T. Fokstuen : rechercher sur Z-Library

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1

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Siv Fokstuen, Robert Lyle, Analia Munoz, Corinne Gehrig, René Lerch, Andreas Perrot, Karl Josef Osterziel, Christian Geier, Maurice Beghetti, François Mach, Juan Sztajzel, Ulrich Sigwart, Stylianos E.

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 227 KB

english, 2008

2

Phase III Trial of Cetuximab With Continuous or Intermittent Fluorouracil, Leucovorin, and Oxaliplatin (Nordic FLOX) Versus FLOX Alone in First-Line Treatment of Metastatic Colorectal Cancer: The NORDIC-VII Study

Tveit, K. M., Guren, T., Glimelius, B., Pfeiffer, P., Sorbye, H., Pyrhonen, S., Sigurdsson, F., Kure, E., Ikdahl, T., Skovlund, E., Fokstuen, T., Hansen, F., Hofsli, E., Birkemeyer, E., Johnsson, A.,

Journal:

Journal of Clinical Oncology

Année:

2012

Langue:

english

Fichier:

PDF, 236 KB

english, 2012

3

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

István Magyar, Dvora Colman, Eliane Arnold, Daniela Baumgartner, Armand Bottani, Siv Fokstuen, Marie-Claude Addor, Wolfgang Berger, Thierry Carrel, Beat Steinmann, Gábor Mátyás

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 363 KB

english, 2009

4

Grossesse et syndrome d’Ehlers-Danlos vasculaire : prise en charge et complications

Dubruc, E., Dupuis-Girod, S., Khau Van Kien, P., Denis-Belicard, E., Chirossel, C., Fokstuen, S., Touraine, R., Plauchu, H.

Journal:

Journal de Gynécologie Obstétrique et Biologie de la Reproduction

Année:

2013

Fichier:

PDF, 221 KB

2013

5

Adjuvant chemotherapy for rectal cancer patients treated with preoperative (chemo)radiotherapy and total mesorectal excision: a Dutch Colorectal Cancer Group (DCCG) randomized phase III trial

Breugom, A. J., van Gijn, W., Muller, E. W., Berglund, A., van den Broek, C. B. M., Fokstuen, T., Gelderblom, H., Kapiteijn, E., Leer, J. W. H., Marijnen, C. A. M., Martijn, H., Meershoek-Klein Kranen

Journal:

Annals of Oncology

Année:

2015

Langue:

english

Fichier:

PDF, 349 KB

english, 2015

6

The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics

Mogensen, J., van Tintelen, J. P., Fokstuen, S., Elliott, P., van Langen, I. M., Meder, B., Richard, P., Syrris, P., Caforio, A. L. P., Adler, Y., Anastasakis, A., Gimeno, J. R., Klingel, K., Linhart,

Journal:

European Heart Journal

Année:

2015

Langue:

english

Fichier:

PDF, 65 KB

english, 2015

7

Nobrium®, Another Benzodiazepine Derivative 29 Months of Experience

Journal:

International Pharmacopsychiatry

Année:

1969

Langue:

english

Fichier:

PDF, 280 KB

english, 1969

8

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients

Fokstuen, Siv, Bottani, Armand, Medeiros, Paula F. V., Antonarakis, Stylianos E., Stoll, Claude, Schinzel, Albert

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 394 KB

english, 1997

9

The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

Claudia Ginsburg, Siv Fokstuen, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 154 KB

english, 2000

10

FOXL2-mutations in blepharophimosis-ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

Siv Fokstuen, Stylianos E. Antonarakis, Jean-Louis Blouin

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 92 KB

english, 2003

11

Prenatal diagnostic indicators of paternal uniparental disomy 14

Logos Curtis, Eric Antonelli, Yvan Vial, Peter Rimensberger, Martine Le Merrer, Christine Hinard, Armand Bottani, Siv Fokstuen

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 175 KB

english, 2006

12

Applications de l'hybridation in situ fluorescente (FISH) dans le diagnostic prénatal

G. Pescia, S. Fokstuen, F. Thonney

Journal:

Archives of Gynecology and Obstetrics

Année:

1994

Fichier:

PDF, 550 KB

1994

13

Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2

Siv Fokstuen, Karel Vrticka, Mariluce Riegel, Vinzent Da Silva, Alessandra Baumer, Albert Schinzel

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 80 KB

english, 2001

14

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

S. Fokstuen, U. Arbenz, S. Artan, F. Dutly, U. Bauersfeld, L. Brecevic, M. Fasnacht, B. Röthlisberger, A. Schinzel

Journal:

Clinical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 639 KB

english, 1998

15

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

Ambroise Wonkam, Philipe Extermann, Jacques Birraux, Siv Fokstuen

Journal:

Congenital Anomalies

Année:

2011

Langue:

english

Fichier:

PDF, 247 KB

english, 2011

16

Radiation therapy in the management of brain metastases from breast cancer

Tone Fokstuen, Nils Wilking, Lars Erik Rutqvist, Jeanette Wolke, Anette Liedberg, Toom Signomklao, Jan-Olof Fernberg

Journal:

