Thomy de: search on Z-Library

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1

The effect of resistance training, detraining and retraining on muscle strength and power, myofibre size, satellite cells and myonuclei in older men

Blocquiaux, Sara, Gorski, Tatiane, Van Roie, Evelien, Ramaekers, Monique, Van Thienen, Ruud, Nielens, Henri, Delecluse, Christophe, De Bock, Katrien, Thomis, Martine

Journal:

Experimental Gerontology

Year:

2020

File:

PDF, 1.78 MB

2020

2

Sport participation and stress among women and men

Melinda Asztalos, Katrien Wijndaele, Ilse De Bourdeaudhuij, Renaat Philippaerts, Lynn Matton, Nathalie Duvigneaud, Martine Thomis, Johan Lefevre, Greet Cardon

Journal:

Psychology of Sport and Exercise

Year:

2012

Language:

english

File:

PDF, 342 KB

english, 2012

3

High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations

Irina Balikova, Thomy de Ravel, Carmen Ayuso, Bernard Thienpont, Ingele Casteels, Cristina Villaverde, Koenraad Devriendt, Jean-Pierre Fryns, Joris Robert Vermeesch

Journal:

American Journal of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 2.92 MB

english, 2011

4

Novel and recurrentPITX3mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.66 MB

english, 2014

5

What is the best method to determine excessive arm volume in patients with breast cancer–related lymphoedema in clinical practice? Reliability, time efficiency and clinical feasibility of five different methods

De Vrieze, Tessa, Gebruers, Nick, Tjalma, Wiebren AA, Nevelsteen, Ines, Thomis, Sarah, De Groef, An, Dams, Lore, Van der Gucht, Elien, Belgrado, Jean-Paul, Vandermeeren, Liesbeth, Devoogdt, Nele

Journal:

Clinical Rehabilitation

Year:

2019

File:

PDF, 96 KB

2019

6

Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes

Windelinckx, A., De Mars, G., Huygens, W., Peeters, M. W., Vincent, B., Wijmenga, C., Lambrechts, D., Aerssens, J., Vlietinck, R., Beunen, G., Thomis, M. A. I.

Journal:

Physiological Genomics

Year:

2011

Language:

english

File:

PDF, 813 KB

english, 2011

7

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fi

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

8

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

de Ravel, Thomy J L, Taylor, Indira B, Van Oostveldt, Alex J T, Fryns, Jean-Pierre, Wilkie, Andrew O M

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 130 KB

english, 2004

9

Design of a high-field twin aperture superconducting dipole model

Leroy, D., Perin, R., de Rijk, G., Thomi, W.

Journal:

IEEE Transactions on Magnetics

Year:

1988

Language:

english

File:

PDF, 436 KB

english, 1988

10

Genome-wide linkage scan for resistance to muscle fatigue

M. A. Thomis, G. De Mars, A. Windelinckx, M. W. Peeters, W. Huygens, J. Aerssens, G. P. Beunen

Journal:

Scandinavian Journal of Medicine & Science in Sports

Year:

2011

Language:

english

File:

PDF, 202 KB

english, 2011

11

Specific associations between types of physical activity and components of mental health

Melinda Asztalos, Katrien Wijndaele, Ilse De Bourdeaudhuij, Renaat Philippaerts, Lynn Matton, Nathalie Duvigneaud, Martine Thomis, William Duquet, Johan Lefevre, Greet Cardon

Journal:

Journal of Science and Medicine in Sport

Year:

2009

Language:

english

File:

PDF, 761 KB

english, 2009

12

Manual lymph drainage may not have a preventive effect on the development of breast cancer-related lymphoedema in the long term: a randomised trial

Devoogdt, Nele, Geraerts, Inge, Van Kampen, Marijke, De Vrieze, Tessa, Vos, Lore, Neven, Patrick, Vergote, Ignace, Christiaens, Marie-Rose, Thomis, Sarah, De Groef, An

Journal:

Journal of Physiotherapy

Year:

2018

Language:

english

File:

PDF, 487 KB

english, 2018

13

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

Brison, Nathalie, Neofytou, Maria, Dehaspe, Luc, Bayindir, Baran, Van Den Bogaert, Kris, Dardour, Leila, Peeters, Hilde, Van Esch, Hilde, Van Buggenhout, Griet, Vogels, Annick, de Ravel, Thomy, Legius

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

14

Association between leisure time physical activity and stress, social support and coping: A cluster-analytical approach

Katrien Wijndaele, Lynn Matton, Nathalie Duvigneaud, Johan Lefevre, Ilse De Bourdeaudhuij, William Duquet, Martine Thomis, Renaat M. Philippaerts

Journal:

Psychology of Sport and Exercise

Year:

2007

Language:

english

File:

PDF, 217 KB

english, 2007

15

Presenting symptoms in adults with the 22q11 deletion syndrome

Vogels, Annick, Schevenels, Sara, Cayenberghs, Richard, Weyts, Eddy, Van Buggenhout, Griet, Swillen, Ann, Van Esch, Hilde, de Ravel, Thomy, Corveleyn, Pieter, Devriendt, Koen

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 235 KB

english, 2014

16

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.

