.05.032. Epub 2018 May 23. Review.

PMID:
29802918
6.

ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.

Aruga J, Millen KJ.

Adv Exp Med Biol. 2018;1046:249-268. doi: 10.1007/978-981-10-7311-3_13. Review.

PMID:
29442326
7.

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ.

Elife. 2017 Jan 16;6. pii: e20898. doi: 10.7554/eLife.20898.

8.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN.

Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20.

9.

Active medulloblastoma enhancers reveal subgroup-specific cellular origins.

Lin CY, Erkek S, Tong Y, Yin L, Federation AJ, Zapatka M, Haldipur P, Kawauchi D, Risch T, Warnatz HJ, Worst BC, Ju B, Orr BA, Zeid R, Polaski DR, Segura-Wang M, Waszak SM, Jones DT, Kool M, Hovestadt V, Buchhalter I, Sieber L, Johann P, Chavez L, Gröschel S, Ryzhova M, Korshunov A, Chen W, Chizhikov VV, Millen KJ, Amstislavskiy V, Lehrach H, Yaspo ML, Eils R, Lichter P, Korbel JO, Pfister SM, Bradner JE, Northcott PA.

Nature. 2016 Feb 4;530(7588):57-62. doi: 10.1038/nature16546. Epub 2016 Jan 27.

10.

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.

Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ.

Elife. 2015 Dec 3;4. pii: e12703. doi: 10.7554/eLife.12703.

11.

Consensus Paper: Cerebellar Development.

Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Dusart I, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, Marino S, Martinez S, Millen KJ, Millner TO, Miyata T, Parmigiani E, Schilling K, Sekerková G, Sillitoe RV, Sotelo C, Uesaka N, Wefers A, Wingate RJ, Hawkes R.

Cerebellum. 2016 Dec;15(6):789-828. Review.

12.

Sensory and spinal inhibitory dorsal midline crossing is independent of Robo3.

Comer JD, Pan FC, Willet SG, Haldipur P, Millen KJ, Wright CV, Kaltschmidt JA.

Front Neural Circuits. 2015 Jul 23;9:36. doi: 10.3389/fncir.2015.00036. eCollection 2015.

13.

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.

14.

The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype.

Shih EK, Sekerková G, Ohtsuki G, Aldinger KA, Chizhikov VV, Hansel C, Mugnaini E, Millen KJ.

Cerebellum. 2015 Jun;14(3):292-307. doi: 10.1007/s12311-014-0640-x.

15.

Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth.

Haldipur P, Gillies GS, Janson OK, Chizhikov VV, Mithal DS, Miller RJ, Millen KJ.

Elife. 2014 Dec 16;3. doi: 10.7554/eLife.03962.

16.

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.

French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ.

J Clin Invest. 2014 Nov;124(11):4877-81. doi: 10.1172/JCI75109. Epub 2014 Sep 24.

17.

The role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes.

Chervenak AP, Bank LM, Thomsen N, Glanville-Jones HC, Jonathan S, Millen KJ, Arkell RM, Barald KF.

Dev Dyn. 2014 Nov;243(11):1487-98. doi: 10.1002/dvdy.24186. Epub 2014 Sep 16.

18.

Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function.

Millen KJ, Steshina EY, Iskusnykh IY, Chizhikov VV.

Proc Natl Acad Sci U S A. 2014 Apr 29;111(17):E1777-86. doi: 10.1073/pnas.1315024111. Epub 2014 Apr 14.

19.

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR.

Am J Med Genet A. 2014 Jun;164A(6):1503-11. doi: 10.1002/ajmg.a.36517. Epub 2014 Apr 3.

20.

Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome.

Haldipur P, Millen KJ.

Elife. 2013 Dec 24;2:e01873. doi: 10.7554/eLife.01873.

21.

Systemic glycerol decreases neonatal rabbit brain and cerebellar growth independent of intraventricular hemorrhage.

Traudt CM, McPherson RJ, Studholme C, Millen KJ, Juul SE.

Pediatr Res. 2014 Mar;75(3):389-94. doi: 10.1038/pr.2013.236. Epub 2013 Dec 17.

22.

A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.

