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Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 8, p. 731, doi. 10.1002/mdc3.12835
By:
- Crosiers, David;
- Blaumeiser, Bettina;
- Van Goethem, Gert
Publication type:
Article
Spectrum of Movement Disorders in 18p Deletion Syndrome.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 70, doi. 10.1002/mdc3.12707
By:
- Crosiers, David;
- Blaumeiser, Bettina;
- Van Goethem, Gert
Publication type:
Article
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1768
By:
- Duerinckx, Sarah;
- Désir, Julie;
- Perazzolo, Camille;
- Badoer, Cindy;
- Jacquemin, Valérie;
- Soblet, Julie;
- Maystadt, Isabelle;
- Tunca, Yusuf;
- Blaumeiser, Bettina;
- Ceulemans, Berten;
- Courtens, Winnie;
- Debray, François‐Guillaume;
- Destree, Anne;
- Devriendt, Koenraad;
- Jansen, Anna;
- Keymolen, Kathelijn;
- Lederer, Damien;
- Loeys, Bart;
- Meuwissen, Marije;
- Moortgat, Stéphanie
Publication type:
Article
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
Published in:
Experimental Dermatology, 2017, v. 26, n. 6, p. 536, doi. 10.1111/exd.13123
By:
- Fischer, Johannes;
- Degenhardt, Franziska;
- Hofmann, Andrea;
- Redler, Silke;
- Basmanav, F. Buket;
- Heilmann‐Heimbach, Stefanie;
- Hanneken, Sandra;
- Giehl, Kathrin A.;
- Wolff, Hans;
- Moebus, Susanne;
- Kruse, Roland;
- Lutz, Gerhard;
- Blaumeiser, Bettina;
- Böhm, Markus;
- Garcia Bartels, Natalie;
- Blume‐Peytavi, Ulrike;
- Petukhova, Lynn;
- Christiano, Angela M.;
- Nöthen, Markus M.;
- Betz, Regina C.
Publication type:
Article
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Published in:
Cancers, 2021, v. 13, n. 17, p. 4430, doi. 10.3390/cancers13174430
By:
- Wieme, Greet;
- Kral, Jan;
- Rosseel, Toon;
- Zemankova, Petra;
- Parton, Bram;
- Vocka, Michal;
- Van Heetvelde, Mattias;
- Kleiblova, Petra;
- Blaumeiser, Bettina;
- Soukupova, Jana;
- van den Ende, Jenneke;
- Nehasil, Petr;
- Tejpar, Sabine;
- Borecka, Marianna;
- Gómez García, Encarna B.;
- Blok, Marinus J.;
- Safarikova, Marketa;
- Kalousova, Marta;
- Geboes, Karen;
- De Putter, Robin
Publication type:
Article
Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.
Published in:
Clinical Case Reports, 2020, v. 8, n. 8, p. 1461, doi. 10.1002/ccr3.2889
By:
- Vervecken, Evy;
- Blaumeiser, Bettina;
- Vanderheyden, Tina;
- Hauspy, Jan;
- Janssens, Katrien
Publication type:
Article
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.
Published in:
Clinical Case Reports, 2017, v. 5, n. 4, p. 440, doi. 10.1002/ccr3.800
By:
- Muys, Joke;
- Blaumeiser, Bettina;
- Jacquemyn, Yves;
- Janssens, Katrien
Publication type:
Article
Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
Published in:
Acta Dermato-Venereologica, 2017, v. 97, n. 7, p. 862, doi. 10.2340/00015555-2658
By:
- REDLER, Silke;
- BASMANAV, F. Buket Ü.;
- BLAUMEISER, Bettina;
- GARCIA BARTELS, Natalie;
- LUTZ, Gerhard;
- TAFAZZOLI, Aylar;
- KRUSE, Roland;
- WOLFF, Hans;
- BÖHM, Markus;
- BLUME-PEYTAVI, Ulrike;
- BECKER, Tim;
- NÖTHEN, Markus M.;
- BETZ, Regina C.
Publication type:
Article
Immunochip-Based Analysis: High-Density Genotyping of Immune-Related Loci Sheds Further Light on the Autoimmune Genetic Architecture of Alopecia Areata.
Published in:
Journal of Investigative Dermatology, 2015, v. 135, n. 3, p. 919, doi. 10.1038/jid.2014.459
By:
- Redler, Silke;
- Angisch, Marina;
- Heilmann, Stefanie;
- Wolf, Sabrina;
- Barth, Sandra;
- Basmanav, Buket F;
- Giehl, Kathrin A;
- Hanneken, Sandra;
- Eigelshoven, Sibylle;
- Mangold, Elisabeth;
- Kruse, Roland;
- Blaumeiser, Bettina;
- Böhm, Markus;
- Knapp, Michael;
- Garcia Bartels, Natalie;
- Lutz, Gerhard;
- Wolff, Hans;
- Blume-Peytavi, Ulrike;
- Nöthen, Markus M;
- Becker, Tim
Publication type:
Article
Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide Significance.
