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Items: 48

1.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

2.

miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome.

Wohlfarth C, Schmitteckert S, Härtle JD, Houghton LA, Dweep H, Fortea M, Assadi G, Braun A, Mederer T, Pöhner S, Becker PP, Fischer C, Granzow M, Mönnikes H, Mayer EA, Sayuk G, Boeckxstaens G, Wouters MM, Simrén M, Lindberg G, Ohlsson B, Schmidt PT, Dlugosz A, Agreus L, Andreasson A, D'Amato M, Burwinkel B, Bermejo JL, Röth R, Lasitschka F, Vicario M, Metzger M, Santos J, Rappold GA, Martinez C, Niesler B.

Sci Rep. 2017 Oct 31;7(1):14680. doi: 10.1038/s41598-017-13982-0.

3.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U.

Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30.

PMID:
28688840
4.

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U.

Am J Med Genet A. 2017 May 10. doi: 10.1002/ajmg.a.38252. [Epub ahead of print]

PMID:
28489334
5.

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells.

Hoffmann S, Schmitteckert S, Griesbeck A, Preiss H, Sumer S, Rolletschek A, Granzow M, Eckstein V, Niesler B, Rappold GA.

Stem Cell Res. 2017 May;21:51-57. doi: 10.1016/j.scr.2017.03.018. Epub 2017 Mar 29.

6.

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U.

Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29.

PMID:
28371085
7.

Novel recurrent chromosomal aberrations detected in clonal plasma cells of light chain amyloidosis patients show potential adverse prognostic effect: first results from a genome-wide copy number array analysis.

Granzow M, Hegenbart U, Hinderhofer K, Hose D, Seckinger A, Bochtler T, Hemminki K, Goldschmidt H, Schönland SO, Jauch A.

Haematologica. 2017 Jul;102(7):1281-1290. doi: 10.3324/haematol.2016.160721. Epub 2017 Mar 24.

8.

Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia.

Bochtler T, Granzow M, Stölzel F, Kunz C, Mohr B, Kartal-Kaess M, Hinderhofer K, Heilig CE, Kramer M, Thiede C, Endris V, Kirchner M, Stenzinger A, Benner A, Bornhäuser M, Ehninger G, Ho AD, Jauch A, Krämer A; Study Alliance Leukemia Investigators.

Blood. 2017 Mar 9;129(10):1333-1342. doi: 10.1182/blood-2016-09-738161. Epub 2017 Jan 24.

9.

miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea.

Martínez C, Rodiño-Janeiro BK, Lobo B, Stanifer ML, Klaus B, Granzow M, González-Castro AM, Salvo-Romero E, Alonso-Cotoner C, Pigrau M, Roeth R, Rappold G, Huber W, González-Silos R, Lorenzo J, de Torres I, Azpiroz F, Boulant S, Vicario M, Niesler B, Santos J.

Gut. 2017 Sep;66(9):1537-1538. doi: 10.1136/gutjnl-2016-311477. Epub 2017 Jan 12.

10.

Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan: a long-term follow-up study.

Bochtler T, Hegenbart U, Kunz C, Benner A, Kimmich C, Seckinger A, Hose D, Goldschmidt H, Granzow M, Dreger P, Ho AD, Jauch A, Schönland SO.

Blood. 2016 Jul 28;128(4):594-602. doi: 10.1182/blood-2015-10-676361. Epub 2016 Jun 2.

11.

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U.

Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26.

PMID:
27016154
12.

Concomitant gain of 1q21 and MYC translocation define a poor prognostic subgroup of hyperdiploid multiple myeloma.

Weinhold N, Kirn D, Seckinger A, Hielscher T, Granzow M, Bertsch U, Egerer G, Salwender H, Blau IW, Weisel K, Hillengass J, Raab MS, Hose D, Goldschmidt H, Jauch A.

Haematologica. 2016 Mar;101(3):e116-9. doi: 10.3324/haematol.2015.136929. Epub 2015 Nov 26. No abstract available.

