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A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy.
Published in:
Archives of Gynecology & Obstetrics, 2007, v. 276, n. 5, p. 533, doi. 10.1007/s00404-007-0378-5
By:
- Pelikan, Harold M. P.;
- Bijlsma, Emilia K.;
- van Wijngaarden, Willem J.
Publication type:
Article
Disease Onset in Huntington's Disease: When Is the Conversion?
Published in:
Movement Disorders Clinical Practice, 2021, v. 8, n. 3, p. 352, doi. 10.1002/mdc3.13148
By:
- Oosterloo, Mayke;
- Greef, Bianca T.A.;
- Bijlsma, Emilia K.;
- Durr, Alexandra;
- Tabrizi, Sarah J.;
- Estevez‐Fraga, Carlos;
- Die‐Smulders, Christine E.M.;
- Roos, Raymund A.C.
Publication type:
Article
Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk.
Published in:
2001
By:
- Janse, Arieke J.;
- Tan, Wee Fu;
- Majoie, Charles B. L. M.;
- Bijlsma, Emilia K.;
- Janse, A J;
- Tan, W F;
- Majoie, C B;
- Bijlsma, E K
Publication type:
journal article
The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study.
Published in:
Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 153, doi. 10.1002/jgc4.1631
By:
- Severijns, Yil;
- Heijmans, Maartje W. F.;
- de Die‐Smulders, Christine E. M.;
- Bijlsma, Emilia K.;
- Corsten‐Janssen, Nicole;
- Joosten, Sara J. R.;
- van Kuijk, Sander M. J.;
- Lichtenbelt, Klaske D.;
- Ottenheim, Cecile P. E.;
- Stuurman, Kyra E.;
- Tan‐Sindhunata, Gita M. B.;
- de Vries, Hein;
- van Osch, Liesbeth A. D. M.
Publication type:
Article
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
Published in:
2016
By:
- de Winter, Channa F.;
- Baas, Melanie;
- Bijlsma, Emilia K.;
- van Heukelingen, John;
- Routledge, Sue;
- Hennekam, Raoul C. M.
Publication type:
journal article
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Published in:
European Journal of Pediatrics, 2024, v. 183, n. 1, p. 345, doi. 10.1007/s00431-023-05279-4
By:
- van Slobbe, Michelle;
- van Haeringen, Arie;
- Vissers, Lisenka E. L. M.;
- Bijlsma, Emilia K.;
- Rutten, Julie W.;
- Suerink, Manon;
- Nibbeling, Esther A. R.;
- Ruivenkamp, Claudia A. L.;
- Koene, Saskia
Publication type:
Article
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 102, doi. 10.1002/ajmg.c.31973
By:
- Cappuccio, Gerarda;
- Brillante, Simona;
- Tammaro, Roberta;
- Pinelli, Michele;
- De Bernardi, Margherita Lucia;
- Gensini, Maria Grazia;
- Bijlsma, Emilia K.;
- Koopmann, Tamara T.;
- Hoffer, Mariette J. V.;
- McDonald, Kimberly;
- Hendon, Laura G.;
- Douzgou, Sofia;
- Deshpande, Charulata;
- D'Arrigo, Stefano;
- Torella, Annalaura;
- Nigro, Vincenzo;
- Franco, Brunella;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 35, doi. 10.1002/ajmg.b.32582
By:
- Quarrell, Oliver W.;
- Clarke, Angus J.;
- Compton, Cecilia;
- de Die‐Smulders, Christine E. M.;
- Fryer, Alan;
- Jenkins, Sian;
- Lahiri, Nayana;
- MacLeod, Rhona;
- Miedzybrodzka, Zosia;
- Morrison, Patrick J.;
- Musgrave, Hannah;
- O'Driscoll, Mary;
- Strong, Mark;
- van Belzen, Martine J.;
- Vermeer, Sascha;
- Verschuuren‐Bemelmans, Corien C.;
- Bijlsma, Emilia K.
Publication type:
Article
Further delineation of phenotypic spectrum of SCN2A‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
By:
- Richardson, Ruth;
- Baralle, Diana;
- Bennett, Christopher;
- Briggs, Tracy;
- Bijlsma, Emilia K.;
- Clayton‐Smith, Jill;
- Constantinou, Panayiotis;
- Foulds, Nicola;
- Jarvis, Joanna;
- Jewell, Rosalyn;
- Johnson, Diana S.;
- McEntagart, Meriel;
- Parker, Michael J.;
- Radley, Jessica A.;
- Robertson, Lisa;
- Ruivenkamp, Claudia;
- Rutten, Julie W.;
- Tellez, James;
- Turnpenny, Peter D.;
- Wilson, Valerie
Publication type:
Article
Molecular characterization of chromosome 22 deletions in schwannomas.
