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    Results: 1 to 50 of 123

    1.

    An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.

    Allemeersch J, Van Vooren S, Hannes F, De Moor B, Vermeesch JR, Moreau Y.

    BMC Bioinformatics. 2009 Nov 19;10(1):380. [Epub ahead of print]PMID: 19925645 [PubMed - as supplied by publisher]Related articles

    2.

    A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

    Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW.

    Eur J Hum Genet. 2009 Oct 21. [Epub ahead of print]PMID: 19844260 [PubMed - as supplied by publisher]Related articles

    3.

    Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome.

    Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone J, Fong CT, Kussmann JL, Grange DK, Gorski J, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.

    J Med Genet. 2009 Oct 14. [Epub ahead of print]PMID: 19833603 [PubMed - as supplied by publisher]Related articles

    4.

    Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

    Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K.

    Eur J Med Genet. 2009 Nov-Dec;52(6):393-7. Epub 2009 Sep 17.PMID: 19772953 [PubMed - in process]Related articles

    5.

    Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

    Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM.

    Cytogenet Genome Res. 2009;125(2):109-14. Epub 2009 Aug 31.PMID: 19729913 [PubMed - indexed for MEDLINE]Related articles

    6.

    What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.

    Vanneste E, Voet T, Melotte C, Debrock S, Sermon K, Staessen C, Liebaers I, Fryns JP, D'Hooghe T, Vermeesch JR.

    Hum Reprod. 2009 Nov;24(11):2679-82. Epub 2009 Jul 24.PMID: 19633308 [PubMed - in process]Related articlesFree article

    7.

    Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls.

    Robberecht C, Schuddinck V, Fryns JP, Vermeesch JR.

    Genet Med. 2009 Sep;11(9):646-54.PMID: 19617844 [PubMed - indexed for MEDLINE]Related articles

    8.

    Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis.

    Witters I, Chabchoub E, Vermeesch JR, Fryns JP.

    Am J Med Genet A. 2009 Aug;149A(8):1834-6. No abstract available. PMID: 19610112 [PubMed - indexed for MEDLINE]Related articles

    9.

    Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

    Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P.

    J Med Genet. 2009 Jul 6. [Epub ahead of print]PMID: 19584065 [PubMed - as supplied by publisher]Related articles

    10.

    Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.

    Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR.

    Hum Mutat. 2009 Sep;30(9):E845-54.PMID: 19533689 [PubMed - indexed for MEDLINE]Related articles

    11.

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

    Grisart B, Willatt L, Destrée A, Fryns JP, Rack K, de Ravel T, Rosenfeld J, Vermeesch JR, Verellen-Dumoulin C, Sandford R.

    J Med Genet. 2009 Aug;46(8):524-30. Epub 2009 Jun 4.PMID: 19502243 [PubMed - indexed for MEDLINE]Related articles

    12.

    Chromosome instability is common in human cleavage-stage embryos.

    Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F, Fryns JP, Verbeke G, D'Hooghe T, Moreau Y, Vermeesch JR.

    Nat Med. 2009 May;15(5):577-83. Epub 2009 Apr 26.PMID: 19396175 [PubMed - indexed for MEDLINE]Related articles

    13.

    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

    van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

    J Med Genet. 2009 Aug;46(8):511-23. Epub 2009 Apr 15.PMID: 19372089 [PubMed - indexed for MEDLINE]Related articles

    14.

    Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

    de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns JP.

    Eur J Med Genet. 2009 Mar-Jun;52(2-3):120-2. Epub 2009 Jan 22.PMID: 19284984 [PubMed - indexed for MEDLINE]Related articles

    15.

    Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.

    Vanneste E, Melotte C, Debrock S, D'Hooghe T, Brems H, Fryns JP, Legius E, Vermeesch JR.

    Hum Reprod. 2009 Jun;24(6):1522-8. Epub 2009 Mar 10.PMID: 19278970 [PubMed - indexed for MEDLINE]Related articles

    16.

    Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

    Balikova I, Vermeesch JR, Fryns JP, Van Esch H.

    Eur J Med Genet. 2009 Jul-Aug;52(4):260-1. Epub 2009 Jan 14.PMID: 19272308 [PubMed - indexed for MEDLINE]Related articles

    17.

    Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial.

    Debrock S, Melotte C, Spiessens C, Peeraer K, Vanneste E, Meeuwis L, Meuleman C, Frijns JP, Vermeesch JR, D'Hooghe TM.

