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Year Number of Results
1994 1
1995 4
1996 2
1997 1
1998 8
1999 4
2000 2
2001 3
2002 1
2003 2
2004 3
2005 1
2006 2
2007 2
2008 4
2009 2
2010 1
2011 1
2012 2
2014 2
2015 1
2016 3
2017 3
2018 1
2019 3
2020 5
2021 2
2022 4
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2024 1

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65 results

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Page 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.
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppänen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner DL, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL. Spaan AN, et al. Among authors: van buggenhout g. Science. 2022 Jun 17;376(6599):eabm6380. doi: 10.1126/science.abm6380. Epub 2022 Jun 17. Science. 2022. PMID: 35587511 Free PMC article.
Mesiodens.
Van Buggenhout G, Bailleul-Forestier I. Van Buggenhout G, et al. Eur J Med Genet. 2008 Mar-Apr;51(2):178-81. doi: 10.1016/j.ejmg.2007.12.006. Epub 2008 Jan 4. Eur J Med Genet. 2008. PMID: 18262485 Review.
Angelman syndrome (AS, MIM 105830).
Van Buggenhout G, Fryns JP. Van Buggenhout G, et al. Eur J Hum Genet. 2009 Nov;17(11):1367-73. doi: 10.1038/ejhg.2009.67. Epub 2009 May 20. Eur J Hum Genet. 2009. PMID: 19455185 Free PMC article. Review.
The clinical relevance of intragenic NRXN1 deletions.
Cosemans N, Vandenhove L, Vogels A, Devriendt K, Van Esch H, Van Buggenhout G, Olivié H, de Ravel T, Ortibus E, Legius E, Aerssens P, Breckpot J, R Vermeesch J, Shen S, Fitzgerald J, Gallagher L, Peeters H. Cosemans N, et al. Among authors: van buggenhout g. J Med Genet. 2020 May;57(5):347-355. doi: 10.1136/jmedgenet-2019-106448. Epub 2020 Jan 13. J Med Genet. 2020. PMID: 31932357
Down-Turner syndrome: case report and review.
Van Buggenhout GJ, Hamel BC, Trommelen JC, Mieloo H, Smeets DF. Van Buggenhout GJ, et al. J Med Genet. 1994 Oct;31(10):807-10. doi: 10.1136/jmg.31.10.807. J Med Genet. 1994. PMID: 7837259 Free PMC article. Review.
Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
Dullens B, de Putter R, Lambertini M, Toss A, Han S, Van Nieuwenhuysen E, Van Gorp T, Vanderstichele A, Van Ongeval C, Keupers M, Prevos R, Celis V, Dekervel J, Everaerts W, Wildiers H, Nevelsteen I, Neven P, Timmerman D, Smeets A, Denayer E, Van Buggenhout G, Legius E, Punie K. Dullens B, et al. Among authors: van buggenhout g. J Oncol. 2020 Jun 20;2020:9873954. doi: 10.1155/2020/9873954. eCollection 2020. J Oncol. 2020. PMID: 32655641 Free PMC article. Review.
65 results