Peter Krawitz : rechercher sur Z-Library

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1

Identifying facial phenotypes of genetic disorders using deep learning

Gurovich, Yaron, Hanani, Yair, Bar, Omri, Nadav, Guy, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter M., Kamphausen, Susanne B., Zenker, Martin, Bird, Lynne M., Gripp, Karen W.

Journal:

Nature Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2019

2

Host cell protein testing by ELISAs and the use of orthogonal methods

Zhu-Shimoni, Judith, Yu, Christopher, Nishihara, Julie, Wong, Robert M., Gunawan, Feny, Lin, Margaret, Krawitz, Denise, Liu, Peter, Sandoval, Wendy, Vanderlaan, Martin

Journal:

Biotechnology and Bioengineering

Année:

2014

Langue:

english

Fichier:

PDF, 6.16 MB

english, 2014

3

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Sebastian Köhler, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E. Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 718 KB

english, 2009

4

Use of animal models for exome prioritization of rare disease genes

Smedley, Damian, Kohler, Sebastian, Bone, William, Oellrich, Anika, Jacobsen, Jules, Wang, Kai, Mungall, Chris, Washington, Nicole, Bauer, Sebastian, Seelow, Dominic, Krawitz, Peter, Boerkel, Corneliu

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 285 KB

english, 2014

5

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gil

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 3.57 MB

english, 2015

6

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 2.38 MB

2020

7

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

Denise Horn, Peter Krawitz, Anca Mannhardt, Georg Christoph Korenke, Peter Meinecke

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2011

8

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Miles D. Thompson, Tony Roscioli, Carlo Marcelis, Marjan M. Nezarati, Irene Stolte-Dijkstra, Frances J. Sharom, Peihua Lu, John A. Phillips, Elizabeth Sweeney, Peter N. Robinson, Peter Krawitz, Helger

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 218 KB

english, 2012

9

103 Do acute mucosal reactions lead to consequential late reactions in patients with head and neck cancer?

J. Denham, L. Peters, J. Johansen, M. Poulsen, D. Lamb, A. Hindley, P. O'Brien, H. Krawitz, C. Hamilton, N. Spry, C. Wratten

Journal:

International Journal of Radiation Oncology*Biology*Physics

Année:

1999

Langue:

english

Fichier:

PDF, 136 KB

english, 1999

10

Acute toxicity and cost analysis of a phase III randomized trial of accelerated and conventional radiotherapy for squamous carcinoma of the head and neck: A Trans-Tasman Radiation Oncology Group study

M Poulsen, J Denham, N Spry, D Lamb, L Peters, H Krawitz, M Penniment, S Williamson1, L Tripcony

Journal:

Journal of Medical Imaging and Radiation Oncology

Année:

1999

Langue:

english

Fichier:

PDF, 84 KB

english, 1999

11

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Krawitz, Peter M, Schweiger, Michal R, Rödelsperger, Christian, Marcelis, Carlo, Kölsch, Uwe, Meisel, Christian, Stephani, Friederike, Kinoshita, Taroh, Murakami, Yoshiko, Bauer, Sebastian

Journal:

Nature Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 334 KB

english, 2010

12

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter M. Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan E. Holder, Geert R. Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon Kielbasa, Taroh Kin

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 635 KB

english, 2012

13

VZV meningitis following varicella vaccine

Dahlene Fusco, Peter Krawitz, Philip LaRussa, Sharon Steinberg, Anne Gershon, Jonathan Jacobs

Journal:

Journal of Clinical Virology

Année:

2010

Langue:

english

Fichier:

PDF, 91 KB

english, 2010

14

A randomised trial of accelerated and conventional radiotherapy for stage III and IV squamous carcinoma of the head and neck: a Trans-Tasman Radiation Oncology Group Study

M.G Poulsen, J.W Denham, L.J Peters, D.S Lamb, N.A Spry, A Hindley, H Krawitz, C Hamilton, J Keller, L Tripcony, Q Walker

