224 related articles for article (PubMed ID: 17517686)
1. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.
Bi W; Yan J; Shi X; Yuva-Paylor LA; Antalffy BA; Goldman A; Yoo JW; Noebels JL; Armstrong DL; Paylor R; Lupski JR
Hum Mol Genet; 2007 Aug; 16(15):1802-13. PubMed ID: 17517686
[TBL] [Abstract][Full Text] [Related]
2. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
Bi W; Ohyama T; Nakamura H; Yan J; Visvanathan J; Justice MJ; Lupski JR
Hum Mol Genet; 2005 Apr; 14(8):983-95. PubMed ID: 15746153
[TBL] [Abstract][Full Text] [Related]
3. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
Yan J; Keener VW; Bi W; Walz K; Bradley A; Justice MJ; Lupski JR
Hum Mol Genet; 2004 Nov; 13(21):2613-24. PubMed ID: 15459175
[TBL] [Abstract][Full Text] [Related]
4. Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
Girirajan S; Elsea SH
Eur J Med Genet; 2009; 52(4):224-8. PubMed ID: 19116176
[TBL] [Abstract][Full Text] [Related]
5. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
Walz K; Spencer C; Kaasik K; Lee CC; Lupski JR; Paylor R
Hum Mol Genet; 2004 Feb; 13(4):367-78. PubMed ID: 14709593
[TBL] [Abstract][Full Text] [Related]
6. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
Walz K; Paylor R; Yan J; Bi W; Lupski JR
J Clin Invest; 2006 Nov; 116(11):3035-41. PubMed ID: 17024248
[TBL] [Abstract][Full Text] [Related]
7. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
[TBL] [Abstract][Full Text] [Related]
8. How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
Girirajan S; Patel N; Slager RE; Tokarz ME; Bucan M; Wiley JL; Elsea SH
Eur J Hum Genet; 2008 Aug; 16(8):941-54. PubMed ID: 18285828
[TBL] [Abstract][Full Text] [Related]
9. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
Yan J; Bi W; Lupski JR
Am J Hum Genet; 2007 Mar; 80(3):518-25. PubMed ID: 17273973
[TBL] [Abstract][Full Text] [Related]
10. Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
Williams SR; Girirajan S; Tegay D; Nowak N; Hatchwell E; Elsea SH
J Med Genet; 2010 Apr; 47(4):223-9. PubMed ID: 19752160
[TBL] [Abstract][Full Text] [Related]
11. Smith-Magenis syndrome.
Elsea SH; Girirajan S
Eur J Hum Genet; 2008 Apr; 16(4):412-21. PubMed ID: 18231123
[TBL] [Abstract][Full Text] [Related]
12. Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.
Lacaria M; Gu W; Lupski JR
Am J Med Genet A; 2013 Jul; 161A(7):1561-8. PubMed ID: 23703963
[TBL] [Abstract][Full Text] [Related]
13. Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
Cao L; Molina J; Abad C; Carmona-Mora P; Cárdenas Oyarzo A; Young JI; Walz K
Hum Mol Genet; 2014 Apr; 23(7):1771-82. PubMed ID: 24218365
[TBL] [Abstract][Full Text] [Related]
14. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
Lacaria M; Saha P; Potocki L; Bi W; Yan J; Girirajan S; Burns B; Elsea S; Walz K; Chan L; Lupski JR; Gu W
PLoS Genet; 2012; 8(5):e1002713. PubMed ID: 22654670
[TBL] [Abstract][Full Text] [Related]
15. Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome.
Huang WH; Wang DC; Allen WE; Klope M; Hu H; Shamloo M; Luo L
Proc Natl Acad Sci U S A; 2018 Oct; 115(42):10744-10749. PubMed ID: 30275311
[TBL] [Abstract][Full Text] [Related]
16. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
Molina J; Carmona-Mora P; Chrast J; Krall PM; Canales CP; Lupski JR; Reymond A; Walz K
Hum Mol Genet; 2008 Aug; 17(16):2486-95. PubMed ID: 18469339
[TBL] [Abstract][Full Text] [Related]
17. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
[TBL] [Abstract][Full Text] [Related]
18. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Potocki L; Bi W; Treadwell-Deering D; Carvalho CM; Eifert A; Friedman EM; Glaze D; Krull K; Lee JA; Lewis RA; Mendoza-Londono R; Robbins-Furman P; Shaw C; Shi X; Weissenberger G; Withers M; Yatsenko SA; Zackai EH; Stankiewicz P; Lupski JR
Am J Hum Genet; 2007 Apr; 80(4):633-49. PubMed ID: 17357070
[TBL] [Abstract][Full Text] [Related]
19. Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior.
Carmona-Mora P; Walz K
Curr Genomics; 2010 Dec; 11(8):607-17. PubMed ID: 21629438
[TBL] [Abstract][Full Text] [Related]
20. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Girirajan S; Elsas LJ; Devriendt K; Elsea SH
J Med Genet; 2005 Nov; 42(11):820-8. PubMed ID: 15788730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
