Van Buggenhout G - Search Results

1

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Lannoo L, van Straaten K, Breckpot J, Brison N, De Catte L, Dimitriadou E, Legius E, Peeters H, Parijs I, Tsuiko O, Vancoillie L, Vermeesch JR, Van Buggenhout G, Van Den Bogaert K, Van Calsteren K, Devriendt K. Lannoo L, et al. Among authors: van buggenhout g. Eur J Hum Genet. 2022 Dec;30(12):1323-1330. doi: 10.1038/s41431-022-01147-1. Epub 2022 Jul 27. Eur J Hum Genet. 2022. PMID: 35896702 Free PMC article. Review.

2

Chromosome healing of constitutional chromosome deletions studied by microdissection.

Vermeesch JR, Falzetti D, Van Buggenhout G, Fryns JP, Marynen P. Vermeesch JR, et al. Among authors: van buggenhout g. Cytogenet Cell Genet. 1998;81(1):68-72. doi: 10.1159/000014991. Cytogenet Cell Genet. 1998. PMID: 9691179

3

Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.

Lukusa T, Van Buggenhout G, Devriendt K, Meireleire J, Van Goethem G, Roelen L, Fryns JP. Lukusa T, et al. Among authors: van goethem g, van buggenhout g. Ann Genet. 1998;41(4):199-204. Ann Genet. 1998. PMID: 9881182 Review.

4

Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).

Devriendt K, Matthijs G, Meireleire J, Roelen L, van Buggenhout G, Fryns JP. Devriendt K, et al. Among authors: van buggenhout g. Genet Couns. 1998;9(4):283-6. Genet Couns. 1998. PMID: 9894166

5

Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.

Van Buggenhout GJ, Trommelen JC, Schoenmaker A, De Bal C, Verbeek JJ, Smeets DF, Ropers HH, Devriendt K, Hamel BC, Fryns JP. Van Buggenhout GJ, et al. Am J Med Genet. 1999 Aug 6;85(4):376-84. doi: 10.1002/(sici)1096-8628(19990806)85:4<376::aid-ajmg14>3.3.co;2-h. Am J Med Genet. 1999. PMID: 10398264

6

Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.

Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP. Lukusa T, et al. Among authors: van buggenhout g. Genet Couns. 2002;13(1):1-10. Genet Couns. 2002. PMID: 12017231 Review.

7

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. Van Buggenhout G, et al. Am J Med Genet A. 2004 Dec 1;131(2):186-9. doi: 10.1002/ajmg.a.20679. Am J Med Genet A. 2004. PMID: 15523640

8

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. Van Buggenhout G, et al. Among authors: van ravenswaaij arts c. Eur J Med Genet. 2005 Jul-Sep;48(3):276-89. doi: 10.1016/j.ejmg.2005.05.005. Eur J Med Genet. 2005. PMID: 16179223

9

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. Maas NM, et al. Among authors: van buggenhout g. J Med Genet. 2008 Feb;45(2):71-80. doi: 10.1136/jmg.2007.052910. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873117

10

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. Maas NM, et al. Among authors: van vooren s, van buggenhout g. Genet Couns. 2007;18(4):357-65. Genet Couns. 2007. PMID: 18286816

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