Bregje W.M. van Bon : rechercher sur Z-Library

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1

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, Christian, Hehir-Kwa, Jayne Y., Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W. M., Willemsen, Marjolein H., Kwint, Michael, Janssen, Irene M., Hoischen, Alexander, Schenck, Ann

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 2.60 MB

english, 2014

2

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-

Journal:

Nature Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2014

3

An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation

Willem M.A. Verhoeven, Bregje Van Bon, Jos I.M. Egger, Alexander Hoischen, Jan C Doelman

Journal:

Acta Neuropsychiatrica

Année:

2010

Langue:

english

Fichier:

PDF, 662 KB

english, 2010

4

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor,

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 356 KB

english, 2012

5

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Santen, Gijs W.E., Aten, Emmelien, Vulto-van Silfhout, Anneke T., Pottinger, Caroline, van Bon, Bregje W.M., van Minderhout, Ivonne J.H.M., Snowdowne, Ronelle, van der Lans, Christian A.C., Boogaard,

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 572 KB

english, 2013

6

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O'Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Ra

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 964 KB

english, 2012

7

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 439 KB

english, 2014

8

Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation

Timothy Antonius, Bregje van Bon, Alex Eggink, Ineke van der Burgt, Kees Noordam, Arno van Heijst

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 75 KB

english, 2008

9

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review

Bregje W.M. van Bon, David A. Koolen, Rolph Pfundt, Ineke van der Burgt, Nicole de Leeuw, Bert B.A. de Vries

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 168 KB

english, 2008

10

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Frank Oeffner, Francisco Martinez, Julie Schaffer, Aïcha Salhi, Sandra Monfort, Silvestre Oltra, Ulrike Neidel, Dorothea Bornholdt, Bregje van Bon, Arne König, Rudolf Happle, Karl-Heinz Grzeschik

Journal:

Experimental Dermatology

Année:

2011

Langue:

english

Fichier:

PDF, 135 KB

english, 2011

11

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 628 KB

english, 2009

12

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010

13

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

van Bon, Bregje W M, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Moloney, Susan, Novara, Francesca

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 61 KB

english, 2010

14

Homozygosity mapping in outbred families with mental retardation

Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Jor

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 424 KB

english, 2011

15

The phenotype of recurrent 10q22q23 deletions and duplications

van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckma

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 568 KB

english, 2011

16

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Hoischen, Alexander, van Bon, Bregje W M, Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert

Journal:

Nature Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 467 KB

english, 2010

17

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Gaelle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie-Ange Delrue, Laetitia Duboscq-Bidot, Ann-Charlotte Thuresson, Bregje W.M. van Bon, Dorothée

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 290 KB

english, 2012

18

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena A. Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colb

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 905 KB

english, 2011

19

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

Geert Vandeweyer, Nathalie Van der Aa, Berten Ceulemans, Bregje W.M. van Bon, Liesbeth Rooms, R. Frank Kooy

Journal:

Epilepsy Research

Année:

2012

Langue:

english

Fichier:

PDF, 333 KB

english, 2012

20

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

de Ligt, Joep, Willemsen, Marjolein H., van Bon, Bregje W.M., Kleefstra, Tjitske, Yntema, Helger G., Kroes, Thessa, Vulto-van Silfhout, Anneke T., Koolen, David A., de Vries, Petra, Gilissen, Christia

Journal:

Boston Medical and Surgical Journal

Année:

2012

Langue:

english

Fichier:

PDF, 492 KB

english, 2012

21

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F,

Journal:

Nature Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 394 KB

english, 2011

22

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 538 KB

english, 2013

23

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Farmaditya E.P. Mundhofir, Dominique Smeets, Willy Nillesen, Tri Indah Winarni, Helger G. Yntema, Nicole de Leeuw, Ben C.J. Hamel, Sultana M.H. Faradz, Bregje W.M. van Bon

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 407 KB

english, 2012

24

Mutations in TPM2 and congenital fibre type disproportion

Clarke, Nigel F., Waddell, Leigh B., Sie, Lilian T.L., van Bon, Bregje W.M., McLean, Catriona, Clark, Damian, Kornberg, Andrew, Lammens, Martin, North, Kathryn N.

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 343 KB

english, 2012

25

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropou

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 681 KB

english, 2014

26

Clinical Significance of De Novo and Inherited Copy-Number Variation

Vulto-van Silfhout, Anneke T., Hehir-Kwa, Jayne Y., van Bon, Bregje W.M., Schuurs-Hoeijmakers, Janneke H.M., Meader, Stephen, Hellebrekers, Claudia J.M., Thoonen, Ilse J.M., de Brouwer, Arjan P.M., Br

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 986 KB

english, 2013

27

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

Buysse, Karen, de Ligt, Joep, Janssen, Irene M., van Bon, Bregje W. M., Gomes, Ingrid, Hehir-Kwa, Jayne, Eggink, Alex J., van Vugt, John M. G., Vissers, Lisenka E. L. M., Geurts van Kessel, Ad, Faas,

