Vanakker, O. M: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke, Anne De Paepe

Journal:

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

2

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?

Olivier M. Vanakker, Bart P. Leroy, Leon J. Schurgers, Cees Vermeer, Paul J. Coucke, Anne De Paepe

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 181 KB

english, 2011

3

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

Hosen, Mohammad J, Coucke, Paul J, Le Saux, Olivier, De Paepe, Anne, Vanakker, Olivier M

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.31 MB

english, 2014

4

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Acke, Frederic R., Malfait, Fransiska, Vanakker, Olivier M., Steyaert, Wouter, De Leeneer, Kim, Mortier, Geert, Dhooge, Ingeborg, De Paepe, Anne, De Leenheer, Els M.R., Coucke, Paul J.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 632 KB

english, 2014

5

Cellular signaling in pseudoxanthoma elasticum: an update

Van Gils, M., Nollet, L., Verly, Ewout, Deianova, N., Vanakker, O.M.

Journal:

Cellular Signalling

Year:

2019

Language:

english

File:

PDF, 1.52 MB

english, 2019

6

Chikungunya outbreak in Bangladesh (2017): Clinical and hematological findings

Anwar, Saeed, Taslem Mourosi, Jarin, Khan, Md. Fahim, Ullah, Mohammad Ohid, Vanakker, Olivier M., Hosen, Mohammad Jakir, Day, Nicholas P.

Journal:

PLoS Neglected Tropical Diseases

Year:

2020

Language:

english

File:

PDF, 3.51 MB

english, 2020

7

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Verschuere, Shana, Navassiolava, Nastassia, Martin, Ludovic, Nevalainen, Pasi I., Coucke, Paul J., Vanakker, Olivier M.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 568 KB

2020

8

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Olivier M. Vanakker, Bart P. Leroy, Paul Coucke, Lionel G. Bercovitch, Jouni Uitto, Dennis Viljoen, Sharon F. Terry, Petra Van Acker, Dirk Matthys, Bart Loeys, Anne De Paepe

Journal:

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

9

Use of an event recorder in the decision for pacemaker implantation in a child with syncope

Henri A. Verhaaren, Olivier Vanakker, Rudy Coster, Daniel Wolf, Katrien François, Dirk Matthys

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 71 KB

english, 2002

10

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

Vanakker, Olivier M, Martin, Ludovic, Schurgers, Leon J, Quaglino, Daniela, Costrop, Laura, Vermeer, Cees, Pasquali-Ronchetti, Ivonne, Coucke, Paul J, De Paepe, Anne

Journal:

Laboratory Investigation

Year:

2010

Language:

english

File:

PDF, 552 KB

english, 2010

11

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Vanakker, Olivier M, Martin, Ludovic, Gheduzzi, Dealba, Leroy, Bart P, Loeys, Bart L, Guerci, Veronica I, Matthys, Dirk, Terry, Sharon F, Coucke, Paul J, Pasquali-Ronchetti, Ivonne

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 223 KB

english, 2006

12

Functional Polymorphism in Gamma-Glutamylcarboxylase is a Risk Factor for Severe Neonatal Hemorrhage

Olivier M. Vanakker, Kris De Coen, Laura Costrop, Paul J. Coucke, Piet Vanhaesebrouck, Anne De Paepe

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 212 KB

english, 2011

13

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G.H. Lee, Aicha Salhi, Sheila Unger, Ketil He

Journal:

Year:

2012

Language:

english

File:

PDF, 775 KB

english, 2012

14

Weevil resistance of progeny derived from putatively resistant and susceptible interior spruce parents

René I. Alfaro, Lara vanAkker, Barry Jaquish, John King

Journal:

Forest Ecology and Management

Year:

2004

Language:

english

File:

PDF, 204 KB

english, 2004

15

Acquired pseudoxanthoma elasticum presenting after liver transplantation

Lionel Bercovitch, Ludovic Martin, Nicolas Chassaing, Timothy W. Hefferon, Didier Bessis, Olivier Vanakker, Sharon F. Terry

Journal:

Journal of the American Academy of Dermatology

Year:

2011

Language:

english

File:

PDF, 377 KB

english, 2011

16

Reply to the article of C. Markello et al. entitled “Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum”

Georges Lefthériotis, Olivier Vanakker, Olivier Le Saux, Ludovic Martin

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 186 KB

english, 2011

17

Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature

Henri A Verhaaren, Olivier Vanakker, Daniel De Wolf, Bert Suys, Katrien François, Dirk Matthys

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 134 KB

english, 2003

18

P1.14 Overt myopathy in Ehlers–Danlos syndrome caused by tenascin-X deficiency: extending the clinical spectrum and refining the muscle pathology