Breast Cancer Research and Treatment

Année:

2000

Langue:

english

Fichier:

PDF, 52 KB

english, 2000

17

P11.15: Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14: the “coat-hanger” sign as a diagnostic clue

E. Antonelli, L. Curtis, P. Rimensberger, S. Fokstuen, O. Irion, Y. Vial

Journal:

Ultrasound in Obstetrics & Gynecology

Année:

2004

Langue:

english

Fichier:

PDF, 39 KB

english, 2004

18

P44.06: Prenatal diagnosis of a case of Wolf-Hirschhorn Syndrome

M. H. Billieux, S. Fokstuen, S. Dahoun, E. Antonelli, O. Irion

Journal:

Ultrasound in Obstetrics & Gynecology

Année:

2007

Langue:

english

Fichier:

PDF, 54 KB

english, 2007

19

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

Siv Fokstuen, Claudia Ginsburg, Milo Zachmann, Albert Schinzel

Journal:

The Journal of Pediatrics

Année:

1999

Langue:

english

Fichier:

PDF, 160 KB

english, 1999

20

Postoperative morbidity and mortality in relation to leukocyte counts and time to surgery after short-course preoperative radiotherapy for rectal cancer

Tone Fokstuen, Torbjörn Holm, Bengt Glimelius

Journal:

Radiotherapy and Oncology

Année:

2009

Langue:

english

Fichier:

PDF, 152 KB

english, 2009

21

290 Nordic 5-fluorouracil/folinic acid bolus schedule combined with oxaliplatin (FLOX) as first-line treatment to metastatic colorectal cancer

H. Sørbye, B. Glimelius, Å. Berglund, T. Fokstuen, K.M. Tveit, M. Braedengen, D. Øgreid, O. Dahl

Journal:

European Journal of Cancer Supplements

Année:

2003

Langue:

english

Fichier:

PDF, 170 KB

english, 2003

22

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

Fokstuen, S., Makrythanasis, P., Nikolaev, S., Santoni, F., Robyr, D., Munoz, A., Bevillard, J., Farinelli, L., Iseli, C., Antonarakis, S.E., Blouin, J.-L.

Journal:

Clinical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 195 KB

english, 2014

23

Elevated middle cerebral artery peak systolic velocity as a prenatal manifestation of heterozygous type 2 alpha-thalassemia

Gwanmesia, Lorraine M., Samii, Kaveh, Boulvain, Michel, Extermann, Philippe, Faigaux, Roland, Fokstuen, Siv

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2013

Langue:

english

Fichier:

PDF, 414 KB

english, 2013

24

Next generation diagnostics on cardiomyopathy

Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

Journal:

Molecular Cytogenetics

Année:

2014

Langue:

english

Fichier:

PDF, 73 KB

english, 2014

25

FCGR2AandFCGR3Apolymorphisms and clinical outcome in metastatic colorectal cancer patients treated with first-line 5-fluorouracil/folinic acid and oxaliplatin +/- cetuximab

Kjersem, Janne B, Skovlund, Eva, Ikdahl, Tone, Guren, Tormod, Kersten, Christian, Dalsgaard, Astrid M, Yilmaz, Mette K, Fokstuen, Tone, Tveit, Kjell M, Kure, Elin H

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 384 KB

english, 2014

26

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome

Fokstuen, Siv, Kotzot, Dieter

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 129 KB

english, 2014

27

Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells

Fokstuen, Siv, Binkert, Franz, Munoz, Analia, Erb, Niklaus, Dürig, Peter, Altermatt, Hans Jörg, Blouin, Jean-Louis, Kotzot, Dieter

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 281 KB

english, 2013

28

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Fokstuen, S., Munoz, A., Melacini, P., Iliceto, S., Perrot, A., Ozcelik, C., Jeanrenaud, X., Rieubland, C., Farr, M., Faber, L., Sigwart, U., Mach, F., Lerch, R., Antonarakis, S. E., Blouin, J.-L.

Journal:

Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 369 KB

english, 2011

29

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Journal:

Journal of Medical Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 175 KB

english, 2001

30

Unilateral lobar pulmonary agenesis in sibs

Journal:

Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 899 KB

english, 2000

31

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

Pierce, S. B., Spurrell, C. H., Mandell, J. B., Lee, M. K., Zeligson, S., Bereman, M. S., Stray, S. M., Fokstuen, S., MacCoss, M. J., Levy-Lahad, E., King, M.-C., Motulsky, A. G.

Journal:

Proceedings of the National Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2011

32

Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD)

Journal:

Molecular Human Reproduction

Année:

2000

Langue:

english

Fichier:

PDF, 40 KB

english, 2000

33

A randomized study comparing short-time infusion of oxaliplatin in combination with capecitabine XELOX30 and chronomodulated XELOX30 as first-line therapy in patients with advanced colorectal cancer

Qvortrup, C., Jensen, B. V., Fokstuen, T., Nielsen, S. E., Keldsen, N., Glimelius, B., Bjerregaard, B., Mejer, J., Larsen, F. O., Pfeiffer, P.