    Fertil Steril. 2009 Feb 25. [Epub ahead of print]PMID: 19249029 [PubMed - as supplied by publisher]Related articles

    18.

    Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

    de Ravel TJ, Ameye L, Ballon K, Borghgraef M, Vermeesch JR, Devriendt K.

    Eur J Med Genet. 2009 Mar-Jun;52(2-3):145-7. Epub 2009 Feb 21.PMID: 19233320 [PubMed - indexed for MEDLINE]Related articles

    19.

    Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.

    Stoeva RE, Grozdanova LI, Vermeesch JR, Kirchhoff M, Fryns JP, Ivanov IS, Patcheva IH, Dimitrov BI, Krastev TB, Linev AJ, Stefanova MT.

    Folia Med (Plovdiv). 2008 Oct-Dec;50(4):55-62.PMID: 19209531 [PubMed - indexed for MEDLINE]Related articles

    20.

    Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

    South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M.

    Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):270-4.PMID: 18932125 [PubMed - indexed for MEDLINE]Related articles

    21.

    Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.

    Backx L, Ceulemans B, Vermeesch JR, Devriendt K, Van Esch H.

    Eur J Hum Genet. 2009 Mar;17(3):378-82. Epub 2008 Oct 15.PMID: 18854870 [PubMed - indexed for MEDLINE]Related articles

    22.

    Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

    Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M.

    Eur J Hum Genet. 2009 Jan;17(1):129-32. Epub 2008 Oct 1.PMID: 18830230 [PubMed - indexed for MEDLINE]Related articles

    23.

    Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

    Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

    N Engl J Med. 2008 Oct 16;359(16):1685-99. Epub 2008 Sep 10.PMID: 18784092 [PubMed - indexed for MEDLINE]Related articlesFree article

    24.

    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.

    Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

    J Med Genet. 2009 Apr;46(4):223-32. Epub 2008 Jun 11.PMID: 18550696 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Direct fluorescent labelling of clones by DOP PCR.

    Backx L, Thoelen R, Van Esch H, Vermeesch JR.

    Mol Cytogenet. 2008 Mar 26;1(1):3.PMID: 18471308 [PubMed - in process]Related articlesFree article

    26.

    Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.

    Castermans D, Thienpont B, Volders K, Crepel A, Vermeesch JR, Schrander-Stumpel CT, Van de Ven WJ, Steyaert JG, Creemers JW, Devriendt K.

    Eur J Hum Genet. 2008 Oct;16(10):1187-92. Epub 2008 Apr 16.PMID: 18414512 [PubMed - indexed for MEDLINE]Related articlesFree article

    27.

    A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

    Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K.

    Eur J Hum Genet. 2008 Sep;16(9):1050-4. Epub 2008 Apr 9.PMID: 18398442 [PubMed - indexed for MEDLINE]Related articlesFree article

    28.

    The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

    Chabchoub E, Vermeesch JR, de Ravel T, de Cock P, Fryns JP.

    J Med Genet. 2008 Mar;45(3):189-92. No abstract available. PMID: 18310269 [PubMed - indexed for MEDLINE]Related articles

    29.

    TGF-beta1-induced cardiac myofibroblasts are nonproliferating functional cells carrying DNA damages.

    Petrov VV, van Pelt JF, Vermeesch JR, Van Duppen VJ, Vekemans K, Fagard RH, Lijnen PJ.

    Exp Cell Res. 2008 Apr 15;314(7):1480-94. Epub 2008 Jan 26.PMID: 18295203 [PubMed - indexed for MEDLINE]Related articles

    30.

    The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.

    Maas NM, Van Vooren S, Hannes F, Van Buggenhout G, Mysliwiec M, Moreau Y, Fagan K, Midro A, Engiz O, Balci S, Parker MJ, Sznajer Y, Devriendt K, Fryns JP, Vermeesch JR.

    Genet Couns. 2007;18(4):357-65.PMID: 18286816 [PubMed - indexed for MEDLINE]Related articles

    31.

    A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.

    Thienpont B, Breckpot J, Vermeesch JR, Gewillig M, Devriendt K.

    Eur J Med Genet. 2008 May-Jun;51(3):219-25. Epub 2008 Jan 9.PMID: 18282819 [PubMed - indexed for MEDLINE]Related articles

    32.

    Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

    Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR.

    Am J Hum Genet. 2008 Jan;82(1):181-7.PMID: 18179897 [PubMed - indexed for MEDLINE]Related articlesFree article

    33.