Journal:

Frontiers in Genetics

Year:

2018

Language:

english

File:

PDF, 292 KB

english, 2018

17

Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women

De Mars, Gunther, Windelinckx, An, Beunen, Gaston, Delecluse, Christophe, Lefevre, Johan, Thomis, Martine A. I.

Journal:

Journal of Applied Physiology

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

18

Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses

Erin Dietzsch, Michele Ramsay, Arnold L. Christianson, Bertram D. Henderson, Dr. Thomy J. L. de Ravel

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 463 KB

english, 1995

19

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

Cassiman, Catherine, Spileers, Werner, De Baere, Elfride, de Ravel, Thomy, Casteels, Ingele

Journal:

Ophthalmic Genetics

Year:

2013

Language:

english

File:

PDF, 772 KB

english, 2013

20

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Bauwens, Miriam, De Zaeytijd, Julie, Weisschuh, Nicole, Kohl, Susanne, Meire, Françoise, Dahan, Karin, Depasse, Fanny, De Jaegere, Sarah, De Ravel, Thomy, De Rademaeker, Marjan, Loeys, Bart, Coppieter

Journal:

Year:

2015

Language:

english

File:

PDF, 492 KB

english, 2015

21

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, DestrÃ©e, Anne, Peng, Michelle, Williams, Denise,

Journal:

Scientific Reports

Year:

2020

Language:

english

File:

PDF, 3.72 MB

english, 2020

22

Possible isochromosome 22 leading to trisomy 22

Bridget F. Manasse, Wilma M. Pfaffenzeller, Nursen Gurtunca, Thomy J.L. de Ravel

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 542 KB

english, 2000

23

Postmortem Fetal Imaging of a Metabolic Pluricystic Kidney Disease

Claus, Filip, Hindryckx, An, de Ravel, Thomy, Sandaite, Inga, De Catte, Luc, Moerman, Philippe

Journal:

Fetal Diagnosis and Therapy

Year:

2011

Language:

english

File:

PDF, 567 KB

english, 2011

24

Metabolic fitness in relation to genetic variation and leukocyte DNA methylation

Caspers, Maarten, Blocquiaux, Sara, Charlier, Ruben, Lefevre, Johan, De Bock, Katrien, Thomis, Martine

Journal:

Physiological Genomics

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

25

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Ellen Denayer, Annabel Parret, Magdalena Chmara, Suzanne Schubbert, Annick Vogels, Koen Devriendt, Jean-Pierre Frijns, Vladimir Rybin, Thomy J. de Ravel, Kevin Shannon, Jan Cools, Klaus Scheffzek, Eri

Journal:

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

26

Genetics of Regular Exercise and Sedentary Behaviors

de Geus, Eco J.C., Bartels, Meike, Kaprio, Jaakko, Lightfoot, J. Timothy, Thomis, Martine

Journal:

Twin Research and Human Genetics

Year:

2014

Language:

english

File:

PDF, 160 KB

english, 2014

27

Physical activity level and age contribute to functioning problems in patients with breast cancer-related lymphedema: a multicentre cross-sectional study

De Vrieze, Tessa, Gebruers, Nick, Nevelsteen, Ines, Tjalma, Wiebren A. A., Thomis, Sarah, De Groef, An, Dams, Lore, Van der Gucht, Elien, Devoogdt, Nele

Journal:

Supportive Care in Cancer

Year:

2020

Language:

english

File:

PDF, 417 KB

english, 2020

28

The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement

Isabelle Bailleul-Forestier, Ariane Berdal, Frans Vinckier, Thomy de Ravel, Jean Pierre Fryns, Alain Verloes

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.71 MB

english, 2008

29

Transfer of aneuploid embryos following preimplantation genetic diagnosis: the added value of a haplotyping-based genome-wide approach

Melotte, Cindy, Dimitriadou, Eftychia, Debrock, Sophie, Devriendt, Koen, De Ravel, Thomy, Legius, Eric, Peeraer, Karen, Vermeesch, Joris Robert

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

30

Polymorphisms in the vitamin D receptor gene are associated with muscle strength in men and women

A. Windelinckx, G. De Mars, G. Beunen, J. Aerssens, C. Delecluse, J. Lefevre, M. A. I. Thomis

Journal:

Osteoporosis International

Year:

2007

Language:

english

File:

PDF, 190 KB

english, 2007

31

Expanding the Spectrum of FOXC1 and PITX2 Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

D'haene, Barbara, Meire, Françoise, Claerhout, Ilse, Kroes, Hester Y., Plomp, Astrid, Arens, Yvonne H., de Ravel, Thomy, Casteels, Ingele, De Jaegere, Sarah, Hooghe, Sally, Wuyts, Wim, van den Ende, J

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 1.77 MB

english, 2011

32

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Fieremans, Nathalie, Van Esch, Hilde, de Ravel, Thomy, Van Driessche, Jozef, Belet, Stefanie, Bauters, Marijke, Froyen, Guy

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 653 KB

english, 2015

33

ACTN3 (R577X) genotype is associated with fiber type distribution

Vincent, B., De Bock, K., Ramaekers, M., Van den Eede, E., Van Leemputte, M., Hespel, P., Thomis, M. A.

