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Items: 1 to 50 of 168

1.

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes.

Exner ND, Valenzuela JAC, Abou-El-Ardat K, Miletic H, Huszthy PC, Radehaus PM, Schröck E, Bjerkvig R, Kaderali L, Klink B, Nigro JM.

Oncotarget. 2019 Jun 4;10(38):3641-3653. doi: 10.18632/oncotarget.26950. eCollection 2019 Jun 4.

2.

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L, William D, Hackmann K, Jahn W, Jahn A, Wagner J, Rump A, Bechmann N, Nölting S, Knösel T, Gudziol V, Constantinescu G, Masjkur J, Beuschlein F, Timmers HJ, Canu L, Pacak K, Robledo M, Aust D, Schröck E, Eisenhofer G, Richter S, Klink B.

Cancers (Basel). 2019 Jun 11;11(6). pii: E809. doi: 10.3390/cancers11060809.

3.

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.

Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B.

BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.

4.

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.

Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.

5.

Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.

Horak P, Weischenfeldt J, von Amsberg G, Beyer B, Schütte A, Uhrig S, Gieldon L, Klink B, Feuerbach L, Hübschmann D, Kreutzfeldt S, Heining C, Maier S, Hutter B, Penzel R, Schlesner M, Eils R, Sauter G, Stenzinger A, Brors B, Schröck E, Glimm H, Fröhling S, Schlomm T.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003657. doi: 10.1101/mcs.a003657. Print 2019 Apr.

6.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A.

Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18.

PMID:
30561130
7.

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.

Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P.

Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2.

PMID:
30506513
8.

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

Abdin D, Rump A, Tzschach A, Sarnow K, Schröck E, Hackmann K, Di Donato N.

Eur J Med Genet. 2018 Nov 23. pii: S1769-7212(18)30367-7. doi: 10.1016/j.ejmg.2018.11.021. [Epub ahead of print]

PMID:
30472487
9.

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N.

Nat Commun. 2018 Nov 19;9(1):4930. doi: 10.1038/s41467-018-07404-6.

10.

The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.

Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.

Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11.

PMID:
30426508
11.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N.

Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0. Erratum in: Nat Commun. 2018 Nov 19;9(1):4930.

12.

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A.

PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018.

13.

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.

Lenk J, Porrmann J, Smitka M, Eger I, Schröck E, Hackmann K, Herber R, Raiskup F, Tzschach A.

Ophthalmic Genet. 2018 Oct;39(5):645-647. doi: 10.1080/13816810.2018.1502792. Epub 2018 Jul 30.

PMID:
30058938
14.

NRG1 Fusions in KRAS Wild-Type Pancreatic Cancer.

Heining C, Horak P, Uhrig S, Codo PL, Klink B, Hutter B, Fröhlich M, Bonekamp D, Richter D, Steiger K, Penzel R, Endris V, Ehrenberg KR, Frank S, Kleinheinz K, Toprak UH, Schlesner M, Mandal R, Schulz L, Lambertz H, Fetscher S, Bitzer M, Malek NP, Horger M, Giese NA, Strobel O, Hackert T, Springfeld C, Feuerbach L, Bergmann F, Schröck E, von Kalle C, Weichert W, Scholl C, Ball CR, Stenzinger A, Brors B, Fröhling S, Glimm H.

Cancer Discov. 2018 Sep;8(9):1087-1095. doi: 10.1158/2159-8290.CD-18-0036. Epub 2018 May 25.

PMID:
29802158
15.

Novel truncating PPM1D mutation in a patient with intellectual disability.

Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L.

Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 May 11.

PMID:
29758292
16.

Whole exome sequencing identifies mTOR and KEAP1 as potential targets for radiosensitization of HNSCC cells refractory to EGFR and β1 integrin inhibition.

Klapproth E, Dickreuter E, Zakrzewski F, Seifert M, Petzold A, Dahl A, Schröck E, Klink B, Cordes N.

Oncotarget. 2018 Apr 6;9(26):18099-18114. doi: 10.18632/oncotarget.24266. eCollection 2018 Apr 6.

17.

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P, Mughal SS, Sanders MA, Hübschmann D, Chung I, Deeg KI, Wong SH, Rabe S, Hlevnjak M, Zapatka M, Ernst A, Kleinheinz K, Schlesner M, Sieverling L, Klink B, Schröck E, Hoogenboezem RM, Kasper B, Heilig CE, Egerer G, Wolf S, von Kalle C, Eils R, Stenzinger A, Weichert W, Glimm H, Gröschel S, Kopp HG, Omlor G, Lehner B, Bauer S, Schimmack S, Ulrich A, Mechtersheimer G, Rippe K, Brors B, Hutter B, Renner M, Hohenberger P, Scholl C, Fröhling S.

Nat Commun. 2018 Jan 10;9(1):144. doi: 10.1038/s41467-017-02602-0.

18.

Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells.

Conde M, Michen S, Wiedemuth R, Klink B, Schröck E, Schackert G, Temme A.

BMC Cancer. 2017 Dec 28;17(1):889. doi: 10.1186/s12885-017-3932-y.