    Benign and pathogenic copy number variation on the short arm of chromosome 4.

    Hannes F, Vermeesch JR.

    Cytogenet Genome Res. 2008;123(1-4):88-93. Epub 2009 Mar 11. Review.PMID: 19287142 [PubMed - indexed for MEDLINE]Related articles

    34.

    Complete sex reversal in a WAGR syndrome patient.

    Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM.

    Am J Med Genet A. 2007 Nov 15;143A(22):2692-5.PMID: 17935232 [PubMed - indexed for MEDLINE]Related articles

    35.

    Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes.

    Van Vooren S, Coessens B, De Moor B, Moreau Y, Vermeesch JR.

    Genet Med. 2007 Sep;9(9):642-9. Review.PMID: 17873653 [PubMed - indexed for MEDLINE]Related articles

    36.

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

    Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.

    J Med Genet. 2008 Feb;45(2):71-80. Epub 2007 Sep 14.PMID: 17873117 [PubMed - indexed for MEDLINE]Related articles

    37.

    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

    De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.

    J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.PMID: 17766364 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    A microduplication of CBP in a patient with mental retardation and a congenital heart defect.

    Thienpont B, Breckpot J, Holvoet M, Vermeesch JR, Devriendt K.

    Am J Med Genet A. 2007 Sep 15;143A(18):2160-4.PMID: 17702016 [PubMed - indexed for MEDLINE]Related articles

    39.

    Guidelines for molecular karyotyping in constitutional genetic diagnosis.

    Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O.

    Eur J Hum Genet. 2007 Nov;15(11):1105-14. Epub 2007 Jul 18. Review.PMID: 17637806 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

    Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR.

    Am J Med Genet A. 2007 Aug 15;143A(16):1912-8.PMID: 17632770 [PubMed - indexed for MEDLINE]Related articles

    41.

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

    Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR.

    J Med Genet. 2007 Sep;44(9):562-9. Epub 2007 Jun 23.PMID: 17586838 [PubMed - indexed for MEDLINE]Related articlesFree article

    42.

    Partial duplications of the ATRX gene cause the ATR-X syndrome.

    Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.

    Eur J Hum Genet. 2007 Oct;15(10):1094-7. Epub 2007 Jun 20.PMID: 17579672 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

    Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P.

    Hum Mutat. 2007 Oct;28(10):1034-42.PMID: 17546640 [PubMed - indexed for MEDLINE]Related articles

    44.

    Subtelomeric imbalances in phenotypically normal individuals.

    Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR.

    Hum Mutat. 2007 Oct;28(10):958-67.PMID: 17492636 [PubMed - indexed for MEDLINE]Related articles

    45.

    Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

    Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K.

    Eur Heart J. 2007 Nov;28(22):2778-84. Epub 2007 Mar 23.PMID: 17384091 [PubMed - indexed for MEDLINE]Related articlesFree article

    46.

    Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q.

    Maas N, Thienpont B, Vermeesch JR, Fryns JP.

    Genet Couns. 2006;17(4):477-9. No abstract available. Erratum in: Genet Couns. 2007;18(2):263. Thienpont, B [added]. PMID: 17375538 [PubMed - indexed for MEDLINE]Related articles

    47.

    What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

    de Ravel TJ, Devriendt K, Fryns JP, Vermeesch JR.

    Eur J Pediatr. 2007 Jul;166(7):637-43. Epub 2007 Mar 20. Review.PMID: 17372759 [PubMed - indexed for MEDLINE]Related articles

    48.

    Left-ventricular non-compaction in a patient with monosomy 1p36.

    Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K.

    Eur J Med Genet. 2007 May-Jun;50(3):233-6. Epub 2007 Jan 27.PMID: 17337261 [PubMed - indexed for MEDLINE]Related articles

    49.

    Array painting using microdissected chromosomes to map chromosomal breakpoints.

    Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR.

    Cytogenet Genome Res. 2007;116(3):158-66.PMID: 17317954 [PubMed - indexed for MEDLINE]Related articles

    50.

    Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

    Castermans D, Vermeesch JR, Fryns JP, Steyaert JG, Van de Ven WJ, Creemers JW, Devriendt K.

    Eur J Hum Genet. 2007 Apr;15(4):422-31. Epub 2007 Feb 7.PMID: 17290275 [PubMed - indexed for MEDLINE]Related articlesFree article

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