BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 15666301)

  • 1. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
    Chuang L; Wakui K; Sue WC; Su MH; Shaffer LG; Kuo PL
    Am J Med Genet A; 2005 Mar; 133A(2):180-3. PubMed ID: 15666301
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Potocki-Shaffer syndrome: report of one case.
    Chien WH; Sue WC; Kuo PL; Su MH; Lin CL
    Acta Paediatr Taiwan; 2003; 44(4):242-5. PubMed ID: 14674231
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
    Wenger SL; Grossfeld PD; Siu BL; Coad JE; Keller FG; Hummel M
    Am J Med Genet A; 2006 Apr; 140(7):704-8. PubMed ID: 16502431
    [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. 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]  

  • 8. 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]  

  • 9. Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association.
    Kumar MJ; Kumar RA; Subhashree V; Jayasudha T; Hemagowri V; Koshy T; Gowrishankar K
    Cytogenet Genome Res; 2015; 146(2):120-123. PubMed ID: 26226839
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
    Gläser B; Rossier E; Barbi G; Chiaie LD; Blank C; Vogel W; Kehrer-Sawatzki H
    Am J Med Genet A; 2003 Jan; 116A(1):66-70. PubMed ID: 12476454
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
    Karmous-Benailly H; Giuliano F; Massol C; Bloch C; De Ricaud D; Lambert JC; Perelman S
    Eur J Med Genet; 2006; 49(5):431-8. PubMed ID: 16497571
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
    Petek E; Windpassinger C; Simma B; Mueller T; Wagner K; Kroisel PM
    J Hum Genet; 2003; 48(6):283-287. PubMed ID: 12836054
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
    Tzschach A; Krause-Plonka I; Menzel C; Knoblauch A; Toennies H; Hoeltzenbein M; Radke M; Ropers HH; Kalscheuer V
    Am J Med Genet A; 2006 May; 140(10):1108-10. PubMed ID: 16619204
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal.
    Riegel M; Baumer A; Süss J; Schinzel A
    Am J Med Genet A; 2005 May; 135(1):86-90. PubMed ID: 15809996
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.