Journal:

Cancer/Radiothérapie

Année:

2002

Langue:

french

Fichier:

PDF, 24 KB

french, 2002

15

Platelet, erythrocyte, and fibrinogen kinetics in the hemolytic-uremic syndrome of infancy

Jack Katz, Selma Krawitz, Peter V. Sacks, Solomon E. Levin, Peter Thomson, Joseph Levin, Jack Metz

Journal:

The Journal of Pediatrics

Année:

1973

Langue:

english

Fichier:

PDF, 1.19 MB

english, 1973

16

O-225 Tumor volume correlates poorly with disease stage in non-small cell lung cancer (NSCLC): preliminary analysis of the Trans-Tasman Radiation Oncology Group (TROG) 99-05 database

Ball, David, Burmeister, Bryan, Graham, Peter, Penniment, Michael, Joseph, David, Krawitz, Hedley, Fisher, Richard, McClure, Bev, Manus, Michael Mac

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 165 KB

english, 2003

17

P-351 Is tumor volume an independent prognostic factor in non-smallcell lung cancer (NSCLC) treated with radical radiotherapy? Interim analysis of the Trans-Tasman Radiation Oncology Group (TROG) database 99-05

Ball, D., Bryan, B., Peter, G., Penniment, M., Joseph, D., Poulsen, M., Krawitz, H., Wheeler, G., Fisher, R., McClure, B.

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 138 KB

english, 2005

18

Disseminated oligodendroglial-like leptomeningeal tumor of childhood: a distinctive clinicopathologic entity

Fausto J. Rodriguez, Arie Perry, Marc K. Rosenblum, Sherry Krawitz, Kenneth J. Cohen, Doris Lin, Stacy Mosier, Ming-Tseh Lin, Charles G. Eberhart, Peter C. Burger

Journal:

Acta Neuropathologica

Année:

2012

Langue:

english

Fichier:

PDF, 2.75 MB

english, 2012

19

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

Malte Spielmann, Francesco Brancati, Peter M. Krawitz, Peter N. Robinson, Daniel M. Ibrahim, Martin Franke, Jochen Hecht, Silke Lohan, Katarina Dathe, Anna Maria Nardone, Paola Ferrari, Antonio Landi,

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 876 KB

english, 2012

20

A randomised trial of accelerated and conventional radiotherapy for stage III and IV squamous carcinoma of the head and neck: a Trans-Tasman Radiation Oncology Group Study

Michael G Poulsen, James W Denham, Lester J Peters, David S Lamb, Nigel A Spry, Andrew Hindley, Hedley Krawitz, Chris Hamilton, Jacqui Keller, Lee Tripcony, Quenten Walker

Journal:

Radiotherapy and Oncology

Année:

2001

Langue:

english

Fichier:

PDF, 359 KB

english, 2001

21

The effect of anaemia on efficacy and normal tissue toxicity following radiotherapy for locally advanced squamous cell carcinoma of the head and neck

Tiffany Daly, Michael G Poulsen, James W Denham, Lester J Peters, David S Lamb, Hedley Krawitz, Chris Hamilton, Jacqui Keller, Lee Tripcony, Quenten Walker

Journal:

Radiotherapy and Oncology

Année:

2003

Langue:

english

Fichier:

PDF, 282 KB

english, 2003

22

Do acute mucosal reactions lead to consequential late reactions in patients with head and neck cancer?

