Spier, Isabel: search on Z-Library

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1

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

Spier, Isabel, Drichel, Dmitriy, Kerick, Martin, Kirfel, Jutta, Horpaopan, Sukanya, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao, Becker, Tim, Lifton, Richard P, Pern

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

2

Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes

Kayser, Katrin, Degenhardt, Franziska, Holzapfel, Stefanie, Horpaopan, Sukanya, Peters, Sophia, Spier, Isabel, Morak, Monika, Vangala, Deepak, Rahner, Nils, von Knebel-Doeberitz, Magnus, Schackert, Ha

Journal:

International Journal of Cancer

Year:

2018

Language:

english

File:

PDF, 850 KB

english, 2018

3

Ergebnisse nach prophylaktischer totaler Gastrektomie bei erblichem diffusem Magenkrebs

Pantelis, Dimitrios, Lingohr, Philipp, Hueneburg, Robert, Spier, Isabel, Vilz, Tim, Lau, Jan, Nattermann, Jacob, Aretz, Stefan, Strassburg, Christian, Kalff, Jörg

Journal:

Zentralblatt für Chirurgie

Year:

2018

File:

PDF, 228 KB

2018

4

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

Isabel Spier, Sukanya Horpaopan, Stefanie Vogt, Siegfried Uhlhaas, Monika Morak, Dietlinde Stienen, Markus Draaken, Michael Ludwig, Elke Holinski-Feder, Markus M. Nöthen, Per Hoffmann, Stefan Aretz

Journal:

Year:

2012

Language:

english

File:

PDF, 213 KB

english, 2012

5

Measurement of the time spent by a tunnelling atom within the barrier region

Ramos, RamÃ³n, Spierings, David, Racicot, Isabelle, Steinberg, Aephraim M.

Journal:

Year:

2020

File:

PDF, 1.93 MB

2020

6

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barb

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 976 KB

english, 2014

7

Clinical findings and management of 153 horses with large colon sand accumulations

Kilcoyne, Isabelle, Dechant, Julie E., Spier, Sharon J., Spriet, Mathieu, Nieto, Jorge E.

Journal:

Veterinary Surgery

Year:

2017

Language:

english

File:

PDF, 90 KB

english, 2017

8

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

Spier, Isabel, Kerick, Martin, Drichel, Dmitriy, Horpaopan, Sukanya, Altmüller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Adam, Ronja, Zhao, Bixiao, Becker, Tim, Lifton, Richard P.,

Journal:

Familial Cancer

Year:

2016

Language:

english

File:

PDF, 474 KB

english, 2016

9

Überwuchssyndrome durch Mutationsmosaike im PI3K-AKT-Signalweg; Overgrowth syndromes caused by mosaic mutations in the PI3K-AKT signaling pathway;

Spier, Isabel, Aretz, Stefan

Journal:

medizinische genetik

Year:

2017

Language:

german

File:

PDF, 1010 KB

german, 2017

10

595 SYNCHRONOUS OCCURENCE OF PRENEOPLASTIC LESIONS IN THE UPPER GASTROINTESTINAL TRACT AND CANCER IN PATIENTS WITH LYNCH SYNDROME

HÃ¼neburg, Robert, Heling, Dominik, Marwitz, Tim, Vilz, Tim, Kalff, JÃ¶rg C., Perne, Claudia, Spier, Isabel, Aretz, Stefan, Strassburg, Christian P., Nattermann, Jacob

Journal:

Gastroenterology

Year:

2020

File:

PDF, 464 KB

2020

11

Alternative management of complex wounds and fistulae

Renton, Sandra, Robertson, Isabell, Spiers, Mary

Journal:

British Journal of Nursing

Year:

2006

Language:

english

File:

PDF, 262 KB

english, 2006

12

The Effect of a High Fat/High Sugar Diet on Physical Activity in Female Mice

Vellers, Heather L., Granados, Jorge Z., Letzinger, Ayland C., Walker, Nick R., Spier, Madison E., Lambertz, Isabel, Fuchs-Young, Robin, Lightfoot, J Timothy

Journal:

Medicine & Science in Sports & Exercise

Year:

2016

Language:

english

File:

PDF, 186 KB

english, 2016

13

Novel Insights Into the Phenotypical Spectrum of KIF11 -Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Müller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J., Charbel Issa, Peter

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

14

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmüller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, S

Journal:

International Journal of Cancer

Year:

2015

Language:

english

File:

PDF, 3.21 MB

english, 2015

15

7,12-dimethylbenz(a)-anthracene (DMBA) & High Fat High Sugar Diet Decrease Physical Activity in Female Mice

Granados, Jorge Z., Letsinger, Ayland C., Vellers, Heather L., Garcia, Victor A., Velasco, Jeremiah D., Walker, Nicholas R., Spier, Madison, Lambertz, Isabel, Fuchs-Young, Robin, Lightfoot, J. Timothy

Journal:

Medicine & Science in Sports & Exercise

Year:

2017

Language:

english

File:

PDF, 106 KB

english, 2017

16

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

Aretz, Stefan, Tricarico, Rossella, Papi, Laura, Spier, Isabel, Pin, Elisa, Horpaopan, Sukanya, Cordisco, Emanuela Lucci, Pedroni, Monica, Stienen, Dietlinde, Gentile, Annamaria, Panza, Anna, Piepoli,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 617 KB

english, 2014

17

Incidence, management, and outcome of complications of castration in equids: 324 cases (1998–2008)

Kilcoyne, Isabelle, Watson, Johanna L., Kass, Philip H., Spier, Sharon J.

Journal:

Journal of the American Veterinary Medical Association

Year:

2013

Language:

english

File:

PDF, 262 KB

english, 2013

18

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

Spier, Isabel, Engels, Hartmut, Stutte, Sonja, Reutter, Heiko, Bartels, Enrika, Matos Meder, Sarah, Begemann, Matthias, Mangold, Elisabeth, Eggermann, Thomas

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 966 KB

english, 2019

19

Seltene Tumoren als Leitsymptom hereditÃ¤rer Tumorsyndrome; Rare tumors as leading symptom of hereditary tumor syndromes;

Perne, Claudia, Steinke-Lange, Verena, Aretz, Stefan, Spier, Isabel

Journal:

Year:

2020

File:

PDF, 933 KB

2020

20

Penetrating injuries to the frog (cuneus ungulae) and collateral sulci of the foot in equids: 63 cases (1998–2008)

Kilcoyne, Isabelle, Dechant, Julie E., Kass, Philip H., Spier, Sharon J.

Journal:

Journal of the American Veterinary Medical Association

Year:

2011

Language:

english

File:

PDF, 461 KB

english, 2011

21

Effect of Humic Substance Photoalteration on Lead Bioavailability to Freshwater Microalgae

Spierings, Julian, Worms, Isabelle A. M., Miéville, Pascal, Slaveykova, Vera I.

Journal:

Environmental Science & Technology

Year:

2011

Language:

english

File:

PDF, 860 KB

english, 2011

22

MDR1 Gene Transfer Using a Lentiviral SIN Vector Confers Radioprotection to Human CD34⁺ Hematopoietic Progenitor Cells

Patrick Maier, Carsten Herskind, Katharina Fleckenstein, Isabel Spier, Stephanie Laufs, W. Jens Zeller, Stefan Fruehauf and Frederik Wenz

Journal:

Radiation Research

Year:

2008

Language:

english

File:

PDF, 1.95 MB

english, 2008

23

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

Adam, Ronja, Spier, Isabel, Zhao, Bixiao, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.34 MB

english, 2016

24

Tu1669 – Chromoendoscopy Leads to a Higher Insight-Stage in Patients with Familial Adenomatous Polyposis (CHROPOL II)

Hüneburg, Robert, Heling, Dominik, Kaczmarek, Dominik J., van Heteren, Peer, Fimmers, Rolf, Berger, Moritz, Coch, Christoph, Lau, Jan-Frederic, Kristiansen, Glen, Weismüller, Tobias, Spier, Isabel, Ar

Journal:

Gastroenterology

Year:

2019

Language:

english

File:

PDF, 440 KB

english, 2019

25

The Effect Of A High Fat/high Sugar Diet And Physical Activity On Body Fat Percentage And Bone Mineral Density