Journal:

Prenatal Diagnosis

Année:

2014

Langue:

english

Fichier:

PDF, 911 KB

english, 2014

28

Early presentation of cystic kidneys in a family with a homozygous INVS mutation

Oud, Machteld M., van Bon, Bregje W., Bongers, Ernie M. H. F., Hoischen, Alexander, Marcelis, Carlo L., de Leeuw, Nicole, Mol, Suzanne J. J., Mortier, Geert, Knoers, Nine V. A. M., Brunner, Han G., Ro

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 841 KB

english, 2014

29

A Cytogenetic Study in a Large Population of Intellectually Disabled Indonesians

Mundhofir, Farmaditya E.P., Winarni, Tri Indah, van Bon, Bregje W., Aminah, Siti, Nillesen, Willy M., Merkx, Gerard, Smeets, Dominique, Hamel, Ben C.J., Faradz, Sultana M.H., Yntema, Helger G.

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2012

Langue:

english

Fichier:

PDF, 175 KB

english, 2012

30

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2014

31

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 303 KB

english, 2014

32

A microduplication of the Rubinstein–Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation

Tüysüz, Beyhan, van Bon, Bregje W.M., Alp, Zeynep, Güzel, Zeki, Veltman, Joris A., de Vries, Bert B.A.

Journal:

Clinical Dysmorphology

Année:

2012

Langue:

english

Fichier:

PDF, 307 KB

english, 2012

33

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.

Journal:

Case Reports in Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 866 KB

english, 2012

34

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2015

35

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 69 KB

english, 2015

36

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Lugtenberg, Dorien, Reijnders, Margot R F, Fenckova, Michaela, Bijlsma, Emilia K, Bernier, Raphael, van Bon, Bregje W M, Smeets, Eric, Vulto-van Silfhout, Anneke T, Bosch, Danielle, Eichler, Evan E, M

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2016

37

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Kumar, Raman, Corbett, Mark A., Van Bon, Bregje W.M., Gardner, Alison, Woenig, Joshua A., Jolly, Lachlan A., Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, M

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 647 KB

english, 2015

38

Next generation genetische diagnostiek

van Bon, Bregje W.M., Coenen, Marieke J.H., Feenstra, Ilse

Journal:

Année:

2015

Langue:

dutch

Fichier:

PDF, 1.15 MB

dutch, 2015

39

Tall stature and minor facial dysmorphisms in a patient with a 17.5???Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

van Bon, Bregje W.M., Koolen, David A., Feenstra, Ilse, Neefs, Ineke, Pfundt, Rolph, Smeets, Dominique F., de Vries, Bert B.A.

Journal:

Clinical Dysmorphology

Année:

2007

Langue:

english

Fichier:

PDF, 178 KB

english, 2007

40

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

de Ligt, Joep, Willemsen, Marjolein H., van Bon, Bregje W. M., Kleefstra, Tjitske, Yntema, Helger G., Kroes, Thessa, Vulto-van Silfhout, Anneke T., Koolen, David A., de Vries, Petra, Gilissen, Christi

Journal:

Obstetric and Gynecologic Survey

Année:

2013

Langue:

english

Fichier:

PDF, 360 KB

english, 2013

41

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

Vulto-van Silfhout, Anneke T., Gilissen, Christian, Goeman, Jelle J., Jansen, Sandra, van Amen-Hellebrekers, Claudia J.M., van Bon, Bregje W.M., Koolen, David A., Sistermans, Erik A., Brunner, Han G.,

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1010 KB

english, 2017

42

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron

Journal:

European Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.31 MB

english, 2017

43

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P., Carvill, Gemma L., Van Esch, Hilde, Bosch, Daniëlle G. M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A., van Bon, Bregje

Journal:

European Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2017

44

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Tourai

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2017

45

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism

van Eyk, Clare L., Corbett, Mark A., Gardner, Alison, van Bon, Bregje W., Broadbent, Jessica L., Harper, Kelly, MacLennan, Alastair H., Gecz, Jozef

Journal:

Translational Psychiatry

Année:

2018

Langue:

english

Fichier:

PDF, 1.66 MB

english, 2018

46

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

Onori, Martina Proietti, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kus

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.22 MB

english, 2018

47

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W., Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 8.39 MB

english, 2018

48

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Mundhofir, Farmaditya EP, Tunjungputri, Rahajeng N, Nillesen, Willy M, Van Bon, Bregje WM, Ruiterkamp-Versteeg, Martina, Winarni, Tri I, Hamel, Ben CJ, Yntema, Helger G, Faradz, Sultana MH

Journal:

Paediatrica Indonesiana

Année:

2013

Langue:

english

Fichier:

PDF, 115 KB

english, 2013

49

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava

Journal:

The American Journal of Human Genetics

Année:

2019

Fichier:

PDF, 1.20 MB

2019

50

Cover Image, Volume 39, Issue 12

Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kus

Journal:

Année:

2018

Fichier:

PDF, 16.45 MB

2018