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1

PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum

Schoonjans, An-Sofie, Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Ceulemans, Berten

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 521 KB

english, 2016

2

Transgenic mouse model for the fragile X syndrome

Kooy, R. Frank, D'Hooge, Rudi, Reyniers, Edwin, Bakker, Cathy E., Nagels, Guy, De Boulle, Kristel, Storm, Katrien, Clincke, Gilbert, De Deyn, Peter P., Oostra, Ben A., Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 513 KB

english, 1996

3

Long-term potentiation in the hippocampus of fragile X knockout mice

Godfraind, Jean-Marie, Reyniers, Edwin, De Boulle, Kristel, D'Hooge, Rudi, De Deyn, Peter P., Bakker, Cathy E., Oostra, Ben A., Kooy, R. Frank, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 676 KB

english, 1996

4

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

Reyniers, Edwin, Wolff, Gerhard, Tariverdian, Gholamali, De Boulle, Kristel, Storm, Katrien, Kooy, R. Frank, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 533 KB

english, 1996

5

Postmortem examination of two fragile X brothers with anFMR1 full mutation

Reyniers, Edwin, Martin, Jean-Jacques, Cras, Patrick, Van Marck, Eric, Handig, Ingrid, Jorens, Hugo Z.J., Oostra, Ben A., Kooy, R. Frank, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 152 KB

english, 1999

6

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation

Kooy, R. Frank, Reyniers, Edwin, Storm, Katrien, Vits, Lieve, van Velzen, D�sir�e, de Ruiter, Petra E., Brinkmann, Albert O., de Paepe, Anne, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 540 KB

english, 1999

7

Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

Birgitta Winnepenninckx, Vanessa Errijgers, Edwin Reyniers, Peter P. De Deyn, Fatima E. Abidi, Charles E. Schwartz, R. Frank Kooy

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 90 KB

english, 2002

8

Fragile X syndrome phenotype with normal FMR1 gene studies

Nigel F. Clarke, David Mowat, R. Frank Kooy, Edwin Reyniers, Rob Willemsen

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

9

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene

Wim Wuyts, Edwin Reyniers, Chantal Ceuterick, Katrien Storm, Thierry de Barsy, Jean-Jacques Martin

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 147 KB

english, 2005

10

Somatic and gonadal mosaicism in Hutchinson–Gilford progeria

Wim Wuyts, Martine Biervliet, Edwin Reyniers, Maria Rosaria D'Apice, Giuseppe Novelli, Katrien Storm

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 120 KB

english, 2005

11

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype

Yolande van Bever, Liesbeth Rooms, Annick Laridon, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, Jan Wauters, R. Frank Kooy

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

12

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation—clinical report and review

Winnie Courtens, Wim Wuyts, Martin Poot, Karoly Szuhai, Jan Wauters, Edwin Reyniers, Marc Eleveld, George Diaz, Markus M. Nöthen, Ruti Parvari

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 155 KB

english, 2006

13

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

Liesbeth Rooms, Geert Vandeweyer, Edwin Reyniers, Kurt van Mol, Ilse de Canck, Nathalie Van der Aa, Rudi Rossau, R. Frank Kooy

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 113 KB

english, 2011

14

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, Edwin Reyniers, R. Frank Kooy

Journal:

Year:

2002

Language:

english

File:

PDF, 126 KB

english, 2002

15

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefaan Scheers, Jan Wauters, Berten Ceulemans, Jenneke Van Den Ende, Yolande Van Bever, R. Frank Kooy

Journal:

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

16

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

Liesbeth Rooms, Edwin Reyniers, R. Frank Kooy

Journal:

Year:

2005

Language:

english

File:

PDF, 299 KB

english, 2005

17

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation

Liesbeth Rooms, Edwin Reyniers, R. Frank Kooy

Journal:

Year:

2007

Language:

english

File:

PDF, 212 KB

english, 2007

18

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R Frank Kooy

Journal:

BMC Bioinformatics

Year:

2011

Language:

english

File:

PDF, 1.17 MB

english, 2011

19

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

Lieve Vits, Kristel Boulle, Edwin Reyniers, Ingrid Handig, John K. Darby, Ben Oostra, Patrick J. Willems

