BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 17352388)

  • 1. Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.
    Mencarelli MA; Caselli R; Pescucci C; Hayek G; Zappella M; Renieri A; Mari F
    Am J Med Genet A; 2007 Apr; 143A(8):858-65. PubMed ID: 17352388
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 2q24-q31 deletion: report of a case and review of the literature.
    Pescucci C; Caselli R; Grosso S; Mencarelli MA; Mari F; Farnetani MA; Piccini B; Artuso R; Bruttini M; Priolo M; Zuffardi O; Gimelli S; Balestri P; Renieri A
    Eur J Med Genet; 2007; 50(1):21-32. PubMed ID: 17088112
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 2q31.2q32.3 deletion syndrome: report of an adult patient.
    Prontera P; Bernardini L; Stangoni G; Capalbo A; Rogaia D; Ardisia C; Novelli A; Dallapiccola B; Donti E
    Am J Med Genet A; 2009 Feb; 149A(4):706-12. PubMed ID: 19248183
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
    Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
    J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
    Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets D; Salden I; Matthijs G; Fryns JP; Vermeesch JR
    Eur J Med Genet; 2005; 48(3):276-89. PubMed ID: 16179223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.
    Cocchella A; Malacarne M; Forzano F; Marciano C; Pierluigi M; Perroni L; Faravelli F; Di Maria E
    Am J Med Genet B Neuropsychiatr Genet; 2010 Oct; 153B(7):1342-6. PubMed ID: 20552675
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
    Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Array CGH defined interstitial deletion on chromosome 14: a new case.
    Piccione M; Antona V; Scavone V; Malacarne M; Pierluigi M; Grasso M; Corsello G
    Eur J Pediatr; 2010 Jul; 169(7):845-51. PubMed ID: 20087602
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
    Svensson AM; Curry CJ; South ST; Whitby H; Maxwell TM; Aston E; Fisher J; Carmack CE; Scheffer A; Abu-Shamsieh A; Brothman AR
    Am J Med Genet A; 2007 Jun; 143A(12):1348-53. PubMed ID: 17506097
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.
    Rifai L; Port-Lis M; Tabet AC; Bailleul-Forestier I; Benzacken B; Drunat S; Kuzbari S; Passemard S; Verloes A; Aboura A
    Am J Med Genet A; 2010 Jan; 152A(1):111-7. PubMed ID: 20034071
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
    Martinet D; Filges I; Besuchet Schmutz N; Morris MA; Gaide AC; Dahoun S; Bottani A; Addor MC; Antonarakis SE; Beckmann JS; Béna F
    Am J Med Genet A; 2008 Aug; 146A(16):2094-102. PubMed ID: 18629875
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
    Grigori P; Panayiotou E; Sismani C; Koumbaris G; Ioannides M; Costalos C; Kosmaidou-Aravidou Z; Kousoulidou L; Patsalis PC
    Eur J Med Genet; 2011; 54(3):365-8. PubMed ID: 21354346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
    Tomaszewska A; Podbiol-Palenta A; Boter M; Geisler G; Wawrzkiewicz-Witkowska A; Galjaard RJ; Zajączek S; Srebniak MI
    Am J Med Genet A; 2013 Sep; 161A(9):2347-51. PubMed ID: 23918240
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
    Torgyekes E; Shanske AL; Anyane-Yeboa K; Nahum O; Pirzadeh S; Blumfield E; Jobanputra V; Warburton D; Levy B
    Am J Med Genet A; 2011 Aug; 155A(8):1884-96. PubMed ID: 21744488
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES.
    Cetin Z; Altiok-Clark O; Yakut S; Guzel-Nur B; Mihci E; Berker-Karauzum S
    Genet Couns; 2016; 27(1):51-66. PubMed ID: 27192892
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
    Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
    Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
    Cuscó I; del Campo M; Vilardell M; González E; Gener B; Galán E; Toledo L; Pérez-Jurado LA
    BMC Med Genet; 2008 Apr; 9():27. PubMed ID: 18405349
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
    Mitter D; Chiaie BD; Lüdecke HJ; Gillessen-Kaesbach G; Bohring A; Kohlhase J; Caliebe A; Siebert R; Roepke A; Ramos-Arroyo MA; Nieva B; Menten B; Loeys B; Mortier G; Wieczorek D
    Am J Med Genet A; 2010 May; 152A(5):1213-24. PubMed ID: 20425826
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.