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The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors--Is Pharmacogenetics the Key?
Published in:
International Journal of Molecular Sciences, 2016, v. 17, n. 8, p. 1333, doi. 10.3390/ijms17081333
By:
- Daud, Aizati N. A.;
- Bergman, Jorieke E. H.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Groen, Henk;
- Wilffert, Bob
Publication type:
Article
Concordant symptomatic intracranial aneurysm in a monozygotic twin: a case report and review of the literature.
Published in:
2009
By:
- Ter Laan, Mark;
- Kerstjens-Frederikse, Wilhelmina S.;
- Metzemaekers, Jan D. M.;
- van Dijk, J. Marc C.;
- Groen, Rob J. M.
Publication type:
journal article
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Published in:
European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2683, doi. 10.1007/s00431-023-04909-1
By:
- Olde Keizer, Richelle A. C. M.;
- Marouane, Abderrahim;
- Kerstjens-Frederikse, Wilhelmina S.;
- Deden, A. Chantal;
- Lichtenbelt, Klaske D.;
- Jonckers, Tinneke;
- Vervoorn, Marieke;
- Vreeburg, Maaike;
- Henneman, Lidewij;
- de Vries, Linda S.;
- Sinke, Richard J.;
- Pfundt, Rolph;
- Stevens, Servi J. C.;
- Andriessen, Peter;
- van Lingen, Richard A.;
- Nelen, Marcel;
- Scheffer, Hans;
- Stemkens, Daphne;
- Oosterwijk, Cor;
- van Amstel, Hans Kristian Ploos
Publication type:
Article
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2152, doi. 10.1002/ajmg.a.61743
By:
- Aukema, Sietse M.;
- ten Brinke, Gerdien A.;
- Timens, Wim;
- Vos, Yvonne J.;
- Accord, Ryan E.;
- Kraft, Karianne E.;
- Santing, Michiel J.;
- Morssink, Leonard P.;
- Streefland, Esther;
- Diemen, Cleo C.;
- Vrijlandt, Elianne JLE;
- Hulzebos, Christian V.;
- Kerstjens‐Frederikse, Wilhelmina S.
Publication type:
Article
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3003, doi. 10.1002/ajmg.a.36747
By:
- CorstEN ‐ JanssEN, Nicole;
- du Marchie Sarvaas, Gideon J.;
- KerstjENs ‐ Frederikse, Wilhelmina S.;
- Hoefsloot, Lies H.;
- van Beynum, Ingrid M.;
- Kapusta, Livia;
- van RavENswaaij ‐ Arts, Conny M.A.
Publication type:
Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
By:
- Hanemaaijer, Nicolien M;
- Sikkema-Raddatz, Birgit;
- van der Vries, Gerben;
- Dijkhuizen, Trijnie;
- Hordijk, Roel;
- van Essen, Anthonie J;
- Veenstra-Knol, Hermine E;
- Kerstjens-Frederikse, Wilhelmina S;
- Herkert, Johanna C;
- Gerkes, Erica H;
- Leegte, Lamberta K;
- Kok, Klaas;
- Sinke, Richard J;
- van Ravenswaaij-Arts, Conny M A
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
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02657-x
By:
- Engwerda, Aafke;
- Frentz, Barbara;
- Rraku, Eleana;
- de Souza, Nadia F. Simoes;
- Swertz, Morris A.;
- Plantinga, Mirjam;
- Kerstjens-Frederikse, Wilhelmina S.;
- Ranchor, Adelita V.;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02658-w
By:
- Engwerda, Aafke;
- Kerstjens-Frederikse, Wilhelmina S.;
- Corsten-Janssen, Nicole;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02670-0
By:
- Rraku, Eleana;
- Kerstjens-Frederikse, Wilhelmina S.;
- Swertz, Morris A.;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.;
- Engwerda, Aafke
Publication type:
Article
Knowledge and attitude regarding pharmacogenetics among formerly pregnant women in the Netherlands and their interest in pharmacogenetic research.
