Works by Beemer, Frits A

Results: 30

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism.

Published in:

Neurogenetics, 2011, v. 12, n. 4, p. 315, doi. 10.1007/s10048-011-0297-2

By:

Daalen, Emma;
Kemner, Chantal;
Verbeek, Nienke;
Zwaag, Bert;
Dijkhuizen, Trijnie;
Rump, Patrick;
Houben, Renske;
Slot, Ruben;
Jonge, Maretha;
Staal, Wouter;
Beemer, Frits;
Vorstman, Jacob;
Burbach, J.;
Amstel, Hans;
Hochstenbach, Ron;
Brilstra, Eva;
Poot, Martin

Publication type:

Article

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568

By:

Guo, Tingwei;
McDonald-McGinn, Donna;
Blonska, Anna;
Shanske, Alan;
Bassett, Anne S.;
Chow, Eva;
Bowser, Mark;
Sheridan, Molly;
Beemer, Frits;
Devriendt, Koen;
Swillen, Ann;
Breckpot, Jeroen;
Digilio, Maria C.;
Marino, Bruno;
Dallapiccola, Bruno;
Carpenter, Courtney;
Zheng, Xin;
Johnson, Jacob;
Chung, Jonathan;
Higgins, Anne Marie

Publication type:

Article

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9061

By:

van der Hout, Annemarie H.;
Verlind, Edwin;
Beemer, Frits A.;
Buys, Charles H.C.M.;
Hofstra, Robert M.W.;
Scheffer, Hans

Publication type:

Article

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23

By:

Hoornaert, Kristien P.;
Vereecke, Inge;
Dewinter, Chantal;
Rosenberg, Thomas;
Beemer, Frits A.;
Leroy, Jules G.;
Bendix, Laila;
Björck, Erik;
Bonduelle, Maryse;
Boute, Odile;
Cormier-Daire, Valerie;
De Die-Smulders, Christine;
Dieux-Coeslier, Anne;
Dollfus, Hélène;
Elting, Mariet;
Green, Andrew;
Guerci, Veronica I.;
Hennekam, Raoul C. M.;
Hilhorts-Hofstee, Yvonne;
Holder, Muriel

Publication type:

Article

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Published in:

2010

By:

Hoornaert, Kristien P;
Vereecke, Inge;
Dewinter, Chantal;
Rosenberg, Thomas;
Beemer, Frits A;
Leroy, Jules G;
Bendix, Laila;
Björck, Erik;
Bonduelle, Maryse;
Boute, Odile;
Cormier-Daire, Valerie;
De Die-Smulders, Christine;
Dieux-Coeslier, Anne;
Dollfus, Hélène;
Elting, Mariet;
Green, Andrew;
Guerci, Veronica I;
Hennekam, Raoul CM;
Hilhorts-Hofstee, Yvonne;
Holder, Muriel

Publication type:

Correction Notice

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899

By:

Flipsen-ten Berg, Klara;
van Hasselt, Peter M.;
Eleveld, Marc J.;
van der Wijst, Suzanne E.;
Hol, Frans A.;
de Vroede, Monique A. M.;
Beemer, Frits A.;
Hochstenbach, P. F. Ron;
Poot, Martin

Publication type:

Article

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Published in:

2004

By:

Sjarif, Damayanti R.;
Hellerud, Christina;
van Amstel, Johannes K. Ploos;
Kleijer, Willem J.;
Sperl, Wolfgang;
Lacombe, Didier;
Sass, Jõrn Oliver;
Beemer, Frits A.;
Duran, Marinus;
Poll-The, Bwee Tien

Publication type:

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

2006

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Correction Notice

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M.;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R.;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A.;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W.;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L.;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Article

Identification of the familial cylindromatosis tumour-suppressor gene.

Published in:

Nature Genetics, 2000, v. 25, n. 2, p. 160, doi. 10.1038/76006

By:

Bignell, Graham R.;
Warren, William;
Seal, Sheila;
Takahashi, Meiko;
Rapley, Elizabeth;
Barfoot, Rita;
Green, Helen;
Brown, Carolanne;
Biggs, Patrick J.;
Lakhani, Sunil R.;
Jones, Christopher;
Hansen, Juliana;
Blair, Edward;
Hofmann, Benedikt;
Siebert, Reiner;
Turner, Gwen;
Evans, D. Gareth;
Schrander-Stumpel, Connie;
Beemer, Frits A.