19.

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.

Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust D, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schrock E, Robledo M, Klink B.

Eur J Endocrinol. 2018 Feb;178(2):K1-K9. doi: 10.1530/EJE-17-0714. Epub 2017 Nov 20.

PMID:
29158289
20.

The conjugated antimetabolite 5-FdU-ECyd and its cellular and molecular effects on platinum-sensitive vs. -resistant ovarian cancer cells in vitro.

Schott S, Wimberger P, Klink B, Grützmann K, Puppe J, Wauer US, Klotz DM, Schröck E, Kuhlmann JD.

Oncotarget. 2017 Aug 14;8(44):76935-76948. doi: 10.18632/oncotarget.20260. eCollection 2017 Sep 29.

21.

BRCA1/2 missense mutations and the value of in-silico analyses.

Sadowski CE, Kohlstedt D, Meisel C, Keller K, Becker K, Mackenroth L, Rump A, Schröck E, Wimberger P, Kast K.

Eur J Med Genet. 2017 Nov;60(11):572-577. doi: 10.1016/j.ejmg.2017.08.005. Epub 2017 Aug 12.

PMID:
28807866
22.

ATM Deficiency Generating Genomic Instability Sensitizes Pancreatic Ductal Adenocarcinoma Cells to Therapy-Induced DNA Damage.

Perkhofer L, Schmitt A, Romero Carrasco MC, Ihle M, Hampp S, Ruess DA, Hessmann E, Russell R, Lechel A, Azoitei N, Lin Q, Liebau S, Hohwieler M, Bohnenberger H, Lesina M, Algül H, Gieldon L, Schröck E, Gaedcke J, Wagner M, Wiesmüller L, Sipos B, Seufferlein T, Reinhardt HC, Frappart PO, Kleger A.

Cancer Res. 2017 Oct 15;77(20):5576-5590. doi: 10.1158/0008-5472.CAN-17-0634. Epub 2017 Aug 8.

23.

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A.

Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi: 10.1002/ajmg.a.38348. Epub 2017 Aug 4.

PMID:
28777483
24.

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A.

Am J Med Genet A. 2017 Oct;173(10):2736-2742. doi: 10.1002/ajmg.a.38359. Epub 2017 Jul 25.

PMID:
28742244
25.

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E.

Mol Diagn Ther. 2017 Oct;21(5):539-545. doi: 10.1007/s40291-017-0288-6.

PMID:
28620890
26.

Precision oncology based on omics data: The NCT Heidelberg experience.

Horak P, Klink B, Heining C, Gröschel S, Hutter B, Fröhlich M, Uhrig S, Hübschmann D, Schlesner M, Eils R, Richter D, Pfütze K, Geörg C, Meißburger B, Wolf S, Schulz A, Penzel R, Herpel E, Kirchner M, Lier A, Endris V, Singer S, Schirmacher P, Weichert W, Stenzinger A, Schlenk RF, Schröck E, Brors B, von Kalle C, Glimm H, Fröhling S.

Int J Cancer. 2017 Sep 1;141(5):877-886. doi: 10.1002/ijc.30828. Epub 2017 Jun 21.

27.

The contribution of homology arms to nuclease-assisted genome engineering.

Baker O, Tsurkan S, Fu J, Klink B, Rump A, Obst M, Kranz A, Schröck E, Anastassiadis K, Stewart AF.

Nucleic Acids Res. 2017 Jul 27;45(13):8105-8115. doi: 10.1093/nar/gkx497.

28.

Pierpont syndrome: report of a new patient.

Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.

Clin Dysmorphol. 2017 Oct;26(4):205-208. doi: 10.1097/MCD.0000000000000184.

PMID:
28562391
29.

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.

Concolino P, Rizza R, Hackmann K, Paris I, Minucci A, De Paolis E, Scambia G, Zuppi C, Schrock E, Capoluongo E.

Breast Cancer Res Treat. 2017 Jul;164(2):497-503. doi: 10.1007/s10549-017-4275-8. Epub 2017 May 9.

PMID:
28488140
30.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.

Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N.

Am J Med Genet A. 2017 May;173(5):1334-1341. doi: 10.1002/ajmg.a.38183. Epub 2017 Mar 31.

PMID:
28371302
31.

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Meisel C, Sadowski CE, Kohlstedt D, Keller K, Stäritz F, Grübling N, Becker K, Mackenroth L, Rump A, Schröck E, Arnold N, Wimberger P, Kast K.

Arch Gynecol Obstet. 2017 May;295(5):1227-1238. doi: 10.1007/s00404-017-4330-z. Epub 2017 Mar 21.

PMID:
28324225
32.

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas.

Abou-El-Ardat K, Seifert M, Becker K, Eisenreich S, Lehmann M, Hackmann K, Rump A, Meijer G, Carvalho B, Temme A, Schackert G, Schröck E, Krex D, Klink B.

Neuro Oncol. 2017 Apr 1;19(4):546-557. doi: 10.1093/neuonc/now231.

