BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 26109321)

  • 1. Familial 7q11.23 duplication with variable phenotype.
    Patil SJ; Salian S; Bhat V; Girisha KM; Shrivastava Y; Vs K; Sapare A
    Am J Med Genet A; 2015 Nov; 167A(11):2727-30. PubMed ID: 26109321
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Aortopathy in the 7q11.23 microduplication syndrome.
    Parrott A; James J; Goldenberg P; Hinton RB; Miller E; Shikany A; Aylsworth AS; Kaiser-Rogers K; Ferns SJ; Lalani SR; Ware SM
    Am J Med Genet A; 2015 Feb; 167A(2):363-70. PubMed ID: 25428557
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
    Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
    Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
    Mohan S; Nampoothiri S; Yesodharan D; Venkatesan V; Koshy T; Paul SF; Perumal V
    Lab Med; 2016 May; 47(2):171-5. PubMed ID: 27069036
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotype of 7q11.23 duplication: A family clinical series.
    Earhart BA; Williams ME; Zamora I; Randolph LM; Votava-Smith JK; Marcy SN
    Am J Med Genet A; 2017 Jan; 173(1):114-119. PubMed ID: 27615053
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
    Lühmann JL; Schmidt G; Auber B; Bergmann AK; Brandau O; Louis A; Hentze S; Eisfeld K; Schlegelberger B; Klaes R; Steinemann D
    Am J Med Genet A; 2023 Jul; 191(7):1849-1857. PubMed ID: 37081310
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
    Van der Aa N; Rooms L; Vandeweyer G; van den Ende J; Reyniers E; Fichera M; Romano C; Delle Chiaie B; Mortier G; Menten B; Destrée A; Maystadt I; Männik K; Kurg A; Reimand T; McMullan D; Oley C; Brueton L; Bongers EM; van Bon BW; Pfund R; Jacquemont S; Ferrarini A; Martinet D; Schrander-Stumpel C; Stegmann AP; Frints SG; de Vries BB; Ceulemans B; Kooy RF
    Eur J Med Genet; 2009; 52(2-3):94-100. PubMed ID: 19249392
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A
    Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An Update on Common Chromosome Microdeletion and Microduplication Syndromes.
    Goldenberg P
    Pediatr Ann; 2018 May; 47(5):e198-e203. PubMed ID: 29750287
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
    Pinelli M; Terrone G; Troglio F; Squeo GM; Cappuccio G; Imperati F; Pignataro P; Genesio R; Nitch L; Del Giudice E; Merla G; Testa G; Brunetti-Pierri N
    Clin Genet; 2020 Jun; 97(6):940-942. PubMed ID: 32349160
    [TBL] [Abstract][Full Text] [Related]  

  • 11. High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
    Cavallo F; Troglio F; Fagà G; Fancelli D; Shyti R; Trattaro S; Zanella M; D'Agostino G; Hughes JM; Cera MR; Pasi M; Gabriele M; Lazzarin M; Mihailovich M; Kooy F; Rosa A; Mercurio C; Varasi M; Testa G
    Mol Autism; 2020 Nov; 11(1):88. PubMed ID: 33208191
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
    Mulle JG; Pulver AE; McGrath JA; Wolyniec PS; Dodd AF; Cutler DJ; Sebat J; Malhotra D; Nestadt G; Conrad DF; Hurles M; Barnes CP; Ikeda M; Iwata N; Levinson DF; Gejman PV; Sanders AR; Duan J; Mitchell AA; Peter I; Sklar P; O'Dushlaine CT; Grozeva D; O'Donovan MC; Owen MJ; Hultman CM; Kähler AK; Sullivan PF; ; Kirov G; Warren ST
    Biol Psychiatry; 2014 Mar; 75(5):371-7. PubMed ID: 23871472
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autism, language delay and mental retardation in a patient with 7q11 duplication.
    Depienne C; Heron D; Betancur C; Benyahia B; Trouillard O; Bouteiller D; Verloes A; LeGuern E; Leboyer M; Brice A
    J Med Genet; 2007 Jul; 44(7):452-8. PubMed ID: 17400790
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A familial 7q36.3 duplication associated with agenesis of the corpus callosum.
    Wong K; Moldrich R; Hunter M; Edwards M; Finlay D; O'Donnell S; MacDougall T; Bain N; Kamien B
    Am J Med Genet A; 2015 Sep; 167A(9):2201-8. PubMed ID: 25944787
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.
    Castiglia L; Husain RA; Marquardt I; Fink C; Liehr T; Serino D; Elia M; Coci EG
    J Intellect Disabil Res; 2018 May; 62(5):359-370. PubMed ID: 29266505
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
    Berg JS; Brunetti-Pierri N; Peters SU; Kang SH; Fong CT; Salamone J; Freedenberg D; Hannig VL; Prock LA; Miller DT; Raffalli P; Harris DJ; Erickson RP; Cunniff C; Clark GD; Blazo MA; Peiffer DA; Gunderson KL; Sahoo T; Patel A; Lupski JR; Beaudet AL; Cheung SW
    Genet Med; 2007 Jul; 9(7):427-41. PubMed ID: 17666889
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
    Karavitakis E; Kitsiou-Tzeli S; Xaidara A; Kosma K; Makrythanasis P; Apazidou E; Kanavakis E; Tzetis M
    Am J Med Genet A; 2014 Mar; 164A(3):666-70. PubMed ID: 24375959
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
    Torniero C; Dalla Bernardina B; Novara F; Cerini R; Bonaglia C; Pramparo T; Ciccone R; Guerrini R; Zuffardi O
    Eur J Hum Genet; 2008 Aug; 16(8):880-7. PubMed ID: 18337728
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].
    Ruiz Botero F; Saldarriaga Gil W; Isaza de Lourido C
    Arch Argent Pediatr; 2016 Feb; 114(1):e1-4. PubMed ID: 26914082
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
    Shimojima K; Ondo Y; Matsufuji M; Sano N; Tsuru H; Oyoshi T; Higa N; Tokimura H; Arita K; Yamamoto T
    Eur J Med Genet; 2016 Nov; 59(11):559-563. PubMed ID: 27751966
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.