Letsinger, Ayland C., Vellers, Heather L., Granados, Jorge Z., Walker, Nick R., Spier, Madison E., Lambertz, Isabel, Fuchs-Young, Robin, Lightfoot, J. Timothy

Journal:

Medicine & Science in Sports & Exercise

Year:

2016

Language:

english

File:

PDF, 244 KB

english, 2016

26

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Henn, Jonas, Spier, Isabel, Adam, Ronja S., Holzapfel, Stefanie, Uhlhaas, Siegfried, Kayser, Katrin, Plotz, Guido, Peters, Sophia, Aretz, Stefan

Journal:

Hereditary Cancer in Clinical Practice

Year:

2019

File:

PDF, 1001 KB

2019

27

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Spier, Isabel, Holzapfel, Stefanie, Altmüller, Janine, Zhao, Bixiao, Horpaopan, Sukanya, Vogt, Stefanie, Chen, Sophia, Morak, Monika, Raeder, Susanne, Kayser, Katrin, Stienen, Dietlinde, Adam, Ronja,

Journal:

International Journal of Cancer

Year:

2015

Language:

english

File:

PDF, 1.88 MB

english, 2015

28

Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy

Casper, Markus, Spier, Isabel, Holz, Robert, Aretz, Stefan, Lammert, Frank

Journal:

American Journal of Gastroenterology

Year:

2018

Language:

english

File:

PDF, 285 KB

english, 2018

29

597 OUTCOMES OF ENDOSCOPIC SURVEILLANCE AND FAMILY HISTORY OF PATIENTS WITH A GENETIC PREDISPOSITION FOR HEREDITARY DIFFUSE GASTRIC CANCER

HÃ¼neburg, Robert, Marwitz, Tim, Heling, Dominik, WeismÃ¼ller, Tobias, Lau, Jan-Frederic, Kristiansen, Glen, Lingohr, Philipp, Spier, Isabel, Kalff, JÃ¶rg C., Aretz, Stefan, Strassburg, Christian P.,

Journal:

Gastroenterology

Year:

2020

File:

PDF, 131 KB

2020

30

MDR1 Gene Transfer Using a Lentiviral SIN Vector Confers Radioprotection to Human CD34 + Hematopoietic Progenitor Cells

Maier, Patrick, Herskind, Carsten, Fleckenstein, Katharina, Spier, Isabel, Laufs, Stephanie, Zeller, W. Jens, Fruehauf, Stefan, Wenz, Frederik

Journal:

Radiation Research

Year:

2008

Language:

english

File:

PDF, 215 KB

english, 2008

31

Paraoxonase 1 serum activity in women: the effects of menopause, the C(-107)T polymorphism and food intake

Ritta, Mauren Castro, Baldez, Aline Marques, Oliveira, Isabel Oliveira de, Garcia, Driele Neske, Souza, Paola Spiering, Andrade, Kelvin Ruan da Silva, Valle, Sandra Costa, Pieniz, Simone, Barros, Carl

Journal:

Archives of Endocrinology and Metabolism

Year:

2019

Language:

english

File:

PDF, 179 KB

english, 2019

32

Frequency of Corynebacterium pseudotuberculosis infection in horses across the United States during a 10-year period

Kilcoyne, Isabelle, Spier, Sharon J., Carter, Craig N., Smith, Jacqueline L., Swinford, Amy K., Cohen, Noah D.

Journal:

Journal of the American Veterinary Medical Association

Year:

2014

Language:

english

File:

PDF, 301 KB

english, 2014

33

Frequency of shedding of respiratory pathogens in horses recently imported to the United States

Smith, Fauna Leah, Watson, Johanna L., Spier, Sharon J., Kilcoyne, Isabelle, Mapes, Samantha, Sonder, Claudia, Pusterla, Nicola

Journal:

Journal of Veterinary Internal Medicine

Year:

2018

Language:

english

File:

PDF, 482 KB

english, 2018

34

Seltene Tumoren als Leitsymptom hereditÃ¤rer Tumorsyndrome; Rare tumors as aÂ leading symptom of hereditary tumor syndromes;

Perne, Claudia, Steinke-Lange, Verena, Aretz, Stefan, Spier, Isabel

Journal:

Year:

2020

Language:

german

File:

PDF, 823 KB

german, 2020

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