Amselem S - Search Results

1

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.

Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S. Chapelin C, et al. Among authors: amselem s. FEBS Lett. 1997 Jul 28;412(2):325-30. doi: 10.1016/s0014-5793(97)00800-4. FEBS Lett. 1997. PMID: 9256245

2

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Hovnanian A, Duquesnoy P, Blanchet-Bardon C, Knowlton RG, Amselem S, Lathrop M, Dubertret L, Uitto J, Goossens M. Hovnanian A, et al. Among authors: amselem s. J Clin Invest. 1992 Sep;90(3):1032-6. doi: 10.1172/JCI115916. J Clin Invest. 1992. PMID: 1355776 Free PMC article.

3

[Mitochondrial dysfunction in human pathology].

Geny C, Amselem S, Danan C, Degos JD. Geny C, et al. Among authors: amselem s. Ann Med Interne (Paris). 1992;143(2):128-35. Ann Med Interne (Paris). 1992. PMID: 1530221 Review. French. No abstract available.

4

Identification of a new mutation responsible for hepatoerythropoietic porphyria.

Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo PH. Romana M, et al. Among authors: amselem s. Eur J Clin Invest. 1991 Apr;21(2):225-9. doi: 10.1111/j.1365-2362.1991.tb01814.x. Eur J Clin Invest. 1991. PMID: 1905636

5

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

Attree O, Vidaud D, Vidaud M, Amselem S, Lavergne JM, Goossens M. Attree O, et al. Among authors: amselem s. Genomics. 1989 Apr;4(3):266-72. doi: 10.1016/0888-7543(89)90330-3. Genomics. 1989. PMID: 2714791

6

Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA.

Amselem S, Nunes V, Vidaud M, Estivill X, Wong C, d'Auriol L, Vidaud D, Galibert F, Baiget M, Goossens M. Amselem S, et al. Am J Hum Genet. 1988 Jul;43(1):95-100. Am J Hum Genet. 1988. PMID: 2897787 Free PMC article.

7

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M. Duriez B, et al. Among authors: amselem s. FEBS Lett. 1994 Jun 13;346(2-3):165-70. doi: 10.1016/0014-5793(94)00457-9. FEBS Lett. 1994. PMID: 8013627

8

Molecular genetics of Laron-type GH insensitivity syndrome.

Goossens M, Amselem S, Duquesnoy P, Sobrier ML. Goossens M, et al. Among authors: amselem s. Recent Prog Horm Res. 1993;48:165-78. doi: 10.1016/b978-0-12-571148-7.50010-5. Recent Prog Horm Res. 1993. PMID: 8441847 Review. No abstract available.

9

Expression and binding properties of two isoforms of the human growth hormone receptor.

Sobrier ML, Duquesnoy P, Duriez B, Amselem S, Goossens M. Sobrier ML, et al. Among authors: amselem s. FEBS Lett. 1993 Mar 15;319(1-2):16-20. doi: 10.1016/0014-5793(93)80028-s. FEBS Lett. 1993. PMID: 8454051

10

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M. Amselem S, et al. Hum Mol Genet. 1993 Apr;2(4):355-9. doi: 10.1093/hmg/2.4.355. Hum Mol Genet. 1993. PMID: 8504296

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