Similar articles for PMID: 8644709

Year	Number of Results
1987	1
1991	2
1992	3
1993	4
1994	3
1995	6
1996	8
1997	4
1998	6
1999	6
2000	7
2001	1
2002	6
2003	4
2004	4
2005	10
2006	9
2007	2
2008	2
2009	7
2010	2
2011	6
2012	3
2013	3
2014	3
2015	3
2016	4
2017	5
2019	2
2020	3
2021	4
2022	4
2023	1
2024	0

1

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. Villard L, et al. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

2

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

Villard L, Lacombe D, Fontés M. Villard L, et al. Eur J Hum Genet. 1996;4(6):316-20. doi: 10.1159/000472225. Eur J Hum Genet. 1996. PMID: 9043863

3

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.

Fichera M, Silengo M, Spalletta A, Giudice ML, Romano C, Ragusa A. Fichera M, et al. Prenat Diagn. 2001 Sep;21(9):747-51. doi: 10.1002/pd.142. Prenat Diagn. 2001. PMID: 11559911

4

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.

Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M. Villard L, et al. Genomics. 1997 Jul 15;43(2):149-55. doi: 10.1006/geno.1997.4793. Genomics. 1997. PMID: 9244431

5

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K. Ion A, et al. Am J Hum Genet. 1996 Jun;58(6):1185-91. Am J Hum Genet. 1996. PMID: 8651295 Free PMC article.

6

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Gibbons RJ, et al. Cell. 1995 Mar 24;80(6):837-45. doi: 10.1016/0092-8674(95)90287-2. Cell. 1995. PMID: 7697714 Free article.

7

XNP mutation in a large family with Juberg-Marsidi syndrome.

Villard L, Gecz J, Mattéi JF, Fontés M, Saugier-Veber P, Munnich A, Lyonnet S. Villard L, et al. Nat Genet. 1996 Apr;12(4):359-60. doi: 10.1038/ng0496-359. Nat Genet. 1996. PMID: 8630485 No abstract available.

8

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Am J Med Genet. 2002 Jul 1;110(3):243-7. doi: 10.1002/ajmg.10446. Am J Med Genet. 2002. PMID: 12116232

9

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ, Higgs DR. Gibbons RJ, et al. Am J Med Genet. 2000 Fall;97(3):204-12. doi: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X. Am J Med Genet. 2000. PMID: 11449489 Review.

10

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L. Cardoso C, et al. J Med Genet. 2000 Oct;37(10):746-51. doi: 10.1136/jmg.37.10.746. J Med Genet. 2000. PMID: 11015451 Free PMC article.

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