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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Published in:
Human Genetics, 2021, v. 140, n. 12, p. 1775, doi. 10.1007/s00439-021-02384-y
By:
- Sorokina, Elena A.;
- Reis, Linda M.;
- Thompson, Samuel;
- Agre, Katherine;
- Babovic-Vuksanovic, Dusica;
- Ellingson, Marissa S.;
- Hasadsri, Linda;
- van Bever, Yolande;
- Semina, Elena V.
Publication type:
Article
Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.
Published in:
2016
By:
- Hondel, Desiree;
- Wijers, Charlotte;
- Bever, Yolande;
- Klein, Annelies;
- Marcelis, Carlo;
- Blaauw, Ivo;
- Sloots, Cornelius;
- IJsselstijn, Hanneke;
- van den Hondel, Desiree;
- Wijers, Charlotte H W;
- van Bever, Yolande;
- de Klein, Annelies;
- Marcelis, Carlo L M;
- de Blaauw, Ivo;
- Sloots, Cornelius E J
Publication type:
journal article
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1376, doi. 10.1002/ajmg.a.35858
By:
- Meuwissen, Marije E.C.;
- Lequin, Maarten H.;
- Bindels‐de Heus, Karen;
- Bruggenwirth, Hennie T.;
- Knapen, Maarten F.C.M.;
- Dalinghaus, Michiel;
- de Coo, René;
- van Bever, Yolande;
- Winkelman, Beerend H.J.;
- Mancini, Grazia M.S.
Publication type:
Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Published in:
PLoS Genetics, 2021, v. 17, n. 8, p. 1, doi. 10.1371/journal.pgen.1009698
By:
- Kuil, Laura E.;
- MacKenzie, Katherine C.;
- Tang, Clara S.;
- Windster, Jonathan D.;
- Le, Thuy Linh;
- Karim, Anwarul;
- de Graaf, Bianca M.;
- van der Helm, Robert;
- van Bever, Yolande;
- Sloots, Cornelius E. J.;
- Meeussen, Conny;
- Tibboel, Dick;
- de Klein, Annelies;
- Wijnen, René M. H.;
- Amiel, Jeanne;
- Lyonnet, Stanislas;
- Garcia-Barcelo, Maria-Mercè;
- Tam, Paul K. H.;
- Alves, Maria M.;
- Brooks, Alice S.
Publication type:
Article
Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
Published in:
Sexual Development, 2018, v. 12, n. 1-3, p. 145, doi. 10.1159/000479946
By:
- van Bever, Yolande;
- Wolffenbuttel, Katja P.;
- Brüggenwirth, Hennie T.;
- Blom, Eric;
- de Klein, Annelies;
- Eussen, Bert H.J.;
- van der Windt, Florijn;
- Hannema, Sabine E.;
- Dessens, Arianne B.;
- Dorssers, Lambert C.J.;
- Biermann, Katharina;
- Hersmus, Remko;
- de Rijke, Yolanda B.;
- Looijenga, Leendert H.J.
Publication type:
Article
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 9, p. 986, doi. 10.1038/ejhg.2012.43
By:
- Knijnenburg, Jeroen;
- van Bever, Yolande;
- Hulsman, Lorette O M;
- van Kempen, Chantal A P;
- Bolman, Galhana M;
- van Loon, Rosa Laura E;
- Beverloo, H Berna;
- van Zutven, Laura J C M
Publication type:
Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
By:
- Paulussen, Aimée D. C.;
- Schrander-Stumpel, Constance T.;
- Tserpelis, Demis C. J.;
- Spee, Matteus K. M.;
- Stegmann, Alexander P. A.;
- Mancini, Grazia M.;
- Brooks, Alice S.;
- Collée, Margriet;
- Maat-Kievit, Anneke;
- Simon, Marleen E. H.;
- van Bever, Yolande;
- Stolte-Dijkstra, Irene;
- Kerstjens-Frederikse, Wilhelmina S.;
- Herkert, Johanna C.;
- van Essen, Anthonie J.;
- Lichtenbelt, Klaske D.;
- van Haeringen, Arie;
- Kwee, Mei L.;
- Lachmeijer, Augusta M. A.;
- Tan-Sindhunata, Gita M. B.
