Van Haeringen, Arie : rechercher sur Z-Library

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1

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kev

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 386 KB

english, 2012

2

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Dauwerse, Johannes G, Dixon, Jill

Journal:

Nature Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 491 KB

english, 2010

3

Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997)

Maat-Kievit, Anneke, Vegter-van der Vlis, Maria, Zoeteweij, Moniek, Losekoot, Monique, van Haeringen, Arie, Roos, Raymund A.C.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 130 KB

english, 1999

4

Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987–1997)

Anneke Maat-Kievit, Maria Vegter-van der Vlis, Moniek Zoeteweij, Monique Losekoot, Arie van Haeringen, Humphrey Kanhai, Raymund Roos

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 169 KB

english, 1999

5

Intermittent thrombocytopenia and absent radii: Report of a patient with additional unusual manifestations

Dr. Arie van Haeringen, Foekje Veenstra, Petra D. Maaswinkel-Mooij, Jacques J. P. van de Kamp

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 514 KB

english, 1989

6

Interstitial deletion of 6q without phenotypic effect

Kerstin Hansson, Karoly Szuhai, Jeroen Knijnenburg, Arie van Haeringen, Joke de Pater

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 144 KB

english, 2007

7

Phenotype and natural history in Marshall–Smith syndrome

Adam C. Shaw, Inge D.C. van Balkom, Mislen Bauer, Trevor R.P. Cole, Marie-Ange Delrue, Arie Van Haeringen, Eva Holmberg, Samantha J.L. Knight, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Mart

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 296 KB

english, 2010

8

Genetic testing in familial melanoma: uptake and implications

Femke A. de Snoo, Samantha R. Riedijk, Anneke M. van Mil, Wilma Bergman, Jeanet A.C. ter Huurne, Reinier Timman, Wieke Bertina, Nelleke A. Gruis, Hans F.A. Vasen, Arie van Haeringen, Martijn H. Breuni

Journal:

Psycho-Oncology

Année:

2008

Langue:

english

Fichier:

PDF, 156 KB

english, 2008

9

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds.

Gruis, Nelleke A., Bavinck, Jan N. Bouwes, Steijlen, Peter M., Van Der Schroeff, Jan G., Van Haeringen, Arie, Happle, Rudolf, Mariman, Edwin, Van Beersum, Sylvia E. C., Uitto, Jouni, Vermeer, Bert J.,

Journal:

The Journal of Investigative Dermatology

Année:

1992

Fichier:

PDF, 1.64 MB

1992

10

Pre-conception counselling in primary care: prevalence of risk factors among couples contemplating pregnancy

Karin M. Van Der Pal-de Bruin, Saskia Le Cessie, Joyce Elsinga, Lieke C. De Jong-Potjer, Arie Van Haeringen, Arie Knuistingh Neven, S. Pauline Verloove-Vanhorick, Pim Assendelft

Journal:

Paediatric and Perinatal Epidemiology

Année:

2008

Langue:

english

Fichier:

PDF, 83 KB

english, 2008

11

Dysplastic Nevus Syndrome in The Netherlands

WILMA BERGMAN, ARIE VAN HAERINGEN

Journal:

Pigment Cell & Melanoma Research

Année:

1988

Langue:

english

Fichier:

PDF, 572 KB

english, 1988

12

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Gijsbers, Antoinet CJ, Lew, Janet YK, Bosch, Cathy AJ, Schuurs-Hoeijmakers, Janneke HM, van Haeringen, Arie, den Hollander, Nicolette S, Kant, Sarina G, Bijlsma, Emilia K, Breuning, Martijn H, Bakker,

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 311 KB

english, 2009

13

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

Donnér, Mikael, Elinder, Göran, Renter, Jan-Inge, Nilsson, Per-Gunnar, Gordon, Laurie, Gustavsson, Peter, Willig, Thiébaut-Noel, Haeringen, Arie van, Tchernia, Gil, Dianzani, Irma

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 614 KB

1997

14

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

Knijnenburg, Jeroen, van Haeringen, Arie, Hansson, Kerstin B M, Lankester, Arjan, Smit, Margot J M, Belfroid, René D M, Bakker, Egbert, Rosenberg, Carla, Tanke, Hans J, Szuhai, Károly

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 269 KB

english, 2007

15

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Valérie Malan, Diana Rajan, Sophie Thomas, Adam C. Shaw, Hélène Louis dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Laurence Legeai

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 966 KB

english, 2010

16

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

Kathrin Laue, Hans-Martin Pogoda, Philip B. Daniel, Arie van Haeringen, Yasemin Alanay, Simon von Ameln, Martin Rachwalski, Tim Morgan, Mary J. Gray, Martijn H. Breuning, Gregory M. Sawyer, Andrew J.