Publication type:

Article

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.

Published in:

Nature Genetics, 2000, v. 24, n. 4, p. 342, doi. 10.1038/74155

By:

van den Boogaard, Marie-José H.;
Dorland, Marinus;
Beemer, Frits A.;
van Amstel, Hans Kristian Ploos

Publication type:

Article

QUOTE-gene<sup>ca</sup>: development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.

Published in:

Psycho-Oncology, 2005, v. 14, n. 5, p. 361, doi. 10.1002/pon.853

By:

Pieterse, Arwen;
van Dulmen, Sandra;
Ausems, Margreet;
Schoemaker, Angela;
Beemer, Frits;
Bensing, Jozien

Publication type:

Article

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism.

Published in:

PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005324

By:

van der Zwaag, Bert;
Franke, Lude;
Poot, Martin;
Hochstenbach, Ron;
Spierenburg, Henk A.;
Vorstman, Jacob A. S.;
van Daalen, Emma;
de Jonge, Maretha V.;
Verbeek, Nienke E.;
Brilstra, Eva H.;
van 't Slot, Ruben;
Ophoff, Roel A.;
van Es, Michael A.;
Blauw, Hylke M.;
Veldink, Jan H.;
Buizer-Voskamp, Jacobine E.;
Beemer, Frits A.;
van den Berg, Leonard H.;
Wijmenga, Cisca;
van Amstel, Hans Kristian Ploos

Publication type:

Article

Short rib syndrome Beemer-Langer type, a short history.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 248, doi. 10.1002/ajmg.a.38514

By:

Beemer, Frits A.

Publication type:

Article

Behavior in preschool children with the 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 94, doi. 10.1002/ajmg.a.35685

By:

Klaassen, Petra;
Duijff, Sasja;
Swanenburg de Veye, Henriette;
Vorstman, Jacob;
Beemer, Frits;
Sinnema, Gerben

Publication type:

Article

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512

By:

Herman, Sean B.;
Guo, Tingwei;
McGinn, Donna M. McDonald;
Blonska, Anna;
Shanske, Alan L.;
Bassett, Anne S.;
Chow, Eva W.C.;
Bowser, Mark;
Sheridan, Molly;
Beemer, Frits;
Devriendt, Koen;
Swillen, Ann;
Breckpot, Jeroen;
Digilio, M. Cristina;
Marino, Bruno;
Dallapiccola, Bruno;
Carpenter, Courtney;
Zheng, Xin;
Johnson, Jacob;
Chung, Jonathan

Publication type:

Article

Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?

Published in:

Journal of Genetic Counseling, 2000, v. 9, n. 3, p. 253, doi. 10.1023/A:1009468005966

By:

Grosfeld, Frans;
Lips, Cees;
Beemer, Frits;
ten Kroode, Herman

Publication type:

Article

Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 388, doi. 10.1007/s00439-002-0782-7

By:

Verbeek, Dineke S.;
Schelhaas, Jurgen H.;
Ippel, Elly F.;
Beemer, Frits A.;
Pearson, Peter L.;
Sinke, Richard J.

Publication type:

Article

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227

By:

Takahashi, Meiko;
Rapley, Elizabeth;
Biggs, Patrick J.;
Lakhani, Sunil R;
Cooke, David;
Hansen, Juliana;
Blair, Edward;
Hofmann, B.;
Siebert, Reiner;
Turner, Gwen;
Evans, D. Gareth;
Schrander-Stumpel, C.;
Beemer, Frits A.;
van Vloten, Willem A.;
Breuning, Martijn H.;
van den Ouweland, Ans;
Halley, Dicky;
Delpech, Bertrand;
Cleveland, Mark;
Leigh, Irene

Publication type:

Article

Infant mortality, ethnicity, and genetically determined disorders in The Netherlands.

Published in:

European Journal of Public Health, 2006, v. 16, n. 3, p. 291, doi. 10.1093/eurpub/cki201

By:

Schulpen, Tom W. J.;
Van Wieringen, Joke C. M.;
Van Brummen, Pien J.;
Van Riel, Jantien M.;
Beemer, Frits A.;
Westers, Paul;
Huber, Jonne

Publication type:

Article

Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion.

