Hackmann, Andreas : rechercher sur Z-Library

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1

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Groß, Eva, Gehrig, Andrea, Müller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie, Fra

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 131 KB

english, 2016

2

Next generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of Neurofibromatosis Type 1

Gieldon, Laura, Masjkur, Jimmy Rusdian, Richter, Susan, Därr, Roland, Lahera, Marcos, Aust, Daniela E, Zeugner, Silke, Rump, Andreas, Hackmann, Karl, Tzschach, Andreas, Januszewicz, Andrzej, Prejbisz,

Journal:

European Journal of Endocrinology

Année:

2017

Langue:

english

Fichier:

PDF, 690 KB

english, 2017

3

Extension of the Rorschach–Hazlewood Theoretical Model for Spin–Lattice Relaxation in Biological Systems to Low Frequencies

Andreas Hackmann, David C. Ailion, Krishnamurthy Ganesan, Gernot Laicher, K.Craig Goodrich, Antonio G. Cutillo

Journal:

Journal of Magnetic Resonance, Series B

Année:

1996

Langue:

english

Fichier:

PDF, 136 KB

english, 1996

4

Application to Rat Lung of the Extended Rorschach–Hazlewood Model of Spin–Lattice Relaxation

Andreas Hackmann, David C. Ailion, Krishnamurthy Ganesan, K.Craig Goodrich, Songhua Chen, Gernot Laicher, Antonio G. Cutillo

Journal:

Journal of Magnetic Resonance, Series B

Année:

1996

Langue:

english

Fichier:

PDF, 65 KB

english, 1996

5

The circular chromatic index

Andrea Hackmann, Arnfried Kemnitz

Journal:

Discrete Mathematics

Année:

2004

Langue:

english

Fichier:

PDF, 193 KB

english, 2004

6

Airway management using the pediatric GlideScope® in a child with Goldenhar syndrome and atypical plasma cholinesterase

ANDREW D. MILNE, ANDREA M. DOWER, THOMAS HACKMANN

Journal:

Pediatric Anesthesia

Année:

2007

Langue:

english

Fichier:

PDF, 489 KB

english, 2007

7

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

Hackmann, Karl, Stadler, Anja, Schallner, Jens, Franke, Kathlen, Gerlach, Eva-Maria, Schrock, Evelin, Rump, Andreas, Fauth, Christine, Tinschert, Sigrid, Oexle, Konrad

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 618 KB

english, 2013

8

NMR investigation of defect properties in single crystal SrTiO 3

Hackmann, Andreas, Kanert, Otmar

Journal:

Radiation Effects and Defects in Solids

Année:

1991

Langue:

english

Fichier:

PDF, 205 KB

english, 1991

9

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 469 KB

english, 2013

10

Chromosome aberration associated with hippocampal impairment

Haussmann, Robert, Meissner, Gisa, Linn, Jennifer, Hackmann, Karl, Betcheva-Krajcir, Elitza, Tzschach, Andreas, Donix, Markus

Journal:

Psychiatry Research: Neuroimaging

Année:

2016

Langue:

english

Fichier:

PDF, 581 KB

english, 2016

11

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

Mackenroth, Luisa, Hackmann, Karl, Klink, Barbara, Weber, Julia Sara, Mayer, Brigitte, Schröck, Evelin, Tzschach, Andreas

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 701 KB

english, 2016

12

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

Hackmann, Karl, Rump, Andreas, Haas, Stefan A., Lemke, Johannes R., Fryns, Jean-Pierre, Tzschach, Andreas, Wieczorek, Dagmar, Albrecht, Beate, Kuechler, Alma, Ripperger, Tim, Kobelt, Albrecht, Oexle,

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 651 KB

english, 2016

13

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

Hackmann, Karl, Kuhlee, Franziska, Betcheva-Krajcir, Elitza, Kahlert, Anne-Karin, Mackenroth, Luisa, Klink, Barbara, Di Donato, Nataliya, Tzschach, Andreas, Kast, Karin, Wimberger, Pauline, Schrock, E

