190 related articles for article (PubMed ID: 8882796)
1. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
Potocki L; Shaffer LG
Am J Med Genet; 1996 Mar; 62(3):319-25. PubMed ID: 8882796
[TBL] [Abstract][Full Text] [Related]
2. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
Wakui K; Gregato G; Ballif BC; Glotzbach CD; Bailey KA; Kuo PL; Sue WC; Sheffield LJ; Irons M; Gomez EG; Hecht JT; Potocki L; Shaffer LG
Eur J Hum Genet; 2005 May; 13(5):528-40. PubMed ID: 15852040
[TBL] [Abstract][Full Text] [Related]
3. Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
Wuyts W; Roland D; Lüdecke HJ; Wauters J; Foulon M; Van Hul W; Van Maldergem L
Am J Med Genet; 2002 Dec; 113(4):326-32. PubMed ID: 12457403
[TBL] [Abstract][Full Text] [Related]
4. Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
Wuyts W; Waeber G; Meinecke P; Schüler H; Goecke TO; Van Hul W; Bartsch O
Eur J Hum Genet; 2004 May; 12(5):400-6. PubMed ID: 14872200
[TBL] [Abstract][Full Text] [Related]
5. Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
Shaffer LG; Hecht JT; Ledbetter DH; Greenberg F
Am J Med Genet; 1993 Mar; 45(5):581-3. PubMed ID: 8456828
[TBL] [Abstract][Full Text] [Related]
6. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
Brémond-Gignac D; Crolla JA; Copin H; Guichet A; Bonneau D; Taine L; Lacombe D; Baumann C; Benzacken B; Verloes A
Eur J Hum Genet; 2005 Apr; 13(4):409-13. PubMed ID: 15702131
[TBL] [Abstract][Full Text] [Related]
7. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.
Stickens D; Clines G; Burbee D; Ramos P; Thomas S; Hogue D; Hecht JT; Lovett M; Evans GA
Nat Genet; 1996 Sep; 14(1):25-32. PubMed ID: 8782816
[TBL] [Abstract][Full Text] [Related]
8. Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.
Ligon AH; Potocki L; Shaffer LG; Stickens D; Evans GA
Am J Med Genet; 1998 Feb; 75(5):538-40. PubMed ID: 9489802
[No Abstract] [Full Text] [Related]
9. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
Raskind WH; Conrad EU; Matsushita M; Wijsman EM; Wells DE; Chapman N; Sandell LJ; Wagner M; Houck J
Hum Mutat; 1998; 11(3):231-9. PubMed ID: 9521425
[TBL] [Abstract][Full Text] [Related]
10. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
Bartsch O; Wuyts W; Van Hul W; Hecht JT; Meinecke P; Hogue D; Werner W; Zabel B; Hinkel GK; Powell CM; Shaffer LG; Willems PJ
Am J Hum Genet; 1996 Apr; 58(4):734-42. PubMed ID: 8644736
[TBL] [Abstract][Full Text] [Related]
11. A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.
Xiao CY; Wang J; Zhang SZ; Van Hul W; Wuyts W; Qiu WM; Wu H; Zhang G
Br J Cancer; 2001 Jul; 85(2):176-81. PubMed ID: 11461073
[TBL] [Abstract][Full Text] [Related]
12. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
Hall CR; Wu Y; Shaffer LG; Hecht JT
Clin Genet; 2001 Nov; 60(5):356-9. PubMed ID: 11903336
[TBL] [Abstract][Full Text] [Related]
13. A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.
Raedle J; Friedl W; Engels H; Koenig R; Trojan J; Zeuzem S
Am J Gastroenterol; 2001 Oct; 96(10):3016-20. PubMed ID: 11693343
[TBL] [Abstract][Full Text] [Related]
14. Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.
Vujic M; Bergman A; Romanus B; Wahlström J; Martinsson T
Int J Mol Med; 2004 Jan; 13(1):47-52. PubMed ID: 14654969
[TBL] [Abstract][Full Text] [Related]
15. [From gene to disease; hereditary multiple exostoses].
Wuyts W; Bovée JV; Hogendoorn PC
Ned Tijdschr Geneeskd; 2002 Jan; 146(4):162-4. PubMed ID: 11845565
[TBL] [Abstract][Full Text] [Related]
16. [A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].
Hu ZM; Zheng D; Pan Q; Yang YF; Zhao TL; Liu XP; Wu LQ; Jiang DG; Xia K; Xia JH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr; 21(2):97-100. PubMed ID: 15079787
[TBL] [Abstract][Full Text] [Related]
17. Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
Park KJ; Shin KH; Ku JL; Cho TJ; Lee SH; Choi IH; Phillipe C; Monaco AP; Porter DE; Park JG
J Hum Genet; 1999; 44(4):230-4. PubMed ID: 10429361
[TBL] [Abstract][Full Text] [Related]
18. [Molecular cloning of EXT2 and EXT4 gene].
Deng H; Xu L; Ruan Q; Huang L; Xia J
Hunan Yi Ke Da Xue Xue Bao; 1998; 23(6):519-23. PubMed ID: 10806756
[TBL] [Abstract][Full Text] [Related]
19. Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.
Yamamoto Y; Oguro N; Miyao M; Yanagisawa M
Am J Med Genet; 1989 Jan; 32(1):133-5. PubMed ID: 2784939
[TBL] [Abstract][Full Text] [Related]
20. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
Moog U; Engelen JJ; Weber BW; Van Gelderen M; Steyaert J; Baas F; Sijstermans HM; Fryns JP
Genet Couns; 2004; 15(1):73-80. PubMed ID: 15083703
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