Published in:
Genes, Chromosomes & Cancer, 1992, v. 5, n. 3, p. 201, doi. 10.1002/gcc.2870050305
By:
- Bijlsma, Emilia K.;
- Brouwer-Mladin, Roma;
- Bosch, D. Andries;
- Westerveld, Andries;
- Hulsebos, Theo J. M.
Publication type:
Article
Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal turner syndrome: a pathomorphological study.
Published in:
2014
By:
- van Engelen, Klaartje;
- Bartelings, Margot M;
- Gittenberger-de Groot, Adriana C;
- Baars, Marieke J H;
- Postma, Alex V;
- Bijlsma, Emilia K;
- Mulder, Barbara J M;
- Jongbloed, Monique R M
Publication type:
Journal Article
Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study.
Published in:
Fetal Diagnosis & Therapy, 2014, v. 36, n. 1, p. 59, doi. 10.1159/000357706
By:
- van Engelen, Klaartje;
- Bartelings, Margot M.;
- Gittenberger-de Groot, Adriana C.;
- Baars, Marieke J.H.;
- Postma, Alex V.;
- Bijlsma, Emilia K.;
- Mulder, Barbara J.M.;
- Jongbloed, Monique R.M.
Publication type:
Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
By:
- Snijders Blok, Lot;
- Hiatt, Susan M.;
- Bowling, Kevin M.;
- Prokop, Jeremy W.;
- Engel, Krysta L.;
- Cochran, J. Nicholas;
- Bebin, E. Martina;
- Bijlsma, Emilia K.;
- Ruivenkamp, Claudia A. L.;
- Terhal, Paulien;
- Simon, Marleen E. H.;
- Smith, Rosemarie;
- Hurst, Jane A.;
- The DDD study;
- McLaughlin, Heather;
- Person, Richard;
- Crunk, Amy;
- Wangler, Michael F.;
- Streff, Haley;
- Symonds, Joseph D.
Publication type:
Article
Refinement of the genetic cause of ATR-16.
Published in:
Human Genetics, 2007, v. 122, n. 3/4, p. 283, doi. 10.1007/s00439-007-0399-y
By:
- Harteveld, Cornelis L.;
- Kriek, Marjolein;
- Bijlsma, Emilia K.;
- Erjavec, Zoran;
- Balak, Deepak;
- Phylipsen, Marion;
- Voskamp, Astrid;
- di Capua, Emmanora;
- White, Stefan J.;
- Giordano, Piero C.
Publication type:
Article
Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 3, p. 155, doi. 10.3390/brainsci10030155
By:
- Oosterloo, Mayke;
- Bijlsma, Emilia K.;
- de Die-Smulders, Christine;
- Roos, Raymund A. C.
Publication type:
Article
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 637, doi. 10.1038/ejhg.2012.226
By:
- Koutsopoulos, Olga S;
- Kretz, Christine;
- Weller, Claudia M;
- Roux, Aurelien;
- Mojzisova, Halina;
- Böhm, Johann;
- Koch, Catherine;
- Toussaint, Anne;
- Heckel, Emilie;
- Stemkens, Daphne;
- ter Horst, Simone A J;
- Thibault, Christelle;
- Koch, Muriel;
- Mehdi, Syed Q;
- Bijlsma, Emilia K;
- Mandel, Jean-Louis;
- Vermot, Julien;
- Laporte, Jocelyn
Publication type:
Article
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1394, doi. 10.1038/ejhg.2009.74
By:
- Gijsbers, Antoinet C. J.;
- Lew, Janet Y. K.;
- Bosch, Cathy A. J.;
- Schuurs-Hoeijmakers, Janneke H. M.;
- van Haeringen, Arie;
- den Hollander, Nicolette S.;
- Kant, Sarina G.;
- Bijlsma, Emilia K.;
- Breuning, Martijn H.;
- Bakker, Egbert;
- Ruivenkamp, Claudia A. L.
Publication type:
Article
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 8, p. 961, doi. 10.1038/ejhg.2008.22
By:
- Anttonen, Anna-Kaisa;
- Siintola, Eija;
- Tranebjaerg, Lisbeth;
- Iwata, Nobue K;
- Bijlsma, Emilia K;
- Meguro, Hiroyuki;
- Ichikawa, Yaeko;
- Goto, Jun;
- Kopra, Outi;
- Lehesjoki, Anna-Elina
Publication type:
Article
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 3, p. 386, doi. 10.1093/hmg/ddac200
By:
- McGee, Stacey R;
- Rajamanickam, Shivakumar;
- Adhikari, Sandeep;
- Falayi, Oluwatosin C;
- Wilson, Theresa A;
- Shayota, Brian J;
- Coleman, Jessica A Cooley;
- Skinner, Cindy;
- Caylor, Raymond C;
- Stevenson, Roger E;
- Quaio, Caio Robledo D' Angioli Costa;
- Wilke, Berenice Cunha;
- Bain, Jennifer M;
- Anyane-Yeboa, Kwame;
- Brown, Kaitlyn;
- Greally, John M;
- Bijlsma, Emilia K;
- Ruivenkamp, Claudia A L;
- Politi, Keren;
- Arbogast, Lydia A
Publication type:
Article
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.
