Bellanné-Chantelot C - Search Results

1

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P. Sabbagh A, et al. Hum Mutat. 2013 Nov;34(11):1510-8. doi: 10.1002/humu.22392. Epub 2013 Aug 26. Hum Mutat. 2013. PMID: 23913538

2

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P; members of the NF France Network; Parfait B. Imbard A, et al. J Hum Genet. 2015 Apr;60(4):221-4. doi: 10.1038/jhg.2015.6. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631097

3

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.

Godart F, Bellanné-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanché H, Boutin P, Chèvre JC, Froguel P, Bailleul B. Godart F, et al. Hum Mutat. 2000;15(2):173-80. doi: 10.1002/(SICI)1098-1004(200002)15:2<173::AID-HUMU6>3.0.CO;2-W. Hum Mutat. 2000. PMID: 10649494

4

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

Blanché H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanné-Chantelot C. Blanché H, et al. Hum Genet. 1997 Nov;101(1):56-60. doi: 10.1007/s004390050586. Hum Genet. 1997. PMID: 9385370

5

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Velho G, Blanché H, Vaxillaire M, Bellanné-Chantelot C, Pardini VC, Timsit J, Passa P, Deschamps I, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, Froguel P. Velho G, et al. Diabetologia. 1997 Feb;40(2):217-24. doi: 10.1007/s001250050666. Diabetologia. 1997. PMID: 9049484

6

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

Saint-Martin C, Cauchois-Le Mière M, Rex E, Soukarieh O, Arnoux JB, Buratti J, Bouvet D, Frébourg T, Gaildrat P, Shyng SL, Bellanné-Chantelot C, Martins A. Saint-Martin C, et al. Hum Mutat. 2021 Apr;42(4):408-420. doi: 10.1002/humu.24164. Epub 2021 Jan 28. Hum Mutat. 2021. PMID: 33410562 Free PMC article.

7

[The PROGENE study, the French project of genetic analysis of familial prostatic cancer: recruitment and analysis].

Valeri A, Berthon P, Fournier G, Buzzi JC, Briollais L, Meria P, Blanche H, Bellanne-Chantelot C, Teillac P, Demenais F, Mangin P, Cohen N, Le Duc A, Cussenot O. Valeri A, et al. Prog Urol. 1996 Apr;6(2):226-35. Prog Urol. 1996. PMID: 8777415 French.

8

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

Lajić S, Clauin S, Robins T, Vexiau P, Blanché H, Bellanne-Chantelot C, Wedell A. Lajić S, et al. J Clin Endocrinol Metab. 2002 Jun;87(6):2824-9. doi: 10.1210/jcem.87.6.8525. J Clin Endocrinol Metab. 2002. PMID: 12050257

9

Optimization of nonisotopic PCR-single-strand conformation polymorphism analysis.

Blanché H, Valette C, Bellanné-Chantelot C. Blanché H, et al. Clin Chem. 1997 Nov;43(11):2190-2. Clin Chem. 1997. PMID: 9365411 No abstract available.

10

Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.

Carette C, Dubois-Laforgue D, Saint-Martin C, Clauin S, Beaufils S, Larger E, Sola A, Mosnier-Pudar H, Timsit J, Bellanné-Chantelot C. Carette C, et al. Diabet Med. 2010 Dec;27(12):1454-8. doi: 10.1111/j.1464-5491.2010.03115.x. Diabet Med. 2010. PMID: 21105491

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