Heutink, Peter : rechercher sur Z-Library

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1

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

Robert-Jan H. Galjaard, Herma C. van der Linde, Bert H. J. Eussen, Bert B. A. de Vries, Cokkie H. Wouters, Ben A. Oostra, Esther de Graaff, Peter Heutink

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 270 KB

english, 2003

2

The role of the COMT Val158Met polymorphism in the phenotypic expression of obsessive-compulsive disorder

Hilga Katerberg, Danielle C. Cath, Damiaan A. J. P. Denys, Peter Heutink, Annemiek Polman, Filip C. W. van Nieuwerburgh, Dieter L. D. Deforce, Zoltán Bochdanovits, Anton J. L. M. van Balkom, Johan A.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 132 KB

english, 2010

3

Association between genetic variation in the gene for insulin-like growth factor-l and low birthweight

Norbert Vaessen, Joop A Janssen, Peter Heutink, Albert Hofman, Steven WJ Lamberts, Ben A Oostra, Huibert AP Pols, Cornelia M van Duijn

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 61 KB

english, 2002

4

The Primary Erythermalgia–Susceptibility Gene Is Located on Chromosome 2q31-32

Joost P.H. Drenth, Wayne H. Finley, Guido J. Breedveld, Leon Testers, Jan J. Michiels, G. Guillet, Alain Taieb, R. Lee Kirby, Peter Heutink

Journal:

The American Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 967 KB

english, 2001

5

Assessing combined impacts of agrochemicals: Aquatic macroinvertebrate population responses in outdoor mesocosms

Barmentlo, S. Henrik, Schrama, Maarten, Hunting, Ellard R., Heutink, Roel, van Bodegom, Peter M., de Snoo, Geert R., Vijver, Martina G.

Journal:

Science of The Total Environment

Année:

2018

Langue:

english

Fichier:

PDF, 739 KB

english, 2018

6

FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation

Anne D. Sperfeld, Michael B. Collatz, Hartmut Baier, Markus Palmbach, Alexander Storch, Johannes Schwarz, Klaus Tatsch, Sven Reske, Marijke Joosse, Peter Heutink, Albert C. Ludolph

Journal:

Annals of Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 731 KB

english, 1999

7

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23

Bert B.A. de Vries, Guido J. Breedveld, Wouter H. Deelen, Martijn H. Breuning, Martinus F. Niermeijer, Peter Heutink

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 52 KB

english, 2002

8

De Vries BBA, Breedveld GJ, Deelen WH, Breunning MH, Niermeijer MF, Heutink P. 2002. Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. Am J Med Genet 111:443–445

Bert B.A. de Vries, Guido J. Breedveld, Wouter H. Deelen, Martijn H. Breuning, Martinus F. Niermeijer, Peter Heutink

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Fichier:

PDF, 19 KB

2002

9

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping and FTO gene expression study

Linda van den Berg, Henriette Delemarre-van de Waal, Joan C. Han, Bauke Ylstra, Paul Eijk, Maria Nesterova, Peter Heutink, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 190 KB

english, 2010

10

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

Patrizia Rizzu, Saskia E. van Mil, Burcu Anar, Sonia M. Rosso, Laura Donker Kaat, Peter Heutink, John C. van Swieten

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 51 KB

english, 2006

11

Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia

Dina Ruano, António Macedo, Maria João Soares, José Valente, Maria Helena Azevedo, Carlos Pato, Mara Helena Hutz, Clarissa S. Gama, Maria Inês Lobato, Paulo Belmonte-de-Abreu, Peter Heutink, Joana Alm

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 81 KB

english, 2007

12

An English kindred with a novel recessive tauopathy and respiratory failure

David J. Nicholl, Michael A. Greenstone, Carl E. Clarke, Patrizia Rizzu, Daniel Crooks, Alex Crowe, John Q. Trojanowski, Virginia M.-Y. Lee, Peter Heutink