Published in:
Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587
By:
- Furia, Francesca;
- Levy, Amanda M.;
- Theunis, Miel;
- Bamshad, Michael J.;
- Bartos, Meghan N.;
- Bijlsma, Emilia K.;
- Brancati, Francesco;
- Cejudo, Lucile;
- Chong, Jessica X.;
- De Luca, Chiara;
- Dean, Sarah Joy;
- Egense, Alena;
- Goel, Himanshu;
- Guenzel, Adam J.;
- Hüffmeier, Ulrike;
- Legius, Eric;
- Mancini, Grazia M. S.;
- Marcos‐Alcalde, Iñigo;
- Niclass, Tanguy;
- Planes, Marc
Publication type:
Article
Prenatal exome sequencing: A useful tool for the fetal neurologist.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 65, doi. 10.1111/cge.14070
By:
- de Koning, Maayke A.;
- Hoffer, Mariëtte J. V.;
- Nibbeling, Esther A. R.;
- Bijlsma, Emilia K.;
- Toirkens, Menno J. P.;
- Adama‐Scheltema, Phebe N.;
- Verweij, E. Joanne;
- Veenhof, Marieke B.;
- Santen, Gijs W. E.;
- Peeters‐Scholte, Cacha M. P. C. D.
Publication type:
Article
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 9, p. 1426, doi. 10.1093/hmg/ddaa051
By:
- Woldegebriel, Rosa;
- Kvist, Jouni;
- Andersson, Noora;
- Õunap, Katrin;
- Reinson, Karit;
- Wojcik, Monica H;
- Bijlsma, Emilia K;
- Hoffer, Mariëtte J V;
- Ryan, Monique M;
- Stark, Zornitza;
- Walsh, Maie;
- Cuppen, Inge;
- Boogaard, Marie-Jose´ H van den;
- Bharucha-Goebel, Diana;
- Donkervoort, Sandra;
- Winchester, Sara;
- Zori, Roberto;
- Bönnemann, Carsten G;
- Maroofian, Reza;
- O'Connor, Emer
Publication type:
Article
Molecular analysis of genetic changes in ependymomas.
Published in:
Genes, Chromosomes & Cancer, 1995, v. 13, n. 4, p. 272, doi. 10.1002/gcc.2870130407
By:
- Bijlsma, Emilia K.;
- Voesten, Annet M. J.;
- Bijleveld, Engelien H.;
- Troost, Dirk;
- Westerveld, Andries;
- Mérel, Philippe;
- Thomas, Gilles;
- Hulsebos, Theo J. M.
Publication type:
Article
Analysis of mutations in the SCH gene in schwannomas.
Published in:
Genes, Chromosomes & Cancer, 1994, v. 11, n. 1, p. 7, doi. 10.1002/gcc.2870110103
By:
- Bijlsma, Emilia K.;
- Merel, Philippe;
- Bosch, D. Andries;
- Westerveld, Andries;
- Delattre, Olivier;
- Thomas, Gilles;
- Hulsebos, Theo J. M.
Publication type:
Article
Amplification of the anonymous marker D17S67 in malignant astrocytomas.
Published in:
Genes, Chromosomes & Cancer, 1994, v. 9, n. 2, p. 148, doi. 10.1002/gcc.2870090213
By:
- Bijlsma, Emilia K.;
- Westerveld, Andries;
- Hulsebos, Theo J. M.;
- Leenstra, Sieger;
- Bosch, D. Andries
Publication type:
Article
Regional fine mapping of the β crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.
Published in:
Genes, Chromosomes & Cancer, 1993, v. 8, n. 2, p. 112, doi. 10.1002/gcc.2870080208
By:
- Bijlsma, Emilia K.;
- Delattre, Olivier;
- Juyn, Jenneke A.;
- Melot, Thomas;
- Westerveld, Andries;
- Dumanski, Jan P.;
- Thomas, Gilles;
- Hulsebos, Theo J. M.
Publication type:
Article
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy.
