Vikkula, M : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (174)
Les plus populaires
Liste
- Liste
- Tableau

1

Chromosome instability is common in human cleavage-stage embryos

Vanneste, Evelyne, Voet, Thierry, Le Caignec, Cédric, Ampe, Michèle, Konings, Peter, Melotte, Cindy, Debrock, Sophie, Amyere, Mustapha, Vikkula, Miikka, Schuit, Frans, Fryns, Jean-Pierre, Verbeke, Gee

Journal:

Nature Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 631 KB

english, 2009

2

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis

Dachy, Guillaume, de Krijger, Ronald R., Fraitag, Sylvie, Théate, Ivan, Brichard, Bénédicte, Hoffman, Suma B., Libbrecht, Louis, Arts, Florence A., Brouillard, Pascal, Vikkula, Miikka, Limaye, Nisha,

Journal:

JAMA Dermatology

Année:

2019

Langue:

english

Fichier:

PDF, 279 KB

english, 2019

3

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

Rzem, R., Veiga-da-Cunha, M., Noel, G., Goffette, S., Nassogne, M.-C., Tabarki, B., Scholler, C., Marquardt, T., Vikkula, M., Van Schaftingen, E.

Journal:

Proceedings of the National Academy of Sciences

Année:

2004

Langue:

english

Fichier:

PDF, 515 KB

english, 2004

4

Micrometric segregation of fluorescent membrane lipids: relevance for endogenous lipids and biogenesis in erythrocytes

D'Auria, L., Fenaux, M., Aleksandrowicz, P., Van Der Smissen, P., Chantrain, C., Vermylen, C., Vikkula, M., Courtoy, P. J., Tyteca, D.

Journal:

The Journal of Lipid Research

Année:

2013

Langue:

english

Fichier:

PDF, 2.44 MB

english, 2013

5

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 711 KB

english, 2014

6

Methylation Analysis as a Tool for Structural Analysis of Wood Polysaccharides

Laine, C., Tamminen, T., Vikkula, A., Vuorinen, T.

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 132 KB

english, 2002

7

Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: a systematic review and meta-analysis of gene-panel data

van Marcke, C., Collard, A., Vikkula, M., Duhoux, F.P.

Journal:

Critical Reviews in Oncology/Hematology

Année:

2018

Langue:

english

Fichier:

PDF, 864 KB

english, 2018

8

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Hammer, Jennifer, Seront, Emmanuel, Duez, Steven, Dupont, Sophie, Van Damme, An, Schmitz, Sandra, Hoyoux, Claire, Chopinet, Caroline, Clapuyt, Philippe, Hammer, Frank, Vikkula, Miikka, Boon, Laurence

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2018

9

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

Christopher W. Carr, Holly H. Zimmerman, Christa Lese Martin, Miikka Vikkula, Adam C. Byrd, Omar A. Abdul-Rahman

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2011

10

Early-onset osteoarthritis linked to the type ii procollagen gene. detailed clinical phenotype and further analyses of the gene

Miikka Vikkula, Aarno Palotie, Pertti Ritvaniemi, JÜRg Ott, Leena Ala-Kokko, Ulla Sievers, Kimmo Aho, Leena Peltonen

Journal:

Arthritis & Rheumatism

Année:

1993

Langue:

english

Fichier:

PDF, 876 KB

english, 1993

11

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

Pertti Ritvaniemi, Jarmo Körkkö, Jacky Bonaventure, Miikka Vikkula, James Hyland, Petteri Paassilta, Ilkka Kaitila, Helena Kääriäinen, Boris P. Sokolov, Markku Hakala, Pertti Mannismäki, Elena M. Meer

Journal:

Arthritis & Rheumatism

Année:

1995

Langue:

english

Fichier:

PDF, 582 KB

english, 1995

12

Expression profiling of ependymomas unravels localization and tumor grade-specific tumorigenesis

Thomas Palm, Dominique Figarella-Branger, Françoise Chapon, Catherine Lacroix, Françoise Gray, Francesco Scaravilli, David W. Ellison, Isabelle Salmon, Miikka Vikkula, Catherine Godfraind

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 1.61 MB

english, 2009

13

A novel mutation in the SDHD gene in a family with inherited paragangliomas—implications of genetic diagnosis for follow up and treatment

Laurette Renard, Catherine Godfraind, Laurence M. Boon, Miikka Vikkula

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 188 KB

english, 2003

14

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 Gene

Ilse Gutierrez-Roelens, Thierry Sluysmans, Marc Gewillig, Koen Devriendt, Miikka Vikkula

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 569 KB

english, 2002

15

Vascular malformations: localized defects in vascular morphogenesis

P Brouillard, M Vikkula

Journal:

