Bonduelle M - Search Results

1

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ, Verloes A, Meurisse M, Van Gaal L, Verellen C, Koulischer L, Beckers A. Poncin J, et al. Among authors: bonduelle m. Hum Mutat. 1999;13(1):54-60. doi: 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K. Hum Mutat. 1999. PMID: 9888389

2

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.

Ullmann U, Unuane D, Velkeniers B, Lissens W, Wuyts W, Bonduelle M. Ullmann U, et al. Among authors: bonduelle m. Eur J Hum Genet. 2013 Jun;21(6):695-7. doi: 10.1038/ejhg.2012.241. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188049 Free PMC article.

3

The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population.

Bonduelle M, Lissens W, Malfroot A, Dab I, Liebaers I. Bonduelle M, et al. Hum Genet. 1990 Sep;85(4):395-6. doi: 10.1007/BF02428271. Hum Genet. 1990. PMID: 2210742

4

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

Mercier B, Lissens W, Audrézet MP, Bonduelle M, Liebaers I, Ferec C. Mercier B, et al. Among authors: bonduelle m. Hum Mutat. 1993;2(1):16-20. doi: 10.1002/humu.1380020104. Hum Mutat. 1993. PMID: 8477260

5

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Dhooge T, Van Damme T, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper PO, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Al Kindy A, Tinkle B, Symoens S, Malfait F. Dhooge T, et al. Among authors: bonduelle m. Hum Mutat. 2021 Jun;42(6):711-730. doi: 10.1002/humu.24199. Epub 2021 Apr 6. Hum Mutat. 2021. PMID: 33739556 Review.

6

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Sassi A, Désir J, Duerinckx S, Soblet J, Van Dooren S, Bonduelle M, Abramowicz M, Delbaere A. Sassi A, et al. Among authors: bonduelle m. Mol Genet Genomic Med. 2021 Oct;9(10):e1776. doi: 10.1002/mgg3.1776. Epub 2021 Sep 4. Mol Genet Genomic Med. 2021. PMID: 34480423 Free PMC article.

7

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).

Claes K, Dahan K, Tejpar S, De Paepe A, Bonduelle M, Abramowicz M, Verellen C, Franchimont D, Van Cutsem E, Kartheuser A. Claes K, et al. Among authors: bonduelle m. Acta Gastroenterol Belg. 2011 Sep;74(3):421-6. Acta Gastroenterol Belg. 2011. PMID: 22103048 Free article. Review.

8

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E. Taillandier A, et al. Among authors: bonduelle m. Hum Mutat. 2001;18(1):83-4. doi: 10.1002/humu.1154. Hum Mutat. 2001. PMID: 11438998

9

Identification of two novel mutations in the cystic fibrosis gene: 1898+3A-->C and 2711delT.

Mercier B, Lissens W, Audrézet MP, Bonduelle M, Quéré I, Hilbert P, Liebaers I, Férec C. Mercier B, et al. Among authors: bonduelle m. Hum Mutat. 1995;6(2):188-9. doi: 10.1002/humu.1380060215. Hum Mutat. 1995. PMID: 7581406 No abstract available.

10

DIDA: A curated and annotated digenic diseases database.

Gazzo AM, Daneels D, Cilia E, Bonduelle M, Abramowicz M, Van Dooren S, Smits G, Lenaerts T. Gazzo AM, et al. Among authors: bonduelle m. Nucleic Acids Res. 2016 Jan 4;44(D1):D900-7. doi: 10.1093/nar/gkv1068. Epub 2015 Oct 19. Nucleic Acids Res. 2016. PMID: 26481352 Free PMC article.

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