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Items: 1 to 50 of 64

1.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.

Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K.

Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr.

2.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

3.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.

Am J Med Genet A. 2018 Sep;176(9):1845-1851. doi: 10.1002/ajmg.a.40368. Epub 2018 Jul 28.

PMID:
30055086
4.

Auxin and ROP GTPase Signaling of Polar Nuclear Migration in Root Epidermal Hair Cells.

Nakamura M, Claes AR, Grebe T, Hermkes R, Viotti C, Ikeda Y, Grebe M.

Plant Physiol. 2018 Jan;176(1):378-391. doi: 10.1104/pp.17.00713. Epub 2017 Oct 30.

5.

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.

Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.

PMID:
28661489
6.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.

PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

7.

Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):563. doi: 10.1007/s10803-017-3047-y. No abstract available.

PMID:
28168676
8.

An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.

Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe TA.

Mol Genet Metab Rep. 2016 Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016.12.005. eCollection 2017 Mar.

9.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):549-562. doi: 10.1007/s10803-016-2961-8. Erratum in: J Autism Dev Disord. 2017 Mar;47(3):563.

10.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J.

Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Review.

11.

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

Appavu B, Guido-Estrada N, Lindstrom K, Grebe T, Kerrigan JF, Troester M.

Epileptic Disord. 2016 Sep 1;18(3):324-8. doi: 10.1684/epd.2016.0849.

12.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

13.

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

Narayanan M, Ramsey K, Grebe T, Schrauwen I, Szelinger S, Huentelman M, Craig D, Narayanan V; C4RCD Research Group.

F1000Res. 2015 Sep 28;4:912. doi: 10.12688/f1000research.7106.1. eCollection 2015.

14.

Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

Vegunta S, Cotugno R, Williamson A, Grebe TA.

Am J Med Genet A. 2015 Dec;167A(12):2998-3005. doi: 10.1002/ajmg.a.37337. Epub 2015 Aug 22.

PMID:
26297936
15.

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

Kulkarni N, Tang S, Bhardwaj R, Bernes S, Grebe TA.

J Child Neurol. 2016 Feb;31(2):211-4. doi: 10.1177/0883073815587945. Epub 2015 Jun 9.

PMID:
26060304
16.

Selective inhibitors of bacterial t-RNA-(N(1)G37) methyltransferase (TrmD) that demonstrate novel ordering of the lid domain.

Hill PJ, Abibi A, Albert R, Andrews B, Gagnon MM, Gao N, Grebe T, Hajec LI, Huang J, Livchak S, Lahiri SD, McKinney DC, Thresher J, Wang H, Olivier N, Buurman ET.

J Med Chem. 2013 Sep 26;56(18):7278-88. doi: 10.1021/jm400718n. Epub 2013 Sep 17.

PMID:
23981144
17.

Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children.

Pedersen A, Pettygrove S, Meaney FJ, Mancilla K, Gotschall K, Kessler DB, Grebe TA, Cunniff C.

Pediatrics. 2012 Mar;129(3):e629-35. doi: 10.1542/peds.2011-1145. Epub 2012 Feb 20.

PMID:
22351889
18.

Novel N-linked aminopiperidine inhibitors of bacterial topoisomerase type II: broad-spectrum antibacterial agents with reduced hERG activity.

Reck F, Alm R, Brassil P, Newman J, Dejonge B, Eyermann CJ, Breault G, Breen J, Comita-Prevoir J, Cronin M, Davis H, Ehmann D, Galullo V, Geng B, Grebe T, Morningstar M, Walker P, Hayter B, Fisher S.

J Med Chem. 2011 Nov 24;54(22):7834-47. doi: 10.1021/jm2008826. Epub 2011 Oct 27.

PMID:
21999508
19.

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W.

Cell. 2011 Sep 16;146(6):889-903. doi: 10.1016/j.cell.2011.07.042.

20.

Autism and increased paternal age related changes in global levels of gene expression regulation.

Alter MD, Kharkar R, Ramsey KE, Craig DW, Melmed RD, Grebe TA, Bay RC, Ober-Reynolds S, Kirwan J, Jones JJ, Turner JB, Hen R, Stephan DA.

PLoS One. 2011 Feb 17;6(2):e16715. doi: 10.1371/journal.pone.0016715.

21.

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T.

Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253.

22.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.

JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
23.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.

Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.

24.

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ.

Mol Genet Metab. 2008 Aug;94(4):485-90. doi: 10.1016/j.ymgme.2008.04.004. Epub 2008 May 20.

PMID:
18495510
25.

Celecoxib dilates guinea-pig coronaries and rat aortic rings and amplifies NO/cGMP signaling by PDE5 inhibition.

Klein T, Eltze M, Grebe T, Hatzelmann A, Kömhoff M.

Cardiovasc Res. 2007 Jul 15;75(2):390-7. Epub 2007 Feb 28.

PMID:
17383621
26.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.

Genet Med. 2006 Dec;8(12):784-92.

PMID:
17172942
27.

Montelukast exerts no acute direct effect on NO synthases.

Hamacher J, Eichert K, Braun C, Grebe T, Strub A, Lucas R, Eltze M, Wendel A.

Pulm Pharmacol Ther. 2007;20(5):525-33. Epub 2006 May 19.

PMID:
16815057
28.

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE.

Am J Med Genet A. 2005 Jan 30;132A(3):265-72.

PMID:
15690370
29.

(4R)-3-Allenyl-4-(diphenylmethyl)oxazolidin-2-one, an unsubstituted allenamide.

Tracey MR, Grebe TP, Brennessel WW, Hsung RP.

Acta Crystallogr C. 2004 Nov;60(Pt 11):o830-2. Epub 2004 Oct 22.

PMID:
15528834
30.

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.

31.

Organization of the receptor-kinase signaling array that regulates Escherichia coli chemotaxis.

Levit MN, Grebe TW, Stock JB.

J Biol Chem. 2002 Sep 27;277(39):36748-54. Epub 2002 Jul 15.

32.
33.

Affinity profile at alpha(1)- and alpha(2)-adrenoceptor subtypes and in vitro cardiovascular actions of (+)-boldine.

Eltze M, Grebe T, Michel MC, Czyborra P, Ullrich B.

Eur J Pharmacol. 2002 May 17;443(1-3):151-68.

PMID:
12044805
34.

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW.

Genomics. 2002 Feb;79(2):186-96.

PMID:
11829489
35.

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.

36.
37.
38.

Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.

He G, Yang BZ, Roe DS, Teramoto R, Aleck K, Grebe TA, Roe CR, Ding JH.

Biochem Biophys Res Commun. 1999 Oct 22;264(2):483-7.

PMID:
10529389
39.

The histidine protein kinase superfamily.

Grebe TW, Stock JB.

Adv Microb Physiol. 1999;41:139-227. Review.

PMID:
10500846
40.

Buspirone functionally discriminates tissues endowed with alpha1-adrenoceptor subtypes A, B, D and L.

Eltze M, König H, Ullrich B, Grebe T.

Eur J Pharmacol. 1999 Jul 28;378(1):69-83.

PMID:
10478567
41.

beta-lactam resistance in Streptococcus pneumoniae: penicillin-binding proteins and non-penicillin-binding proteins.

Hakenbeck R, Grebe T, Zähner D, Stock JB.

Mol Microbiol. 1999 Aug;33(4):673-8. Review.

42.

Bacterial chemotaxis: the five sensors of a bacterium.

Grebe TW, Stock J.

Curr Biol. 1998 Feb 26;8(5):R154-7. Review.

43.

[Meningitis caused by Streptococcus suis type 2 in an adult].

Grebe T, Bergenthal D, Fahr AM, Scheja HW.

Dtsch Med Wochenschr. 1997 Oct 10;122(41):1244-7. German.

PMID:
9378053
44.
45.

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S.

Am J Hum Genet. 1997 Aug;61(2):388-94.

46.

Contraction of guinea-pig gallbladder: muscarinic M3 or M4 receptors?

Eltze M, König H, Ullrich B, Grebe T.

Eur J Pharmacol. 1997 Jul 30;332(1):77-87.

PMID:
9298928
47.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Kang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schäffer A, Abbott M, Biesecker LG.

J Med Genet. 1997 Jun;34(6):441-6.

49.
50.

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Biesecker LG, Kang S, Schäffer AA, Abbott M, Kelley RI, Allen JC, Clericuzio C, Grebe T, Olney A, Graham JM Jr.

J Med Genet. 1996 Nov;33(11):947-51.

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