13.

Statins activate the canonical hedgehog-signaling and aggravate non-cirrhotic portal hypertension, but inhibit the non-canonical hedgehog signaling and cirrhotic portal hypertension.

Uschner FE, Ranabhat G, Choi SS, Granzow M, Klein S, Schierwagen R, Raskopf E, Gautsch S, van der Ven PF, Fürst DO, Strassburg CP, Sauerbruch T, Diehl AM, Trebicka J.

Sci Rep. 2015 Sep 28;5:14573. doi: 10.1038/srep14573.

14.

Recurrent CDKN1B (p27) mutations in hairy cell leukemia.

Dietrich S, Hüllein J, Lee SC, Hutter B, Gonzalez D, Jayne S, Dyer MJ, Oleś M, Else M, Liu X, Słabicki M, Wu B, Troussard X, Dürig J, Andrulis M, Dearden C, von Kalle C, Granzow M, Jauch A, Fröhling S, Huber W, Meggendorfer M, Haferlach T, Ho AD, Richter D, Brors B, Glimm H, Matutes E, Abdel Wahab O, Zenz T.

Blood. 2015 Aug 20;126(8):1005-8. doi: 10.1182/blood-2015-04-643361. Epub 2015 Jun 11.

15.

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.

Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K, Schlesner M, Sturm M, Pinkert S, Eils R, Bartram CR, Bauer P, Moog U.

Mol Cell Probes. 2015 Oct;29(5):323-9. doi: 10.1016/j.mcp.2015.05.012. Epub 2015 Jun 4.

PMID:
26050939
16.

Glycodelin: A New Biomarker with Immunomodulatory Functions in Non-Small Cell Lung Cancer.

Schneider MA, Granzow M, Warth A, Schnabel PA, Thomas M, Herth FJ, Dienemann H, Muley T, Meister M.

Clin Cancer Res. 2015 Aug 1;21(15):3529-40. doi: 10.1158/1078-0432.CCR-14-2464. Epub 2015 Apr 21.

17.

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U.

Eur J Hum Genet. 2015 Dec;23(12):1627-33. doi: 10.1038/ejhg.2015.46. Epub 2015 Mar 25.

18.

Translocation t(11;14) is associated with adverse outcome in patients with newly diagnosed AL amyloidosis when treated with bortezomib-based regimens.

Bochtler T, Hegenbart U, Kunz C, Granzow M, Benner A, Seckinger A, Kimmich C, Goldschmidt H, Ho AD, Hose D, Jauch A, Schönland SO.

J Clin Oncol. 2015 Apr 20;33(12):1371-8. doi: 10.1200/JCO.2014.57.4947. Epub 2015 Mar 16.

PMID:
25779559
19.

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

Dikow N, Maas B, Karch S, Granzow M, Janssen JW, Jauch A, Hinderhofer K, Sutter C, Schubert-Bast S, Anderlid BM, Dallapiccola B, Van der Aa N, Moog U.

Am J Med Genet A. 2014 Dec;164A(12):3061-8. doi: 10.1002/ajmg.a.36761. Epub 2014 Sep 24.

PMID:
25256099
20.

Angiotensin-II type 1 receptor-mediated Janus kinase 2 activation induces liver fibrosis.

Granzow M, Schierwagen R, Klein S, Kowallick B, Huss S, Linhart M, Mazar IG, Görtzen J, Vogt A, Schildberg FA, Gonzalez-Carmona MA, Wojtalla A, Krämer B, Nattermann J, Siegmund SV, Werner N, Fürst DO, Laleman W, Knolle P, Shah VH, Sauerbruch T, Trebicka J.

Hepatology. 2014 Jul;60(1):334-48. doi: 10.1002/hep.27117. Epub 2014 May 6.

21.

Gain of chromosome 1q21 is an independent adverse prognostic factor in light chain amyloidosis patients treated with melphalan/dexamethasone.