Published in:
2019
By:
- Meesilpavikkai, Kornvalee;
- Dik, Willem A.;
- Schrijver, Benjamin;
- Helden‐Meeuwsen, Cornelia G.;
- Versnel, Marjan A.;
- Hagen, P. Martin;
- Bijlsma, Emilia K.;
- Ruivenkamp, Claudia A. L.;
- Oele, Margreet J.;
- Dalm, Virgil A. S. H.
Publication type:
Case Study
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.896125
By:
- Beaman, Glenda M.;
- Lopes, Filipa M.;
- Hofmann, Aybike;
- Roesch, Wolfgang;
- Promm, Martin;
- Bijlsma, Emilia K.;
- Patel, Chirag;
- Akinci, Aykut;
- Burgu, Berk;
- Knijnenburg, Jeroen;
- Ho, Gladys;
- Aufschlaeger, Christina;
- Dathe, Sylvia;
- Voelckel, Marie Antoinette;
- Cohen, Monika;
- Yue, Wyatt W.;
- Stuart, Helen M.;
- Mckenzie, Edward A.;
- Elvin, Mark;
- Roberts, Neil A.
Publication type:
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
Further delineation of Malan syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1226, doi. 10.1002/humu.23563
By:
- Priolo, Manuela;
- Schanze, Denny;
- Tatton‐Brown, Katrin;
- Mulder, Paul A.;
- Tenorio, Jair;
- Kooblall, Kreepa;
- Acero, Inés Hernández;
- Alkuraya, Fowzan S.;
- Arias, Pedro;
- Bernardini, Laura;
- Bijlsma, Emilia K.;
- Cole, Trevor;
- Coubes, Christine;
- Dapia, Irene;
- Davies, Sally;
- Di Donato, Nataliya;
- Elcioglu, Nursel H.;
- Fahrner, Jill A.;
- Foster, Alison;
- González, Noelia García
Publication type:
Article
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1542, doi. 10.1002/humu.23303
By:
- Sollis, Elliot;
- Deriziotis, Pelagia;
- Saitsu, Hirotomo;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Hoffer, Mariëtte J.V.;
- Ruivenkamp, Claudia A.L.;
- Alders, Mariëlle;
- Okamoto, Nobuhiko;
- Bijlsma, Emilia K.;
- Plomp, Astrid S.;
- Fisher, Simon E.
Publication type:
Article
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes.
Published in:
Human Mutation, 2015, v. 36, n. 4, p. 454, doi. 10.1002/humu.22761
By:
- Gil‐Rodríguez, María Concepción;
- Deardorff, Matthew A.;
- Ansari, Morad;
- Tan, Christopher A.;
- Parenti, Ilaria;
- Baquero‐Montoya, Carolina;
- Ousager, Lilian B.;
- Puisac, Beatriz;
- Hernández‐Marcos, María;
- Teresa‐Rodrigo, María Esperanza;
- Marcos‐Alcalde, Iñigo;
- Wesselink, Jan‐Jaap;
- Lusa‐Bernal, Silvia;
- Bijlsma, Emilia K.;
- Braunholz, Diana;
- Bueno‐Martinez, Inés;
- Clark, Dinah;
- Cooper, Nicola S.;
- Curry, Cynthia J.;
- Fisher, Richard
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
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Published in:
Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253
By:
- Zweier, Markus;
- Gregor, Anne;
- Zweier, Christiane;
- Engels, Hartmut;
- Sticht, Heinrich;
- Wohlleber, Eva;
- Bijlsma, Emilia K.;
- Holder, Susan E.;
- Zenker, Martin;
- Rossier, Eva;
- Grasshoff, Ute;
- Johnson, Diana S.;
- Robertson, Lisa;
- Firth, Helen V.;
- Cornelia Kraus;
- Ekici, Arif B.;
- Reis, André;
- Rauch, Anita
Publication type:
Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Published in:
Neurogenetics, 2021, v. 22, n. 4, p. 263, doi. 10.1007/s10048-021-00655-4
By:
- Kloth, Katja;
- Lozic, Bernarda;
- Tagoe, Julia;
- Hoffer, Mariëtte J. V.;
- Van der Ven, Amelie;
- Thiele, Holger;
- Altmüller, Janine;
- Kubisch, Christian;
- Au, Ping Yee Billie;
- Denecke, Jonas;
- Bijlsma, Emilia K.;
- Lessel, Davor
Publication type:
Article
A G→A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 3, p. 393, doi. 10.1093/hmg/7.3.393
By:
- De Klein, Annelies;
- Riegman, Peter H.J.;
- Bijlsma, Emilia K.;
- Heldoorn, Anneliek;
- Muijtjens, Manja;
- den Bakker, Michael A.;
- Avezaat, Cees J.J.;
- Zwarthoff, Ellen C.
Publication type:
Article

Found: 36