PubMed

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

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

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

A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome.

Maas NM, Vermeesch JR, Fryns JP.

Am J Med Genet A. 2005 Oct 15;138A(3):294-6. No abstract available. PMID: 16152650 [PubMed - indexed for MEDLINE]Related articles

A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings.

Van Buggenhout G, Maas NM, Fryns JP, Vermeesch JR.

Am J Med Genet A. 2004 Dec 1;131(2):186-9.PMID: 15523640 [PubMed - indexed for MEDLINE]Related articles

Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).

Dimitrov B, Devriendt K, Maas NM, Vermeesch JR, Zahariev D, Avdjieva D, Popova A, Fryns JP, Simeonov E.

Genet Couns. 2004;15(2):191-7. Review. Erratum in: Genet Couns. 2004;15(3):395. Popova, DAA [corrected to Avdjieva, D]; Popova, DAA [ corrected to Popova, A]. PMID: 15287419 [PubMed - indexed for MEDLINE]Related articles

Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease.

Lynch DR, Mozley PD, Sokol S, Maas NM, Balcer LJ, Siderowf AD.

Mov Disord. 2003 Jul;18(7):804-12.PMID: 12815660 [PubMed - indexed for MEDLINE]Related articles