Lehoczky JA, Thomas PE, Patrie KM, Owens KM, Villarreal LM, Galbraith K, Washburn J, Johnson CN, Gavino B, Borowsky AD, Millen KJ, Wakenight P, Law W, Van Keuren ML, Gavrilina G, Hughes ED, Saunders TL, Brihn L, Nadeau JH, Innis JW.

PLoS Genet. 2013;9(12):e1003967. doi: 10.1371/journal.pgen.1003967. Epub 2013 Dec 5.

23.

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.

PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.

24.

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG.

Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28.

25.

WDR81 is necessary for purkinje and photoreceptor cell survival.

Traka M, Millen KJ, Collins D, Elbaz B, Kidd GJ, Gomez CM, Popko B.

J Neurosci. 2013 Apr 17;33(16):6834-44. doi: 10.1523/JNEUROSCI.2394-12.2013.

26.

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.

Doherty D, Millen KJ, Barkovich AJ.

Lancet Neurol. 2013 Apr;12(4):381-93. doi: 10.1016/S1474-4422(13)70024-3. Epub 2013 Mar 18. Review.

27.

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2013 Jan;161A(1):131-6. doi: 10.1002/ajmg.a.35700. Epub 2012 Dec 7.

28.

Purkinje cell compartmentalization in the cerebellum of the spontaneous mutant mouse dreher.

Sillitoe RV, George-Jones NA, Millen KJ, Hawkes R.

Brain Struct Funct. 2014 Jan;219(1):35-47. doi: 10.1007/s00429-012-0482-6. Epub 2012 Nov 18.

29.

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.

30.

If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse.

Nieman BJ, Blank MC, Roman BB, Henkelman RM, Millen KJ.

Physiol Genomics. 2012 Oct 17;44(20):992-1002. doi: 10.1152/physiolgenomics.00093.2012. Epub 2012 Sep 4.

31.

The transcription factor encyclopedia.

Yusuf D, Butland SL, Swanson MI, Bolotin E, Ticoll A, Cheung WA, Zhang XY, Dickman CT, Fulton DL, Lim JS, Schnabl JM, Ramos OH, Vasseur-Cognet M, de Leeuw CN, Simpson EM, Ryffel GU, Lam EW, Kist R, Wilson MS, Marco-Ferreres R, Brosens JJ, Beccari LL, Bovolenta P, Benayoun BA, Monteiro LJ, Schwenen HD, Grontved L, Wederell E, Mandrup S, Veitia RA, Chakravarthy H, Hoodless PA, Mancarelli MM, Torbett BE, Banham AH, Reddy SP, Cullum RL, Liedtke M, Tschan MP, Vaz M, Rizzino A, Zannini M, Frietze S, Farnham PJ, Eijkelenboom A, Brown PJ, Laperrière D, Leprince D, de Cristofaro T, Prince KL, Putker M, del Peso L, Camenisch G, Wenger RH, Mikula M, Rozendaal M, Mader S, Ostrowski J, Rhodes SJ, Van Rechem C, Boulay G, Olechnowicz SW, Breslin MB, Lan MS, Nanan KK, Wegner M, Hou J, Mullen RD, Colvin SC, Noy PJ, Webb CF, Witek ME, Ferrell S, Daniel JM, Park J, Waldman SA, Peet DJ, Taggart M, Jayaraman PS, Karrich JJ, Blom B, Vesuna F, O'Geen H, Sun Y, Gronostajski RM, Woodcroft MW, Hough MR, Chen E, Europe-Finner GN, Karolczak-Bayatti M, Bailey J, Hankinson O, Raman V, LeBrun DP, Biswal S, Harvey CJ, DeBruyne JP, Hogenesch JB, Hevner RF, Héligon C, Luo XM, Blank MC, Millen KJ, Sharlin DS, Forrest D, Dahlman-Wright K, Zhao C, Mishima Y, Sinha S, Chakrabarti R, Portales-Casamar E, Sladek FM, Bradley PH, Wasserman WW.

Genome Biol. 2012;13(3):R24. doi: 10.1186/gb-2012-13-3-r24.

32.

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D.

Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26.

33.

Consensus paper: pathological role of the cerebellum in autism.

Fatemi SH, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ, Chauhan A, Chauhan V, Dager SR, Dickson PE, Estes AM, Goldowitz D, Heck DH, Kemper TL, King BH, Martin LA, Millen KJ, Mittleman G, Mosconi MW, Persico AM, Sweeney JA, Webb SJ, Welsh JP.

