Carapito R - Search Results

1

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, Dumant-Forest C, Leroux J, Ory B, Isidor B, Bahram S. Carapito R, et al. Eur J Hum Genet. 2016 Dec;24(12):1746-1751. doi: 10.1038/ejhg.2016.84. Epub 2016 Jul 6. Eur J Hum Genet. 2016. PMID: 27381093 Free PMC article.

2

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Carapito R, Paul N, Untrau M, Ott L, Corradini N, Poignant S, Geffroy L, Caldagues E, Heymann MF, Cassagnau E, Isidor B, Bahram S. Carapito R, et al. J Hum Genet. 2014 Jan;59(1):57-9. doi: 10.1038/jhg.2013.118. Epub 2013 Nov 14. J Hum Genet. 2014. PMID: 24225993

3

Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.

Carapito R, Isidor B, Guerouaz N, Untrau M, Radosavljevic M, Launay E, Cassagnau E, Frenard C, Aubert H, Romefort B, Le Caignec C, Ott L, Paul N, Barbarot S, Bahram S. Carapito R, et al. Br J Dermatol. 2015 Jan;172(1):302-5. doi: 10.1111/bjd.13261. Epub 2014 Dec 8. Br J Dermatol. 2015. PMID: 25039711 No abstract available.

4

High diversity of MIC genes in non-human primates.

Meyer A, Carapito R, Ott L, Radosavljevic M, Georgel P, Adams EJ, Parham P, Bontrop RE, Blancher A, Bahram S. Meyer A, et al. Among authors: carapito r. Immunogenetics. 2014 Oct;66(9-10):581-7. doi: 10.1007/s00251-014-0791-4. Epub 2014 Jul 31. Immunogenetics. 2014. PMID: 25073428

5

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis.

Meyer A, Lannes B, Carapito R, Bahram S, Echaniz-Laguna A, Geny B, Sibilia J, Gottenberg JE. Meyer A, et al. Among authors: carapito r. Neuromuscul Disord. 2015 Feb;25(2):149-52. doi: 10.1016/j.nmd.2014.09.009. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25443993

6

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. Carapito R, et al. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Mov Disord. 2015. PMID: 25545163

7

On the genetics of the Silk Route: association analysis of HLA, IL10, and IL23R-IL12RB2 regions with Behçet's disease in an Iranian population.

Carapito R, Shahram F, Michel S, Le Gentil M, Radosavljevic M, Meguro A, Abdollahi BS, Inoko H, Ota M, Davatchi F, Bahram S. Carapito R, et al. Immunogenetics. 2015 Jun;67(5-6):289-93. doi: 10.1007/s00251-015-0841-6. Epub 2015 May 5. Immunogenetics. 2015. PMID: 25940109

8

Genetics, genomics, and evolutionary biology of NKG2D ligands.

Carapito R, Bahram S. Carapito R, et al. Immunol Rev. 2015 Sep;267(1):88-116. doi: 10.1111/imr.12328. Immunol Rev. 2015. PMID: 26284473 Review.

9

Polymorphisms in EGFR and IL28B are associated with spontaneous clearance in an HCV-infected Iranian population.

Carapito R, Poustchi H, Kwemou M, Untrau M, Sharifi AH, Merat S, Haj-Sheykholeslami A, Jabbari H, Esmaili S, Michel S, Toussaint J, Le Gentil M, Ansari-Moghaddam A, Radosavljevic M, Etemadi A, Georgel P, Malekzadeh R, Bahram S. Carapito R, et al. Genes Immun. 2015 Dec;16(8):514-8. doi: 10.1038/gene.2015.38. Epub 2015 Sep 17. Genes Immun. 2015. PMID: 26378651

10

Next-Generation Sequencing of the HLA locus: Methods and impacts on HLA typing, population genetics and disease association studies.

Carapito R, Radosavljevic M, Bahram S. Carapito R, et al. Hum Immunol. 2016 Nov;77(11):1016-1023. doi: 10.1016/j.humimm.2016.04.002. Epub 2016 Apr 5. Hum Immunol. 2016. PMID: 27060029 Review.

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