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2011

17

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes

Antoinet C.J. Gijsbers, Cathy A.J. Bosch, Johannes G. Dauwerse, Osdilly Giromus, Kerstin Hansson, Yvonne Hilhorst-Hofstee, Marjolein Kriek, Arie van Haeringen, Emilia K. Bijlsma, Egbert Bakker, Martij

Journal:

European Journal of Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 520 KB

english, 2010

18

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal Duijf, Ben C.J Hamel, Michael Bamshad, Bridget Kramer, Arie P.T Smits, Ruth Newbury-Ecob, Raoul C.M Hennekam, Griet Van Buggenhout, Arie van Haeringen, C.Geoffrey Woods, Anthonie

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 374 KB

english, 1999

19

Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9

Sarina G. Kant, Alexander Polinkovsky, Stefan Mundlos, Bernhard Zabel, Ralph T.W.M. Thomeer, Harmien M. Zonderland, Ling-yu Shih, Arie van Haeringen, Matthew L. Warman

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 246 KB

english, 1998

20

Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in dutch families

van Haeringen, Arie, Bergman, Wilma, Nelen, Marcel R., van der Kooij-Meijs, Ellien, Hendrikse, Iems, Wijnen, Juul Th., Khan, Paul Meera, Klasen, Eduard C., Frants, Rune R.

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 406 KB

english, 1989

21

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family

Moghadasi, Setareh, van Haeringen, Arie, Langendonck, Lieke, Gijsbers, Antoinet C. J., Ruivenkamp, Claudia A. L.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 372 KB

english, 2014

22

Biallelic SEMA3A defects cause a novel type of syndromic short stature

Hofmann, Kristin, Zweier, Markus, Sticht, Heinrich, Zweier, Christiane, Wittmann, Wolfgang, Hoyer, Juliane, Uebe, Steffen, van Haeringen, Arie, Thiel, Christian T., Ekici, Arif B., Reis, André, Rauch,

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2013

23

GPSM 2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America

Almomani, Rowida, Sun, Yu, Aten, Emmelien, Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M.P.C.D., van Haeringen, Arie, Hendriks, Yvonne M.C., den Dunnen, Johan T., Breuning, Martijn H., Kriek, Mar

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 227 KB

english, 2013

24

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munni

Journal:

Nature Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 736 KB

english, 2011

25

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Dauwerse, Johannes G, van Belzen, Martine, van Haeringen, Arie, van Santen, Gijs, van de Lans, Christian, Rahikkala, Elisa, Garavelli, Livia, Breuning, Martijn, Hennekam, Raoul, Peters, Dorien

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2016

26

Mutation inNRASin familial Noonan syndrome – case report and review of the literature

Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise

Journal:

BMC Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1018 KB

english, 2015

27

[Society of Petroleum Engineers SPE Asia Pacific Oil and Gas Conference - Singapore (1993-02-08)] SPE Asia Pacific Oil and Gas Conference - The Use of a Log-Derived Formation Strength Index for Gravel Pack Decision Making in the Rasau Field

Clayton, F.M., Van Haeringen, Arie

Langue:

english

Fichier:

PDF, 300 KB

english

28

Imprinting: the Achilles heel of trio-based exome sequencing

Aten, Emmelien, Fountain, Michael D., van Haeringen, Arie, Schaaf, Christian P., Santen, Gijs W.E.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 399 KB

english, 2016

29

Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome

van Rij, Maartje C., Hollink, Iris H. I. M., Terhal, Paulien Anna, Kant, Sarina G., Ruivenkamp, Claudia, van Haeringen, Arie, Kievit, J. Anneke, van Belzen, Martine J.

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 599 KB

english, 2018

30

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

Zaveri, Hitisha P., Beck, Tyler F., Hernández-García, Andrés, Shelly, Katharine E., Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow,

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 501 KB

english, 2014

31

Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression

Lind, Thomas, Lugano, Roberta, Gustafson, Ann-Marie, Norgård, Maria, van Haeringen, Arie, Dimberg, Anna, Melhus, Håkan, Robertson, Stephen P., Andersson, Göran

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 3.18 MB

english, 2018

32

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

Popov, Ivan K., Hiatt, Susan M., Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M., Korf, Bruce R., Chang, Chenbei

Journal:

Frontiers in Physiology

Année:

2019

Langue:

english

Fichier:

PDF, 10.24 MB

english, 2019

33

An activating deletion variant in the sub-membrane region of natriuretic peptide receptor-B causes tall stature

Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, DaniÃ«ll

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2020

Fichier:

PDF, 1.29 MB

2020