Journal:

Breast Cancer Research and Treatment

Année:

2016

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2016

14

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

Podolska, Anna, Kobelt, Albrecht, Fuchs, Sigrid, Hackmann, Karl, Rump, Andreas, Schröck, Evelin, Kutsche, Kerstin, Di Donato, Nataliya

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 1.31 MB

english, 2017

15

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

Abou-El-Ardat, Khalil, Seifert, Michael, Becker, Kerstin, Eisenreich, Sophie, Lehmann, Matthias, Hackmann, Karl, Rump, Andreas, Meijer, Gerrit, Carvalho, Beatriz, Temme, Achim, Schackert, Gabriele, Sc

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 19.27 MB

english, 2017

16

Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec

Journal:

Cancer Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 111 KB

english, 2018

17

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle,

Journal:

Breast Cancer Research

Année:

2018

Langue:

english

Fichier:

PDF, 327 KB

english, 2018

18

Novel truncating PPM1D mutation in a patient with intellectual disability

Porrmann, Joseph, Rump, Andreas, Hackmann, Karl, Di Donato, Nataliya, Kahlert, Anne-Karin, Wagner, Johannes, Jahn, Arne, Eger, Ines, Flury, Monika, Schrock, Evelin, Tzschach, Andreas, Gieldon, Laura

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 775 KB

english, 2018

19

Novel CIC Point Mutations and an Exon-Spanning, Homozygous Deletion Identified in Oligodendroglial Tumors by a Comprehensive Genomic Approach Including Transcriptome Sequencing

Eisenreich, Sophie, Abou-El-Ardat, Khalil, Szafranski, Karol, Campos Valenzuela, Jaime A., Rump, Andreas, Nigro, Janice M., Bjerkvig, Rolf, Gerlach, Eva-Maria, Hackmann, Karl, Schröck, Evelin, Krex, D

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 832 KB

english, 2013

20

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

Lenk, Janine, Porrmann, Joseph, Smitka, Martin, Eger, Ines, Schröck, Evelin, Hackmann, Karl, Herber, Robert, Raiskup, Frederik, Tzschach, Andreas

Journal:

Ophthalmic Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 945 KB

english, 2018

21

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

Rizza, Roberta, Hackmann, Karl, Paris, Ida, Minucci, Angelo, De Leo, Rossella, Schrock, Evelin, Urbani, Andrea, Capoluongo, Ettore, Gelli, Gianfranco, Concolino, Paola

Journal:

Molecular Diagnosis & Therapy

Année:

2018

Langue:

english

Fichier:

PDF, 2.07 MB

english, 2018

22

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

Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, Grützmann, Konrad, Krüger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wi

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 2.27 MB

english, 2019

23

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

Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, Grützmann, Konrad, Krüger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wi

Journal:

Année:

2019

Fichier:

PDF, 2.27 MB

2019

24

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

Gieldon, Laura, William, Doreen, Hackmann, Karl, Jahn, Winnie, Jahn, Arne, Wagner, Johannes, Rump, Andreas, Bechmann, Nicole, Nölting, Svenja, Knösel, Thomas, Gudziol, Volker, Constantinescu, Georgian

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2019

25

Constraining the charge of the Galactic centre black hole

ZajaÄek, Michal, Tursunov, Arman, Eckart, Andreas, Britzen, Silke, Hackmann, Eva, Karas, VladimÃr, StuchlÃk, ZdenÄk, Czerny, Bozena, Zensus, J. Anton

Journal:

Journal of Physics Conference Series

Année:

2019

Fichier:

PDF, 744 KB

2019

26

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Walsh, Sonja, GÃ¶sswein, Sophie Scarlett, Rump, Andreas, Hagen, Maja von der, Hackmann, Karl, SchrÃ¶ck, Evelin, Di Donato, Nataliya, Kahlert, Anne-Karin

Journal:

European Journal of Medical Genetics

Année:

2020

Fichier:

PDF, 751 KB

2020