Austerlitz F - Search Results

1

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC. Gouya L, et al. Among authors: austerlitz f. Am J Hum Genet. 2006 Jan;78(1):2-14. doi: 10.1086/498620. Epub 2005 Nov 15. Am J Hum Genet. 2006. PMID: 16385445 Free PMC article.

2

Detecting population growth, selection and inherited fertility from haplotypic data in humans.

Austerlitz F, Kalaydjieva L, Heyer E. Austerlitz F, et al. Genetics. 2003 Nov;165(3):1579-86. doi: 10.1093/genetics/165.3.1579. Genetics. 2003. PMID: 14668404 Free PMC article.

3

The genetic or mythical ancestry of descent groups: lessons from the Y chromosome.

Chaix R, Austerlitz F, Khegay T, Jacquesson S, Hammer MF, Heyer E, Quintana-Murci L. Chaix R, et al. Among authors: austerlitz f. Am J Hum Genet. 2004 Dec;75(6):1113-6. doi: 10.1086/425938. Epub 2004 Oct 1. Am J Hum Genet. 2004. PMID: 15467979 Free PMC article.

4

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Aquaron R, Soufir N, Bergé-Lefranc JL, Badens C, Austerlitz F, Grandchamp B. Aquaron R, et al. Among authors: austerlitz f. J Hum Genet. 2007;52(9):771-780. doi: 10.1007/s10038-007-0181-y. Epub 2007 Sep 1. J Hum Genet. 2007. PMID: 17767372

5

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A. Soufir N, et al. Among authors: austerlitz f. J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7. J Invest Dermatol. 2010. PMID: 20054342 Free article.

6

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.

Minder EI, Schneider-Yin X, Mamet R, Horev L, Neuenschwander S, Baumer A, Austerlitz F, Puy H, Schoenfeld N. Minder EI, et al. Among authors: austerlitz f. J Eur Acad Dermatol Venereol. 2010 Nov;24(11):1349-53. doi: 10.1111/j.1468-3083.2010.03640.x. J Eur Acad Dermatol Venereol. 2010. PMID: 20337824

7

The Genetic Architecture of Chronic Mountain Sickness in Peru.

Gazal S, Espinoza JR, Austerlitz F, Marchant D, Macarlupu JL, Rodriguez J, Ju-Preciado H, Rivera-Chira M, Hermine O, Leon-Velarde F, Villafuerte FC, Richalet JP, Gouya L. Gazal S, et al. Among authors: austerlitz f. Front Genet. 2019 Jul 30;10:690. doi: 10.3389/fgene.2019.00690. eCollection 2019. Front Genet. 2019. PMID: 31417607 Free PMC article.

8

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

Patin E, Barreiro LB, Sabeti PC, Austerlitz F, Luca F, Sajantila A, Behar DM, Semino O, Sakuntabhai A, Guiso N, Gicquel B, McElreavey K, Harding RM, Heyer E, Quintana-Murci L. Patin E, et al. Among authors: austerlitz f. Am J Hum Genet. 2006 Mar;78(3):423-36. doi: 10.1086/500614. Epub 2006 Jan 13. Am J Hum Genet. 2006. PMID: 16416399 Free PMC article.

9

In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations.

Martínez-Cruz B, Vitalis R, Ségurel L, Austerlitz F, Georges M, Théry S, Quintana-Murci L, Hegay T, Aldashev A, Nasyrova F, Heyer E. Martínez-Cruz B, et al. Among authors: austerlitz f. Eur J Hum Genet. 2011 Feb;19(2):216-23. doi: 10.1038/ejhg.2010.153. Epub 2010 Sep 8. Eur J Hum Genet. 2011. PMID: 20823912 Free PMC article.

10

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.

Fiore M, Pillois X, Nurden P, Nurden AT, Austerlitz F. Fiore M, et al. Among authors: austerlitz f. Eur J Hum Genet. 2011 Sep;19(9):981-7. doi: 10.1038/ejhg.2011.61. Epub 2011 Apr 13. Eur J Hum Genet. 2011. PMID: 21487445 Free PMC article.

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