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 176 KB

english, 2003

13

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS

Johannes Prudlo, Burkhard Alber, Vera M. Kalscheuer, Klaus Roemer, Thomas Martin, Joern Dullinger, Helmut Sittinger, Stephan Niemann, Peter Heutink, Albert C. Ludolph, Hilger H. Ropers, Klaus Zang, Th

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 273 KB

english, 2004

14

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

Marjo S. van der Knaap, Leo M. E. Smit, Frederik Barkhof, Yolande A. L. Pijnenburg, Sonja Zweegman, Hans W. M. Niessen, Saskia Imhof, Peter Heutink

Journal:

Annals of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 530 KB

english, 2006

15

Natural antibodies to HIV-tat epitopes and expression of HIV-1 genes in vivo

Willy J. A. Krone, Christine Debouck, Leon G. Epstein, Peter Heutink, Rob Meloen, Dr. Jaap Goudsmit

Journal:

Journal of Medical Virology

Année:

1988

Langue:

english

Fichier:

PDF, 628 KB

english, 1988

16

CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study

B. Sanjay Harhangi, Ben A. Oostra, Peter Heutink, Cornelia M. van Duijn, Albert Hofman, Monique M.B. Breteler

Journal:

Movement Disorders

Année:

2001

Langue:

english

Fichier:

PDF, 26 KB

english, 2001

17

Clinical features and neuroimaging of PARK7-linked parkinsonism

Marieke Dekker, Vincenzo Bonifati, John van Swieten, Nico Leenders, Robert-Jan Galjaard, Pieter Snijders, Marten Horstink, Peter Heutink, Ben Oostra, Cornelia van Duijn

Journal:

Movement Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 145 KB

english, 2003

18

Familial influence on parkinsonism in a rural area of Turkey (Kızılcaboluk–Denizli): A community-based case-control study

Fusun Duzcan, Mehmet Zencir, Fatma Ozdemir, G. Ozan Cetin, Huseyin Bagci, Peter Heutink, Vincenzo Bonifati, Turker Sahiner

Journal:

Movement Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 443 KB

english, 2003

19

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease

Aida M. Bertoli-Avella, Jose L. Giroud-Benitez, Vincenzo Bonifati, Eduardo Alvarez-Gonzalez, Luis Heredero-Baute, Cornelia M. Van Duijn, Peter Heutink

Journal:

Movement Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 171 KB

english, 2003

20

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

Esther Brusse, Inge de Koning, Anneke Maat-Kievit, Ben A. Oostra, Peter Heutink, John C. van Swieten

Journal:

Movement Disorders

Année:

2006

Langue:

english

Fichier:

PDF, 152 KB

english, 2006

21

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease

Maria G. Macedo, Dagmar Verbaan, Yue Fang, Stephanie M. van Rooden, Martine Visser, Burcu Anar, Antonella Uras, Justus L. Groen, Patrizia Rizzu, Jacobus J. van Hilten, Peter Heutink

Journal:

Movement Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 115 KB

english, 2009

22

Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease

Lonneke M.L. de Lau, Dagmar Verbaan, Johan Marinus, Peter Heutink, Jacobus J. van Hilten

Journal:

Movement Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 1006 KB

english, 2012

23

Profiling transcription initiation in human aged brain using deep-CAGE

Margherita Francescatto, Luba Pardo, Patrizia Rizzu, Morana Vitezic, Javier Simón-Sánchez, Hazuki Takahashi, Carsten Daub, Piero Carninci, Peter Heutink

Journal:

BMC Bioinformatics

Année:

2011

Langue:

english

Fichier:

PDF, 63 KB

english, 2011

24

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring?Design of a case-control study

Marieke E Teeuw, Lidewij Henneman, Zoltan Bochdanovits, Peter Heutink, Dirk J Kuik, Martina C Cornel, Leo P ten Kate

Journal:

BMC Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 268 KB

english, 2010

25

Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study

Florencia M Gosso, Eco JC de Geus, Tinca JC Polderman, Dorret I Boomsma, Danielle Posthuma, Peter Heutink

Journal:

BMC Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 705 KB

english, 2007

26

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

Conceição Bettencourt, Cristina Santos, Paula Coutinho, Patrizia Rizzu, João Vasconcelos, Teresa Kay, Teresa Cymbron, Mafalda Raposo, Peter Heutink, Manuela Lima

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 159 KB

english, 2011

27

Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson’s disease

Vincenzo Bonifati, BenA. Oostra, Peter Heutink

Journal:

Journal of Molecular Medicine

Année:

2004

Langue:

english

Fichier:

PDF, 302 KB

english, 2004

28

Hemimelic extra toesandHammer toeare distinct mutations that show a genetic interaction

Henk C. Heus, Anton J.M. Luijsterburg, Marijke J. van Baren, Guido J. Breedveld, Marijke N. Joosse, Ingeborg M. Nieuwenhuizen, Christl Vermeij-Keers, Ben A. Oostra, Peter Heutink

Journal:

Mammalian Genome

Année:

2001

Langue:

english

Fichier:

PDF, 153 KB

english, 2001

29

Chasing genes in Alzheimer’s and Parkinson’s disease

AidaM. Bertoli-Avella, BenA. Oostra, Peter Heutink

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 283 KB

english, 2004

30

Disruption of theC7orf2/Lmbr1genic region is associated with preaxial polydactyly in humans and mice

Taizo Horikoshi, Naoto Endo, Minoru Shibata, Peter Heutink, Robert E. Hill, Sumihare Noji

Journal:

Journal of Bone and Mineral Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 161 KB

english, 2003

31

10.1038/31508

Hutton, Mike, Heutink, Peter, Lendon, Corinne L., Rizzu, Patrizia, Baker, Matt, Froelich, Susanne, Houlden, Henry, Pickering-Brown, Stuart, Chakraverty, Sumi, Isaacs, Adrian, Grover, Andrew, Hackett,

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 305 KB

english, 1998

32

Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap–CEU populations

Pardo, Luba, Bochdanovits, Zoltán, de Geus, Eco, Hottenga, Jouke J, Sullivan, Patrick, Posthuma, Danielle, Penninx, Brenda W J H, Boomsma, Dorret, Heutink, Peter

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 731 KB

english, 2009

33

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning

Gosso, M Florencia, de Geus, Eco J C, Polderman, Tinca J C, Boomsma, Dorret I, Heutink, Peter, Posthuma, Danielle

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 170 KB

english, 2008

34

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

Heutink, Peter, Zguricas, Julia, Oosterhout, Linda van, Breedveld, Guido J., Testers, Leon, Sandkuijl, Lodewijk A., Snijders, Pieter J.L.M., Weissenbach, Jean, Lindhout, Dick, Hovius, Steven E.R

Journal:

Nature Genetics

Année:

1994

Fichier:

PDF, 504 KB

1994

35

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

Linda van den Berg, Olivier van Beekum, Peter Heutink, Bram A. Felius, Monique P.M. van de Heijning, Stefan Strijbis, Rosalina van Spaendonk, Daniela Piancatelli, Keith M. Garner, Rajae El-Aouad, Erik

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 178 KB

english, 2011

36

A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34

Galjaard, Robert-Jan H, Smits, Arie P T, Tuerlings, Joep H A M, Bais, Aagje G, Avella, Aida M Bertoli, Breedveld, Guido, Graaff, Esther de, Oostra, Ben A, Heutink, Peter

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 177 KB

english, 2003

37

Linkage disequilibrium in young genetically isolated Dutch population

Aulchenko, Yurii S, Heutink, Peter, Mackay, Ian, Bertoli-Avella, Aida M, Pullen, Jan, Vaessen, Norbert, Rademaker, Tessa AM, Sandkuijl, Lodewijk A, Cardon, Lon, Oostra, Ben

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 138 KB

english, 2004

38

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

Bronner, Iraad F, Rizzu, Patrizia, Seelaar, Harro, van Mil, Saskia E, Anar, Burcu, Azmani, Asma, Kaat, Laura Donker, Rosso, Sonia, Heutink, Peter, van Swieten, John C