Bochtler T, Hegenbart U, Kunz C, Benner A, Seckinger A, Dietrich S, Granzow M, Neben K, Goldschmidt H, Ho AD, Hose D, Jauch A, Schönland SO.

Amyloid. 2014 Mar;21(1):9-17. doi: 10.3109/13506129.2013.854766. Epub 2014 Jan 23.

PMID:
24455967
22.

Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del(17p), t(4;14), gain 1q, hyperdiploidy, and tumor load.

Neben K, Jauch A, Hielscher T, Hillengass J, Lehners N, Seckinger A, Granzow M, Raab MS, Ho AD, Goldschmidt H, Hose D.

J Clin Oncol. 2013 Dec 1;31(34):4325-32. doi: 10.1200/JCO.2012.48.4923. Epub 2013 Oct 21.

PMID:
24145347
23.

Serum markers of the extracellular matrix remodeling reflect antifibrotic therapy in bile-duct ligated rats.

Schierwagen R, Leeming DJ, Klein S, Granzow M, Nielsen MJ, Sauerbruch T, Krag A, Karsdal MA, Trebicka J.

Front Physiol. 2013 Jul 30;4:195. doi: 10.3389/fphys.2013.00195. eCollection 2013.

24.

Activation of the MAS receptor by angiotensin-(1-7) in the renin-angiotensin system mediates mesenteric vasodilatation in cirrhosis.

Grace JA, Klein S, Herath CB, Granzow M, Schierwagen R, Masing N, Walther T, Sauerbruch T, Burrell LM, Angus PW, Trebicka J.

Gastroenterology. 2013 Oct;145(4):874-884.e5. doi: 10.1053/j.gastro.2013.06.036. Epub 2013 Jun 22.

PMID:
23796456
25.

Mesenchymal stem cells in non-small cell lung cancer--different from others? Insights from comparative molecular and functional analyses.

Gottschling S, Granzow M, Kuner R, Jauch A, Herpel E, Xu EC, Muley T, Schnabel PA, Herth FJ, Meister M.

Lung Cancer. 2013 Apr;80(1):19-29. doi: 10.1016/j.lungcan.2012.12.015. Epub 2013 Jan 5.

PMID:
23294501
26.

Atorvastatin inhibits proliferation and apoptosis, but induces senescence in hepatic myofibroblasts and thereby attenuates hepatic fibrosis in rats.

Klein S, Klösel J, Schierwagen R, Körner C, Granzow M, Huss S, Mazar IG, Weber S, van den Ven PF, Pieper-Fürst U, Fürst DO, Nattermann J, Lammert F, Sauerbruch T, Trebicka J.

Lab Invest. 2012 Oct;92(10):1440-50. doi: 10.1038/labinvest.2012.106. Epub 2012 Aug 13.

27.

HSC-specific inhibition of Rho-kinase reduces portal pressure in cirrhotic rats without major systemic effects.

Klein S, Van Beuge MM, Granzow M, Beljaars L, Schierwagen R, Kilic S, Heidari I, Huss S, Sauerbruch T, Poelstra K, Trebicka J.

J Hepatol. 2012 Dec;57(6):1220-7. doi: 10.1016/j.jhep.2012.07.033. Epub 2012 Aug 6.

PMID:
22878469
28.

The endocannabinoid N-arachidonoyl dopamine (NADA) selectively induces oxidative stress-mediated cell death in hepatic stellate cells but not in hepatocytes.

Wojtalla A, Herweck F, Granzow M, Klein S, Trebicka J, Huss S, Lerner R, Lutz B, Schildberg FA, Knolle PA, Sauerbruch T, Singer MV, Zimmer A, Siegmund SV.

Am J Physiol Gastrointest Liver Physiol. 2012 Apr 15;302(8):G873-87. doi: 10.1152/ajpgi.00241.2011. Epub 2012 Feb 2.

29.

