BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 25123844)

  • 1. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
    Mooneyham KA; Holden KR; Cathey S; Dwivedi A; Dupont BR; Lyons MJ
    Am J Med Genet A; 2014 Nov; 164A(11):2887-91. PubMed ID: 25123844
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.
    Shimojima K; Okamoto N; Goel H; Ondo Y; Yamamoto T
    Eur J Med Genet; 2017 Dec; 60(12):650-654. PubMed ID: 28899818
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
    Blazejewski SM; Bennison SA; Smith TH; Toyo-Oka K
    Front Genet; 2018; 9():80. PubMed ID: 29628935
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
    Wang D; Zeesman S; Tarnopolsky MA; Nowaczyk MJ
    Am J Med Genet A; 2013 Aug; 161A(8):2016-9. PubMed ID: 23794269
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
    Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
    Am J Med Genet A; 2014 Jun; 164A(6):1550-4. PubMed ID: 24668897
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
    Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P
    Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
    Coutton C; Devillard F; Vieville G; Amblard F; Lopez G; Jouk PS; Satre V
    Am J Med Genet A; 2012 Oct; 158A(10):2564-70. PubMed ID: 22903743
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.
    Papuc SM; Hackmann K; Andrieux J; Vincent-Delorme C; Budişteanu M; Arghir A; Schrock E; Ţuţulan-Cuniţă AC; Di Donato N
    Eur J Med Genet; 2015 May; 58(5):319-23. PubMed ID: 25858704
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.
    Caselli R; Ballarati L; Vignoli A; Peron A; Recalcati MP; Catusi I; Larizza L; Giardino D
    Eur J Med Genet; 2015 Nov; 58(11):578-83. PubMed ID: 26297194
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
    Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
    J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
    Schönewolf-Greulich B; Ravn K; Hamborg-Petersen B; Brøndum-Nielsen K; Tümer Z
    Am J Med Genet A; 2013 Sep; 161A(9):2358-62. PubMed ID: 23894085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
    Blassnig-Ezeh A; Bandelier C; Frühmesser A; Revencu N; Krabichler B; Beauloye V; Ravoet M; Fauth C; Zschocke J; Simma B; Kotzot D
    Am J Med Genet A; 2013 Dec; 161A(12):3176-81. PubMed ID: 24115558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
    Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
    Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
    Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
    J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
    Nevado J; Rosenfeld JA; Mena R; Palomares-Bralo M; Vallespín E; Ángeles Mori M; Tenorio JA; Gripp KW; Denenberg E; Del Campo M; Plaja A; Martín-Arenas R; Santos-Simarro F; Armengol L; Gowans G; Orera M; Sanchez-Hombre MC; Corbacho-Fernández E; Fernández-Jaén A; Haldeman-Englert C; Saitta S; Dubbs H; Bénédicte DB; Li X; Devaney L; Dinulos MB; Vallee S; Crespo MC; Fernández B; Fernández-Montaño VE; Rueda-Arenas I; de Torres ML; Ellison JW; Raskin S; Venegas-Vega CA; Fernández-Ramírez F; Delicado A; García-Miñaúr S; Lapunzina P
    Eur J Hum Genet; 2015 Dec; 23(12):1615-26. PubMed ID: 25853300
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
    Vittas S; Bisba M; Christopoulou G; Apostolakopoulou L; Pons R; Constantoulakis P
    Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510238
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
    Polan MB; Pastore MT; Steingass K; Hashimoto S; Thrush DL; Pyatt R; Reshmi S; Gastier-Foster JM; Astbury C; McBride KL
    Eur J Hum Genet; 2014 Jan; 22(1):105-9. PubMed ID: 23695283
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
    Lebedev IN; Nazarenko LP; Skryabin NA; Babushkina NP; Kashevarova AA
    Am J Med Genet A; 2016 Aug; 170(8):2089-96. PubMed ID: 27288323
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
    Roos L; Jønch AE; Kjaergaard S; Taudorf K; Simonsen H; Hamborg-Petersen B; Brøndum-Nielsen K; Kirchhoff M
    J Med Genet; 2009 Oct; 46(10):703-10. PubMed ID: 19520700
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
    Drabova J; Seemanova E; Hancarova M; Pourova R; Horacek M; Jancuskova T; Pekova S; Novotna D; Sedlacek Z
    Am J Med Genet A; 2015 Apr; 167A(4):837-41. PubMed ID: 25735987
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.