Mannens, Marcel M. A: search on Z-Library

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1

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Paulien Terhal, Marie-José van den Bogaard, Saskia Maas, Ben Hamel, Georgette Salieb-Beugelaar, Marleen Simon, Tom Letteboer, Jasper van der Smagt, Hester Kroes, Marcel Mannens

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 485 KB

english, 2006

2

Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors

Mannens, Marcel, Alders, Marielle, Redeker, Bert, Bliek, Jet, Steenman, Marja, Wiesmeyer, Carien, de Meulemeester, Maurice, Ryan, Andy, Kalikin, Linda, Voûte, Tom, De Kraker, Jan, Hoovers, Jan, Slater

Journal:

Medical and Pediatric Oncology

Year:

1996

Language:

english

File:

PDF, 478 KB

english, 1996

3

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

Jeroen P.P. Smits, Tamara T. Koopmann, Ronald Wilders, Marieke W. Veldkamp, Tobias Opthof, Zahir A. Bhuiyan, Marcel M.A.M. Mannens, Jeffrey R. Balser, Hanno L. Tan, Connie R. Bezzina, Arthur A.M. Wild

Journal:

Journal of Molecular and Cellular Cardiology

Year:

2005

Language:

english

File:

PDF, 717 KB

english, 2005

4

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

M Paola Lombardi, Egbert Jw Redeker, Joep C Defesche, Sylvia Wa Kamerling, Mieke D Trip, Marcel Mam Mannens, Louis M Havekes, John Jp Kastelein

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 231 KB

english, 2000

5

Genetic susceptibility for cow’s milk allergy in Dutch children: the start of the allergic march?

Henneman, Peter, Petrus, Nicole C. M., Venema, Andrea, van Sinderen, Femke, van der Lip, Karin, Hennekam, Raoul C., Mannens, Marcel, Sprikkelman, Aline B.

Journal:

Clinical and Translational Allergy

Year:

2016

Language:

english

File:

PDF, 1.04 MB

english, 2016

6

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

Maas, Saskia M., Vansenne, Fleur, Kadouch, Daniel J. M., Ibrahim, Abdulla, Bliek, Jet, Hopman, Saskia, Mannens, Marcel M., Merks, Johannes H. M., Maher, Eamonn R., Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 433 KB

english, 2016

7

Cow’s milk allergy in Dutch children: an epigenetic pilot survey

Petrus, Nicole C. M., Henneman, Peter, Venema, Andrea, Mul, Adri, van Sinderen, Femke, Haagmans, Martin, Mook, Olaf, Hennekam, Raoul C., Sprikkelman, Aline B., Mannens, Marcel

Journal:

Clinical and Translational Allergy

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

8

Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event

Henderson, Howard E., Bijvoet, Saskia M., Mannens, Marcel A.M.M., Bruin, Taco, Erkelens, D. Willem, Hayden, Michael R., Kastelein, Johannes J.P.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 154 KB

english, 1998

9

Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy

Vermeer, Alexa M. C., Janssen, Anneloes, Boorsma, Peter C., Mannens, Marcel M. A. M., Wilde, Arthur A. M., Christiaans, Imke

Journal:

Year:

2017

Language:

english

File:

PDF, 854 KB

english, 2017

10

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 3.94 MB

2020

11

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

Marielle Alders, Tamara T. Koopmann, Imke Christiaans, Pieter G. Postema, Leander Beekman, Michael W.T. Tanck, Katja Zeppenfeld, Peter Loh, Karel T. Koch, Sophie Demolombe, Marcel M.A.M. Mannens, Conn

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.20 MB

english, 2009

12

AB47-5

Van Tintelen, J. Peter, Entius, Mark M., Bhuiyan, Zahir, Jongbloed, Roselie, Wiesfeld, Ans C.P., Van der Smagt, Jasper, Mannens, Marcel M., Hofstra, Robert M.W., Otterspoor, Luuk, Doevendans, Pieter A

Journal:

Year:

2006

Language:

english

File:

PDF, 66 KB

english, 2006

13

Hennekam syndrome can be caused byFAT4mutations and be allelic to Van Maldergem syndrome