Journal:

Annals of Oncology

Année:

2010

Langue:

english

Fichier:

PDF, 182 KB

english, 2010

34

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

Journal:

Journal of Medical Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 995 KB

english, 2001

35

Myeloid Proliferation Without GATA1 Mutations in a Fetus with Down Syndrome Presenting In Utero as a Pericardial Effusion

Rougemont, Anne-Laure, Makrythanasis, Periklis, Finci, Vildana, Billieux, Marie-Hélène, Epiney, Manuella, McKee, Thomas A., Nizetic, Dean, Fokstuen, Siv

Journal:

Pediatric and Developmental Pathology

Année:

2010

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2010

36

Chronomodulated capecitabine in combination with short-time oxaliplatin: a Nordic phase II study of second-line therapy in patients with metastatic colorectal cancer after failure to irinotecan and 5-flourouracil

Qvortrup, C., Yilmaz, M., Ogreid, D., Berglund, A., Balteskard, L., Ploen, J., Fokstuen, T., Starkhammar, H., Sorbye, H., Tveit, K., Pfeiffer, P.

Journal:

Annals of Oncology

Année:

2008

Langue:

english

Fichier:

PDF, 114 KB

english, 2008

37

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

Sarah B. Pierce, Cailyn H. Spurrell, Jessica B. Mandell, Ming K. Lee, Sharon Zeligson, Michael S. Bereman, Sunday M. Stray, Siv Fokstuen, Michael J. MacCoss, Ephrat Levy-Lahad, Mary-Claire King and Ar

Journal:

Proceedings of the National Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2011

38

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome

Fluss, Joel, Pellegrinelli, Jean-Marie, Fokstuen, Siv, Moutard, Marie-Laure, Garel, Catherine, Bahi-Buisson, Nadia, Bilieux, Marie-Hélène, Hanquinet, Sylviane

Journal:

Neuropediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 121 KB

english, 2015

39

Assessment of testicular dose during preoperative radiotherapy for rectal cancer

Buchli, Christian, Al Abani, Massoud, Ahlberg, Madelene, Holm, Torbjörn, Fokstuen, Tone, Bottai, Matteo, Frödin, Jan-Erik, Lax, Ingmar, Martling, Anna

Journal:

Acta Oncologica

Année:

2016

Langue:

english

Fichier:

PDF, 862 KB

english, 2016

40

Defining categories of actionability for secondary findings in next-generation sequencing

Moret, Celine, Mauron, Alex, Fokstuen, Siv, Makrythanasis, Periklis, Hurst, Samia A

Journal:

Journal of Medical Ethics

Année:

2016

Langue:

english

Fichier:

PDF, 150 KB

english, 2016

41

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

S. Fokstuen,P. Makrythanasis,E. Hammar,M. Guipponi,E. Ranza…

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2016

42

412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders

Makrythanasis, P., Nelis, M., Santoni, F., Guipponi, M., Bena, F., Vanier, A., Duriaux-Sail, G., Gimelli, S., Stathaki, E., Falconnet, E., Temtamy, S., Megarbane, A., Aglan, M., Zaki, M., Fokstuen, S.

Journal:

Archives of Disease in Childhood

Année:

2012

Langue:

english

Fichier:

PDF, 595 KB

english, 2012

43

P3987Targeted exome sequencing for mendelian cardiac disorders within the Genome Clinic in Geneva

Fokstuen, S., Guipponi, M., Hammar, E.B., Makrythanasis, P., Meyer, P.H., Beghetti, M., Sekarski, N., Ranza, E., Lidgren, M., Santoni, F.A., Gehrig, C., Nouspikel, T.H., Antonarakis, S.E., Blouin, J.L

Journal:

European Heart Journal

Année:

2017

Langue:

english

Fichier:

PDF, 145 KB

english, 2017

44

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature

Belin, Sarah, Delco, Cristina, Parvex, Paloma, Hanquinet, Sylviane, Fokstuen, Siv, Martinez de Tejada, Begoña, Eperon, Isabelle

Journal:

Journal of Medical Case Reports

Année:

2019

Fichier:

PDF, 1.54 MB

2019

45

Compliance, acute toxicity and postoperative complications of short-course radiotherapy followed by chemotherapy and surgery for high-risk rectal cancer. results of the randomized RAPIDO-trial

van der Valk, Maxime, van Etten, Boudewijn, Marijnen, Corrie, Dijkstra, EsmÃ©e, Hilling, Denise, Klein Kranenbarg, Elma Meershoek-, Nilsson, Per, Putter, Hein, Roodvoets, Annet, Fokstuen, Tone, Jan te

Journal:

European Journal of Surgical Oncology (EJSO)

Année:

2020

Langue:

english

Fichier:

PDF, 153 KB

english, 2020

46

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabrieleâde Vries syndrome)

CarminhoâRodrigues, Maria Teresa, Steel, Dora, Sousa, Sergio B., Brandt, Gregor, Guipponi, Michel, Laurent, Sacha, Fokstuen, Siv, Moren, Aurea, Zacharia, AndrÃ©, Dirren, Elisabeth, Oliveira, Renata,

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Fichier:

PDF, 566 KB

2020