Publication type:
Article
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Published in:
European Journal of Endocrinology, 2024, v. 190, n. 1, p. 34, doi. 10.1093/ejendo/lvad174
By:
- Cools, Martine;
- Grijp, Celien;
- Neirinck, Jana;
- Tavernier, Simon J;
- Schelstraete, Petra;
- Velde, Julie Van De;
- Morbée, Lieve;
- Baere, Elfride De;
- Bonroy, Carolien;
- Bever, Yolande van;
- Bruggenwirth, Hennie;
- Vermont, Clementien;
- Hannema, Sabine E;
- Rijke, Yolanda De;
- Abdulhadi-Atwan, Maha;
- Zangen, David;
- Verdin, Hannah;
- Haerynck, Filomeen
Publication type:
Article
Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.
Published in:
2024
By:
- Hannema, Sabine E.;
- Wolffenbuttel, Katja P.;
- van Bever, Yolande;
- Bruggenwirth, Hennie T.;
- Hersmus, Remko;
- Oosterhuis, J. Wolter;
- Looijenga, Leendert H. J.
Publication type:
Letter to the Editor
Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.
Published in:
Clinical Endocrinology, 2023, v. 99, n. 1, p. 58, doi. 10.1111/cen.14909
By:
- Hannema, Sabine E.;
- Wolffenbuttel, Katja P.;
- van Bever, Yolande;
- Brüggenwirth, Hennie T.;
- van den Berg, Sjoerd A. A.;
- Hersmus, Remko;
- Oosterhuis, J. Wolter;
- Looijenga, Leendert H. J.
Publication type:
Article
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 571, doi. 10.1093/hmg/ddv497
By:
- Halim, Danny;
- Hofstra, Robert M. W.;
- Signorile, Luca;
- Verdijk, Rob M.;
- van der Werf, Christine S.;
- Sribudiani, Yunia;
- Brouwer, Rutger W. W.;
- van IJcken, Wilfred F. J.;
- Dahl, Niklas;
- Verheij, Joke B. G. M.;
- Baumann, Clarisse;
- Kerner, John;
- van Bever, Yolande;
- Galjart, Niels;
- Wijnen, Rene M. H.;
- Tibboel, Dick;
- Burns, Alan J.;
- Muller, Françoise;
- Brooks, Alice S.;
- Alves, Maria M.
Publication type:
Article
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 5, p. 1026, doi. 10.1093/hmg/dds507
By:
- Beck, Tyler F.;
- Veenma, Danielle;
- Shchelochkov, Oleg A.;
- Yu, Zhiyin;
- Kim, Bum Jun;
- Zaveri, Hitisha P.;
- van Bever, Yolande;
- Choi, Sunju;
- Douben, Hannie;
- Bertin, Terry K.;
- Patel, Pragna I.;
- Lee, Brendan;
- Tibboel, Dick;
- de Klein, Annelies;
- Stockton, David W.;
- Justice, Monica J.;
- Scott, Daryl A.
Publication type:
Article
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 2, p. 162, doi. 10.1002/pd.6205
By:
- van Bever, Yolande;
- Groenenberg, Irene A. L.;
- Knapen, Maarten F. C. M.;
- Dessens, Arianne B.;
- Hannema, Sabine E.;
- Wolffenbuttel, Katja P.;
- Diderich, Karin E. M.;
- Hoefsloot, Lies H.;
- Srebniak, Malgorzata I.;
- Bruggenwirth, Hennie T.
