PubMed

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S.

Clin Genet. 2009 Oct 23. [Epub ahead of print]PMID: 19863546 [PubMed - as supplied by publisher]Related articles

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

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

Zanni G, van Esch H, Bensalem A, Saillour Y, Poirier K, Castelnau L, Ropers HH, de Brouwer AP, Laumonnier F, Fryns JP, Chelly J.

Neurogenetics. 2009 Oct 1. [Epub ahead of print]PMID: 19795139 [PubMed - as supplied by publisher]Related articles

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E.

BMC Med Genet. 2009 Sep 22;10:97.PMID: 19772601 [PubMed - indexed for MEDLINE]Related articlesFree article

Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence.

Witters I, Fryns JP, De Catte L, Moerman P.

Prenat Diagn. 2009 Nov;29(11):1081-4. No abstract available. PMID: 19757402 [PubMed - in process]Related articles

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S.

Am J Hum Genet. 2009 Aug;85(2):204-13. Epub 2009 Aug 6.PMID: 19664745 [PubMed - indexed for MEDLINE]Related articles

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

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

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

Breckpot J, Thienpont B, Vanhole C, Van Rossem E, Van Schoubroeck D, Fryns JP, Lagae L, Buyse G, Devriendt K.

Clin Dysmorphol. 2009 Oct;18(4):195-200.PMID: 19617820 [PubMed - indexed for MEDLINE]Related articles

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

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

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

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

Angelman syndrome (AS, MIM 105830).

Van Buggenhout G, Fryns JP.

Eur J Hum Genet. 2009 Nov;17(11):1367-73. Epub 2009 May 20.PMID: 19455185 [PubMed - in process]Related articles

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.

de Ravel T, Balikova I, Van Driessche J, Vermeesch J, Fryns JP.

Am J Med Genet A. 2009 Jun;149A(6):1315-6. No abstract available. PMID: 19449408 [PubMed - indexed for MEDLINE]Related articles

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

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

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M.

Am J Med Genet A. 2009 May;149A(5):894-905.PMID: 19363806 [PubMed - indexed for MEDLINE]Related articles

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

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

Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21).

Witters I, Balikova I, Cannie M, Devriendt K, De Catte L, Fryns JP.

Genet Couns. 2008;19(4):443-6. No abstract available. PMID: 19239091 [PubMed - indexed for MEDLINE]Related articles

Dandy-Walker malformation in a male fetus with mosaic 45,X/46,X,del(Y)(q11).

Witters I, Vandecruys H, Devlieger R, Fryns JP.

Genet Couns. 2008;19(4):439-41. No abstract available. PMID: 19239090 [PubMed - indexed for MEDLINE]Related articles

Unilateral radio-ulnar synostosis and idic-Y chromosome.

De Smet L, Fryns JP.

Genet Couns. 2008;19(4):425-7.PMID: 19239087 [PubMed - indexed for MEDLINE]Related articles

A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.

Peeters H, Vermeesch J, Fryns JP.

Genet Couns. 2008;19(4):365-71.PMID: 19239079 [PubMed - indexed for MEDLINE]Related articles

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

Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M.

Mol Psychiatry. 2009 Feb 24. [Epub ahead of print]PMID: 19238151 [PubMed - as supplied by publisher]Related articles

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. Epub 2009 Feb 21.PMID: 19233321 [PubMed - indexed for MEDLINE]Related articles

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

Skeletal dysplasias: 38 prenatal cases.

Witters I, Moerman P, Fryns JP.

Genet Couns. 2008;19(3):267-75.PMID: 18990981 [PubMed - indexed for MEDLINE]Related articles

Follow-up of a child with trisomy 17 mosaicism.

Witters I, Fryns JP.

Prenat Diagn. 2008 Nov;28(11):1080. No abstract available. PMID: 18973159 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis of trisomy 21: registration results from a single genetic center.

Witters I, Fryns JP.

Genet Couns. 2008;19(2):157-63.PMID: 18618989 [PubMed - indexed for MEDLINE]Related articles

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.

Eur J Med Genet. 2008 Sep-Oct;51(5):383-408. Epub 2008 May 23. Review.PMID: 18599376 [PubMed - indexed for MEDLINE]Related articles

Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome.

Vermeiren A, Zarowski A, Fryns JP, Vanpoucke F, Somers T, Offeciers E.

Acta Otolaryngol. 2008 Jul;128(7):814-20.PMID: 18568526 [PubMed - indexed for MEDLINE]Related articles

Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome.

De Smedt B, Swillen A, Devriendt K, Fryns JP, Verschaffel L, Boets B, Ghesquière P.

Genet Couns. 2008;19(1):71-94.PMID: 18564504 [PubMed - indexed for MEDLINE]Related articles

The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.

Peeters K, Willekens D, Steyaert J, Fryns JP.

Genet Couns. 2008;19(1):1-14.PMID: 18564496 [PubMed - indexed for MEDLINE]Related articles

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

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP.

Eur J Med Genet. 2008 Jul-Aug;51(4):343-50. Epub 2008 Mar 27.PMID: 18440888 [PubMed - indexed for MEDLINE]Related articles

Trisomy 18 presenting with severe limb deformations.

Witters I, Fryns JP.

Prenat Diagn. 2008 Jun;28(6):549-50. No abstract available. PMID: 18437706 [PubMed - indexed for MEDLINE]Related articles

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW.

Eur J Hum Genet. 2008 Sep;16(9):1029-37. Epub 2008 Apr 9.PMID: 18398436 [PubMed - indexed for MEDLINE]Related articlesFree article

First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele.

Hindryckx A, De Catte L, Van Esch H, Fryns JP, Moerman P, Devlieger R.

Prenat Diagn. 2008 May;28(5):445-6. No abstract available. PMID: 18395870 [PubMed - indexed for MEDLINE]Related articles

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.

Genome Res. 2008 Jun;18(6):847-58. Epub 2008 Apr 2.PMID: 18385275 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J.

Am J Hum Genet. 2008 Feb;82(2):432-43. Epub 2008 Jan 24.PMID: 18252223 [PubMed - indexed for MEDLINE]Related articlesFree article

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

The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients.

Bailleul-Forestier I, Verhaeghe V, Fryns JP, Vinckier F, Declerck D, Vogels A.

Int J Paediatr Dent. 2008 Jan;18(1):40-7.PMID: 18086025 [PubMed - indexed for MEDLINE]Related articles

Human chromosome fragility.

Lukusa T, Fryns JP.

Biochim Biophys Acta. 2008 Jan;1779(1):3-16. Epub 2007 Dec 3. Review.PMID: 18078840 [PubMed - indexed for MEDLINE]Related articles

The cardiofaciocutaneous syndrome: prenatal findings in two patients.

Witters I, Denayer E, Brems H, Fryns JP, Legius E.

Prenat Diagn. 2008 Jan;28(1):53-5. No abstract available. PMID: 18022830 [PubMed - indexed for MEDLINE]Related articles

WITHDRAWN: Human chromosome fragility.

Lukusa T, Fryns JP.

Biochim Biophys Acta. 2007 Oct 12. [Epub ahead of print]PMID: 17976383 [PubMed - as supplied by publisher]Related articles

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

Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM.

J Med Genet. 2008 Feb;45(2):93-9. Epub 2007 Sep 24.PMID: 17893117 [PubMed - indexed for MEDLINE]Related articles

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