Journal:

Physiological Genomics

Year:

2007

Language:

english

File:

PDF, 335 KB

english, 2007

34

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Ellen Denayer, Koen Devriendt, Thomy de Ravel, Griet Van Buggenhout, Eric Smeets, Inge Francois, Yves Sznajer, Margarita Craen, George Leventopoulos, Léon Mutesa, Willy Vandecasseye, Guy Massa, Hulya

Journal:

Genes, Chromosomes and Cancer

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

35

Post-zygotic origin of isochromosome 12p

Dr Thomy J. L. de Ravel, Kathelijn Keymolen, Elvire van Assche, Ingrid Wittevronghel, Philippe Moerman, Ivo Salden, Gert Matthijs, Jean-Pierre Fryns, Joris R. Vermeesch

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

36

Human variome project country nodes: Documenting genetic information within a country

George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de

Journal:

Year:

2012

Language:

english

File:

PDF, 175 KB

english, 2012

37

Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

Yzer, Suzanne, Leroy, Bart P., De Baere, Elfride, de Ravel, Thomy J., Zonneveld, Marijke N., Voesenek, Krysta, Kellner, Ulrich, Ciriano, Jose P. Martinez, de Faber, Jan-Tjeerd H. N., Rohrschneider, Kl

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 464 KB

english, 2006

38

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

Dimitriadou, Eftychia, Melotte, Cindy, Debrock, Sophie, Esteki, Masoud Zamani, Dierickx, Kris, Voet, Thierry, Devriendt, Koen, de Ravel, Thomy, Legius, Eric, Peeraer, Karen, Meuleman, Christel, Vermee

Journal:

Human Reproduction

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

39

Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21

Kenneth Carels, Luc De Catte, Philippe Moerman, Thomy de Ravel, Raymond Oyen, Jan Deprest, Filip Claus

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 76 KB

english, 2012

40

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

Thomy J. de Ravel, Irina Balikova, Paul Thiry, Joris R. Vermeesch, Jean-Pierre Frijns

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

41

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

Rossenbacker, Tom, Carroll, Sheila J., Liu, Huajun, Kuipéri, Cuno, de Ravel, Thomy J.L., Devriendt, Koen, Carmeliet, Peter, Kass, Robert S., Heidbüchel, Hein

Journal:

Year:

2004

Language:

english

File:

PDF, 213 KB

english, 2004

42

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

Ripamonti, Caterina, Henning, G. Bruce, Robbie, Scott J., Sundaram, Venki, van den Born, L. Ingeborgh, Casteels, Ingele, de Ravel, Thomy J. L., Moore, Anthony T., Smith, Alexander J., Bainbridge, Jame

Journal:

Journal of Vision

Year:

2015

Language:

english

File:

PDF, 1.27 MB

english, 2015

43

Revisiting the phenotype associated withFOXG1mutations: two novel cases of congenital Rett variant

Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, Hilde Van Esch, Thomy De Ravel, Nathalie Boddaert, Perrine Plouin, Marlene Rio, Yann Fichou, Jamel Chelly, Thierry Bienvenu

Journal:

Year:

2010

Language:

english

File:

PDF, 485 KB

english, 2010

44

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, An

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 474 KB

english, 2014

45

Covariance of Isometric and Dynamic Arm Contractions: Multivariate Genetic Analysis

Mars, Gunther De, Thomis, Martine A. I., Windelinckx, An, Leemputte, Marc Van, Maes, Hermine H., Blimkie, Cameron J., Claessens, Albrecht L., Vlietinck, Robert, Beunen, Gaston

Journal:

Twin Research and Human Genetics

Year:

2007

Language:

english

File:

PDF, 136 KB

english, 2007

46

An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter→18q12.2

Thomy J.L de Ravel, Gert Matthijs, Jean-Pierre Fryns

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 138 KB

english, 2001

47

Tetra-amelia and splenogonadal fusion in Roberts syndrome

de Ravel, Thomy J. L., Seftel, Matthew D., Wright, Colleen A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 258 KB

english, 1997

48

Novel mutations and polymorphisms in the Fanconi anemia group C gene

Rachel A. Gibson, Neil V. Morgan, Laura H. Goldstein, Ian C. Pearson, Ian P. Kesterton, Nicola J. Foot, Stander Jansen, Charmaine Havenga, Thomas Pearson, Thomy J. de Ravel, Richard J. Cohn, Isabel M.

Journal:

Year:

1996

Language:

english

File:

PDF, 982 KB

english, 1996

49

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

Kurth, Ingo, Klopocki, Eva, Stricker, Sigmar, van Oosterwijk, Jolieke, Vanek, Sebastian, Altmann, Jens, Santos, Heliosa G, van Harssel, Jeske J T, de Ravel, Thomy, Wilkie, Andrew O M

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

50

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

Liesbeth Backx, Joris Vermeesch, Elly Pijkels, Thomy de Ravel, Eve Seuntjens, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 544 KB

english, 2010

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