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 6, p. 790, doi. 10.1002/ajmg.b.32441

By:

Klaassen, Petra;
Duijff, Sasja;
Swanenburg de Veye, Henriëtte;
Beemer, Frits;
Sinnema, Gerben;
Breetvelt, Elemi;
Schappin, Renske;
Vorstman, Jacob

Publication type:

Article

Isozyme pattern of enolase of childhood tumors.

Published in:

1984

By:

Beemer, Frits A.;
Vlug, Annie M. C.;
Van Veelen, Cees W. M.;
Rijksen, Gert;
Staal, Gerard E. J.;
Beemer, F A;
Vlug, A M;
van Veelen, C W;
Rijksen, G;
Staal, G E

Publication type:

journal article

Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT<sup>158</sup> Allele.

Published in:

Neuropsychopharmacology, 2009, v. 34, n. 3, p. 739, doi. 10.1038/npp.2008.132

By:

Vorstman, Jacob A. S.;
Turetsky, Bruce I.;
Sijmens-Morcus, Monique E. J.;
de Sain, Monique G.;
Dorland, Bert;
Sprong, Mirjam;
Rappaport, Eric F.;
Beemer, Frits A.;
Emanuel, Beverly S.;
Kahn, René S.;
van Engeland, Herman;
Kemner, Chantal

Publication type:

Article

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1503, doi. 10.1093/hmg/ddi159

By:

Navarro, Claire L.;
Cadiñanos, Juan;
Sandre-Giovannoli, Annachiara De;
Bernard, Rafaëlle;
Courrier, Sébastien;
Boccaccio, Irène;
Boyer, Amandine;
Kleijer, Wim J.;
Wagner, Anja;
Giuliano, Fabienne;
Beemer, Frits A.;
Freije, Jose M.;
Cau, Pierre;
Hennekam, Raoul C.M.;
López-Otín, Carlos;
Badens, Catherine;
Lévy, Nicolas

Publication type:

Article

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265

By:

Navarro, Claire L.;
De Sandre-Giovannoli, Annachiara;
Bernard, Rafaëlle;
Boccaccio, Irène;
Boyer, Amandine;
Geneviève, David;
Hadj-Rabia, Smail;
Gaudy-Marqueste, Caroline;
Smitt, Henk Sillevis;
Vabres, Pierre;
Faivre, Laurence;
Verloes, Alain;
Van Essen, Ton;
Flori, Elisabeth;
Hennekam, Raoul;
Beemer, Frits A.;
Laurent, Nicole;
Le Merrer, Martine;
Cau, Pierre;
Lévy, Nicolas

Publication type:

Article

Knee radiography in the diagnosis of skeletal dysplasias.

Published in:

2006

By:

Kwee, Thomas C.;
Beemer, Frits A.;
Beek, Frederik J. A.;
Nievelstein, Rutger A. J.

Publication type:

journal article

Cancer Genetic Counseling: Communication and Counselees’ Post-Visit Satisfaction, Cognitions, Anxiety, and Needs Fulfillment.

Published in:

Journal of Genetic Counseling, 2007, v. 16, n. 1, p. 85

By:

Alexandra van Dulmen;
Frits Beemer;
Margreet Ausems

Publication type:

Article

Morphological Features in Children with Autism Spectrum Disorders: A Matched Case-Control Study.

Published in:

Journal of Autism & Developmental Disorders, 2011, v. 41, n. 1, p. 23, doi. 10.1007/s10803-010-1018-7

By:

Ozgen, Heval;
Hellemann, Gerhard S.;
Stellato, Rebecca K.;
Lahuis, Bertine;
van Daalen, Emma;
Staal, Wouterb G.;
Rozendal, Marije;
Hennekam, Raoul C.;
Beemer, Frits A.;
van Engeland, Herman

Publication type:

Article

A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 2, p. 322, doi. 10.1007/s10803-008-0627-x

By:

Ozgen, Heval;
Staal, Wouter;
Barber, John;
Jonge, Maretha;
Eleveld, Marc;
Beemer, Frits;
Hochstenbach, Ron;
Poot, Martin

Publication type:

Article

VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2).

Published in:

Clinical Genetics, 1998, v. 53, n. 1, p. 74, doi. 10.1111/j.1399-0004.1998.tb02586.x

By:

Giltay, Jacques C.;
Bokma, Jan A.;
France, Henny;
Beemer, Frits A.

Publication type:

Article