SCOPUS 정보 검색 플랫폼

Volumn 58, Issue 3, 1996, Pages 499-505

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

(7) Villard, Laurent a Toutain, Annick b Lossi, Anne Marie a Gecz, Jozef c Houdayer, Claude b Moraine, Claude b Fontès, Michel a

a INSERM (France)

b CHU BRETONNEAU (France)

c WOMEN S AND CHILDREN S HOSPITAL (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HEMOGLOBIN H;

ALPHA THALASSEMIA; ARTICLE; BRAIN MATURATION; CHROMOSOME XQ; CONTROLLED STUDY; FACE MALFORMATION; GENE EXPRESSION; GENE ISOLATION; GENE MUTATION; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ALPHA-THALASSEMIA; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA HELICASES; DOSAGE COMPENSATION, GENETIC; FEMALE; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PHENOTYPE; POINT MUTATION; RNA SPLICING; RNA, MESSENGER; SYNDROME; X CHROMOSOME;

EID: 0030043739 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (60)

References (5)

1
- 0026678490
- Methylation of HpaII and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
- Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239
- (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
- Allen, R.C.¹ Zoghbi, H.Y.² Moseley, A.B.³ Rosenblatt, H.M.⁴ Belmont, J.W.⁵

2
- 0024691032
- Isolation and characterisation of a human variable copy number tandem repeat at Xcen-p11.22
- Fraser NJ, Boyd Y, Craig I (1989) Isolation and characterisation of a human variable copy number tandem repeat at Xcen-p11.22. Genomics 5:144-148
- (1989) Genomics , vol.5 , pp. 144-148
- Fraser, N.J.¹ Boyd, Y.² Craig, I.³

3
- 0027955773
- Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
- Gecz J, Pollard H, Consalez GG, Villard L, Stayton C, Millasseau P, Khrestchatisky M, et al (1994) Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet 3:39-44
- (1994) Hum Mol Genet , vol.3 , pp. 39-44
- Gecz, J.¹ Pollard, H.² Consalez, G.G.³ Villard, L.⁴ Stayton, C.⁵ Millasseau, P.⁶ Khrestchatisky, M.⁷

4
- 0027184220
- Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: Identification of three new transcripts
- Gecz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontes M (1993) Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts. Hum Mol Genet 2:1389-1396
- (1993) Hum Mol Genet , vol.2 , pp. 1389-1396
- Gecz, J.¹ Villard, L.² Lossi, A.M.³ Millasseau, P.⁴ Djabali, M.⁵ Fontes, M.⁶

5
- 0028831373
- Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)
- Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BCC, Gardner RJM, et al (1995a) Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet 55:288-299
- (1995) Am J Med Genet , vol.55 , pp. 288-299
- Gibbons, R.J.¹ Brueton, L.² Buckle, V.J.³ Burn, J.⁴ Clayton-Smith, J.⁵ Davison, B.C.C.⁶ Gardner, R.J.M.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.