James W. Denham, Lester J. Peters, Jorgan Johansen, Micheal Poulsen, David S. Lamb, Andrew Hindley, Peter C. O'Brien, Nigel A. Spry, Micheal Penniment, Hedley Krawitz, Stephen Williamson, Joelle Bear,

Journal:

Radiotherapy and Oncology

Année:

1999

Langue:

english

Fichier:

PDF, 131 KB

english, 1999

23

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M

Journal:

Genome Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 668 KB

english, 2013

24

Jannovar: A Java Library for Exome Annotation

Jäger, Marten, Wang, Kai, Bauer, Sebastian, Smedley, Damian, Krawitz, Peter, Robinson, Peter N.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 532 KB

english, 2014

25

8. Genetic basis of Mabry’s syndrome

Thompson, Miles D., Roscioli, Tony, Hwang, Paul A., Robinson, Peter N., Andrade, Danielle M., Krawitz, Peter

Journal:

Clinical Neurophysiology

Année:

2014

Langue:

english

Fichier:

PDF, 32 KB

english, 2014

26

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 447 KB

english, 2013

27

The complex relationship between lung tumor volume and survival in patients with non-small cell lung cancer treated by definitive radiotherapy: A prospective, observational prognostic factor study of the Trans-Tasman Radiation Oncology Group (TROG 99.05)

Ball, David L., Fisher, Richard J., Burmeister, Bryan H., Poulsen, Michael G., Graham, Peter H., Penniment, Michael G., Vinod, Shalini K., Krawitz, Hedley E., Joseph, David J., Wheeler, Greg C., McClu

Journal:

Radiotherapy and Oncology

Année:

2013

Langue:

english

Fichier:

PDF, 260 KB

english, 2013

28

Basin Entropy in Boolean Network Ensembles

Krawitz, Peter, Shmulevich, Ilya

Journal:

Physical Review Letters

Année:

2007

Langue:

english

Fichier:

PDF, 132 KB

english, 2007

29

Entropy of complex relevant components of Boolean networks

Krawitz, Peter, Shmulevich, Ilya

Journal:

Physical Review E

Année:

2007

Langue:

english

Fichier:

PDF, 137 KB

english, 2007

30

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

Krawitz, Peter M., Schiska, Daniela, Krüger, Ulrike, Appelt, Sandra, Heinrich, Verena, Parkhomchuk, Dmitri, Timmermann, Bernd, Millan, Jose M., Robinson, Peter N., Mundlos, Stefan, Hecht, Jochen, Gros

Journal:

Molecular Genetics & Genomic Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 153 KB

english, 2014

31

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, B

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2015

32

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Emmerich, Denise, Zemojtel, Tomasz, Hecht, Jochen, Krawitz, Peter, Spielmann, Malte, Kühnisch, Jirko, Kobus, Karolina, Osswald, Monika, Heinrich, Verena, Berlien, Peter, Müller, Ute, Mautner, Victor-F

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 205 KB

english, 2015

33

Quality assurance audit in an Australasian phase III trial of accelerated radiotherapy for head and neck cancer (TROG 91.01)

Hamilton, C, Poulsen, M, Walker, Q, Krawitz, H, Hindley, A, Spry, N, Peters, L, Lamb, D, Denham, J, Steigler, A

Journal:

Australasian Radiology

Année:

1999

Langue:

english

Fichier:

PDF, 2.63 MB

english, 1999

34

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Roncarati, Roberta, Viviani Anselmi, Chiara, Krawitz, Peter, Lattanzi, Giovanna, von Kodolitsch, Yskert, Perrot, Andreas, di Pasquale, Elisa, Papa, Laura, Portararo, Paola, Columbaro, Marta, Forni, Al

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2013

35

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, B

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 59 KB

english, 2015

36

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls

Zhu, Na, Heinrich, Verena, Dickhaus, Thorsten, Hecht, Jochen, Robinson, Peter N., Mundlos, Stefan, Kamphans, Tom, Krawitz, Peter M.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 504 KB

english, 2015

37

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cer

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 2.16 MB

english, 2016

38

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Marchal, Juan Alberto, Ghani, Mahdi, Schindler, Detlev, Gavvovidis, Ioannis, Winkler, Tina, Esquitino, Veronique, Sternberg, Nadine, Busche, Andreas, Krawitz, Peter, Hecht, Joachim, Robinson, Peter, M

Journal:

Année:

2011

Fichier:

PDF, 2.42 MB

2011

39

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Marchal, Juan Alberto, Ghani, Mahdi, Schindler, Detlev, Gavvovidis, Ioannis, Winkler, Tina, Esquitino, Veronique, Sternberg, Nadine, Busche, Andreas, Krawitz, Peter, Hecht, Joachim, Robinson, Peter, M

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 2.42 MB

english, 2011

40

The Genomic Birthday Paradox: How Much Is Enough?

