Cuppens H - Search Results

1

CFTR haplotype backgrounds on normal and mutant CFTR genes.

Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ. Cuppens H, et al. Hum Mol Genet. 1994 Apr;3(4):607-14. doi: 10.1093/hmg/3.4.607. Hum Mol Genet. 1994. PMID: 7520797

2

Cystic fibrosis.

Cuppens H, Dequeker E, Cassiman JJ. Cuppens H, et al. Methods Mol Med. 2004;92:221-44. doi: 10.1385/1-59259-432-8:221. Methods Mol Med. 2004. PMID: 14733315 No abstract available.

3

CFTR mutations and polymorphisms in male infertility.

Cuppens H, Cassiman JJ. Cuppens H, et al. Int J Androl. 2004 Oct;27(5):251-6. doi: 10.1111/j.1365-2605.2004.00485.x. Int J Androl. 2004. PMID: 15379964 Review.

4

An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms.

Loumi O, Cuppens H, Bakour R, Benabadji M, Baghriche M, Marynen P, Cassiman JJ. Loumi O, et al. Among authors: cuppens h. Genet Couns. 1992;3(4):205-7. Genet Couns. 1992. PMID: 1282016

5

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.

Cuppens H, Loumi O, Marynen P, Cassiman JJ. Cuppens H, et al. Hum Mol Genet. 1992 Jul;1(4):283-4. doi: 10.1093/hmg/1.4.283. Hum Mol Genet. 1992. PMID: 1284627 No abstract available.

6

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot.

Cuppens H, Buyse I, Baens M, Marynen P, Cassiman JJ. Cuppens H, et al. Mol Cell Probes. 1992 Feb;6(1):33-9. doi: 10.1016/0890-8508(92)90069-a. Mol Cell Probes. 1992. PMID: 1372093

7

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Cuppens H, Marynen P, De Boeck C, De Baets F, Eggermont E, Van den Berghe H, Cassiman JJ. Cuppens H, et al. J Med Genet. 1990 Nov;27(11):717-9. doi: 10.1136/jmg.27.11.717. J Med Genet. 1990. PMID: 2135388 Free PMC article.

8

Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families.

Cuppens H, Legius E, Cabello P, Marynen P, De Boeck C, Decorte R, Fryns JP, Eggermont E, Van den Berghe H, Cassiman JJ. Cuppens H, et al. Hum Genet. 1990 Sep;85(4):402-3. doi: 10.1007/BF02428277. Hum Genet. 1990. PMID: 2210747

9

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.

Cuppens H, Marynen P, De Boeck C, Cassiman JJ. Cuppens H, et al. Genomics. 1993 Dec;18(3):693-7. doi: 10.1016/s0888-7543(05)80376-3. Genomics. 1993. PMID: 7508414

10

Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population.

Teng H, Cuppens H, De Boeck C, Cassiman JJ. Teng H, et al. Among authors: cuppens h. Hum Mol Genet. 1994 Dec;3(12):2249-50. doi: 10.1093/hmg/3.12.2249. Hum Mol Genet. 1994. PMID: 7881429 No abstract available.

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