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 147 KB

english, 2007

39

Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects

Boomsma, Dorret I, Willemsen, Gonneke, Sullivan, Patrick F, Heutink, Peter, Meijer, Piet, Sondervan, David, Kluft, Cornelis, Smit, Guus, Nolen, Willem A, Zitman, Frans G

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 140 KB

english, 2008

40

Empirical assessment of the validity of the ‘fundamental theorem of the HapMap’ in the light of ‘cryptic’ tagging of multiple susceptibility loci

Bochdanovits, Zoltán, Heutink, Peter, van der Vaart, Aad

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 109 KB

english, 2008

41

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

Dina Ruano, Gonçalo R. Abecasis, Beate Glaser, Esther S. Lips, L. Niels Cornelisse, Arthur P.H. de Jong, David M. Evans, George Davey Smith, Nicolas J. Timpson, August B. Smit, Peter Heutink, Matthijs

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2010

42

Drosophila DJ-1 Mutants Are Selectively Sensitive to Environmental Toxins Associated with Parkinson’s Disease

Marc Meulener, Alexander J. Whitworth, Cecilia E. Armstrong-Gold, Patrizia Rizzu, Peter Heutink, Paul D. Wes, Leo J. Pallanck, Nancy M. Bonini

Journal:

Current Biology

Année:

2005

Langue:

english

Fichier:

PDF, 356 KB

english, 2005

43

Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1

Yong Tian, Guido J Breedveld, Shangzhi Huang, Ben A Oostra, Peter Heutink, Wilson H.Y Lo

Journal:

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

Année:

2002

Langue:

english

Fichier:

PDF, 297 KB

english, 2002

44

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

John C van Swieten, Peter Heutink

Journal:

The Lancet Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 284 KB

english, 2008

45

A multidisciplinary cognitive behavioural programme for coping with chronic neuropathic pain following spinal cord injury: the protocol of the CONECSI trial

Matagne Heutink, Marcel WM Post, Peter Luthart, Lilian EMA Pfennings, Catja A Dijkstra, Eline Lindeman

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 274 KB

english, 2010

46

A Double RING-H2 Domain in RNF32, a Gene Expressed during Sperm Formation

Marijke J. van Baren, Herma C. van der Linde, Guido J. Breedveld, Willy M. Baarends, Patrizia Rizzu, Esther de Graaff, Ben A. Oostra, Peter Heutink

Journal:

Biochemical and Biophysical Research Communications

Année:

2002

Langue:

english

Fichier:

PDF, 421 KB

english, 2002

47

Dominant Hemochromatosis Due to N144H Mutation of SLC11A3: Clinical and Biological Characteristics

Omer T. Njajou, Gerard de Jong, Bianca Berghuis, Norbert Vaessen, Pieter J.L.M. Snijders, Jan P. Goossens, John H.P. Wilson, Martijn H. Breuning, Ben A. Oostra, Peter Heutink, Lodewijk A. Sandkuijl, C

Journal:

Blood Cells, Molecules, and Diseases

Année:

2002

Langue:

english

Fichier:

PDF, 34 KB

english, 2002

48

Isolation and Characterization of 25 Unique DNA Markers for Human Chromosome 22

Nick A. Van Biezen, Ronald H.Lekanne Deprez, Abel Thijs, Peter Heutink, Ben A. Oostra, Ad H.M.Geurts van Kessel, Ellen C. Zwarthoff

Journal:

Année:

1993

Fichier:

PDF, 135 KB

1993

49

The Hemochromatosis N144H Mutation of SLC11A3 Gene in Patients with Type 2 Diabetes

Omer T. Njajou, Norbert Vaessen, Ben Oostra, Peter Heutink, Cornelia M. Van Duijn

Journal:

Molecular Genetics and Metabolism

Année:

2002

Langue:

english

Fichier:

PDF, 22 KB

english, 2002

50

From Single Genes to Gene Networks: High-Throughput-High-Content Screening for Neurological Disease

Shushant Jain, Peter Heutink

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 783 KB

english, 2010