SCOPUS 정보 검색 플랫폼

Journal of Medical Genetics

Volumn 39, Issue 6, 2002, Pages 430-433

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

(7) Abidi, F E a Holinski Feder, E a Rittinger, O a Kooy, F a Lubs, H A a Stevenson, R E a Schwartz, C E a

a GREENWOOD GENETIC CENTER (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY STUDY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; HUMAN CELL; LETTER; MALE; MENTAL DEFICIENCY; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; TM4SF2 GENE; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

EID: 0036088525 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: 10.1136/jmg.39.6.430 Document Type: Letter

Times cited : (33)

References (33)

1
- 0031922095
- Recurrent risk in mental retardation
- (1998) J Med Genet , vol.35 , pp. 177-182
- Crow, Y.J.¹ Tolmie, J.L.²

2
- 0019193212
- Non specific X-linked mental retardation II: The frequency in British Columbia
- (1980) Am J Med Genet , vol.7 , pp. 461-469
- Herbst, D.S.¹ Miller, J.R.²

3
- 0029924873
- Prevalence of fragile X syndrome
- (1996) Am J Med Genet , vol.64 , pp. 186-189
- Turner, G.¹ Webb, T.² Wake, S.³ Robinson, H.⁴

4
- 0026019548
- XLMR genes: Update 1990
- (1991) Am J Med Genet , vol.38 , pp. 186-189
- Neri, G.¹ Gurrieri, F.² Gal, A.³ Lubs, H.A.⁴

5
- 0033515499
- XLMR genes: Update 1998
- (1999) Am J Med Genet , vol.83 , pp. 237-247
- Lubs, H.¹ Chiurazzi, P.² Arena, J.³ Schwartz, C.⁴ Tranebjaerg, L.⁵ Neri, G.⁶

6
- 4243282333
- Genes for cognitive function: Developments on the X
- (2000) Genome Res , vol.10 , pp. 157-163
- Gecz, J.¹ Mulley, J.²

7
- 0035135676
- XLMR genes: Update 2000
- (2001) Eur J Hum Genet , vol.9 , pp. 71-81
- Chiurazzi, P.¹ Hamel, B.C.J.² Neri, G.³

8
- 0034648499
- Mapping of a gene for non-specific X-linked mental retardation (MRX75) to Xq24-q26
- (2000) Am J Med Genet , vol.93 , pp. 290-293
- Caspari, R.¹ Uhlhaas, S.² Friedl, W.³ Knapp, M.⁴ Propping, P.⁵

9
- 0033968407
- A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
- (2000) Nat Genet , vol.24 , pp. 167-170
- Zemni, R.¹ Bienvenu, T.² Vinet, M.C.³ Sefiani, A.⁴ Carrie, A.⁵ Billuart, P.⁶ McDonell, N.⁷ Couvert, P.⁸ Francis, F.⁹ Chafey, P.¹⁰ Fauchereau, F.¹¹ Friocourt, G.¹² Des Portes, V.¹³ Cardona, A.¹⁴ Frints¹⁵ Meindl, A.¹⁶ Brandau, O.¹⁷ Ronce, N.¹⁸ Moraine, C.¹⁹ Van Bokhoven, H.²⁰ more..

10
- 0030137717
- Identification of the gene FMR2, associated with FRAXE mental retardation
- (1996) Nat Genet , vol.13 , pp. 105-108
- Gecz, J.¹ Gedeon, A.K.² Sutherland, G.R.³ Mulley, J.C.⁴

11
- 0032418301
- Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation
- (1998) Pathol Biol (Paris) , vol.46 , pp. 678
- Billuart, P.¹ Bienvenu, T.² Ronce, N.³ Des Portes, V.⁴ Vinet, M.C.⁵ Zemni, R.⁶ Carrie, A.⁷ Beldjord, C.⁸ Kahn, A.⁹ Moraine, C.¹⁰ Chelly, J.¹¹

12
- 17344369362
- Mutations in GDl1 are responsible for X-linked non-specific mental retardation
- (1998) Nat Genet , vol.19 , pp. 134-139
- D'Adamo, P.¹ Menegon, A.² Lo Nigro, C.³ Grasso, M.⁴ Gulisano, M.⁵ Tamanini, F.⁶ Bienvenu, T.⁷ Gedeon, A.K.⁸ Oostra, B.⁹ Wu, S.K.¹⁰ Tandon, A.¹¹ Valtorta, F.¹² Balch, W.E.¹³ Cherly, J.¹⁴ Toniolo, D.¹⁵

