Abitbol M - Search Results

1

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 Free PMC article.

2

A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria.

Abitbol M, Bernex F, Puy H, Jouault H, Deybach JC, Guénet JL, Montagutelli X. Abitbol M, et al. Am J Physiol Gastrointest Liver Physiol. 2005 Jun;288(6):G1208-16. doi: 10.1152/ajpgi.00505.2004. Epub 2005 Jan 27. Am J Physiol Gastrointest Liver Physiol. 2005. PMID: 15677551 Free article.

3

A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.

Abitbol M, Legrand R, Tiret L. Abitbol M, et al. Anim Genet. 2014 Dec;45(6):878-80. doi: 10.1111/age.12207. Epub 2014 Aug 25. Anim Genet. 2014. PMID: 25155046

4

A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats.

Abitbol M, Bossé P, Thomas A, Tiret L. Abitbol M, et al. PLoS One. 2015 Mar 17;10(3):e0120668. doi: 10.1371/journal.pone.0120668. eCollection 2015. PLoS One. 2015. PMID: 25781316 Free PMC article.

5

A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys.

Abitbol M, Legrand R, Tiret L. Abitbol M, et al. Genet Sel Evol. 2015 Apr 8;47(1):28. doi: 10.1186/s12711-015-0112-x. Genet Sel Evol. 2015. PMID: 25887951 Free PMC article.

6

Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.

Legrand R, Tiret L, Abitbol M. Legrand R, et al. Among authors: abitbol m. Genet Sel Evol. 2014 Sep 25;46(1):65. doi: 10.1186/s12711-014-0065-5. Genet Sel Evol. 2014. PMID: 25927731 Free PMC article.

7

A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.

Abitbol M, Hitte C, Bossé P, Blanchard-Gutton N, Thomas A, Martignat L, Blot S, Tiret L. Abitbol M, et al. PLoS One. 2015 Sep 1;10(9):e0137019. doi: 10.1371/journal.pone.0137019. eCollection 2015. PLoS One. 2015. PMID: 26327126 Free PMC article.

8

Haplosufficiency of PAX3 for melanoma development in Tyr: NRASQ61K; Cdkn2a-/- mice allows identification and sorting of melanoma cells using a Pax3GFP reporter allele.

Campagne C, Reyes-Gomez E, Loiodice S, Gadin S, Ezagal J, Bernex F, Abitbol M, Louise A, Beermann F, Panthier JJ, Aubin-Houzelstein G, Egidy G. Campagne C, et al. Among authors: abitbol m. Melanoma Res. 2016 Feb;26(1):12-20. doi: 10.1097/CMR.0000000000000212. Melanoma Res. 2016. PMID: 26587692 Free article.

9

Allelic heterogeneity of albinism in the domestic cat.

Abitbol M, Bossé P, Grimard B, Martignat L, Tiret L. Abitbol M, et al. Anim Genet. 2017 Feb;48(1):127-128. doi: 10.1111/age.12503. Epub 2016 Sep 15. Anim Genet. 2017. PMID: 27634063 No abstract available.

10

Genetic heterogeneity of polydactyly in Maine Coon cats.

Hamelin A, Conchou F, Fusellier M, Duchenij B, Vieira I, Filhol E, Dufaure de Citres C, Tiret L, Gache V, Abitbol M. Hamelin A, et al. Among authors: abitbol m. J Feline Med Surg. 2020 Dec;22(12):1103-1113. doi: 10.1177/1098612X20905061. Epub 2020 Feb 18. J Feline Med Surg. 2020. PMID: 32067556 Free PMC article.

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