Alders, Mariëlle, Al-Gazali, Lihadh, Cordeiro, Isabelle, Dallapiccola, Bruno, Garavelli, Livia, Tuysuz, Beyhan, Salehi, Faranak, Haagmans, Martin A., Mook, Olaf R., Majoie, Charles B., Mannens, Marcel

Journal:

Year:

2014

Language:

english

File:

PDF, 483 KB

english, 2014

14

Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3

Alex V. Postma, Connie R. Bezzina, Jeltje F. de Vries, Arthur A. M. Wilde, Antoon F. M. Moorman, Marcel M. A. M. Mannens

Journal:

Year:

2000

Language:

english

File:

PDF, 93 KB

english, 2000

15

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies

van den Bogaard, Ruud, Fijen, Cees AP, Schipper, Mariëtte GJ, de Galan, Louis, Kuijper, Ed J, Mannens, Marcel MAM

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 136 KB

english, 2000

16

Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

Bhuiyan, Zahurul A., Momenah, Tarek S., Gong, Qiuming, Amin, Ahmad S., Ghamdi, Saleh Al, Carvalho, Julene S., Homfray, Tessa, Mannens, Marcel M.A.M., Zhou, Zhengfeng, Wilde, Arthur A.M.

Journal:

Year:

2008

Language:

english

File:

PDF, 3.20 MB

english, 2008

17

Efficient Molecular Diagnostic Strategy for ABCC6 in Pseudoxanthoma Elasticum

Hu, Xiaofeng, Plomp, Astrid, Gorgels, Theo, Ten Brink, Jacoline, Loves, Willem, Mannens, Marcel, De Jong, Paulus T.V.M., Bergen, Arthur A.B.

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

18

10.1038/12618

Schott, Jean-Jacques, Alshinawi, Connie, Kyndt, Florence, Probst, Vincent, Hoorntje, Theo M., Hulsbeek, Miriam, Wilde, Arthur A.M., Escande, Denis, Mannens, Marcel M.A.M., Le Marec, Hervé

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

19

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 526 KB

english, 2009

20

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)

Jet Bliek, Christine Gicquel, Saskia Maas, Véronique Gaston, Yves le Bouc, Marcel Mannens

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

21

Whole-Genome DNA Methylation Profiling of CD14+ Monocytes Reveals Disease Status and Activity Differences in Crohnâs Disease Patients

Li Yim, Andrew Y.F., Duijvis, Nicolette W., Ghiboub, Mohammed, Sharp, Catriona, Ferrero, Enrico, Mannens, Marcel M.A.M., DâHaens, Geert R., de Jonge, Wouter J., te Velde, Anje A., Henneman, Peter

Journal:

Journal of Clinical Medicine

Year:

2020

File:

PDF, 2.42 MB

2020

22

The human genome project: Deciphering the blueprint of heredity: edited by Necia Grant Cooper W.H. Freeman & Co., 1994. £27.95 hbk (362 pages) ISBN 0 935702 29 6

Journal:

Trends in Genetics

Year:

1995

Language:

english

File:

PDF, 470 KB

english, 1995

23

Tumor suppressor genes in neuroblastoma

Rogier Versteeg, Huib Caron, Peter van Sluis, Alvin Chan, Nadine van Roy, Ngan Ching Cheng, Marcel Mannens, Geneviève Laurey, Rosalyn Slater, Frank Speleman, Andries Westerveld

Journal:

Cancer Genetics and Cytogenetics

Year:

1992

Language:

english

File:

PDF, 94 KB

english, 1992

24

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

Fantes, Judy, Redeker, Bert, Breen, Matthew, Boyle, Shelagh, Brown, John, Fletcher, Judy, Jones, Sinead, Bickmore, Wendy, Fukushima, Yoshimitsu, Mannens, Marcel, Danes, Sarah, van Heyningen, Veronica,

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 733 KB

english, 1995

25

Epigenotype, Phenotype, and Tumors in Patients with Isolated Hemihyperplasia

Jet Bliek, Saskia Maas, Mariel Alders, Johannes H.M. Merks, Marcel Mannens

Journal:

The Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 324 KB

english, 2008

26

F100GENOME-WIDE DNA METHYLATION DIFFERENCES AND THEIR RELATIONSHIP WITH NEURAL ABNORMALITIES IN YOUTH WITH AND WITHOUT POSTTRAUMATIC STRESS DISORDER

Ensink, Judith, Keding, Taylor J., Henneman, Peter, Zantvoord, Jasper, Middeldorp, Christel M., Mannens, Marcel M.A.M., Herringa, Ryan J., Lindauer, Ramón J.L.