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 9, p. 2192, doi. 10.1038/jid.2012.129
By:
- Jagielska, Dagny;
- Redler, Silke;
- Brockschmidt, Felix F;
- Herold, Christine;
- Pasternack, Sandra M;
- Garcia Bartels, Natalie;
- Hanneken, Sandra;
- Eigelshoven, Sibylle;
- Refke, Melanie;
- Barth, Sandra;
- Giehl, Kathrin A;
- Kruse, Roland;
- Lutz, Gerhard;
- Wolff, Hans;
- Blaumeiser, Bettina;
- Böhm, Markus;
- Blume-Peytavi, Ulrike;
- Becker, Tim;
- Nöthen, Markus M;
- Betz, Regina C
Publication type:
Article
Genetic Variants in CTLA4 Are Strongly Associated with Alopecia Areata.
Published in:
2011
By:
- John, Karsten K.-G.;
- Brockschmidt, Felix F.;
- Redler, Silke;
- Herold, Christine;
- Hanneken, Sandra;
- Eigelshoven, Sibylle;
- Giehl, Kathrin A.;
- De Weert, Jozef;
- Lutz, Gerhard;
- Kruse, Roland;
- Wolff, Hans;
- Blaumeiser, Bettina;
- Böhm, Markus;
- Becker, Tim;
- Nöthen, Markus M.;
- Betz, Regina C.
Publication type:
Letter
Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease.
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 11, p. 2539, doi. 10.1038/sj.jid.5700915
By:
- Betz, Regina C.;
- Pforr, Jana;
- Flaquer, Antonia;
- Redler, Silke;
- Hanneken, Sandra;
- Eigelshoven, Sibylle;
- Kortüm, Anne-Katrin;
- Tüting, Thomas;
- Lambert, Julien;
- De Weert, Jozef;
- Hillmer, Axel M.;
- Schmael, Christine;
- Wienker, Thomas F.;
- Kruse, Roland;
- Lutz, Gerhard;
- Blaumeiser, Bettina;
- Nöthen, Markus M.
Publication type:
Article
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00464-w
By:
- Jacquemin, Valerie;
- Versbraegen, Nassim;
- Duerinckx, Sarah;
- Massart, Annick;
- Soblet, Julie;
- Perazzolo, Camille;
- Deconinck, Nicolas;
- Brischoux-Boucher, Elise;
- De Leener, Anne;
- Revencu, Nicole;
- Janssens, Sandra;
- Moorgat, Stèphanie;
- Blaumeiser, Bettina;
- Avela, Kristiina;
- Touraine, Renaud;
- Abou Jaoude, Imad;
- Keymolen, Kathelijn;
- Saugier-Veber, Pascale;
- Lenaerts, Tom;
- Abramowicz, Marc
Publication type:
Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 5, p. 877, doi. 10.1093/hmg/ddz173
By:
- Cheng, Hanyin;
- Gottlieb, Leah;
- Marchi, Elaine;
- Kleyner, Robert;
- Bhardwaj, Puja;
- Rope, Alan F;
- Rosenheck, Sarah;
- Moutton, Sébastien;
- Philippe, Christophe;
- Eyaid, Wafaa;
- Alkuraya, Fowzan S;
- Toribio, Janet;
- Mena, Rafael;
- Prada, Carlos E;
- Stessman, Holly;
- Bernier, Raphael;
- Wermuth, Marieke;
- Kauffmann, Birgit;
- Blaumeiser, Bettina;
- Kooy, R Frank
Publication type:
Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111
By:
- Cheng, Hanyin;
- Gottlieb, Leah;
- Marchi, Elaine;
- Kleyner, Robert;
- Bhardwaj, Puja;
- Rope, Alan F;
- Rosenheck, Sarah;
- Moutton, Sébastien;
- Philippe, Christophe;
- Eyaid, Wafaa;
- Alkuraya, Fowzan S;
- Toribio, Janet;
- Mena, Rafael;
- Prada, Carlos E;
- Stessman, Holly;
- Bernier, Raphael;
- Wermuth, Marieke;
- Kauffmann, Birgit;
- Blaumeiser, Bettina;
- Kooy, R Frank
Publication type:
Article
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Published in:
Diagnostics (2075-4418), 2023, v. 13, n. 5, p. 860, doi. 10.3390/diagnostics13050860
By:
- Janicki, Ewa;
- De Rademaeker, Marjan;
- Meunier, Colombine;
- Boeckx, Nele;
- Blaumeiser, Bettina;
- Janssens, Katrien
Publication type:
Article
Difference in Procedure-Related Risk of Miscarriage between Early and Mid-Trimester Amniocentesis: A Retrospective Cohort Study.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 1098, doi. 10.3390/diagnostics11061098
By:
- Steinfort, Kelly;
- Van Houtven, Ellen;
- Jacquemyn, Yves;
- Blaumeiser, Bettina;
- Loquet, Philip
Publication type:
Article
Prenatal Biochemical and Ultrasound Markers in COVID-19 Pregnant Patients: A Prospective Case-Control Study.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 3, p. 398, doi. 10.3390/diagnostics11030398
By:
- Cosma, Stefano;
- Carosso, Andrea Roberto;
- Borella, Fulvio;
- Cusato, Jessica;
- Bovetti, Marialuisa;
- Bevilacqua, Federica;
- Carosso, Marco;
- Gervasoni, Fiammetta;
- Sciarrone, Andrea;
- Marozio, Luca;
- Revelli, Alberto;
- Rolfo, Alessandro;
- Filippini, Claudia;
- Ghisetti, Valeria;
- Di Perri, Giovanni;
- Benedetto, Chiara;
- Blaumeiser, Bettina
Publication type:
Article
Non‐invasive prenatal testing detects blood chimerism in dizygotic twins.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 2, p. 236, doi. 10.1002/pd.6082
By:
- Janicki, Ewa;
- Janssens, Katrien;
- Blaumeiser, Bettina
Publication type:
Article
Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study.
