Schuffenecker I - Search Results

1

RET proto-oncogene mutations in French MEN 2A and FMTC families.

Schuffenecker I, Billaud M, Calender A, Chambe B, Ginet N, Calmettes C, Modigliani E, Lenoir GM. Schuffenecker I, et al. Hum Mol Genet. 1994 Nov;3(11):1939-43. doi: 10.1093/hmg/3.11.1939. Hum Mol Genet. 1994. PMID: 7874109

2

The genetics of multiple endocrine neoplasia (MEN).

Calender A, Schuffenecker I, Lenoir GM. Calender A, et al. Among authors: schuffenecker i. Horm Res. 1992;38 Suppl 2:16-23. doi: 10.1159/000182587. Horm Res. 1992. PMID: 1363412 Review.

3

The gene for MEN 2A is tightly linked to the centromere of chromosome 10.

Narod SA, Sobol H, Schuffenecker I, Lavoué MF, Lenoir GM. Narod SA, et al. Among authors: schuffenecker i. Hum Genet. 1991 Mar;86(5):529-30. doi: 10.1007/BF00194649. Hum Genet. 1991. PMID: 1673115

4

Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families.

Rossel M, Schuffenecker I, Schlumberger M, Bonnardel C, Modigliani E, Gardet P, Navarro J, Luo Y, Romeo G, Lenoir G, et al. Rossel M, et al. Among authors: schuffenecker i. Hum Genet. 1995 Apr;95(4):403-6. doi: 10.1007/BF00208964. Hum Genet. 1995. PMID: 7705835

5

[Analysis of the RET gene and medullary cancer of the thyroid. Contribution to the diagnosis and treatment].

Schuffenecker I, Chambe B, Lenoir G. Schuffenecker I, et al. Ann Endocrinol (Paris). 1996;57(1):9-14. Ann Endocrinol (Paris). 1996. PMID: 8734283 Review. French.

6

Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.

Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir GM. Schuffenecker I, et al. Am J Hum Genet. 1997 Jan;60(1):233-7. Am J Hum Genet. 1997. PMID: 8981969 Free PMC article. No abstract available.

7

Distinct biological properties of two RET isoforms activated by MEN 2A and MEN 2B mutations.

Rossel M, Pasini A, Chappuis S, Geneste O, Fournier L, Schuffenecker I, Takahashi M, van Grunsven LA, Urdiales JL, Rudkin BB, Lenoir GM, Billaud M. Rossel M, et al. Among authors: schuffenecker i. Oncogene. 1997 Jan 23;14(3):265-75. doi: 10.1038/sj.onc.1200831. Oncogene. 1997. PMID: 9018112

8

Genetic testing in presymptomatic diagnosis of multiple endocrine neoplasia.

Calender A, Giraud S, Schuffenecker I, Lenoir GM, Gaudray P, Courseaux A, Porchet N, Aubert JP, Zhang CX. Calender A, et al. Among authors: schuffenecker i. Horm Res. 1997;47(4-6):199-210. doi: 10.1159/000185465. Horm Res. 1997. PMID: 9167953 Review.

9

Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

Pasini A, Geneste O, Legrand P, Schlumberger M, Rossel M, Fournier L, Rudkin BB, Schuffenecker I, Lenoir GM, Billaud M. Pasini A, et al. Among authors: schuffenecker i. Oncogene. 1997 Jul 24;15(4):393-402. doi: 10.1038/sj.onc.1201199. Oncogene. 1997. PMID: 9242375

10

Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine.

Schuffenecker I, Virally-Monod M, Brohet R, Goldgar D, Conte-Devolx B, Leclerc L, Chabre O, Boneu A, Caron J, Houdent C, Modigliani E, Rohmer V, Schlumberger M, Eng C, Guillausseau PJ, Lenoir GM. Schuffenecker I, et al. J Clin Endocrinol Metab. 1998 Feb;83(2):487-91. doi: 10.1210/jcem.83.2.4529. J Clin Endocrinol Metab. 1998. PMID: 9467562

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