I. Pénisson-Besnier, V. Allamand, P. Beurrier, L. Martin, L. Macchi, D. Bonneau, P. Marcorelles, B. Arbeille, A. Croué, J. Schalkwijk, O.M. Vanakker, F. Dubas

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

19

Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaek

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 520 KB

english, 2014

20

Lambert–Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication

Verbeek, Sabine, Vanakker, Olivier, Mercelis, Rudy, Lipka, A.F., Haerynck, Filomeen, Dullaers, Melissa, Verloo, Patrick, Van Coster, Rudy, Verhelst, Helene

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 669 KB

english, 2014

21

Cutis laxa acquise associée à une gammapathie monoclonale chez un patient porteur d’une mutation du gène de l’élastine

Urbanski, G., Dib, M., Simon, A., Croué, A., Arbeille, B., Vanakker, O., Ifrah, N., Martin, L.

Journal:

La Revue de Médecine Interne

Year:

2013

Language:

french

File:

PDF, 72 KB

french, 2013

22

P304 – 1516 Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication

Verbeek, S, Vanakker, O, Mercelis, R, Haerynck, F, Dullaers, M, Van Coster, R, Verhelst, H

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

23

Cutis laxa acquise associée à une gammapathie monoclonale chez un patient porteur d’une mutation du gène de l’élastine

Urbanski, G., Dib, M., Simon, A., Croué, A., Arbeille, B., Callewaert, B., Vanakker, O., Ifrah, N., Martin, L.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2012

Language:

french

File:

PDF, 99 KB

french, 2012

24

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Vergult, Sarah, Van Binsbergen, Ellen, Sante, Tom, Nowak, Silke, Vanakker, Olivier, Claes, Kathleen, Poppe, Bruce, Van der Aa, Nathalie, van Roosmalen, Markus J, Duran, Karen, Tavakoli-Yaraki, Masoume

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.38 MB

english, 2014

25

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Oehl-Jaschkowitz, Barbara, Vanakker, Olivier M., De Paepe, Anne, Menten, Björn, Martin, Thomas, Weber, Georg, Christmann, Alexander, Krier, Romain, Scheid, Simone, McNerlan, Susan E., McKee, Shane, Tz

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 819 KB

english, 2014

26

Effects of fertilization on resin canal defences and incidence of Pissodes strobi attack in interior spruce

vanAkker, Lara, Alfaro, René I, Brockley, Robert

Journal:

Canadian Journal of Forest Research

Year:

2004

File:

PDF, 822 KB

2004

27

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

Pangrazio, Alessandra, Fasth, Anders, Sbardellati, Andrea, Orchard, Paul J, Kasow, Kimberly A, Raza, Jamal, Albayrak, Canan, Albayrak, Davut, Vanakker, Olivier M, De Moerloose, Barbara, Vellodi, Ashok

Journal:

Journal of Bone and Mineral Research

Year:

2013

Language:

english

File:

PDF, 1.20 MB

english, 2013

28

Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum

Janssen, Alexander, Hosen, Mohammad J., Jeannin, Philippe, Coucke, Paul J., De Paepe, Anne, Vanakker, Olivier M.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 692 KB

english, 2013

29

Pseudoxanthome élastique (PXE) associé à un digénisme ABCC6/GCCX

Etienne, M., Hosen, M., Leftheriotis, G., Ebran, J.-M., De Maistre, E., Vanakker, O., Martin, L.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2014

Language:

french

File:

PDF, 61 KB

french, 2014

30

Syndrome sclérodermiforme monomélique au cours d’un syndrome de Buschke Ollendorff

Reymann, V., Vanakker, O., Bessis, D.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2014

Language:

french

File:

PDF, 62 KB

french, 2014

31

Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations

Kariminejad, Ariana, Bozorgmehr, Bita, Najafi, Abdolhamid, Khoshaeen, Atefeh, Ghalandari, Maryam, Najmabadi, Hossein, Kariminejad, Mohamad H, Vanakker, Olivier M, Hosen, Mohammad J, Malfait, Fransiska

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 3.57 MB

english, 2014

32

Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Pfendner, E. G, Vanakker, O. M, Terry, S. F, Vourthis, S., McAndrew, P. E, McClain, M. R, Fratta, S., Marais, A.-S., Hariri, S., Coucke, P. J, Ramsay, M., Viljoen, D., Terry, P. F, De Paepe, A., Uitto

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 360 KB

english, 2007

33

Redefining the MED13L syndrome

Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, D'

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 829 KB

english, 2015

34

Pseudoxanthoma Elasticum with Generalized Retinal Dysfunction, a Common Finding?

