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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Author / Creator:Hannes, F D ; Sharp, A J ; Mefford, H C ; de Ravel, T ; Ruivenkamp, C A ; Breuning, M H ; Fryns, J-P ; Devriendt, K ; Van Buggenhout, G ; Vogels, A ; Stewart, H ; Hennekam, R C ; Cooper, G M ; Regan, R ; Knight, S J L ; Eichler, E E ; Vermeesch, J R
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
Author / Creator:Menten, B ; Maas, N ; Thienpont, B ; Buysse, K ; Vandesompele, J ; Melotte, C ; de Ravel, T ; Van Vooren, S ; Balikova, I ; Backx, L ; Janssens, S ; De Paepe, A ; De Moor, B ; Moreau, Y ; Marynen, P ; Fryns, J-P ; Mortier, G ; Devriendt, K ; Speleman, F ; Vermeesch, J R
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633
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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
Author / Creator:Vylet'al, P. ; Kublová, M. ; Kalbáčová, M. ; Hodaňová, K. ; Barešová, V. ; Stibůrková, B. ; Sikora, J. ; Hůlková, H. ; živný, J. ; Majewski, J. ; Simmonds, A. ; Fryns, J.-P. ; Venkat-Raman, G. ; Elleder, M. ; Kmoch, S.
Publisher:New York, NY: Elsevier Inc
Journal title:Kidney international, 2006-09, Vol.70 (6), p.1155-1169
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Author / Creator:Laumonnier, F ; Holbert, S ; Ronce, N ; Faravelli, F ; Lenzner, S ; Schwartz, C E ; Lespinasse, J ; Van Esch, H ; Lacombe, D ; Goizet, C ; Phan-Dinh Tuy, F ; van Bokhoven, H ; Fryns, J-P ; Chelly, J ; Ropers, H-H ; Moraine, C ; Hamel, B C J ; Briault, S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2005-10, Vol.42 (10), p.780-786
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Author / Creator:Laumonnier, F ; Shoubridge, C ; Antar, C ; Nguyen, L S ; Van Esch, H ; Kleefstra, T ; Briault, S ; Fryns, J P ; Hamel, B ; Chelly, J ; Ropers, H H ; Ronce, N ; Blesson, S ; Moraine, C ; Gécz, J ; Raynaud, M
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2010-07, Vol.15 (7), p.767-776
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GATA3 haplo-insufficiency causes human HDR syndrome
Author / Creator:Van Esch, Hilde ; Groenen, Peter ; Nesbit, M. Andrew ; Schuffenhauer, Simone ; Lichtner, Peter ; Vanderlinden, Gert ; Harding, Brian ; Beetz, Rolf ; Bilous, Rudolf W. ; Holdaway, Ian ; Shaw, Nicholas J. ; Fryns, Jean-Pierre ; Van de Ven, Wim ; Thakker, Rajesh V. ; Devriendt, Koenraad
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2000-07, Vol.406 (6794), p.419-422
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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
Author / Creator:Maas, N M C ; Van Buggenhout, G ; Hannes, F ; Thienpont, B ; Sanlaville, D ; Kok, K ; Midro, A ; Andrieux, J ; Anderlid, B-M ; Schoumans, J ; Hordijk, R ; Devriendt, K ; Fryns, J-P ; Vermeesch, J R
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80
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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
Author / Creator:Grisart, B ; Willatt, L ; Destrée, A ; Fryns, J-P ; Rack, K ; de Ravel, T ; Rosenfeld, J ; Vermeesch, J R ; Verellen-Dumoulin, C ; Sandford, R
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2009-08, Vol.46 (8), p.524-530
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Author / Creator:Hagleitner, M M ; Lankester, A ; Maraschio, P ; Hultén, M ; Fryns, J P ; Schuetz, C ; Gimelli, G ; Davies, E G ; Gennery, A ; Belohradsky, B H ; de Groot, R ; Gerritsen, E J A ; Mattina, T ; Howard, P J ; Fasth, A ; Reisli, I ; Furthner, D ; Slatter, M A ; Cant, A J ; Cazzola, G ; van Dijken, P J ; van Deuren, M ; de Greef, J C ; van der Maarel, S M ; Weemaes, C M R
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2008-02, Vol.45 (2), p.93-99
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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
Author / Creator:Billuart, Pierre ; Bienvenu, Thierry ; Ronce, Nathalie ; des Portes, Vincent ; Vinet, Marie Claude ; Zemni, Ramzi ; Crollius, Hugues Roest ; Carrié, Alain ; Fauchereau, Fabien ; Cherry, Michele ; Briault, Sylvain ; Hamel, Ben ; Fryns, Jean-Pierre ; Beldjord, Cherif ; Kahn, Axel ; Moraine, Claude ; Chelly, Jamel
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 1998-04, Vol.392 (6679), p.923-926
