Works matching AU Bijlsma, Emilia

Results: 44

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

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Published in:

Neurogenetics, 2017, v. 18, n. 2, p. 73, doi. 10.1007/s10048-016-0499-8

By:

Cavallin, Mara;
Bijlsma, Emilia;
El Morjani, Adrienne;
Moutton, Sébastien;
Peeters, Els;
Maillard, Camille;
Pedespan, Jean;
Guerrot, Anne-Marie;
Drouin-Garaud, Valérie;
Coubes, Christine;
Genevieve, David;
Bole-Feysot, Christine;
Fourrage, Cecile;
Steffann, Julie;
Bahi-Buisson, Nadia

Publication type:

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

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012

By:

Daniel, Philip B.;
Morgan, Tim;
Alanay, Yasemin;
Bijlsma, Emilia;
Cho, Tae-Joon;
Cole, Trevor;
Collins, Felicity;
David, Albert;
Devriendt, Koen;
Faivre, Laurence;
Ikegawa, Shiro;
Jacquemont, Sebastien;
Jesic, Milos;
Krakow, Deborah;
Liebrecht, Daniela;
Maitz, Silvia;
Marlin, Sandrine;
Morin, Gilles;
Nishikubo, Toshiya;
Nishimura, Gen

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

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

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

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

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

Screening for germ-line mutations in the NF2 Gene.

Published in:

Genes, Chromosomes & Cancer, 1995, v. 12, n. 2, p. 117, doi. 10.1002/gcc.2870120206

By:

Mérel, Philippe;
Hoang-Xuan, Khé;
Sanson, Marc;
Bijlsma, Emilia;
Rouleau, Guy;
Laurent-Puig, Pierre;
Pulst, Stephan;
Baser, Michael;
Lenoir, Gilbert;
Sterkers, Jean Marc;
Philippon, Jacques;
Resche, François;
Mautner, Victor F.;
Fischer, Georges;
Hulsebos, Theo;
Aurias, Alain;
Delattre, Olivier;
Thomas, Gilles

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

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

The Effectiveness of an Online Decision Aid on Reproductive Options for Couples at Risk of Transmitting a Genetic Disease to their Offspring: Protocol for a Randomized Controlled Trial.

Published in:

Health Psychology Bulletin, 2023, v. 7, n. 1, p. 17, doi. 10.5334/hpb.39

By:

SEVERIJNS, YIL;
DE VRIES, HEIN;
TAN-SINDHUNATA, GITA;
STUURMAN, KYRA;
OTTENHEIM, CECILE;
LICHTENBELT, KLASKE;
VAN KUIJK, SANDER;
JOOSTEN, SARA;
HOUWINK, ISA;
CRUTZEN, RIK;
CORSTEN-JANSSEN, NICOLE;
BIJLSMA, EMILIA;
DE DIE-SMULDERS, CHRISTINE;
VAN OSCH, LIESBETH

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

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

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

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

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

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

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

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

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446

By:

Allanson, Judith;
Smith, Amanda;
Hare, Heather;
Albrecht, Beate;
Bijlsma, Emilia;
Dallapiccola, Bruno;
Donti, Emilio;
Fitzpatrick, David;
Isidor, Bertrand;
Lachlan, Katherine;
Le Caignec, Cedric;
Prontera, Paolo;
Raas-Rothschild, Annick;
Rogaia, Daniela;
van Bon, Bregje;
Aradhya, Swaroop;
Crocker, Susan F.;
Jarinova, Olga;
McGowan-Jordan, Jean;
Boycott, Kym

Publication type:

Article

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

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

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

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

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

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

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

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

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

Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3)and Genotype--Phenotype Correlations.

Published in:

Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 601, doi. 10.1046/j.1523-1747.2003.12080.x

By:

Richard, Gabriele;
Brown, Nkecha;
Rouan, Fatima;
Van der Schroeff, Jan-Gerrit;
Bijlsma, Emilia;
Eichenfield, Lawrence F.;
Sybert, Virginia P.;
Greer, Kenneth E.;
Hogan, Peter;
Campanelli, Carmen;
Compton, John G.;
Bale, Sherri J.;
DiGiovanna, John J.;
Uitto, Jouni

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

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

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Published in:

Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0

By:

Ciolfi, Andrea;
Aref-Eshghi, Erfan;
Pizzi, Simone;
Pedace, Lucia;
Miele, Evelina;
Kerkhof, Jennifer;
Flex, Elisabetta;
Martinelli, Simone;
Radio, Francesca Clementina;
Ruivenkamp, Claudia A. L.;
Santen, Gijs W. E.;
Bijlsma, Emilia;
Barge-Schaapveld, Daniela;
Ounap, Katrin;
Siu, Victoria Mok;
Kooy, R. Frank;
Dallapiccola, Bruno;
Sadikovic, Bekim;
Tartaglia, Marco

Publication type:

Article

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2457, doi. 10.1111/j.1528-1167.2010.02742.x

By:

Krepischi, Ana Cristina Victorino;
Knijnenburg, Jeroen;
Bertola, Debora Romeo;
Chong Ae Kim;
Pearson, Peter Lees;
Bijlsma, Emilia;
Szuhai, Karoly;
Kok, Fernando;
Vianna-Morgante, Angela Maria;
Rosenberg, Carla

Publication type:

Article