Demaille J - Search Results

1

Deciphering the molecular genetics of congenital heart disease.

Bouvagnet P, Sauer U, Debrus S, Genz T, Alonso S, Berger G, De Meeus A, Bühlmeier K, Demaille J. Bouvagnet P, et al. Among authors: demaille j. Herz. 1994 Apr;19(2):119-25. Herz. 1994. PMID: 8194832 Review.

2

[Mice SI/Col: a study model in the research of genes involved in situs inversus].

de Meeus A, Alonso S, Demaille J, Bouvagnet P. de Meeus A, et al. Among authors: demaille j. Arch Mal Coeur Vaiss. 1993 May;86(5):617-22. Arch Mal Coeur Vaiss. 1993. PMID: 8257272 French.

3

An isolated cardiac conduction disease maps to chromosome 19q.

de Meeus A, Stephan E, Debrus S, Jean MK, Loiselet J, Weissenbach J, Demaille J, Bouvagnet P. de Meeus A, et al. Among authors: demaille j. Circ Res. 1995 Oct;77(4):735-40. doi: 10.1161/01.res.77.4.735. Circ Res. 1995. PMID: 7554120

4

A detailed linkage map of subtelomeric murine chromosome 12 region including the situs inversus mutation locus IV.

de Meeus A, Alonso S, Demaille J, Bouvagnet P. de Meeus A, et al. Among authors: demaille j. Mamm Genome. 1992;3(11):637-43. doi: 10.1007/BF00352481. Mamm Genome. 1992. PMID: 1360279

5

Heterotaxia syndrome and autosomal dominant inheritance.

Alonso S, Pierpont ME, Radtke W, Martinez J, Chen SC, Grant JW, Dähnert I, Taviaux S, Romey MC, Demaille J, et al. Alonso S, et al. Among authors: demaille j. Am J Med Genet. 1995 Mar 13;56(1):12-5. doi: 10.1002/ajmg.1320560105. Am J Med Genet. 1995. PMID: 7747776

6

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. de Meeus A, et al. Among authors: demaille j. J Med Genet. 1998 Jul;35(7):594-6. doi: 10.1136/jmg.35.7.594. J Med Genet. 1998. PMID: 9678705 Free PMC article.

7

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. de Meeus A, et al. Among authors: demaille j. Hum Mutat. 1998;11(6):480. doi: 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4. Hum Mutat. 1998. PMID: 10200050

8

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.

Culard JF, Desgeorges M, Romey MC, Malzac P, Demaille J, Claustres M. Culard JF, et al. Among authors: demaille j. Hum Mol Genet. 1994 Feb;3(2):369-70. doi: 10.1093/hmg/3.2.369. Hum Mol Genet. 1994. PMID: 7516233 No abstract available.

9

Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.

Romey MC, Desgeorges M, Malzac P, Sarles J, Demaille J, Claustres M. Romey MC, et al. Among authors: demaille j. Hum Mol Genet. 1994 Apr;3(4):661-2. doi: 10.1093/hmg/3.4.661. Hum Mol Genet. 1994. PMID: 7520799 No abstract available.

10

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.

Romey MC, Desgeorges M, Laussel M, Durand MF, Demaille J, Claustres M. Romey MC, et al. Among authors: demaille j. Hum Mol Genet. 1994 Jun;3(6):1003-4. doi: 10.1093/hmg/3.6.1003. Hum Mol Genet. 1994. PMID: 7524910 No abstract available.

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