Krawitz, Peter, Buske, Orion, Zhu, Na, Brudno, Michael, Robinson, Peter N.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 711 KB

english, 2015

41

Stage Is Not a Reliable Indicator of Tumor Volume in Non-small Cell Lung Cancer: A Preliminary Analysis of the Trans-Tasman Radiation Oncology Group 99-05 Database

Ball, David L., Fisher, Richard, Burmeister, Bryan, Graham, Peter, Joseph, David, Penniment, Michael, Krawitz, Hedley, Wheeler, Greg, Poulsen, Michael, Vinod, Shalini, McClure, Bev

Journal:

Journal of Thoracic Oncology

Année:

2006

Langue:

english

Fichier:

PDF, 228 KB

english, 2006

42

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

Ehmke, Nadja, Parvaneh, Nima, Krawitz, Peter, Ashrafi, Mahmoud-Reza, Karimi, Parviz, Mehdizadeh, Mehrzad, Krüger, Ulrike, Hecht, Jochen, Mundlos, Stefan, Robinson, Peter N.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 370 KB

english, 2014

43

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N., Krawitz, Peter M.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 421 KB

english, 2016

44

Juvenile arthritis caused by a novelFAMIN (LACC1)mutation in two children with systemic and extended oligoarticular course

Kallinich, Tilmann, Thorwarth, Anne, von Stuckrad, Sae-Lim, Rösen-Wolff, Angela, Luksch, Hella, Hundsdoerfer, Patrick, Minden, Kirsten, Krawitz, Peter

Journal:

Pediatric Rheumatology

Année:

2016

Langue:

english

Fichier:

PDF, 413 KB

english, 2016

45

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii-Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann-Charlotte, Feuk, Lars

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 967 KB

english, 2017

46

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

Spielmann, Malte, Hernandez-Miranda, Luis R, Ceccherini, Isabella, Weese-Mayer, Debra E, Kragesteen, Bjørt K, Harabula, Izabela, Krawitz, Peter, Birchmeier, Carmen, Leonard, Norma, Mundlos, Stefan

Journal:

Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 2.25 MB

english, 2017

47

Stage Is Not a Reliable Indicator of Tumor Volume in Non-small Cell Lung Cancer: A Preliminary Analysis of the Trans-Tasman Radiation Oncology Group 99-05 Database

Ball, David L., Fisher, Richard, Burmeister, Bryan, Graham, Peter, Joseph, David, Penniment, Michael, Krawitz, Hedley, Wheeler, Greg, Poulsen, Michael, Vinod, Shalini, McClure, Bev

Journal:

Journal of Thoracic Oncology

Année:

2006

Langue:

english

Fichier:

PDF, 366 KB

english, 2006

48

Comparison of Platform Host Cell Protein ELISA to Process-Specific Host Cell Protein ELISA

Gunawan, Feny, Nishihara, Julie, Liu, Peter, Sandoval, Wendy, Vanderlaan, Marty, Zhang, Heidi, Krawitz, Denise

Journal:

Biotechnology and Bioengineering

Année:

2017

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2017

49

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Pantel, Jean T., Zhao, Max, Mensah, Martin A., Hajjir, Nurulhuda, Hsieh, Tzung-Chien, Hanani, Yair, Fleischer, Nicole, Kamphans, Tom, Mundlos, Stefan, Gurovich, Yaron, Krawitz, Peter M.

Journal:

Journal of Inherited Metabolic Disease

Année:

2018

Langue:

english

Fichier:

PDF, 976 KB

english, 2018

50

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M., Wang, Kai

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 866 KB

english, 2013