BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 34879425)

  • 1. The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.
    Delplancq G; Boukebir MA; Amsallem D; Thines L; Rozé V; Dahlen E; Van Maldergem L; Kuentz P
    Neuropediatrics; 2022 Aug; 53(4):274-278. PubMed ID: 34879425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.
    Meng Y; Yang J; Tian C; Qiao J
    Hereditas; 2020 May; 157(1):23. PubMed ID: 32446308
    [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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.
    Yaga T; Iguchi A; Nakayama R; Kosaki R; Ishiguro A
    Pediatr Int; 2023 Jan; 65(1):e15405. PubMed ID: 36321364
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.
    Chen CP; Lin SP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Wang W
    Taiwan J Obstet Gynecol; 2018 Aug; 57(4):583-587. PubMed ID: 30122583
    [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. 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]  

  • 12. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.
    Almind GJ; Brøndum-Nielsen K; Bangsgaard R; Baekgaard P; Grønskov K
    Mol Cytogenet; 2009 Feb; 2():6. PubMed ID: 19222835
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.
    Yamamoto T; Togawa M; Shimada S; Sangu N; Shimojima K; Okamoto N
    Am J Med Genet A; 2014 Mar; 164A(3):634-8. PubMed ID: 24357251
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion.
    Chen CP; Wang LK; Chern SR; Wu PS; Chen SW; Wu FT; Chen YY; Town DD; Wang W
    Taiwan J Obstet Gynecol; 2021 Jan; 60(1):157-160. PubMed ID: 33494993
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
    Wu D; Wang H; Zhang H; Hou Q; Qin L; Wang T; Xiao H; Liao S; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Sustained endocrine profiles of a girl with WAGR syndrome.
    Takada Y; Sakai Y; Matsushita Y; Ohkubo K; Koga Y; Akamine S; Torio M; Ishizaki Y; Sanefuji M; Torisu H; Shaw CA; Kagami M; Hara T; Ohga S
    BMC Med Genet; 2017 Oct; 18(1):117. PubMed ID: 29061165
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.