Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 63

1.

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.

Deurloo MHS, Turlova E, Chen WL, Lin YW, Tam E, Tassew NG, Wu M, Huang YC, Crawley JN, Monnier PP, Groffen AJA, Sun HS, Osborne LR, Feng ZP.

Mol Neurobiol. 2019 May;56(5):3313-3325. doi: 10.1007/s12035-018-1290-7. Epub 2018 Aug 17.

2.

Spatial gene expression analysis of neuroanatomical differences in mouse models.

Fernandes DJ, Ellegood J, Askalan R, Blakely RD, Dicicco-Bloom E, Egan SE, Osborne LR, Powell CM, Raznahan A, Robins DM, Salter MW, Sengar AS, Veenstra-VanderWeele J, Henkelman RM, Lerch JP.

Neuroimage. 2017 Dec;163:220-230. doi: 10.1016/j.neuroimage.2017.08.065. Epub 2017 Sep 4.

3.

A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes.

Allalou A, Nalla A, Prentice KJ, Liu Y, Zhang M, Dai FF, Ning X, Osborne LR, Cox BJ, Gunderson EP, Wheeler MB.

Diabetes. 2016 Sep;65(9):2529-39. doi: 10.2337/db15-1720. Epub 2016 Jun 23.

4.

7q11.23 Duplication Syndrome.

Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2015 Nov 25.

5.

Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.

Khattak S, Brimble E, Zhang W, Zaslavsky K, Strong E, Ross PJ, Hendry J, Mital S, Salter MW, Osborne LR, Ellis J.

Mol Brain. 2015 Nov 24;8(1):77. doi: 10.1186/s13041-015-0168-0.

6.

Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I

Sinai L, Ivakine EA, Lam E, Deurloo M, Dida J, Zirngibl RA, Jung C, Aubin JE, Feng ZP, Yeomans J, McInnes RR, Osborne LR, Roder JC.

eNeuro. 2015 Mar 30;2(2). pii: ENEURO.0016-14.2015. doi: 10.1523/ENEURO.0016-14.2015. eCollection 2015 Mar-Apr.

7.

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR.

Am J Med Genet A. 2015 Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340. Epub 2015 Sep 3.

8.

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, De Carvalho D, Weksberg R, Osborne LR.

Am J Hum Genet. 2015 Aug 6;97(2):216-27. doi: 10.1016/j.ajhg.2015.05.019. Epub 2015 Jul 9.

9.

Children with 7q11.23 duplication syndrome: psychological characteristics.

Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR.

Am J Med Genet A. 2015 Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071. Epub 2015 Apr 21.

10.

3D visualization of the regional differences.

Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP.

Mol Psychiatry. 2015 Feb;20(1):1. doi: 10.1038/mp.2014.168. No abstract available.

11.

Lead immobilization and phosphorus availability in phosphate-amended, mine-contaminated soils.

Osborne LR, Baker LL, Strawn DG.

J Environ Qual. 2015 Jan;44(1):183-90. doi: 10.2134/jeq2014.07.0323.

PMID:
25602333
12.

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.

Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP.

Mol Psychiatry. 2015 Feb;20(1):118-25. doi: 10.1038/mp.2014.98. Epub 2014 Sep 9.

13.

First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.

Chen F, Guo R, Itoh S, Moreno L, Rosenthal E, Zappitelli T, Zirngibl RA, Flenniken A, Cole W, Grynpas M, Osborne LR, Vogel W, Adamson L, Rossant J, Aubin JE.

J Bone Miner Res. 2014 Jun;29(6):1412-23. doi: 10.1002/jbmr.2177.

14.

Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.

Anderson NM, Javadi M, Berndl E, Berberovic Z, Bailey ML, Huang K, Flenniken AM, Osborne LR, Adamson SL, Rossant J, Carter-Su C, Wang C, McNagny KM, Paulson RF, Minden MD, Stanford WL, Barber DL.

PLoS One. 2013 Sep 25;8(9):e75472. doi: 10.1371/journal.pone.0075472. eCollection 2013.

15.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA.

Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.

16.

Duplication of GTF2I results in separation anxiety in mice and humans.

Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR.

Am J Hum Genet. 2012 Jun 8;90(6):1064-70. doi: 10.1016/j.ajhg.2012.04.012. Epub 2012 May 10.

17.

A novel Phex mutation in a new mouse model of hypophosphatemic rickets.

Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE.

J Cell Biochem. 2012 Jul;113(7):2432-41. doi: 10.1002/jcb.24115.

PMID:
22573557
18.

Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screens.

Anderson NM, Berberovic Z, Berndl E, Bailey ML, Flenniken AM, Osborne LR, Adamson SL, Rossant J, Wang C, Minden MD, McNagny KM, Paulson RF, Barber DL, Stanford WL.

Exp Hematol. 2012 Jan;40(1):48-60. doi: 10.1016/j.exphem.2011.09.007. Epub 2011 Sep 14.

19.

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.

O'Leary J, Osborne LR.

PLoS One. 2011;6(8):e23868. doi: 10.1371/journal.pone.0023868. Epub 2011 Aug 31.

20.

West syndrome associated with 14q12 duplications harboring FOXG1.

Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F.

Neurology. 2011 May 3;76(18):1600-2. doi: 10.1212/WNL.0b013e3182194bbf. No abstract available.

PMID:
21536641
22.

The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.

Ochotny N, Flenniken AM, Owen C, Voronov I, Zirngibl RA, Osborne LR, Henderson JE, Adamson SL, Rossant J, Manolson MF, Aubin JE.