Establishment and comparative characterization of novel squamous cell non-small cell lung cancer cell lines and their corresponding tumor tissue.

Gottschling S, Jauch A, Kuner R, Herpel E, Mueller-Decker K, Schnabel PA, Xu EC, Muley T, Sültmann H, Bender C, Granzow M, Efferth T, Hoffmann H, Dienemann H, Herth FJ, Meister M.

Lung Cancer. 2012 Jan;75(1):45-57. doi: 10.1016/j.lungcan.2011.05.020.

PMID:
21684623
30.

Role of cannabinoid receptors in alcoholic hepatic injury: steatosis and fibrogenesis are increased in CB2 receptor-deficient mice and decreased in CB1 receptor knockouts.

Trebicka J, Racz I, Siegmund SV, Cara E, Granzow M, Schierwagen R, Klein S, Wojtalla A, Hennenberg M, Huss S, Fischer HP, Heller J, Zimmer A, Sauerbruch T.

Liver Int. 2011 Jul;31(6):860-70. doi: 10.1111/j.1478-3231.2011.02496.x. Epub 2011 Mar 8.

PMID:
21645218
31.

Hepatic and HSC-specific sorafenib effects in rats with established secondary biliary cirrhosis.

Hennenberg M, Trebicka J, Kohistani Z, Stark C, Nischalke HD, Krämer B, Körner C, Klein S, Granzow M, Fischer HP, Heller J, Sauerbruch T.

Lab Invest. 2011 Feb;91(2):241-51. doi: 10.1038/labinvest.2010.148. Epub 2010 Oct 4.

32.

The archaeal Lsm protein binds to small RNAs.

Fischer S, Benz J, Späth B, Maier LK, Straub J, Granzow M, Raabe M, Urlaub H, Hoffmann J, Brutschy B, Allers T, Soppa J, Marchfelder A.

J Biol Chem. 2010 Nov 5;285(45):34429-38. doi: 10.1074/jbc.M110.118950. Epub 2010 Sep 7.

33.

Atorvastatin attenuates hepatic fibrosis in rats after bile duct ligation via decreased turnover of hepatic stellate cells.

Trebicka J, Hennenberg M, Odenthal M, Shir K, Klein S, Granzow M, Vogt A, Dienes HP, Lammert F, Reichen J, Heller J, Sauerbruch T.

J Hepatol. 2010 Oct;53(4):702-12. doi: 10.1016/j.jhep.2010.04.025. Epub 2010 Jun 18.

PMID:
20633948
34.

Clinical periodontal and microbiologic parameters in patients with Crohn's disease with consideration of the CARD15 genotype.

Stein JM, Lammert F, Zimmer V, Granzow M, Reichert S, Schulz S, Ocklenburg C, Conrads G.

J Periodontol. 2010 Apr;81(4):535-45.

PMID:
20373538
35.

Role of beta3-adrenoceptors for intrahepatic resistance and portal hypertension in liver cirrhosis.

Trebicka J, Hennenberg M, Schulze Pröbsting A, Laleman W, Klein S, Granzow M, Nevens F, Zaagsma J, Heller J, Sauerbruch T.

Hepatology. 2009 Dec;50(6):1924-35. doi: 10.1002/hep.23222.

PMID:
19842096
36.

Small RNAs of the halophilic archaeon Haloferax volcanii.

Soppa J, Straub J, Brenneis M, Jellen-Ritter A, Heyer R, Fischer S, Granzow M, Voss B, Hess WR, Tjaden B, Marchfelder A.

Biochem Soc Trans. 2009 Feb;37(Pt 1):133-6. doi: 10.1042/BST0370133.

PMID:
19143617
37.

Correlation of EGFR mutations with chromosomal alterations and expression of EGFR, ErbB3 and VEGF in tumor samples of lung adenocarcinoma patients.

Reinmuth N, Jauch A, Xu EC, Muley T, Granzow M, Hoffmann H, Dienemann H, Herpel E, Schnabel PA, Herth FJ, Gottschling S, Lahm H, Steins M, Thomas M, Meister M.