Clinical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2003

16

CDKN2A, CDKN2B and p14 ARF are frequently and differentially methylated in ependymal tumours

E. Rousseau, M.-M. Ruchoux, F. Scaravilli, F. Chapon, M. Vinchon, C. De Smet, C. Godfraind, M. Vikkula

Journal:

Neuropathology and Applied Neurobiology

Année:

2003

Langue:

english

Fichier:

PDF, 466 KB

english, 2003

17

Tumour necrosis and microvascular proliferation are associated with 9p deletion and CDKN2A alterations in 1p/19q-deleted oligodendrogliomas

C. Godfraind, E. Rousseau, M.-M. Ruchoux, F. Scaravilli, M. Vikkula

Journal:

Neuropathology and Applied Neurobiology

Année:

2003

Langue:

english

Fichier:

PDF, 382 KB

english, 2003

18

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

Etty Daniel-Spiegel, Arash Ghalamkarpour, Ronen Spiegel, Ehud Weiner, Miikka Vikkula, Eliezer Shalev, Stavit Alon Shalev

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 110 KB

english, 2005

19

A novel mutation in theMSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly

Michella Ghassibé, Vincent Bernier, Laurence M. Boon, Miikka Vikkula

Journal:

European Journal of Pediatrics

Année:

2006

Langue:

english

Fichier:

PDF, 109 KB

english, 2006

20

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation inVEGFR3

Ronen Spiegel, Arash Ghalamkarpour, Etty Daniel-Spiegel, Miikka Vikkula, Stavit A Shalev

Journal:

Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 163 KB

english, 2006

21

The formation of LC and other aromatic end-group structures inO-alkyl-substituted cellulose during kraft pulping conditions

Anne Vikkula, Tapani Vuorinen

Journal:

Journal of Wood Science

Année:

2007

Langue:

english

Fichier:

PDF, 300 KB

english, 2007

22

Formation of Aromatic and Other Unsaturated End Groups in Carboxymethyl Cellulose During Hot Alkaline Treatment

Anne Vikkula, Jukka Valkama, Tapani Vuorinen

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 261 KB

english, 2006

23

Severe congenital lymphoedema not caused by mutations in known lymphoedema genes

S. Greenberger, H. Reznik-Wolf, A. Ghalamkarpour, D. Marek-Yagel, M. Vikkula, E. Pras

Journal:

British Journal of Dermatology

Année:

2010

Langue:

english

Fichier:

PDF, 222 KB

english, 2010

24

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

A Ghalamkarpour, S Morlot, A Raas-Rothschild, A Utkus, JB Mulliken, LM Boon, M Vikkula

Journal:

Clinical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 351 KB

english, 2006

25

Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites

Elisa Goujon, Kelly M. Cordoro, Muriel Barat, Thierry Rousseau, Pascal Brouillard, Miikka Vikkula, Ilona J. Frieden, Pierre Vabres

Journal:

Pediatric Dermatology

Année:

2011

Langue:

english

Fichier:

PDF, 334 KB

english, 2011

26

Vascular anomalies

Journal:

Experimental Dermatology

Année:

2007

Langue:

english

Fichier:

PDF, 52 KB

english, 2007

27

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

Limaye, Nisha, Wouters, Vinciane, Uebelhoer, Melanie, Tuominen, Marjut, Wirkkala, Riikka, Mulliken, John B, Eklund, Lauri, Boon, Laurence M, Vikkula, Miikka

Journal:

Nature Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2008

28

Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma

Liu, Yanqiu, Boscolo, Elisa, Bischoff, Joyce, Vikkula, Miikka, Boye, Eileen, Olsen, Bjorn R, Jinnin, Masatoshi, Medici, Damian, Park, Lucy, Limaye, Nisha

Journal:

Nature Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 721 KB

english, 2008

29

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

Veiga-da-Cunha, Maria, Gerin, Isabelle, Chen, Yuan-Tsong, Lee, Philip J, Leonard, James V, Maire, Irène, Wendel, Udo, Vikkula, Miikka, Van Schaftingen, Emile

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 214 KB

english, 1999

30

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC

Irrthum, Alexandre, Brouillard, Pascal, Enjolras, Odile, Gibbs, Neil F, Eichenfield, Lawrence F, Olsen, Bjorn R, Mulliken, John B, Boon, Laurence M, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 392 KB

english, 2001

31

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

Eerola, Iiro, Boon, Laurence M, Watanabe, Shoji, Grynberg, Henri, Mulliken, John B, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 360 KB

english, 2002

32

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

Ghassibé, Michella, Bayet, Benedicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Gillerot, Yves, Vanwijck, Romain, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 80 KB

english, 2005

33

Localization of candidate regions for a novel gene for Kartagener syndrome

Gutierrez-Roelens, Ilse, Sluysmans, Thierry, Jorissen, Mark, Amyere, Mustapha, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 169 KB

english, 2006

34

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

Gutierrez-Roelens, Ilse, Roy, Luc De, Ovaert, Caroline, Sluysmans, Thierry, Devriendt, Koen, Brunner, Han G, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 97 KB

english, 2006

35

Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response

Korpelainen, Eija I, Kärkkäinen, Marika, Gunji, Yuji, Vikkula, Miikka, Alitalo, Kari

