Amselem S - Search Results

1

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A. Sternberg D, et al. Among authors: amselem s. Brain. 2001 May;124(Pt 5):984-94. doi: 10.1093/brain/124.5.984. Brain. 2001. PMID: 11335700

2

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders.

Sternberg D, Danan C, Lombès A, Laforêt P, Girodon E, Goossens M, Amselem S. Sternberg D, et al. Among authors: amselem s. Hum Mol Genet. 1998 Jan;7(1):33-42. doi: 10.1093/hmg/7.1.33. Hum Mol Genet. 1998. PMID: 9384601

3

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W, Amselem S. Danan C, et al. Among authors: amselem s. Am J Hum Genet. 1999 Aug;65(2):463-73. doi: 10.1086/302484. Am J Hum Genet. 1999. PMID: 10417289 Free PMC article.

4

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P. Girodon-Boulandet E, et al. Among authors: amselem s. Hum Mutat. 2000 Sep;16(3):274-5. doi: 10.1002/1098-1004(200009)16:3<274::aid-humu21>3.3.co;2-6. Hum Mutat. 2000. PMID: 10980545

5

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. Tchernitchko D, et al. Among authors: amselem s. Hum Mutat. 2003 Oct;22(4):339-40. doi: 10.1002/humu.9182. Hum Mutat. 2003. PMID: 12955725

6

Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

Dodé C, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G. Dodé C, et al. Among authors: amselem s. Am J Med Genet. 2000 Jun 5;92(4):241-6. Am J Med Genet. 2000. PMID: 10842288

7

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S. Tchernitchko D, et al. Among authors: amselem s. Arthritis Rheum. 2005 Nov;52(11):3603-5. doi: 10.1002/art.21408. Arthritis Rheum. 2005. PMID: 16255051 Free article.

8

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.

Degoul F, Nelson I, Amselem S, Romero N, Obermaier-Kusser B, Ponsot G, Marsac C, Lestienne P. Degoul F, et al. Among authors: amselem s. Nucleic Acids Res. 1991 Feb 11;19(3):493-6. doi: 10.1093/nar/19.3.493. Nucleic Acids Res. 1991. PMID: 2011523 Free PMC article.

9

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

Hovnanian A, Duquesnoy P, Amselem S, Blanchet-Bardon C, Lathrop M, Dubertret L, Goossens M. Hovnanian A, et al. Among authors: amselem s. J Clin Invest. 1991 Nov;88(5):1716-21. doi: 10.1172/JCI115489. J Clin Invest. 1991. PMID: 1658051 Free PMC article.

10

Laron dwarfism and mutations of the growth hormone-receptor gene.

Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M. Amselem S, et al. N Engl J Med. 1989 Oct 12;321(15):989-95. doi: 10.1056/NEJM198910123211501. N Engl J Med. 1989. PMID: 2779634

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