BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

264 related articles for article (PubMed ID: 31087544)

  • 21. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Palumbo P; Accadia M; Leone MP; Palladino T; Stallone R; Carella M; Palumbo O
    Am J Med Genet A; 2018 Feb; 176(2):391-398. PubMed ID: 29193617
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
    Shaffer LG; Theisen A; Bejjani BA; Ballif BC; Aylsworth AS; Lim C; McDonald M; Ellison JW; Kostiner D; Saitta S; Shaikh T
    Genet Med; 2007 Sep; 9(9):607-16. PubMed ID: 17873649
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
    Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A clinical case report and literature review of the 3q29 microdeletion syndrome.
    Cox DM; Butler MG
    Clin Dysmorphol; 2015 Jul; 24(3):89-94. PubMed ID: 25714563
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
    Dhamija R; Breningstall G; Wong-Kisiel L; Dolan M; Hirsch B; Wirrell E
    Pediatr Neurol; 2011 Jul; 45(1):60-2. PubMed ID: 21723464
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
    Hyder Z; Fairclough A; Douzgou S
    Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
    [TBL] [Abstract][Full Text] [Related]  

  • 27. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
    Uctepe E; Aktas D; Alikasifoglu M; Gunduz E; Sonmez FM
    Genet Couns; 2016; 27(3):357-365. PubMed ID: 30204964
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].
    Arroyo-Carrera I; de Zaldívar-Tristancho MS; Martín-Fernández R; Hernández-Martín R; López-Lafuente A; Rodríguez-Revenga L
    Rev Neurol; 2015 May; 60(10):453-6. PubMed ID: 25952600
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Subtelomeric microdeletion in chromosome 20p13 associated with short stature.
    Liu J; Li Y; Andersson HC; Upadia J
    Clin Case Rep; 2024 Jun; 12(6):e8927. PubMed ID: 38863865
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
    Lévy J; Coussement A; Dupont C; Guimiot F; Baumann C; Viot G; Passemard S; Capri Y; Drunat S; Verloes A; Pipiras E; Benzacken B; Dupont JM; Tabet AC
    Am J Med Genet A; 2017 Aug; 173(8):2081-2087. PubMed ID: 28573701
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review.
    Vlaikou AM; Manolakos E; Noutsopoulos D; Markopoulos G; Liehr T; Vetro A; Ziegler M; Weise A; Kreskowski K; Papoulidis I; Thomaidis L; Syrrou M
    Cytogenet Genome Res; 2014; 142(4):227-38. PubMed ID: 24733116
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
    Menten B; Buysse K; Zahir F; Hellemans J; Hamilton SJ; Costa T; Fagerstrom C; Anadiotis G; Kingsbury D; McGillivray BC; Marra MA; Friedman JM; Speleman F; Mortier G
    J Med Genet; 2007 Apr; 44(4):264-8. PubMed ID: 17220210
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype.
    Kahila H; Marjonen H; Auvinen P; Avela K; Riikonen R; Kaminen-Ahola N
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1192. PubMed ID: 32096599
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
    Piccione M; Piro E; Serraino F; Cavani S; Ciccone R; Malacarne M; Pierluigi M; Vitaloni M; Zuffardi O; Corsello G
    Eur J Med Genet; 2012 Apr; 55(4):238-44. PubMed ID: 22406401
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects.
    Chen CP; Chern SR; Wu PS; Chen SW; Wu FT; Wang W
    Taiwan J Obstet Gynecol; 2021 Mar; 60(2):341-344. PubMed ID: 33678339
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
    Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
    J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A; Kramer N; Schwartz CE; Miles JH; DuPont BR; Rosenfeld JA; Graham JM
    Eur J Med Genet; 2014; 57(11-12):654-8. PubMed ID: 25230004
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?
    Mulatinho M; Llerena J; Leren TP; Rao PN; Quintero-Rivera F
    Am J Med Genet A; 2008 Sep; 146A(17):2284-90. PubMed ID: 18680192
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
    Der Kaloustian VM; Russell L; Aradhya S; Richard G; Rosenblatt B; Melançon S
    Am J Med Genet A; 2011 Oct; 155A(10):2538-42. PubMed ID: 22043489
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
    Tim-Aroon T; Jinawath N; Thammachote W; Sinpitak P; Limrungsikul A; Khongkhatithum C; Wattanasirichaigoon D
    Am J Med Genet A; 2017 Mar; 173(3):766-770. PubMed ID: 28211977
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.