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 410 KB

english, 1999

36

Cerebrovascular disorders: molecular insights and therapeutic opportunities

Storkebaum, Erik, Quaegebeur, Annelies, Vikkula, Miikka, Carmeliet, Peter

Journal:

Nature Neuroscience

Année:

2011

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2011

37

Formation of Lignin Monomers during Alkaline Delignification of Softwood

Alén, Raimo, Vikkula, Anne

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 1.10 MB

english, 1989

38

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation

Matthew G. Butler, Susan L. Dagenais, José L. Garcia-Perez, Pascal Brouillard, Miikka Vikkula, Peter Strouse, Jeffrey W. Innis, Thomas W. Glover

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 768 KB

english, 2012

39

Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

Anne Dompmartin, Xavier Blaizot, Jacques Théron, Frank Hammer, Yannick Chene, Daniel Labbé, Marie-Thérèse Barrellier, Cathy Gaillard, Robert Leroyer, Valérie Chedru, Catherine Ollivier, Miikka Vikkula

Journal:

European Radiology

Année:

2011

Langue:

english

Fichier:

PDF, 705 KB

english, 2011

40

Psychiatric disturbance in patients with oral lichen planus

B.Göran C. Hampf, Maria J. Malmström, Veikko A. Aalberg, Jorma A. Hannula, Juhani Vikkula

Journal:

Oral Surgery, Oral Medicine, Oral Pathology

Année:

1987

Langue:

english

Fichier:

PDF, 372 KB

english, 1987

41

Pathogénie et génétique des anomalies vasculaires

Journal:

Annales de Chirurgie Plastique Esthétique

Année:

2006

Fichier:

PDF, 142 KB

2006

42

Les malformations veineuses : aspects cliniques et diagnostic différentiel

D. Casanova, L.-M. Boon, M. Vikkula

Journal:

Annales de Chirurgie Plastique Esthétique

Année:

2006

Langue:

french

Fichier:

PDF, 1.41 MB

french, 2006

43

Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2

Arash Ghalamkarpour, Christian Debauche, Eric Haan, Nicole Van Regemorter, Yves Sznajer, Dominique Thomas, Nicole Revencu, Yves Gillerot, Laurence M. Boon, Miikka Vikkula

Journal:

The Journal of Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 184 KB

english, 2009

44

Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse

Brendan A.S McIntyre, Pascal Brouillard, Virginie Aerts, Ilse Gutierrez-Roelens, Miikka Vikkula

Journal:

Gene Expression Patterns

Année:

2004

Langue:

english

Fichier:

PDF, 954 KB

english, 2004

45

Lack of glomulin, a specific marker of vascular smooth muscle cell differentiation, causes glomuvenous malformations

P. Brouillard, B.A.S. McIntyre, L.M. Boon, V.S. Vassilev, J.B. Mulliken, M. Vikkula

Journal:

Vascular Pharmacology

Année:

2006

Langue:

english

Fichier:

PDF, 65 KB

english, 2006

46

Glomulin is a specific marker of vascular smooth muscle cell differentiation

M. Amyere, Mc Intyre, P. Brouillard, Vassilev, L.M. Boon, J.B. Mulliken, M. Vikkula

Journal:

Vascular Pharmacology

Année:

2006

Langue:

english

Fichier:

PDF, 53 KB

english, 2006

47

Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

Iiro Eerola, Brendan McIntyre, Miikka Vikkula

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Année:

2001

Langue:

english

Fichier:

PDF, 360 KB

english, 2001

48

Molecular Basis of Vascular Anomalies

Miikka Vikkula, Laurence M. Boon, John B. Mulliken, Bjorn R. Olsen

Journal:

Trends in Cardiovascular Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 1.49 MB

english, 1998

49

Screening of Pharmacological Agents Given Peripherally with Respect to TCDD-Induced Wasting Syndrome in Long-Evans Rats

Raimo Pohjanvirta, Jouko Tuomisto, Kaarina Vikkula

Journal:

Basic & Clinical Pharmacology & Toxicology

Année:

1988

Langue:

english

Fichier:

PDF, 777 KB

english, 1988

50

Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

Ghalamkarpour, A, Holnthoner, W, Saharinen, P, Boon, L M, Mulliken, J B, Alitalo, K, Vikkula, M

Journal:

Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2009