Cerebellum. 2012 Sep;11(3):777-807. doi: 10.1007/s12311-012-0355-9. Review.

34.

Wormless without wingless.

Doherty D, Millen KJ.

Nat Med. 2011 Jun;17(6):663-5. doi: 10.1038/nm0611-663. No abstract available.

PMID:
21647144
35.

Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis.

Blank MC, Grinberg I, Aryee E, Laliberte C, Chizhikov VV, Henkelman RM, Millen KJ.

Development. 2011 Mar;138(6):1207-16. doi: 10.1242/dev.054114. Epub 2011 Feb 9.

36.

Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele.

Swanson DJ, Steshina EY, Wakenight P, Aldinger KA, Goldowitz D, Millen KJ, Chizhikov VV.

Eur J Neurosci. 2010 Sep;32(5):707-16. doi: 10.1111/j.1460-9568.2010.07330.x. Epub 2010 Aug 16.

37.

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem.

Chizhikov VV, Lindgren AG, Mishima Y, Roberts RW, Aldinger KA, Miesegaes GR, Currle DS, Monuki ES, Millen KJ.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10725-30. doi: 10.1073/pnas.0910786107. Epub 2010 May 24.

38.

Novel approaches to studying the genetic basis of cerebellar development.

Sajan SA, Waimey KE, Millen KJ.

Cerebellum. 2010 Sep;9(3):272-83. doi: 10.1007/s12311-010-0169-6. Review.

39.

A developmental and genetic classification for midbrain-hindbrain malformations.

Barkovich AJ, Millen KJ, Dobyns WB.

Brain. 2009 Dec;132(Pt 12):3199-230. doi: 10.1093/brain/awp247. Review.

40.

Looking at cerebellar malformations through text-mined interactomes of mice and humans.

Iossifov I, Rodriguez-Esteban R, Mayzus I, Millen KJ, Rzhetsky A.

PLoS Comput Biol. 2009 Nov;5(11):e1000559. doi: 10.1371/journal.pcbi.1000559. Epub 2009 Nov 6.

41.

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.

Aldinger KA, Elsen GE, Prince VE, Millen KJ.

Semin Pediatr Neurol. 2009 Sep;16(3):155-63. doi: 10.1016/j.spen.2009.06.003. Review.

42.

Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth.

Mishima Y, Lindgren AG, Chizhikov VV, Johnson RL, Millen KJ.

J Neurosci. 2009 Sep 9;29(36):11377-84. doi: 10.1523/JNEUROSCI.0969-09.2009.

43.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ.

Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.

44.

Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear.

Koo SK, Hill JK, Hwang CH, Lin ZS, Millen KJ, Wu DK.

Dev Biol. 2009 Sep 1;333(1):14-25. doi: 10.1016/j.ydbio.2009.06.016. Epub 2009 Jun 18.

45.

Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies.

Aldinger KA, Sokoloff G, Rosenberg DM, Palmer AA, Millen KJ.

PLoS One. 2009;4(3):e4729. doi: 10.1371/journal.pone.0004729. Epub 2009 Mar 6.

46.

In ovo electroporations of HH stage 10 chicken embryos.

Blank MC, Chizhikov V, Millen KJ.

J Vis Exp. 2007;(9):408. doi: 10.3791/408. Epub 2007 Nov 1.

47.

Understanding cerebellar pattern formation.

Millen KJ.

J Vis Exp. 2007;(9):407. doi: 10.3791/407. Epub 2007 Nov 1. No abstract available.

48.

Lmx1a is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesis.

Nichols DH, Pauley S, Jahan I, Beisel KW, Millen KJ, Fritzsch B.

Cell Tissue Res. 2008 Dec;334(3):339-58. doi: 10.1007/s00441-008-0709-2. Epub 2008 Nov 5.

49.

Cerebellar development and disease.

Millen KJ, Gleeson JG.

Curr Opin Neurobiol. 2008 Feb;18(1):12-9. doi: 10.1016/j.conb.2008.05.010. Epub 2008 May 29. Review.

50.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG.

Hum Genet. 2008 Apr;123(3):237-45. doi: 10.1007/s00439-008-0467-y. Epub 2008 Jan 19.

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