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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
Author / Creator:Van Buggenhout, G ; Melotte, C ; Dutta, B ; Froyen, G ; Van Hummelen, P ; Marynen, P ; Matthijs, G ; de Ravel, T ; Devriendt, K ; Fryns, J P ; Vermeesch, J R
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698
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Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS
Author / Creator:Swillen, A ; Devriendt, K ; Legius, E ; Eyskens, B ; Dumoulin, M ; Gewillig, M ; Fryns, J P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1997-06, Vol.34 (6), p.453-458
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Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling
Author / Creator:Schrander-Stumpel, C. ; Fryns, J. -P.
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 1998-05, Vol.157 (5), p.355-362
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
Author / Creator:Dimitrov, B I ; de Ravel, T ; Van Driessche, J ; de Die-Smulders, C ; Toutain, A ; Vermeesch, J R ; Fryns, J P ; Devriendt, K ; Debeer, P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111
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Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29
Author / Creator:Chabchoub, E. ; Cogulu, O. ; Durmaz, B. ; Vermeesch, J.R. ; Ozkinay, F. ; Fryns, J.-P.
Publisher:Basel, Switzerland: Karger
Journal title:Dermatology (Basel), 2011-01, Vol.223 (4), p.306-310
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PTPN11 mutations in LEOPARD syndrome
Author / Creator:Legius, E ; Schrander-Stumpel, C ; Schollen, E ; Pulles-Heintzberger, C ; Gewillig, M ; Fryns, J-P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2002-08, Vol.39 (8), p.571-574
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
Author / Creator:Lugtenberg, D ; de Brouwer, A P M ; Kleefstra, T ; Oudakker, A R ; Frints, S G M ; Schrander-Stumpel, C T R M ; Fryns, J P ; Jensen, L R ; Chelly, J ; Moraine, C ; Turner, G ; Veltman, J A ; Hamel, B C J ; de Vries, B B A ; van Bokhoven, H ; Yntema, H G
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2006-04, Vol.43 (4), p.362-370
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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
Author / Creator:Kleefstra, T ; Smidt, M ; Banning, M J G ; Oudakker, A R ; Van Esch, H ; de Brouwer, A P M ; Nillesen, W ; Sistermans, E A ; Hamel, B C J ; de Bruijn, D ; Fryns, J-P ; Yntema, H G ; Brunner, H G ; de Vries, B B A ; van Bokhoven, H
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2005-04, Vol.42 (4), p.299-306
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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse
Author / Creator:Peeters, H. ; Debeer, P. ; Bairoch, A. ; Wilquet, V. ; Huysmans, C. ; Parthoens, E. ; Fryns, J. P. ; Gewillig, M. ; Nakamura, Y. ; Niikawa, N. ; Van de Ven, W. ; Devriendt, K.
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2003-05, Vol.112 (5-6), p.573-580
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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
Author / Creator:Devriendt, Koenraad ; Kim, Annette S. ; Mathijs, Gert ; Frints, Suzanna G.M. ; Schwartz, Marianne ; Van den Oord, Joost J. ; Verhoef, Gregor E.G. ; Boogaerts, Marc A. ; Fryns, Jean-Pierre ; You, Daoqi ; Rosen, Michael K. ; Vandenberghe, Peter
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2001-03, Vol.27 (3), p.313-317
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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

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GATA3 haplo-insufficiency causes human HDR syndrome

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

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Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

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Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

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Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29

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PTPN11 mutations in LEOPARD syndrome

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

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