Published in:
Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1272, doi. 10.1002/pd.5751
By:
- Muys, Joke;
- Jacquemyn, Yves;
- Blaumeiser, Bettina;
- Bourlard, Laura;
- Brison, Nathalie;
- Bulk, Saskia;
- Chiarappa, Patrizia;
- De Leener, Anne;
- De Rademaeker, Marjan;
- Désir, Julie;
- Destrée, Anne;
- Devriendt, Koenraad;
- Dheedene, Annelies;
- Duquenne, Armelle;
- Fieuw, Annelies;
- Fransen, Erik;
- Gatot, Jean‐Stéphane;
- Jamar, Mauricette;
- Janssens, Sandra;
- Kerstjens, Jorien
Publication type:
Article
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Published in:
2018
By:
- Muys, Joke;
- Blaumeiser, Bettina;
- Jacquemyn, Yves;
- Bandelier, Claude;
- Brison, Nathalie;
- Bulk, Saskia;
- Chiarappa, Patrizia;
- Courtens, Winnie;
- De Leener, Anne;
- De Rademaeker, Marjan;
- Désir, Julie;
- Destrée, Anne;
- Devriendt, Koenraad;
- Dheedene, Annelies;
- Fieuw, Annelies;
- Fransen, Erik;
- Gatot, Jean‐Stéphane;
- Holmgren, Philip;
- Jamar, Mauricette;
- Janssens, Sandra
Publication type:
journal article
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.
Published in:
2016
By:
- Janssens, Katrien;
- Deiteren, Kathleen;
- Verlinden, Anke;
- Rooms, Liesbeth;
- Beckers, Sigri;
- Holmgren, Philip;
- Vermeulen, Katrien;
- Maes, Marie‐Berthe;
- Mortier, Geert;
- Blaumeiser, Bettina
Publication type:
journal article
Prenatal diagnosis of Pfeiffer syndrome type II.
Published in:
Prenatal Diagnosis, 2004, v. 24, n. 8, p. 644, doi. 10.1002/pd.960
By:
- Blaumeiser, Bettina;
- Loquet, Philip;
- Wuyts, Wim;
- Nöthen, Markus M.
Publication type:
Article
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Published in:
Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9475
By:
- Caciotti, Anna;
- Donati, Maria Alice;
- Procopio, Elena;
- Filocamo, Mirella;
- Kleijer, Wim;
- Wuyts, Wim;
- Blaumeiser, Bettina;
- d'Azzo, Alessandra;
- Simi, Lisa;
- Orlando, Claudio;
- McKenzie, Fiona;
- Fiumara, Agata;
- Zammarchi, Enrico;
- Morrone, Amelia
Publication type:
Article
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
Published in:
Journal of Bone & Mineral Research, 2023, v. 38, n. 11, p. 1718, doi. 10.1002/jbmr.4914
By:
- Guillemyn, Brecht;
- De Saffel, Hanna;
- Bek, Jan Willem;
- Tapaneeyaphan, Piyanoot;
- De Clercq, Adelbert;
- Jarayseh, Tamara;
- Debaenst, Sophie;
- Willaert, Andy;
- De Rycke, Riet;
- Byers, Peter H;
- Rosseel, Toon;
- Coucke, Paul;
- Blaumeiser, Bettina;
- Syx, Delfien;
- Malfait, Fransiska;
- Symoens, Sofie
Publication type:
Article

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