BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 22653535)

  • 1. Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
    Levy B; Tegay D; Papenhausen P; Tepperberg J; Nahum O; Tsuchida T; Pletcher BA; Ala-Kokko L; Baker S; Frederick B; Hirschhorn K; Warburton P; Shanske A
    Genet Med; 2012 Sep; 14(9):811-8. PubMed ID: 22653535
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
    Au PY; Racher HE; Graham JM; Kramer N; Lowry RB; Parboosingh JS; Innes AM;
    Am J Med Genet A; 2014 Mar; 164A(3):676-84. PubMed ID: 24357594
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
    George-Abraham JK; Zimmerman SL; Hinton RB; Marino BS; Witte DP; Hopkin RJ
    Am J Med Genet A; 2012 Aug; 158A(8):1971-6. PubMed ID: 22711292
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.
    Xu H; Xiao B; Ji X; Hu Q; Chen Y; Qiu W
    Eur J Med Genet; 2014 Jul; 57(7):329-33. PubMed ID: 24793337
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.
    Blennow E; Telenius H; de Vos D; Larsson C; Henriksson P; Johansson O; Carter NP; Nordenskjöld M
    Am J Hum Genet; 1994 May; 54(5):877-83. PubMed ID: 8178828
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Germline mosacism in Shprintzen-Goldberg syndrome.
    Shanske AL; Goodrich JT; Ala-Kokko L; Baker S; Frederick B; Levy B
    Am J Med Genet A; 2012 Jul; 158A(7):1574-8. PubMed ID: 22639450
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Intraoperative absent bilateral medial recti in syndromic craniosynostosis.
    Chaurasia S; Sharma P; Surve A; Chaurasia S
    BMJ Case Rep; 2021 Jan; 14(1):. PubMed ID: 33461988
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Shprintzen-Goldberg syndrome associated with first cervical vertebra defects.
    Saito T; Nakane T; Yagasaki H; Naito A; Sugita K
    Pediatr Int; 2017 Oct; 59(10):1098-1100. PubMed ID: 28857439
    [No Abstract]   [Full Text] [Related]  

  • 9. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
    Schepers D; Doyle AJ; Oswald G; Sparks E; Myers L; Willems PJ; Mansour S; Simpson MA; Frysira H; Maat-Kievit A; Van Minkelen R; Hoogeboom JM; Mortier GR; Titheradge H; Brueton L; Starr L; Stark Z; Ockeloen C; Lourenco CM; Blair E; Hobson E; Hurst J; Maystadt I; Destrée A; Girisha KM; Miller M; Dietz HC; Loeys B; Van Laer L
    Eur J Hum Genet; 2015 Feb; 23(2):224-8. PubMed ID: 24736733
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome.
    Rowe AG; Abrams L; Qu Y; Chen E; Cotter PD
    Am J Med Genet; 2000 Aug; 93(5):393-8. PubMed ID: 10951463
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intrachromosomal triplication for the distal part of chromosome 15q.
    Schluth C; Mattei MG; Mignon-Ravix C; Salman S; Alembik Y; Willig J; Ginglinger E; Jeandidier E
    Am J Med Genet A; 2005 Jul; 136(2):179-84. PubMed ID: 15940678
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two new cases of analphoid marker chromosomes.
    Spiegel M; Hickmann G; Senger G; Kozlowski P; Bartsch O
    Am J Med Genet A; 2003 Jan; 116A(3):284-9. PubMed ID: 12503108
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.
    Hu J; McPherson E; Surti U; Hasegawa SL; Gunawardena S; Gollin SM
    Am J Med Genet; 2002 Nov; 113(1):82-8. PubMed ID: 12400070
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Relevance of new genetic tests in the diagnosis of short stature with dysmorphic features.
    Bahíllo-Curieses MP; Galbis Soto S; Tellería Orriols JJ
    Med Clin (Barc); 2016 Dec; 147(12):e67-e68. PubMed ID: 27823796
    [No Abstract]   [Full Text] [Related]  

  • 15. TGF-β signalopathies as a paradigm for translational medicine.
    Cannaerts E; van de Beek G; Verstraeten A; Van Laer L; Loeys B
    Eur J Med Genet; 2015 Dec; 58(12):695-703. PubMed ID: 26598797
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnosis and clinical delineation of mosaic tetrasomy 5p.
    Blakey-Cheung S; Parker P; Schlaff W; Monseur B; Keppler-Noreuil K; Al-Kouatly HB
    Eur J Med Genet; 2020 Jan; 63(1):103634. PubMed ID: 30797979
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome.
    Kimura N; Inaba Y; Kameyama K; Shimizu H
    Interact Cardiovasc Thorac Surg; 2018 Jun; 26(6):1039-1040. PubMed ID: 29346558
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.
    Huang XL; de Michelena MI; Mark H; Harston R; Benke PJ; Price SJ; Milunsky A
    Clin Genet; 2005 Dec; 68(6):513-9. PubMed ID: 16283881
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
    Quinonez SC; Gelehrter TD; Uhlmann WR
    Am J Med Genet A; 2017 Jan; 173(1):268-273. PubMed ID: 27739187
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Shprintzen-Goldberg Syndrome: A Rare Disorder.
    Bari A; Sadaqat N; Nawaz N; Bano I
    J Coll Physicians Surg Pak; 2019 Jun; 29(6):S41-S42. PubMed ID: 31142417
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.