Published in:
2017
By:
- Daud, Aizati N. A.;
- Bergsma, Eefke L.;
- Bergman, Jorieke E. H.;
- De Walle, Hermien E. K.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Bijker, Bert J.;
- Hak, Eelko;
- Wilffert, Bob
Publication type:
journal article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
By:
- Pagnamenta, Alistair T.;
- Jackson, Adam;
- Perveen, Rahat;
- Beaman, Glenda;
- Petts, Gemma;
- Gupta, Asheeta;
- Hyder, Zerin;
- Chung, Brian Hon‐Yin;
- Kan, Anita Sik‐Yau;
- Cheung, Ka Wang;
- Kerstjens‐Frederikse, Wilhelmina S.;
- Abbott, Kristin M.;
- Elpeleg, Orly;
- Taylor, Jenny C.;
- Banka, Siddharth;
- Ta‐Shma, Asaf
Publication type:
Article
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).
Published in:
2021
By:
- Willemse, Brigitte W. M.;
- van der Crabben, Saskia N.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Timens, Wim;
- van Montfrans, Joris M.;
- Lindemans, Caroline A.;
- Boelens, Jaap Jan;
- Hennus, Marije P.;
- van Haaften, Gijs
Publication type:
Letter
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416
By:
- Paulussen, Aimée D. C.;
- Stegmann, Alexander P. A.;
- Blok, Marinus J.;
- Tserpelis, Demis;
- Posma-Velter, Crool;
- Detisch, Yvonne;
- Smeets, Eric E. J. G. L.;
- Wagemans, Annemieke;
- Schrander, Jaap J. P.;
- van den Boogaard, Marie-José H.;
- van der Smagt, Jasper;
- van Haeringen, Arie;
- Stolte-Dijkstra, Irene;
- Kerstjens-Frederikse, Wilhelmina S.;
- Mancini, Grazia M.;
- Wessels, Marja W.;
- Hennekam, Raoul C. M.;
- Vreeburg, Maaike;
- Geraedts, Joep;
- de Ravel, Thomy
Publication type:
Article
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Published in:
Human Mutation, 2010, v. 31, n. 12, p. E1915, doi. 10.1002/humu.21372
By:
- Hilhorst-Hofstee, Yvonne;
- Rijlaarsdam, Marry EB;
- Scholte, Arthur JHA;
- Swart-van den Berg, Marietta;
- Versteegh, Michel IM;
- van der Schoot-van Velzen, Iris;
- Schäbitz, Hans-Joachim;
- Bijlsma, Emilia K;
- Baars, Marieke J;
- Kerstjens-Frederikse, Wilhelmina S;
- Giltay, Jacques C;
- Hamel, Ben C;
- Breuning, Martijn H;
- Pals, Gerard
Publication type:
Article
P-Glycoprotein-Mediated Drug Interactions in Pregnancy and Changes in the Risk of Congenital Anomalies: A Case-Reference Study.
Published in:
2015
By:
- Daud, Aizati N A;
- Bergman, Jorieke E H;
- Bakker, Marian K;
- Wang, Hao;
- Kerstjens-Frederikse, Wilhelmina S;
- de Walle, Hermien E K;
- Groen, Henk;
- Bos, Jens H J;
- Hak, Eelko;
- Wilffert, Bob
Publication type:
journal article
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13073-020-00775-w
By:
- Li, Shuang;
- van der Velde, K. Joeri;
- de Ridder, Dick;
- van Dijk, Aalt D. J.;
- Soudis, Dimitrios;
- Zwerwer, Leslie R.;
- Deelen, Patrick;
- Hendriksen, Dennis;
- Charbon, Bart;
- van Gijn, Marielle E.;
- Abbott, Kristin;
- Sikkema-Raddatz, Birgit;
- van Diemen, Cleo C.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Sinke, Richard J.;
- Swertz, Morris A.
Publication type:
Article
Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173530
By:
- Daud, Aizati N. A.;
- Bergman, Jorieke E. H.;
- Oktora, Monika P.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Groen, Henk;
- Bos, Jens H.;
- Hak, Eelko;
- Wilffert, Bob
Publication type:
Article

Found: 18