13
- 0031710557
- PAK3 mutation in nonsyndromic X-linked mental retardation
- (1998) Nat Genet , vol.20 , pp. 25-30
- Allen, K.M.¹ Gleeson, J.G.² Bagrodia, S.³ Partington, M.W.⁴ MacMirlan, J.C.⁵ Cerione, R.A.⁶ Mulley, J.C.⁷ Walsh, C.A.⁸

14
- 0034648492
- Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
- (2000) Am J Med Genet , vol.93 , pp. 294-298
- Bienvenu, Z.¹ Des Portes, V.² McDonell, N.³ Carrie, A.⁴ Zemni, R.⁵ Couvert, P.⁶ Ropers, H.H.⁷ Moraine, C.⁸ Van Bokhoven, H.⁹ Fryns, J.P.¹⁰ Allen, K.¹¹ Walsh, C.A.¹² Boue, J.¹³ Kahn, A.¹⁴ Chelly, J.¹⁵ Beldjord, C.¹⁶

15
- 0032910443
- A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
- (1999) Nat Genet , vol.22 , pp. 13-14
- Merienne, K.¹ Jacquot, S.² Pannetier, S.³ Zeniou, M.⁴ Bankier, A.⁵ Gecz, J.⁶ Mandel, J.L.⁷ Mulley, J.⁸ Sassone-Corsi, P.⁹ Hanauer, A.¹⁰

16
- 0032819848
- A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
- (1999) Nat Genet , vol.23 , pp. 25-31
- Carrie, A.¹ Jun, L.² Bienvenu, T.³ Vinet, M.C.⁴ McDonell, N.⁵ Couvert, P.⁶ Zemni, R.⁷ Cardona, A.⁸ Van Buggenhout, G.⁹ Frints, S.¹⁰ Hamel, B.¹¹ Moraine, C.¹² Ropers, H.H.¹³ Strom, T.¹⁴ Howell, G.R.¹⁵ Whittaker, A.¹⁶ Ross, M.T.¹⁷ Kahn, A.¹⁸ Fryns, J.P.¹⁹ Beldjord, C.²⁰ Marynen, P.²¹ Chelly, J.²² more..

17
- 0033775672
- Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
- (2000) Nat Genet , vol.26 , pp. 247-250
- Kutsche, K.¹ Yntema, H.² Brandt, A.³ Jantke, I.⁴ Nothwang, H.G.⁵ Orth, U.⁶ Boavida, M.G.⁷ David, D.⁸ Chelly, J.⁹ Fryns, J.P.¹⁰ Moraine, C.¹¹ Ropers, H.H.¹² Hamel, B.C.¹³ Van Bokhoven, H.¹⁴ Gal, A.¹⁵

18
- 0035870846
- MECP2 is highly mutated in X-linked mental retardation
- (2001) Hum Mol Genet , vol.10 , pp. 941-946
- Couvert, P.¹ Bienvenu, T.² Aquaviva, C.³ Piorier, K.⁴ Moraine, C.⁵ Gendrot, C.⁶ Verloes, A.⁷ Andres, C.⁸ Le Fevre, A.C.⁹ Souville, I.¹⁰ Steffan, J.¹¹ Des Portes, V.¹² Ropers, H.H.¹³ Yntema, H.G.¹⁴ Fryns, J.P.¹⁵ Briault, S.¹⁶ Chelly, J.¹⁷ Cherif, B.¹⁸

19
- 0033365010
- A new neurological syndrome with mental retardation, choreoathetosis and abnormal behavior maps to chromosome Xp11
- (1999) Am J Hum Genet , vol.65 , pp. 1406-1412
- Reyniers, E.¹ Van Bogaert, P.² Peeters, N.³ Vits, L.⁴ Pauly, F.⁵ Fransen, E.⁶ Van Regemorter, N.⁷ Kooy, R.F.⁸

