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MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 10, p. 2452, doi. 10.1210/clinem/dgae210
By:
- Rondón, Alejandra V Rodríguez;
- Welling, Mila S;
- Akker, Erica L T van den;
- Rossum, Elisabeth F C van;
- Boon, Elles M J;
- Haelst, Mieke M van;
- Delhanty, Patric J D;
- Visser, Jenny A
Publication type:
Article
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 89, doi. 10.1002/ajmg.c.31968
By:
- Kos, Renate;
- Israëls, Joël;
- van Gogh, Christine D. L.;
- Altenburg, Josje;
- Diepenhorst, Sandra;
- Paff, Tamara;
- Boon, Elles M. J.;
- Micha, Dimitra;
- Pals, Gerard;
- Neerincx, Anne H.;
- Maitland‐van der Zee, Anke H.;
- Haarman, Eric G.
Publication type:
Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
By:
- Dias, Caroline;
- Pfundt, Rolph;
- Kleefstra, Tjitske;
- Shuurs‐Hoeijmakers, Janneke;
- Boon, Elles M. J.;
- Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Weiss, Marjan M.;
- Keren, Boris;
- Mignot, Cyril;
- Isapof, Arnaud;
- Weiss, Karin;
- Hershkovitz, Tova;
- Iascone, Maria;
- Maitz, Silvia;
- Feichtinger, René G.;
- Kotzot, Dieter;
- Mayr, Johannes A.;
- Ben‐Omran, Tawfeg;
- Mahmoud, Laila
Publication type:
Article
The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2456, doi. 10.1002/ajmg.a.40486
By:
- Kleinendorst, Lotte;
- Pi Castán, Graciela;
- Caro‐Llopis, Alfonso;
- Boon, Elles M. J.;
- van Haelst, Mieke M.
Publication type:
Article
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Published in:
Scientific Reports, 2016, p. 38359, doi. 10.1038/srep38359
By:
- Sikkema-Raddatz, Birgit;
- Johansson, Lennart F.;
- de Boer, Eddy N.;
- Boon, Elles M. J.;
- Suijkerbuijk, Ron F.;
- Bouman, Katelijne;
- Bilardo, Catia M.;
- Swertz, Morris A.;
- Dijkstra, Martijn;
- van Langen, Irene M.;
- Sinke, Richard J.;
- te Meerman, Gerard J.
Publication type:
Article
<i>Mrassf1a</i>-Pap, a Novel Methylation-Based Assay for the Detection of Cell-Free Fetal DNA in Maternal Plasma.
Published in:
PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0084051
By:
- van den Oever, Jessica M. E.;
- Balkassmi, Sahila;
- Segboer, Tim;
- Verweij, E. Joanne;
- van der Velden, Pieter A.;
- Oepkes, Dick;
- Bakker, Egbert;
- Boon, Elles M. J.
Publication type:
Article
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Published in:
2021
By:
- Levy, Michael A.;
- Beck, David B.;
- Metcalfe, Kay;
- Douzgou, Sofia;
- Sithambaram, Sivagamy;
- Cottrell, Trudie;
- Ansar, Muhammad;
- Kerkhof, Jennifer;
- Mignot, Cyril;
- Nougues, Marie-Christine;
- Keren, Boris;
- Moore, Hannah W.;
- Oegema, Renske;
- Giltay, Jacques C.;
- Simon, Marleen;
- van Jaarsveld, Richard H.;
- Bos, Jessica;
- van Haelst, Mieke;
- Motazacker, M. Mahdi;
- Boon, Elles M. J.
Publication type:
Correction Notice
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
By:
- Levy, Michael A.;
- Beck, David B.;
- Metcalfe, Kay;
- Douzgou, Sofia;
- Sithambaram, Sivagamy;
- Cottrell, Trudie;
- Ansar, Muhammad;
- Kerkhof, Jennifer;
- Mignot, Cyril;
- Nougues, Marie-Christine;
- Keren, Boris;
- Moore, Hannah W.;
- Oegema, Renske;
- Giltay, Jacques C.;
- Simon, Marleen;
- van Jaarsveld, Richard H.;
- Bos, Jessica;
- van Haelst, Mieke;
- Motazacker, M. Mahdi;
- Boon, Elles M. J.
Publication type:
Article
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Published in:
2020
By:
- Kleinendorst, Lotte;
- Abawi, Ozair;
- van der Voorn, Bibian;
- Jongejan, Mieke H. T. M.;
- Brandsma, Annelies E.;
- Visser, Jenny A.;
- van Rossum, Elisabeth F. C.;
- van der Zwaag, Bert;
- Alders, Mariëlle;
- Boon, Elles M. J.;
- van Haelst, Mieke M.;
- van den Akker, Erica L. T.
Publication type:
Correction Notice
APOE ε2 is associated with white matter hyperintensity volume in CADASIL.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2016, v. 36, n. 1, p. 199, doi. 10.1038/jcbfm.2015.85
By:
- Gesierich, Benno;
- Opherk, Christian;
- Rosand, Jonathan;
- Gonik, Mariya;
- Malik, Rainer;
- Jouvent, Eric;
- Hervé, Dominique;
- Adib-Samii, Poneh;
- Bevan, Steve;
- Pianese, Luigi;
- Silvestri, Serena;
- Dotti, Maria T.;
- De Stefano, Nicola;
- van der Grond, Jeroen;
- Boon, Elles M. J.;
- Pescini, Francesca;
- Rost, Natalia;
- Pantoni, Leonardo;
- Oberstein, Saskia A. Lesnik;
- Federico, Antonio
Publication type:
Article
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Published in:
PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0232990
By:
- Kleinendorst, Lotte;
- Abawi, Ozair;
- van der Voorn, Bibian;
- Jongejan, Mieke H. T. M.;
- Brandsma, Annelies E.;
- Visser, Jenny A.;
- van Rossum, Elisabeth F. C.;
- van der Zwaag, Bert;
- Alders, Mariëlle;
- Boon, Elles M. J.;
- van Haelst, Mieke M.;
- van den Akker, Erica L. T.
