SCOPUS 정보 검색 플랫폼

Volumn 112, Issue 4, 2002, Pages 427-428

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome [1]

(6) Frints, Suzanna G M a Froyen, Guy a Marynen, Peter a Willekens, Diane b Legius, Eric b Fryns, Jean Pierre b

a DEPARTMENT OF PLANT SYSTEMS BIOLOGY (Belgium)

b UNIVERSITY HOSPITALS LEUVEN (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARX GENE; CASE REPORT; CLINICAL FEATURE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; PARTINGTON SYNDROME; PRIORITY JOURNAL; SYNDROME;

AGED; CHROMOSOMES, HUMAN, X; DYSTONIA; FAMILY HEALTH; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MIDDLE AGED; NERVOUS SYSTEM DISEASES; PEDIGREE; TRANSCRIPTION FACTORS; TREMOR;

EID: 0036838082 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10628 Document Type: Letter

Times cited : (30)

References (4)

1
- 0037090887
- ARX, a novel prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
- Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Jeema LB, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. 2002. ARX, a novel prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 11:981-991.
- (2002) Hum Mol Genet , vol.11 , pp. 981-991
- Bienvenu, T.¹ Poirier, K.² Friocourt, G.³ Bahi, N.⁴ Beaumont, D.⁵ Fauchereau, F.⁶ Jeema, L.B.⁷ Zemni, R.⁸ Vinet, M.C.⁹ Francis, F.¹⁰ Couvert, P.¹¹ Gomot, M.¹² Moraine, C.¹³ Van Bokhoven, H.¹⁴ Kalscheuer, V.¹⁵ Frints, S.¹⁶ Gecz, J.¹⁷ Ohzaki, K.¹⁸ Chaabouni, H.¹⁹ Fryns, J.P.²⁰ more..

2
- 0029888522
- Linkage analysis in three families with nonspecific X-linked mental retardation
- Claes S, Gu XX, Legius E, Lorenzetti E, Marynen P, Fryns JP, Cassiman JJ, Raeymaekers P. 1996. Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet 64:137-146.
- (1996) Am J Med Genet , vol.64 , pp. 137-146
- Claes, S.¹ Gu, X.X.² Legius, E.³ Lorenzetti, E.⁴ Marynen, P.⁵ Fryns, J.P.⁶ Cassiman, J.J.⁷ Raeymaekers, P.⁸

3
- 0036837869
- Clinical study and haplotype analysis in two brothers with partington syndrome
- in press
- Frints SGM, Borghgraef M, Froyen G, Marynen P, Fryns JP. 2002. Clinical study and haplotype analysis in two brothers with partington syndrome. Am J Med Genet in press.
- (2002) Am J Med Genet
- Frints, S.G.M.¹ Borghgraef, M.² Froyen, G.³ Marynen, P.⁴ Fryns, J.P.⁵

4
- 0001665187
- Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
- Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SMS, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SGM, Fryns JP, Sutherland GR, Mulley JC, Gecz J. 2002. Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441-445.
- (2002) Nat Genet , vol.30 , pp. 441-445
- Stromme, P.¹ Mangelsdorf, M.E.² Shaw, M.A.³ Lower, K.M.⁴ Lewis, S.M.S.⁵ Bruyere, H.⁶ Lütcherath, V.⁷ Gedeon, A.K.⁸ Wallace, R.H.⁹ Scheffer, I.E.¹⁰ Turner, G.¹¹ Partington, M.¹² Frints, S.G.M.¹³ Fryns, J.P.¹⁴ Sutherland, G.R.¹⁵ Mulley, J.C.¹⁶ Gecz, J.¹⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.