33.

Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.

Lahut S, Gispert S, Ömür Ö, Depboylu C, Seidel K, Domínguez-Bautista JA, Brehm N, Tireli H, Hackmann K, Pirkevi C, Leube B, Ries V, Reim K, Brose N, den Dunnen WF, Johnson M, Wolf Z, Schindewolf M, Schrempf W, Reetz K, Young P, Vadasz D, Frangakis AS, Schröck E, Steinmetz H, Jendrach M, Rüb U, Başak AN, Oertel W, Auburger G.

Dis Model Mech. 2017 May 1;10(5):619-631. doi: 10.1242/dmm.028035. Epub 2017 Jan 20.

34.

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.

Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.

PMID:
27581129
35.

Janus face-like effects of Aurora B inhibition: antitumoral mode of action versus induction of aneuploid progeny.

Wiedemuth R, Klink B, Fujiwara M, Schröck E, Tatsuka M, Schackert G, Temme A.

Carcinogenesis. 2016 Oct;37(10):993-1003. doi: 10.1093/carcin/bgw083. Epub 2016 Aug 11.

PMID:
27515963
36.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B.

PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016 Aug.

37.

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

Mackenroth L, Hackmann K, Klink B, Weber JS, Mayer B, Schröck E, Tzschach A.

Am J Med Genet A. 2016 Sep;170(9):2394-9. doi: 10.1002/ajmg.a.37785. Epub 2016 Jun 3.

PMID:
27255444
38.

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.

Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30.

PMID:
27240540
39.

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.

Pistorius S, Klink B, Pablik J, Rump A, Aust D, Garzarolli M, Schröck E, Schackert HK.

Hered Cancer Clin Pract. 2016 May 10;14:11. doi: 10.1186/s13053-016-0051-8. eCollection 2016.

40.

An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene.

Manoharan J, Lopez CL, Hackmann K, Albers MB, Pehl A, Kann PH, Slater EP, Schröck E, Bartsch DK.

Endocrinol Diabetes Metab Case Rep. 2016;2016:160011. doi: 10.1530/EDM-16-0011. Epub 2016 Mar 2.

41.

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Mackenroth L, Rump A, Lorenz P, Schröck E, Tzschach A.

Clin Dysmorphol. 2016 Jul;25(3):106-9. doi: 10.1097/MCD.0000000000000124. No abstract available.

PMID:
27057656
42.

An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells.

Peitzsch C, Cojoc M, Hein L, Kurth I, Mäbert K, Trautmann F, Klink B, Schröck E, Wirth MP, Krause M, Stakhovsky EA, Telegeev GD, Novotny V, Toma M, Muders M, Baretton GB, Frame FM, Maitland NJ, Baumann M, Dubrovska A.

Cancer Res. 2016 May 1;76(9):2637-51. doi: 10.1158/0008-5472.CAN-15-2116. Epub 2016 Mar 16.

43.

Directed evolution of a recombinase that excises the provirus of most HIV-1 primary isolates with high specificity.

Karpinski J, Hauber I, Chemnitz J, Schäfer C, Paszkowski-Rogacz M, Chakraborty D, Beschorner N, Hofmann-Sieber H, Lange UC, Grundhoff A, Hackmann K, Schrock E, Abi-Ghanem J, Pisabarro MT, Surendranath V, Schambach A, Lindner C, van Lunzen J, Hauber J, Buchholz F.

Nat Biotechnol. 2016 Apr;34(4):401-9. doi: 10.1038/nbt.3467. Epub 2016 Feb 22.

PMID:
26900663
44.

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A.

J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3.

PMID:
26843489
45.

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M.

Hum Mutat. 2016 Mar;37(3):242-5. doi: 10.1002/humu.22933. Epub 2015 Dec 15.

46.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.

PMID:
26358559
47.

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Mackenroth L, Hackmann K, Beyer A, Schallner J, Novotna B, Klink B, Schröck E, Di Donato N.

Am J Med Genet A. 2015 Nov;167A(11):2800-7. doi: 10.1002/ajmg.a.37266. Epub 2015 Sep 3.

PMID:
26334553
48.

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

Laugsch M, Rostovskaya M, Velychko S, Richter C, Zimmer A, Klink B, Schröck E, Haase M, Neumann K, Thieme S, Roesler J, Brenner S, Anastassiadis K.

Mol Ther. 2016 Apr;24(4):812-22. doi: 10.1038/mt.2015.154. Epub 2015 Aug 28.

49.

HBOC multi-gene panel testing: comparison of two sequencing centers.

Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A.

Breast Cancer Res Treat. 2015 Jul;152(1):129-136. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29.

PMID:
26022348
50.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Papuc SM, Hackmann K, Andrieux J, Vincent-Delorme C, Budişteanu M, Arghir A, Schrock E, Ţuţulan-Cuniţă AC, Di Donato N.

Eur J Med Genet. 2015 May;58(5):319-23. doi: 10.1016/j.ejmg.2015.03.005. Epub 2015 Apr 6.

PMID:
25858704

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