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 72 KB

english, 2019

27

A locus for hereditary capillary malformations mapped on chromosome 5q

Corstiaan C. Breugem, Marielle Alders, Georgette B. Salieb-Beugelaar, Marcel M. Mannens, Chantal M. Van Der Horst, Raoul C. Hennekam

Journal:

Year:

2002

Language:

english

File:

PDF, 121 KB

english, 2002

28

New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands

Florijn, Ralph J, Loves, Willem, Maillette de Buy Wenniger-Prick, Liesbeth J J M, Mannens, Marcel M A M, Tijmes, Nel, Brooks, Simon P, Hardcastle, Alison J, Bergen, Arthur A B

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

29

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome: A Comprehensive Open Reading Frame Mutational Analysis

Argelia Medeiros-Domingo, Zahurul A. Bhuiyan, David J. Tester, Nynke Hofman, Hennie Bikker, J. Peter van Tintelen, Marcel M.A.M. Mannens, Arthur A.M. Wilde, Michael J. Ackerman

Journal:

Journal of the American College of Cardiology

Year:

2009

Language:

english

File:

PDF, 885 KB

english, 2009

30

Mutation update for the PORCN gene

Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel,

Journal:

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

31

Clinical and Genetic Analysis of Long QT Syndrome in Children from Six Families in Saudi Arabia: Are They Different?

Zahurul A. Bhuiyan, Safar Al-Shahrani, Ayman S. Al-Khadra, Saleh Al-Ghamdi, Khalaf Al-Khalaf, Marcel M. A. M. Mannens, Arthur A. M. Wilde, Tarek S. Momenah

Journal:

Pediatric Cardiology

Year:

2009

Language:

english

File:

PDF, 680 KB

english, 2009

32

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 203 KB

english, 2014

33

Higher Polygenetic Predisposition for Asthma in Cow’s Milk Allergic Children

Jansen, Philip, Petrus, Nicole, Venema, Andrea, Posthuma, Danielle, Mannens, Marcel, Sprikkelman, Aline, Henneman, Peter

Journal:

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

34

Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis

Estelle Austruy, Sophie Candon, Isabelle Henry, Gabor Gyapay, Marie-France Tournade, Marcel Mannens, David Callen, Claudine Junien, Cécile Jeanpierre

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 760 KB

english, 1995

35

A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22

ZAHURUL A. BHUIYAN, MOHAMED A. HAMDAN, EMAN T.A. SHAMSI, ALEX V. POSTMA, MARCEL M.A.M. MANNENS, ARTHUR A. M. WILDE, LIHADH AL-GAZALI

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

36

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

Zahurul A. Bhuiyan, Tarek S. Momenah, Ahmad S. Amin, Ayman S. Al-Khadra, Marielle Alders, Arthur A.M. Wilde, Marcel M.A.M. Mannens

Journal:

Progress in Biophysics and Molecular Biology

Year:

2008

Language:

english

File:

PDF, 624 KB

english, 2008

37

Growth regulation of extraembryonic tissues: The effect of genomic imprinting on development of the placenta

Cees Oudejans, Bart Westerman, Eef van Elk, Andrea Könst, Monique Mulders, Marielle Alders, John van Vugt, Inge van Wijk, Marcel Mannens

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

1997

Language:

english

File:

PDF, 273 KB

english, 1997

38

NTCP deficiency and persistently raised bile salts: an adult case

Van Herpe, Filip, Waterham, Hans R., Adams, Christopher J., Mannens, Marcel, Bikker, Hennie, Vaz, Frédéric M., Cassiman, David