J Bone Miner Res. 2011 Jul;26(7):1484-93. doi: 10.1002/jbmr.355.

23.

A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.

Hughes MR, Anderson N, Maltby S, Wong J, Berberovic Z, Birkenmeier CS, Haddon DJ, Garcha K, Flenniken A, Osborne LR, Adamson SL, Rossant J, Peters LL, Minden MD, Paulson RF, Wang C, Barber DL, McNagny KM, Stanford WL.

Exp Hematol. 2011 Mar;39(3):305-20, 320.e1-2. doi: 10.1016/j.exphem.2010.12.009. Epub 2010 Dec 28. Erratum in: Exp Hematol. 2011 May 39(5):601.

24.

Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.

Proulx E, Young EJ, Osborne LR, Lambe EK.

J Neurodev Disord. 2010 Jun;2(2):99-108. Epub 2010 Mar 19.

25.

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, Osborne LR, Dzuria J, Gulanski B.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):291-8. doi: 10.1002/ajmg.c.30261.

26.

Animal models of Williams syndrome.

Osborne LR.

Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):209-19. doi: 10.1002/ajmg.c.30257. Review.

27.

Caveat mTOR: aberrant signaling disrupts corticogenesis.

Osborne LR.

J Clin Invest. 2010 May;120(5):1392-5. doi: 10.1172/JCI43030. Epub 2010 Apr 26.

28.

Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosis.

deLuca LE, Pikor NB, O'Leary J, Galicia-Rosas G, Ward LA, Defreitas D, Finlay TM, Ousman SS, Osborne LR, Gommerman JL.

J Immunol. 2010 Mar 15;184(6):3174-85. doi: 10.4049/jimmunol.0902881. Epub 2010 Feb 19.

29.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR.

Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.

30.

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR.

Am J Med Genet A. 2008 Jul 15;146A(14):1797-806. doi: 10.1002/ajmg.a.32360.

31.

Genomic rearrangements in the spotlight.

Osborne LR.

Nat Genet. 2008 Jan;40(1):6-7. No abstract available.

PMID:
18163126
32.

Bouncing back from elastin deficiency.

Ahmad PJ, Osborne LR, Bendeck MP.

Circ Res. 2007 Aug 31;101(5):439-40. No abstract available.

PMID:
17761933
33.

Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.

Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, Bechard AR, Chambers J, Mount HT, Fletcher PJ, Roder JC, Osborne LR.

Genes Brain Behav. 2008 Mar;7(2):224-34. Epub 2007 Aug 3.

34.

Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.

Davidson CE, Li Q, Churchill GA, Osborne LR, McDermid HE.

Physiol Genomics. 2007 Oct 22;31(2):244-51. Epub 2007 Jul 10.

PMID:
17623803
35.
36.

Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.

Xie G, Clapcote SJ, Nieman BJ, Tallerico T, Huang Y, Vukobradovic I, Cordes SP, Osborne LR, Rossant J, Sled JG, Henderson JT, Roder JC.

Genes Brain Behav. 2007 Nov;6(8):717-27. Epub 2007 Mar 21.

37.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K.

Am J Hum Genet. 2006 Nov;79(5):965-72. Epub 2006 Sep 27.

38.

Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.

Osborne LR, Joseph-George AM, Scherer SW.

Methods Mol Med. 2006;126:113-28.

PMID:
16930009
39.

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW.

Am J Med Genet A. 2006 Mar 1;140(5):509-14.

PMID:
16470794
40.

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR.

N Engl J Med. 2005 Oct 20;353(16):1694-701.

41.

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.

Flenniken AM, Osborne LR, Anderson N, Ciliberti N, Fleming C, Gittens JE, Gong XQ, Kelsey LB, Lounsbury C, Moreno L, Nieman BJ, Peterson K, Qu D, Roscoe W, Shao Q, Tong D, Veitch GI, Voronina I, Vukobradovic I, Wood GA, Zhu Y, Zirngibl RA, Aubin JE, Bai D, Bruneau BG, Grynpas M, Henderson JE, Henkelman RM, McKerlie C, Sled JG, Stanford WL, Laird DW, Kidder GM, Adamson SL, Rossant J.

Development. 2005 Oct;132(19):4375-86.

42.

Transgenic mouse overexpressing syntaxin-1A as a diabetes model.

Lam PP, Leung YM, Sheu L, Ellis J, Tsushima RG, Osborne LR, Gaisano HY.

Diabetes. 2005 Sep;54(9):2744-54.

43.

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.

Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR.

Hum Genet. 2005 Aug;117(4):383-8. Epub 2005 Jun 3.

44.

The Centre for Modeling Human Disease Gene Trap resource.

To C, Epp T, Reid T, Lan Q, Yu M, Li CY, Ohishi M, Hant P, Tsao N, Casallo G, Rossant J, Osborne LR, Stanford WL.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D557-9.

45.

Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.

Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, Nieves E, Cohen PE, Osborne LR, Wada T, Kunieda T, Moens PB, Penninger JM.

Science. 2003 May 23;300(5623):1291-5.

46.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

47.

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG.

Am J Med Genet. 2002 Apr 22;109(2):121-4.

48.

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW.

Nat Genet. 2001 Nov;29(3):321-5.

49.

'Forkhead' gene expression balanced on a knife-edge.

Osborne LR.

Trends Mol Med. 2001 Feb;7(2):51. No abstract available.

PMID:
11286739
50.

Polyglutamine stretches suppress transcription

Osborne LR.

Mol Med Today. 2000 Dec;6(12):457-8. No abstract available.

PMID:
11099946

Supplemental Content

Loading ...
Support Center