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Items: 1 to 20 of 111


Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L.

Hum Genet. 2016 Jul;135(7):813-26. doi: 10.1007/s00439-016-1676-4. Epub 2016 May 2.


C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

Atanasio A, Decman V, White D, Ramos M, Ikiz B, Lee HC, Siao CJ, Brydges S, LaRosa E, Bai Y, Fury W, Burfeind P, Zamfirova R, Warshaw G, Orengo J, Oyejide A, Fralish M, Auerbach W, Poueymirou W, Freudenberg J, Gong G, Zambrowicz B, Valenzuela D, Yancopoulos G, Murphy A, Thurston G, Lai KM.

Sci Rep. 2016 Mar 16;6:23204. doi: 10.1038/srep23204.


Role of N-cadherin in proliferation, migration, and invasion of germ cell tumours.

Bremmer F, Schallenberg S, Jarry H, Küffer S, Kaulfuss S, Burfeind P, Strauß A, Thelen P, Radzun HJ, Ströbel P, Honecker F, Behnes CL.

Oncotarget. 2015 Oct 20;6(32):33426-37. doi: 10.18632/oncotarget.5288.


Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma.

Rave-Fränk M, Tehrany N, Kitz J, Leu M, Weber HE, Burfeind P, Schliephake H, Canis M, Beissbarth T, Reichardt HM, Wolff HA.

Strahlenther Onkol. 2016 Jan;192(1):47-54. doi: 10.1007/s00066-015-0892-5. Epub 2015 Sep 15.


Leupaxin stimulates adhesion and migration of prostate cancer cells through modulation of the phosphorylation status of the actin-binding protein caldesmon.

Dierks S, von Hardenberg S, Schmidt T, Bremmer F, Burfeind P, Kaulfuß S.

Oncotarget. 2015 May 30;6(15):13591-606.


Leupaxin is expressed in mammary carcinoma and acts as a transcriptional activator of the estrogen receptor α.

Kaulfuss S, Herr AM, Büchner A, Hemmerlein B, Günthert AR, Burfeind P.

Int J Oncol. 2015 Jul;47(1):106-14. doi: 10.3892/ijo.2015.2988. Epub 2015 May 6.


High-grade acute organ toxicity and p16(INK4A) expression as positive prognostic factors in primary radio(chemo)therapy for patients with head and neck squamous cell carcinoma.

Tehrany N, Kitz J, Rave-Fränk M, Lorenzen S, Li L, Küffer S, Hess CF, Burfeind P, Reichardt HM, Canis M, Beissbarth T, Wolff HA.

Strahlenther Onkol. 2015 Jul;191(7):566-72. doi: 10.1007/s00066-014-0801-3. Epub 2015 Jan 10.


Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S.

Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014.


Increased microtubule assembly rates influence chromosomal instability in colorectal cancer cells.

Ertych N, Stolz A, Stenzinger A, Weichert W, Kaulfuß S, Burfeind P, Aigner A, Wordeman L, Bastians H.

Nat Cell Biol. 2014 Aug;16(8):779-91. doi: 10.1038/ncb2994. Epub 2014 Jun 29.


De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Schwaibold EM, Bartels I, Küster H, Lorenz M, Burfeind P, Adam R, Zoll B.

Mol Cytogenet. 2014 Jan 23;7(1):7. doi: 10.1186/1755-8166-7-7.


Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K.

Cytogenet Genome Res. 2014;142(1):1-6. doi: 10.1159/000355436. Epub 2013 Oct 11.


A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Schwaibold EM, Zoll B, Burfeind P, Hobbiebrunken E, Wilken B, Funke R, Shoukier M.

Am J Med Genet A. 2013 Oct;161A(10):2634-40. doi: 10.1002/ajmg.a.36129. Epub 2013 Aug 15. Review.


Blockade of the PDGFR family together with SRC leads to diminished proliferation of colorectal cancer cells.

Kaulfuß S, Seemann H, Kampe R, Meyer J, Dressel R, König B, Scharf JG, Burfeind P.

Oncotarget. 2013 Jul;4(7):1037-49.


Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2.

Witt D, Burfeind P, von Hardenberg S, Opitz L, Salinas-Riester G, Bremmer F, Schweyer S, Thelen P, Neesen J, Kaulfuss S.

Carcinogenesis. 2013 May;34(5):1115-24. doi: 10.1093/carcin/bgt019. Epub 2013 Jan 24.


N-cadherin expression in malignant germ cell tumours of the testis.

Bremmer F, Hemmerlein B, Strauss A, Burfeind P, Thelen P, Radzun HJ, Behnes CL.

BMC Clin Pathol. 2012 Oct 15;12:19. doi: 10.1186/1472-6890-12-19.


A family with an inverted tandem duplication 5q22.1q23.2.

Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M.

Cytogenet Genome Res. 2013;139(1):65-70. doi: 10.1159/000342914. Epub 2012 Oct 6.


Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):480-4. doi: 10.1016/j.ejmg.2012.05.004. Epub 2012 Jun 4.


Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Möschner M, Burfeind P, Manukjan G, Göhring G, Escherich G.

Am J Med Genet A. 2012 Mar;158A(3):652-8. doi: 10.1002/ajmg.a.34439. Epub 2012 Feb 7.


Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B.

Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21.


A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.

Shoukier M, Schröder J, Zoll B, Burfeind P, Freiberg C, Klinge L, Kriebel T, Lingen M, Mohr A, Brockmann K.

Am J Med Genet A. 2012 Feb;158A(2):429-33. doi: 10.1002/ajmg.a.34427. Epub 2012 Jan 13.

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