Publication type:
Article
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/9628049
By:
- Douben, Hannie;
- Hoogeveen-Westerveld, Marianne;
- Nellist, Mark;
- Louwen, Jesse;
- Haan, Marian Kroos-de;
- Punt, Mattijs;
- van Ommeren, Babeth;
- van Unen, Leontine;
- Elfferich, Peter;
- Kasteleijn, Esmee;
- van Bever, Yolande;
- van Vliet, Margreethe;
- Oostenbrink, Rianne;
- Saris, Jasper J.;
- Wagner, Anja;
- van Ierland, Yvette;
- van Ham, Tjakko;
- van Minkelen, Rick
Publication type:
Article
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2130, doi. 10.1002/humu.24487
By:
- Douben, Hannie C. W.;
- Nellist, Mark;
- van Unen, Leontine;
- Elfferich, Peter;
- Kasteleijn, Esmee;
- Hoogeveen‐Westerveld, Marianne;
- Louwen, Jesse;
- van Veghel‐Plandsoen, Monique;
- de Valk, Walter;
- Saris, Jasper J.;
- Hendriks, Femke;
- Korpershoek, Esther;
- Hoefsloot, Lies H.;
- van Vliet, Margreethe;
- van Bever, Yolande;
- van de Laar, Ingrid;
- Aten, Emmelien;
- Lachmeijer, Augusta M. A.;
- Taal, Walter;
- van den Bersselaar, Lisa
Publication type:
Article
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1377, doi. 10.1002/humu.24425
By:
- van Woerden, Geeske M.;
- Senden, Richelle;
- de Konink, Charlotte;
- Trezza, Rossella A.;
- Baban, Anwar;
- Bassetti, Jennifer A.;
- van Bever, Yolande;
- Bird, Lynne M.;
- van Bon, Bregje W.;
- Brooks, Alice S.;
- Guan, Qiaoning;
- Klee, Eric W.;
- Marcelis, Carlo;
- Rosado, Joel M.;
- Schimmenti, Lisa A.;
- Shikany, Amy R.;
- Terhal, Paulien A.;
- Nicole Weaver, Kathryn;
- Wessels, Marja W.;
- van Wieringen, Hester
Publication type:
Article
Legius syndrome in fourteen families.
Published in:
Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404
By:
- Denayer, Ellen;
- Chmara, Magdalena;
- Brems, Hilde;
- Kievit, Anneke Maat;
- van Bever, Yolande;
- Van den Ouweland, Ans MW;
- Van Minkelen, Rick;
- de Goede-Bolder, Arja;
- Oostenbrink, Rianne;
- Lakeman, Phillis;
- Beert, Eline;
- Ishizaki, Takuma;
- Mori, Tomoaki;
- Keymolen, Kathelijn;
- Van den Ende, Jenneke;
- Mangold, Elisabeth;
- Peltonen, Sirkku;
- Brice, Glen;
- Rankin, Julia;
- Van Spaendonck-Zwarts, Karin Y
Publication type:
Article
Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.
Published in:
Genes, 2021, v. 12, n. 10, p. 1595, doi. 10.3390/genes12101595
By:
- Brosens, Erwin;
- Brouwer, Rutger W. W.;
- Douben, Hannie;
- van Bever, Yolande;
- Brooks, Alice S.;
- Wijnen, Rene M. H.;
- van IJcken, Wilfred F. J.;
- Tibboel, Dick;
- Rottier, Robbert J.;
- de Klein, Annelies
Publication type:
Article
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (Communicated by Ulf Landegren).
Published in:
Human Mutation, 2004, v. 23, n. 1, p. 17, doi. 10.1002/humu.10300
By:
- Liesbeth Rooms;
- Edwin Reyniers;
- Rob van Luijk;
- Stefaan Scheers;
- Jan Wauters;
- Berten Ceulemans;
- Jenneke Van Den Ende;
- Yolande Van Bever;
- R. Frank Kooy
Publication type:
Article

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