Lung Cancer. 2008 Nov;62(2):193-201. doi: 10.1016/j.lungcan.2008.03.011. Epub 2008 May 1.

PMID:
18450321
38.

The RIN: an RNA integrity number for assigning integrity values to RNA measurements.

Schroeder A, Mueller O, Stocker S, Salowsky R, Leiber M, Gassmann M, Lightfoot S, Menzel W, Granzow M, Ragg T.

BMC Mol Biol. 2006 Jan 31;7:3.

39.

From latent disseminated cells to overt metastasis: genetic analysis of systemic breast cancer progression.

Schmidt-Kittler O, Ragg T, Daskalakis A, Granzow M, Ahr A, Blankenstein TJ, Kaufmann M, Diebold J, Arnholdt H, Muller P, Bischoff J, Harich D, Schlimok G, Riethmuller G, Eils R, Klein CA.

Proc Natl Acad Sci U S A. 2003 Jun 24;100(13):7737-42. Epub 2003 Jun 13.

40.

Informatics united: exemplary studies combining medical informatics, neuroinformatics and bioinformatics.

Wiemer J, Schubert F, Granzow M, Ragg T, Fieres J, Mattes J, Eils R.

Methods Inf Med. 2003;42(2):126-33.

PMID:
12743648
41.

Hodgkin's lymphoma cell lines are characterized by frequent aberrations on chromosomes 2p and 9p including REL and JAK2.

Joos S, Granzow M, Holtgreve-Grez H, Siebert R, Harder L, Martín-Subero JI, Wolf J, Adamowicz M, Barth TF, Lichter P, Jauch A.

Int J Cancer. 2003 Feb 10;103(4):489-95.

42.

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A.

Hum Genet. 2002 Jul;111(1):31-9. Epub 2002 Jun 13.

PMID:
12136233
43.

Isochromosome 1q as an early genetic event in a child with intracranial ependymoma characterized by molecular cytogenetics.

Granzow M, Popp S, Weber S, Schoell B, Holtgreve-Grez H, Senf L, Hager D, Boschert J, Scheurlen W, Jauch A.

Cancer Genet Cytogenet. 2001 Oct 1;130(1):79-83.

PMID:
11672779
44.

A database system for comparative genomic hybridization analysis.

Berrar D, Dubitzky W, Solinas-Toldo S, Bulashevska S, Granzow M, Conrad C, Kalla J, Lichter P, Eils R.

IEEE Eng Med Biol Mag. 2001 Jul-Aug;20(4):75-83. No abstract available.

PMID:
11494773
45.

Comparative genomic hybridization in childhood acute lymphoblastic leukemia: correlation with interphase cytogenetics and loss of heterozygosity analysis.

Scholz I, Popp S, Granzow M, Schoell B, Holtgreve-Grez H, Takeuchi S, Schrappe M, Harbott J, Teigler-Schlegel A, Zimmermann M, Fischer C, Koeffler HP, Bartram CR, Jauch A.

Cancer Genet Cytogenet. 2001 Jan 15;124(2):89-97.

PMID:
11172898
46.

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.

Granzow M, Popp S, Keller M, Holtgreve-Grez H, Brough M, Schoell B, Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch A.

Hum Genet. 2000 Jul;107(1):51-7.

PMID:
10982035
47.

Nuclear architecture and the induction of chromosomal aberrations.

Cremer C, Münkel C, Granzow M, Jauch A, Dietzel S, Eils R, Guan XY, Meltzer PS, Trent JM, Langowski J, Cremer T.

Mutat Res. 1996 Nov;366(2):97-116. Review.

PMID:
9001577
48.

Propagation of a K-body force into A-body space.

Granzow M, Harney HL, Kalka H.

Phys Rev C Nucl Phys. 1995 Jun;51(6):3026-3039. No abstract available.

PMID:
9970404

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