20
- 0030580974
- How many X-linked genes for nonspecific mental retardation are there?
- (1996) Am J Med Genet , vol.64 , pp. 158-162
- Gedeon, A.K.¹ Donnelly, A.² Mulley, J.C.³ Kerr, B.⁴ Turner, G.⁵

21
- 0028245480
- Pericentromeric genes for non-specific X-linked mental retardation (MRX)
- (1994) Am J Med Genet , vol.51 , pp. 553-564
- Gedeon, A.¹ Kerr, B.² Mulley, J.³ Turner, G.⁴

22
- 0029950258
- Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)
- (1996) Am J Med Genet , vol.64 , pp. 125-130
- Holinski-Feder, E.¹ Golla, A.² Rost, I.³ Seidel, H.⁴ Rittinger, O.⁵ Meindl, A.⁶

23
- 0006004386
- Non-syndromic X-linked mental retardation: Mapping of four novel MRX families
- Eighth International Workshop on Fragile X and X-Linked Mental Retardation, August 1997, Picton, Canada
- Holinski-Feder, E.¹ Charockh-Zadeh, S.² Golla, A.³ Rittinger, O.⁴ Seidel, H.⁵ Mbert, A.⁶ Seemanova, E.⁷ Murken, J.⁸ Meindl, A.⁹

24
- 0033543466
- Nonsyndromic X-linked menta retardation: Mapping of MRX58 to the pericentromeric region
- (1999) Am J Med Genet , vol.86 , pp. 102-106
- Holinski-Feder, E.¹ Chahrockh-Zadeh, S.² Rittinger, O.³ Jedele, K.B.⁴ Gasteiger, M.⁵ Lenski, C.⁶ Murken, J.⁷ Golla, A.⁸

25
- 0025085637
- Allan-Herndon syndrome II. Linkage to DNA markers in Xq21
- (1990) Am J Hum Genet , vol.47 , pp. 454-458
- Schwartz, C.E.¹ Ulmer, J.² Brown, A.³ Pancoast, I.⁴ Goodman, H.O.⁵ Stevenson, R.E.⁶

26
- 0033568165
- Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel
- (1999) Genomics , vol.60 , pp. 330-340
- Sossey-Alaoui, K.¹ Lyon, J.A.² Jones, L.³ Abidi, F.E.⁴ Hartung, A.J.⁵ Hane, B.⁶ Schwartz, C.E.⁷ Stevenson, R.E.⁸ Srivastava, A.K.⁹

27
- 0032947973
- Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)
- (1999) Eur J Hum Genet , vol.7 , pp. 20-26
- Abidi, F.¹ Jacquot, S.² Lassiter, C.³ Trivier, E.⁴ Hanauer, A.⁵ Sahwartz, C.⁶

28
- 0030947554
- The tetraspanin superfamily: Molecular facilitators
- (1997) FASEB J , vol.11 , pp. 428-442
- Maecker, H.Z.¹ Todd, S.C.² Levy, S.³

29
- 0035464960
- Monogenic causes of X-linked mental retardation
- (2001) Nat Rev Genet , vol.9 , pp. 669-680
- Chelly, J.¹ Mandel, J.L.²

30
- 0029890398
- XLMR genes: Update 1996
- (1996) Am J Med Genet , vol.64 , pp. 147-157
- Lubs, H.A.¹ Chiurazzi, P.² Arena, J.F.³ Schwartz, C.⁴ Tranebjaerg, L.⁵ Neri, G.⁶

31
- 0003676489
- New York: Oxford University Press
- (2000) X-linked mental retardation
- Stevenson, R.E.¹ Schwartz, C.E.² Schroer, R.J.³

32
- 0034706405
- Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family
- (2000) Am J Med Genet , vol.94 , pp. 376-382
- Russo, S.¹ Cogliati, F.² Cavalleri, F.³ Cassitto, M.G.⁴ Gigliori, R.⁵ Toniolo, D.⁶ Casari, G.⁷ Larizza, L.⁸

33
- 0036488079
- Nonsyndromic X-linked mental retardation associated with a missense mutation in the FGD1 gene
- in press
- Clin Genet
- Lebel, R.R.¹ May, M.² Pouls, S.³ Lubs, H.A.⁴ Stevenson, R.E.⁵ Schwartz, C.E.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.