120 related articles for article (PubMed ID: 11903336)
1. 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]
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. 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]
4. 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]
5. Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
McCool C; Spinks-Franklin A; Noroski LM; Potocki L
Am J Med Genet A; 2017 Mar; 173(3):716-720. PubMed ID: 28127865
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Labonne JD; Vogt J; Reali L; Kong IK; Layman LC; Kim HG
Am J Med Genet A; 2015 Dec; 167A(12):3011-8. PubMed ID: 26333423
[TBL] [Abstract][Full Text] [Related]
8. The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Sohn YB; Yim SY; Cho EH; Kim OH
J Korean Med Sci; 2015 Feb; 30(2):214-7. PubMed ID: 25653495
[TBL] [Abstract][Full Text] [Related]
9. Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A; Gaillard M; Guerry F; Ramelli G; Heidi F; Keddache CV; Wieland I; Beckmann JS; Jaquemont S; Martinet D
Am J Med Genet A; 2014 Feb; 164A(2):346-52. PubMed ID: 24376213
[TBL] [Abstract][Full Text] [Related]
10. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
Wu YQ; Badano JL; McCaskill C; Vogel H; Potocki L; Shaffer LG
Am J Hum Genet; 2000 Nov; 67(5):1327-32. PubMed ID: 11017806
[TBL] [Abstract][Full Text] [Related]
11. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
Swarr DT; Bloom D; Lewis RA; Elenberg E; Friedman EM; Glotzbach C; Wissman SD; Shaffer LG; Potocki L
Am J Med Genet A; 2010 Mar; 152A(3):565-72. PubMed ID: 20140962
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L
Gene; 2013 Feb; 515(2):339-48. PubMed ID: 23262345
[TBL] [Abstract][Full Text] [Related]
14. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Montgomery ND; Turcott CM; Tepperberg JH; McDonald MT; Aylsworth AS
Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
[TBL] [Abstract][Full Text] [Related]
15. Hypertension in Potocki-Shaffer syndrome: A case report.
Wissman SD; McCool C; Potocki L; Elenberg E
Eur J Med Genet; 2020 Jan; 63(1):103633. PubMed ID: 30797056
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka K; Sugawara Y; Shimoji T; Nordtveit TI; Kato M; Nakashima M; Saitsu H; Suzuki T; Yamakawa K; Aukrust I; Houge G; Mitsuhashi S; Takata A; Iwama K; Alkanaq A; Fujita A; Imagawa E; Mizuguchi T; Miyake N; Miyatake S; Matsumoto N
Eur J Hum Genet; 2019 Mar; 27(3):378-383. PubMed ID: 30487643
[TBL] [Abstract][Full Text] [Related]
18. Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.
Romeike BF; Wuyts W
Clin Neuropathol; 2007; 26(1):1-11. PubMed ID: 17290930
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
Butera A; Nicotera AG; Di Rosa G; Musumeci SA; Vitello GA; Musumeci A; Vinci M; Gloria A; Federico C; Saccone S; Calì F
Int J Mol Sci; 2022 Dec; 23(24):. PubMed ID: 36555772
[No Abstract] [Full Text] [Related]
[Next] [New Search]