Audo, Isabelle, Vanakker, Olivier M., Smith, Alaric, Leroy, Bart P., Robson, Anthony G., Jenkins, Sharon A., Coucke, Paul J., Bird, Alan C., De Paepe, Anne, Holder, Graham E., Webster, Andrew R.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2007

Language:

english

File:

PDF, 521 KB

english, 2007

35

Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families

Campens, L., Vanakker, O. M., Trachet, B., Segers, P., Leroy, B. P., De Zaeytijd, J., Voet, D., De Paepe, A., De Backer, T., De Backer, J.

Journal:

Arteriosclerosis Thrombosis and Vascular Biology

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

36

Clinical Zinc Deficiency as Early Presentation of Wilson Disease

Van Biervliet, Stephanie, Küry, Sébastien, De Bruyne, Ruth, Vanakker, Olivier M., Schmitt, Sébastien, Vande Velde, Saskia, Blouin, Eric, Bézieau, Stéphane

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2015

Language:

english

File:

PDF, 92 KB

english, 2015

37

The Genetics of Soft Connective Tissue Disorders

Vanakker, Olivier, Callewaert, Bert, Malfait, Fransiska, Coucke, Paul

Journal:

Annual Review of Genomics and Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.34 MB

english, 2015

38

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

De Zaeytijd, J., Vanakker, O. M., Coucke, P. J., De Paepe, A., De Laey, J. J., Leroy, B. P.

Journal:

British Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 1.80 MB

english, 2010

39

Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues

Hosen, Mohammad J., Lamoen, Anouck, De Paepe, Anne, Vanakker, Olivier M.

Journal:

Year:

2012

Language:

english

File:

PDF, 5.11 MB

english, 2012

40

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Vanakker, O. M., De Paepe, A.

Journal:

International Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

41

Acral Acquired Cutis Laxa Associated with IgA Multiple Myeloma, Joint Hyperlaxity and Urticarial Neutrophilic Dermatosis

Kluger, N, Molès, J, Vanakker, O, Pernet, C, Beylot-Barry, M, Bessis, D

Journal:

Acta Dermato Venereologica

Year:

2014

Language:

english

File:

PDF, 1.91 MB

english, 2014

42

Characteristics of forest legacies following two mountain pine beetle outbreaks in British Columbia, Canada.

Alfaro, René I., vanAkker, Lara, Hawkes, Brad

Journal:

Canadian Journal of Forest Research

Year:

2015

Language:

english

File:

PDF, 2.39 MB

english, 2015

43

PP13.9 – 2836: Variants in the NR3C2 gene as possible genetic predisposition for the development of multiple sclerosis

Verhelst, H., Mets, G., Verloo, P., D'Hooghe, M., Symons, A., Nagels, G., Menten, B., Debruyne, J., Van Coster, R., Vanakker, O.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 84 KB

english, 2015

44

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M

Journal:

The Journal of Investigative Dermatology

Year:

2015

Language:

english

File:

PDF, 875 KB

english, 2015

45

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Costrop, Laura MF, Vanakker, Olivier OM, Van Laer, Lut, Le Saux, Olivier, Martin, Ludovic, Chassaing, Nicolas, Guerra, Deanna, Ronchetti, Ivonne Pasquali-, Coucke, Paul J, De Paepe, Anne

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 485 KB

english, 2010

46

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Vanakker, O M, Voet, D, Petrovic, M, van Robaeys, F, Leroy, B P, Coucke, P, de Paepe, A

Journal:

British Journal of Radiology

Year:

2006

Language:

english

File:

PDF, 221 KB

english, 2006

47

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene

Tan, M H, Vanakker, O M, Tran, H V, Robson, A G, Lai-Cheong, J E, Groves, R, Holder, G E, Moore, A T

Journal:

Year:

2012

Language:

english

File:

PDF, 340 KB

english, 2012

48

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Brampton, Christopher, Yamaguchi, Yukiko, Vanakker, Olivier, Van Laer, Lut, Chen, Li-Hsieh, Thakore, Manoj, De Paepe, Anne, Pomozi, Viola, Szabó, Pál T., Martin, Ludovic, Váradi, András, Le Saux, Oliv

Journal:

Year:

2011

Language:

english

File:

PDF, 3.51 MB

english, 2011

49

Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

Boraldi, Federica, Costa, Sonia, Rabacchi, Claudio, Ciani, Miriam, Vanakker, Olivier, Quaglino, Daniela

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 479 KB

english, 2014

50

Phenotype of a Belgian Family With 6p25 Deletion Syndrome

Weegerink, N. J. D., Swinnen, F. K. R., Vanakker, O. M., Casselman, J. W., Dhooge, I. J. M.

Journal:

Annals of Otology, Rhinology & Laryngology

Year:

2016

Language:

english

File:

PDF, 642 KB

english, 2016