Bieth E - Search Results

1

[Genetic counseling in cystic fibrosis].

Julia S, Bieth E. Julia S, et al. Among authors: bieth e. Rev Mal Respir. 2000 Aug;17(3 Pt 2):807-11. Rev Mal Respir. 2000. PMID: 11076391 French.

2

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Among authors: bieth e. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036

3

Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.

Daudin M, Bieth E, Bujan L, Massat G, Pontonnier F, Mieusset R. Daudin M, et al. Among authors: bieth e. Fertil Steril. 2000 Dec;74(6):1164-74. doi: 10.1016/s0015-0282(00)01625-3. Fertil Steril. 2000. PMID: 11119745 Free article.

4

[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations].

Federici S, Iron A, Reboul MP, Desgeorges M, Claustres M, Bremont F, Bieth E. Federici S, et al. Among authors: bieth e. Arch Pediatr. 2001 Feb;8(2):150-7. doi: 10.1016/s0929-693x(00)00177-9. Arch Pediatr. 2001. PMID: 11232455 French.

5

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.

De Mas P, Chassaing N, Chaix Y, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. De Mas P, et al. Among authors: bieth e. J Med Genet. 2002 Apr;39(4):e17. doi: 10.1136/jmg.39.4.e17. J Med Genet. 2002. PMID: 11950869 Free PMC article. No abstract available.

6

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A. Reboul MP, et al. Among authors: bieth e. J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73. J Med Genet. 2002. PMID: 12414835 Free PMC article. No abstract available.

7

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.

Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. Chassaing N, et al. Among authors: bieth e. Am J Med Genet A. 2004 Aug 1;128A(4):410-3. doi: 10.1002/ajmg.a.30199. Am J Med Genet A. 2004. PMID: 15264288

8

A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

Niel F, Legendre M, Bienvenu T, Bieth E, Lalau G, Sermet I, Bondeux D, Boukari R, Derelle J, Levy P, Ruszniewski P, Martin J, Costa C, Goossens M, Girodon E. Niel F, et al. Among authors: bieth e. Hum Mutat. 2006 Jul;27(7):716-7. doi: 10.1002/humu.9431. Hum Mutat. 2006. PMID: 16786510

9

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.

Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: bieth e. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712

10

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network. Bubien V, et al. J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335809 Free article.

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