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 435 KB

english, 2017

39

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

Vos, Niels, Oussaada, Sabrina M., Cooiman, Mellody I., Kleinendorst, Lotte, ter Horst, Kasper W., Hazebroek, Eric J., Romijn, Johannes A., Serlie, Mireille J., Mannens, Marcel M. A. M., van Haelst, Mi

Journal:

Current Diabetes Reports

Year:

2020

File:

PDF, 514 KB

2020

40

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis

Alders, Marielle, Bliek, Jet, vd Lip, Karin, vd Bogaard, Ruud, Mannens, Marcel

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 451 KB

english, 2008

41

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

Koopmann, Tamara T., Beekman, Leander, Alders, Marielle, Meregalli, Paola G., Mannens, Marcel M.A.M., Moorman, Antoon F.M., Wilde, Arthur A.M., Bezzina, Connie R.

Journal:

Year:

2007

Language:

english

File:

PDF, 85 KB

english, 2007

42

A distinct epigenetic profile distinguishes stenotic from non-inflamed fibroblasts in the ileal mucosa of Crohn’s disease patients

Li Yim, Andrew Y. F., de Bruyn, Jessica R., Duijvis, Nicolette W., Sharp, Catriona, Ferrero, Enrico, de Jonge, Wouter J., Wildenberg, Manon E., Mannens, Marcel M. A. M., Buskens, Christianne J., D’Hae

Journal:

Year:

2018

Language:

english

File:

PDF, 3.45 MB

english, 2018

43

Peripheral blood methylation profiling of female Crohn’s disease patients

Li Yim, Andrew Y. F., Duijvis, Nicolette W., Zhao, Jing, de Jonge, Wouter J., D’Haens, Geert R. A. M., Mannens, Marcel M. A. M., Mul, Adri N. P. M., te Velde, Anje A., Henneman, Peter

Journal:

Clinical Epigenetics

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

44

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis

Cora M. Aalfs, Georgette B. Salieb-Beugelaar, Ronald J.A. Wanders, Marcel M.A.M. Mannens, Frits A. Wijburg

Journal:

Year:

2000

Language:

english

File:

PDF, 209 KB

english, 2000

45

KVLQT1, the rhythm of imprinting

Mannens, Marcel, Wilde, Arthur

Journal:

Nature Genetics

Year:

1997

File:

PDF, 657 KB

1997

46

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome

Bhuiyan, Zahurul A, Stewart, Helen, Redeker, Egbert J, Mannens, Marcel M A M, Hennekam, Raoul C M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 129 KB

english, 2007

47

Epigenome-wide association study for perceived discrimination among sub-Saharan African migrants in Europe - the RODAM study

van der Laan, Loes C., Meeks, Karlijn A. C., Chilunga, Felix P., Agyemang, Charles, Venema, Andrea, Mannens, Marcel M. A. M., Zafarmand, Mohammad H., Klipstein-Grobusch, Kerstin, Smeeth, Liam, Adeyemo

Journal:

Scientific Reports

Year:

2020

Language:

english

File:

PDF, 1.14 MB

english, 2020

48

The generation of ordered sets of cosmid DNA clones from human chromosome region 11p

Heding, Ian J.J.P., Ivens, Alasdair C., Wilson, Jeff, Strivens, Mark, Gregory, Simon, Hoovers, Jan M.N., Mannens, Marcel, Redeker, Bert, Porteous, David, van Heyningen, Veronica, Little, Peter F.R.

Journal:

Year:

1992

Language:

english

File:

PDF, 1.53 MB

english, 1992

49

Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma

Frank Speleman, Eva van den Berg, Catharina Dhooge, Wolter Oosterhuis, Bert Redeker, Christian R. De Potter, Rienk Y. J. Tamminga, Nadine Van Roy, Marcel Mannens

Journal:

Genes, Chromosomes and Cancer

Year:

1998

Language:

english

File:

PDF, 97 KB

english, 1998

50

Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family

Isabelle Henry, Jan Hoovers, Fernande Barichard, Marie-Françoise Berthéas, Anne Puech, Fabienne Prieur, Manfred Gessler, Gail Bruns, Marcel Mannens, Dr. Claudine Junien

Journal:

Genes, Chromosomes and Cancer

Year:

1993

Language:

english

File:

PDF, 564 KB

english, 1993

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