Publication type:
Article
Activation of Wnt signaling in the intestinal mucosa of Apc<sup>+/min</sup> mice does not cause overexpression of the receptor tyrosine kinase Met.
Published in:
Cancer Science, 2006, v. 97, n. 8, p. 710, doi. 10.1111/j.1349-7006.2006.00238.x
By:
- Boon, Elles M. J.;
- Pouwels, Walter;
- Redeker, Sandra;
- Joosten, Sander P. J.;
- Hamann, Jörg;
- Van der Neut, Ronald;
- Pals, Steven T.
Publication type:
Article
Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing.
Published in:
Clinical Chemistry, 2013, v. 59, n. 4, p. 705, doi. 10.1373/clinchem.2012.196212
By:
- den Oever, Jessica M. E. van;
- Balkassmi, Sahila;
- Johansson, Lennart F.;
- van Scheltema, Phebe N. Adama;
- Suijkerbuijk, Ron F.;
- Hoffer, Mariëtte J. V.;
- Sinke, Richard J.;
- Bakker, Egbert;
- Sikkema-Raddatz, Birgit;
- Boon, Elles M. J.
Publication type:
Article
Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection.
Published in:
Clinical Chemistry, 2012, v. 58, n. 4, p. 699, doi. 10.1373/clinchem.2011.174698
By:
- van den Oever, Jessica M. E.;
- Balkassmi, Sahila;
- Joanne Verweij, E.;
- van Iterson, Maarten;
- Adama van Scheltema, Phebe N.;
- Oepkes, Dick;
- van Lith, Jan M. M.;
- Hoffer, Mariëtte J.V.;
- den Dunnen, Johan T.;
- Bakker, Egbert;
- Boon, Elles M. J.
Publication type:
Article
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Published in:
2020
By:
- Lin Li;
- Ghorbani, Mohammad;
- Weisz-Hubshman, Monika;
- Rousseau, Justine;
- Thiffault, Isabelle;
- Schnur, Rhonda E.;
- Breen, Catherine;
- Oegema, Renske;
- Weiss, Marjan M. M.;
- Waisfisz, Quinten;
- Welner, Sara;
- Kingston, Helen;
- Hills, Jordan A.;
- Boon, Elles M. J.;
- Basel-Salmon, Lina;
- Konen, Osnat;
- Goldberg-Stern, Hadassa;
- Bazak, Lily;
- Tzur, Shay;
- Jin, Jianliang
Publication type:
journal article
No vessel wall abnormalities in a human foetus with a NOTCH3 mutation.
Published in:
2008
By:
- Oberstein, Saskia A. J. Lesnik;
- Maat-Schieman, Marion L. C.;
- Boon, Elles M. J.;
- Haan, Joost;
- Breuning, Martijn H.;
- Van Duinen, Sjoerd G.
Publication type:
Letter
Comparing methods for fetal fraction determination and quality control of NIPT samples.
Published in:
2017
By:
- Beek, Daphne M.;
- Straver, Roy;
- Weiss, Marian M.;
- Boon, Elles M. J.;
- Huijsdens‐van Amsterdam, Karin;
- Oudejans, Cees B. M.;
- Reinders, Marcel J. T.;
- Sistermans, Erik A.;
- van Beek, Daphne M;
- Huijsdens-van Amsterdam, Karin
Publication type:
journal article
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.
Published in:
2016
By:
- Oepkes, Dick;
- Page‐Christiaens, G. C. (Lieve);
- Bax, Caroline J.;
- Bekker, Mireille N.;
- Bilardo, Catia M.;
- Boon, Elles M. J.;
- Schuring‐Blom, G. Heleen;
- Coumans, Audrey B. C.;
- Faas, Brigitte H.;
- Galjaard, Robert‐Jan H.;
- Go, Attie T.;
- Henneman, Lidewij;
- Macville, Merryn V. E.;
- Pajkrt, Eva;
- Suijkerbuijk, Ron F.;
- Huijsdens‐van Amsterdam, Karin;
- Van Opstal, Diane;
- Verweij, E. J. (Joanne);
- Weiss, Marjan M.;
- Sistermans, Erik A.
Publication type:
journal article
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.
Published in:
2015
By:
- Oever, Jessica M. E.;
- Bijlsma, Emilia K.;
- Feenstra, Ilse;
- Muntjewerff, Nienke;
- Mathijssen, Inge B.;
- Bakker, Egbert;
- Belzen, Martine J.;
- Boon, Elles M. J.
Publication type:
journal article
Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 6, p. 563, doi. 10.1002/pd.4111
By:
- Boon, Elles M. J.;
- Faas, Brigitte H. W.
Publication type:
Article
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 6, p. 578, doi. 10.1002/pd.3864
By:
- Phylipsen, Marion;
- Yamsri, Supawadee;
- Treffers, Emmely E.;
- Jansen, Diahann T. S. L.;
- Kanhai, Warsha A.;
- Boon, Elles M. J.;
- Giordano, Piero C.;
- Fucharoen, Supan;
- Bakker, Egbert;
- Harteveld, Cornelis L.
Publication type:
Article
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 10, p. 932, doi. 10.1002/pd.1804
By:
- Boon, Elles M. J.;
- Schlecht, Hélène B.;
- Martin, Peter;
- Daniels, Geoff;
- Vossen, Rolf H. A. M.;
- den Dunnen, Johan T.;
- Bakker, Bert;
- Elles, Rob
Publication type:
Article

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