BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 8644736)

  • 1. 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]  

  • 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. Burning down DEFECT11.
    Wuyts W; Van Hul W; Bartsch O; Wilkie AO; Meinecke P
    Am J Med Genet; 2001 May; 100(4):331-5. PubMed ID: 11343325
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. Molecular and clinical examination of an Italian DEFECT11 family.
    Wuyts W; Di Gennaro G; Bianco F; Wauters J; Morocutti C; Pierelli F; Bossuyt P; Van Hul W; Casali C
    Eur J Hum Genet; 1999 Jul; 7(5):579-84. PubMed ID: 10439965
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.
    Tomkins DJ; Hunter AG; Uchida IA; Roberts MH
    Clin Genet; 1982 Dec; 22(6):348-55. PubMed ID: 7160106
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A concordant craniofacial dysostosis with enlarged parietal foramina in twins.
    Lehrer HZ; Familant JW
    Radiology; 1969 Jan; 92(1):127-9 passim. PubMed ID: 5762068
    [No Abstract]   [Full Text] [Related]  

  • 16. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
    Kim HG; Kim HT; Leach NT; Lan F; Ullmann R; Silahtaroglu A; Kurth I; Nowka A; Seong IS; Shen Y; Talkowski ME; Ruderfer D; Lee JH; Glotzbach C; Ha K; Kjaergaard S; Levin AV; Romeike BF; Kleefstra T; Bartsch O; Elsea SH; Jabs EW; MacDonald ME; Harris DJ; Quade BJ; Ropers HH; Shaffer LG; Kutsche K; Layman LC; Tommerup N; Kalscheuer VM; Shi Y; Morton CC; Kim CH; Gusella JF
    Am J Hum Genet; 2012 Jul; 91(1):56-72. PubMed ID: 22770980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.