Journal:

Year:

1994

Language:

english

File:

PDF, 410 KB

english, 1994

20

Founder effect in a Belgian-Dutch fragile X population

Sonja Buyle, Edwin Reyniers, Lieve Vits, Kristel Boulle, Ingrid Handig, Floris L. E. Wuyts, Wout Deelen, Dicky J. J. Halley, Ben A. Oostra, Patrick J. Willems

Journal:

Year:

1993

Language:

english

File:

PDF, 381 KB

english, 1993

21

IncompleteEcoRI digestion may lead to false diagnosis of fragile X syndrome

Katrien Storm, Ingrid Handig, Edwin Reyniers, B. A. Oostra, R. Frank Kooy, P. J. Willems

Journal:

Year:

1998

Language:

english

File:

PDF, 36 KB

english, 1998

22

A point mutation in the FMR-1 gene associated with fragile X mental retardation

De Boulle, Kristel, Verkerk, Annemieke J.M.H., Reyniers, Edwin, Vits, Lieve, Hendrickx, Jan, Van Roy, Bernadette, Van Den Bos, Feikje, de Graaff, Esther, Oostra, Ben A., Willems, Patrick J.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 630 KB

1993

23

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

Reyniers, Edwin, Vits, Lieve, De Boulle, Kristel, Roy, Bernadette Van, Velzen, Desirée Van, de Graaff, Esther, Verkerk, Annemieke J.M.H., Jorens, Hugo Z.J., Darby, John K., Oostra, Ben

Journal:

Nature Genetics

Year:

1993

File:

PDF, 522 KB

1993

24

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Vits, Lieve, Van Camp, Guy, Coucke, Paul, Fransen, Erik, De Boulle, Kristel, Reyniers, Edwin, Korn, Bernhard, Poustka, Annemarie, Wilson, Golder, Schrander-Stumpel, Connie

Journal:

Nature Genetics

Year:

1994

File:

PDF, 627 KB

1994

25

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

26

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

Kooy, R Frank, Reyniers, Edwin, Verhoye, Marleen, Sijbers, Jan, Bakker, Cathy E, Oostra, Ben A, Willems, Patrick J, Van Der Linden, Annemie

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 278 KB

english, 1999

27

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions

Rooms, Liesbeth, Reyniers, Edwin, Scheers, Stefaan, van Luijk, Rob, Wauters, Jan, Van Aerschot, Leen, Callaerts-Vegh, Zsuzsanna, D'Hooge, Rudi, Mengus, Gabrielle, Davidson, Irwin

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

28

Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2

Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, Sandra Kenis, Lina Dom, Geert Mortier, Liesbeth Rooms, R. Frank Kooy

Journal:

Autism Research

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

29

An animal model for fragilex syndrome

Dr. Patrick J. Willems, Edwin Reyniers, Ben A. Oostra

Journal:

Development Diabilities Research Reviews

Year:

1995

Language:

english

File:

PDF, 611 KB

english, 1995

30

The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

Geert Vandeweyer, Nathalie Van der Aa, Edwin Reyniers, R. Frank Kooy

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 711 KB

english, 2012

31

Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation

Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, Stefan Scheers, Jan Wauters, R.Frank Kooy

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 141 KB

english, 2004

32

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy

Journal:

Neurobiology of Disease

Year:

2006

Language:

english

File:

PDF, 719 KB

english, 2006

33

Precise mapping of the fragile site FRA12A on chromosome 12q13.1

Birgitta Winnepenninckx, Edwin Reyniers, Paul Bossuyt, Arie Smits, Jan Wauters, R. Frank Kooy

Journal:

Year:

2001

Language:

english

File:

PDF, 393 KB

english, 2001

34

Gene Conversion between Red and Defective Green Opsin Gene in Blue Cone Monochromacy

EDWIN REYNIERS, MARIE-NOËLLE VANTHIENEN, FRANÇOISE MEIRE, KRISTEL DEBOULLE, KRISTINE DEVRIES, PHILIP KESTELIJN, PATRICK J. WILLEMS

Journal:

Year:

1995

Language:

english

File:

PDF, 142 KB

english, 1995

35

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review

Winnie Courtens, Wim Wuyts, Stefaan Scheers, Rob Van Luijk, Edwin Reyniers, Liesbeth Rooms, Berten Ceulemans, Frank Kooy, Jan Wauters

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 424 KB

english, 2006

36

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, Barbara Delle Chiaie, Geert Mortier, Björn Menten, Anne Destrée, Isabelle Ma

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

37

Muscle Pain as the Only Presenting Symptom in a Girl With Dystrophinopathy

Berten P. Ceulemans, Katrien Storm, Edwin Reyniers Jr, Luc Callewaert, Jean Jacques Martin

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

38

Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice

Debby Van Dam, Rudi D'Hooge, Ehud Hauben, Edwin Reyniers, Ilse Gantois, Cathy E Bakker, Ben A Oostra, R.Frank Kooy, Peter P De Deyn

Journal:

Behavioural Brain Research

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

39

Corrigendum to “Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice”: [Behav. Brain Res. 117 (2000) 127–136]

Debby Van Dam, Rudi D'Hooge, Ehud Hauben, Edwin Reyniers, Ilse Gantois, Cathy E Bakker, Ben A Oostra, R Frank Kooy, Peter P De Deyn

Journal:

Behavioural Brain Research

Year:

2001

Language:

english

File:

PDF, 40 KB

english, 2001

40

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

Edwin Reyniers, Patrick Van Bogaert, Nils Peeters, Lieve Vits, Fernand Pauly, Erik Fransen, Nicole Van Regemorter, R. Frank Kooy

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 138 KB

english, 1999

41

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

Elke Holinski-Feder, Edwin Reyniers, Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost, Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael R. S

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

42

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

Claus Lenski, R. Frank Kooy, Edwin Reyniers, Daniela Loessner, Ronald J.A. Wanders, Birgitta Winnepenninckx, Heide Hellebrand, Stefanie Engert, Charles E. Schwartz, Alfons Meindl, Juliane Ramser

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 4.22 MB

english, 2007

43

Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice

Reyniers, Edwin, Bockstaele, DirkR., Boulle, Kristel, Kooy, R.Frank, Bakker, CathyE., Oostra, BenA., Willems, PatrickJ.

Journal:

Year:

1996

Language:

english

File:

PDF, 162 KB

english, 1996

44

Familial hypertryptasemia with associated mast cell activation syndrome

Sabato, Vito, Van De Vijver, Els, Hagendorens, Margo, Vrelust, Inge, Reyniers, Edwin, Fransen, Erik, Bridts, Chris, De Clerck, Luc, Mortier, Geert, Valent, Peter, Ebo, Didier

Journal:

Journal of Allergy and Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 155 KB

english, 2014

45

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review

Courtens, Winnie, Wauters, Jan, Wojciechowski, Marek, Reyniers, Edwin, Scheers, Stefan, van Luijk, Rob, Rooms, Liesbeth, Kooy, Frank, Wuyts, Wim

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 169 KB

english, 2007

46

Segregation of the fragile X mutation from an affected male to his normal daughter

Willems, Patrick J., Roy, Bernadette Van, De Boulle, Kristel, Vits, Lieve, Reyniers, Edwin, Beck, Olivia, Dumon, Jan E., Verkerk, Annemieke, Oostra, Ben

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.07 MB

english, 1992

47

Alternative splicing in the fragile X gene FMR1

Verkerk, Annemieke J.M.H., de Graaff, Esther, De Boulle, Kristel, Eichler, Evan E., Konecki, David S., Reyniers, Edwin, Manca, Antonella, Poustka, Annemarie, Willems, Patrick J., Nelson, David L., Oos

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.88 MB

english, 1993

48

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S., Bengani, Hemant, Wilson, David I., Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Dougl

Journal:

Year:

2014

Language:

english

File:

PDF, 1.84 MB

english, 2014

49

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Van Dijck, Anke, Van Der Werf, Ilse M., Reyniers, Edwin, Scheers, Stefaan, Azage, Meron, Siefkas, Kiana, Van Der AA, Nathalie, Lacroix, Amy, Rosenfeld, Jill, Argiropoulos, Bob, Davis, Kellie, Innes, A

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 3.16 MB

english, 2015

50

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Le

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 488 KB

english, 2016

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