These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

458 related articles for article (PubMed ID: 24911659)

  • 1. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
    Fannemel M; Barøy T; Holmgren A; Rødningen OK; Haugsand TM; Hansen B; Frengen E; Misceo D
    Eur J Med Genet; 2014 Sep; 57(9):513-9. PubMed ID: 24911659
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
    Bagheri H; Badduke C; Qiao Y; Colnaghi R; Abramowicz I; Alcantara D; Dunham C; Wen J; Wildin RS; Nowaczyk MJ; Eichmeyer J; Lehman A; Maranda B; Martell S; Shan X; Lewis SM; O'Driscoll M; Gregory-Evans CY; Rajcan-Separovic E
    JCI Insight; 2016 Mar; 1(3):e85461. PubMed ID: 27699255
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
    Barøy T; Misceo D; Strømme P; Stray-Pedersen A; Holmgren A; Rødningen OK; Blomhoff A; Helle JR; Stormyr A; Tvedt B; Fannemel M; Frengen E
    Orphanet J Rare Dis; 2013 Jan; 8():3. PubMed ID: 23294540
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rare Case of
    Ręka G; Wojciechowska K; Lejman M
    Appl Clin Genet; 2024; 17():117-124. PubMed ID: 39050773
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.
    Liu X; Malenfant P; Reesor C; Lee A; Hudson ML; Harvard C; Qiao Y; Persico AM; Cohen IL; Chudley AE; Forster-Gibson C; Rajcan-Separovic E; Lewis ME; Holden JJ
    Eur J Hum Genet; 2011 Dec; 19(12):1264-70. PubMed ID: 21750575
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
    Cafiero C; Marangi G; Orteschi D; Ali M; Asaro A; Ponzi E; Moncada A; Ricciardi S; Murdolo M; Mancano G; Contaldo I; Leuzzi V; Battaglia D; Mercuri E; Slavotinek AM; Zollino M
    Eur J Hum Genet; 2015 Nov; 23(11):1499-504. PubMed ID: 25712080
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O
    Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
    Dubruc E; Putoux A; Labalme A; Rougeot C; Sanlaville D; Edery P
    Am J Med Genet A; 2014 Jun; 164A(6):1571-5. PubMed ID: 24668549
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.
    Shimojima K; Okamoto N; Yamamoto T
    Congenit Anom (Kyoto); 2015 Aug; 55(3):125-32. PubMed ID: 25900130
    [TBL] [Abstract][Full Text] [Related]  

  • 14. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M; Hernández-Charro B; Bengoa-Alonso A; Pérez-Juana-del-Casal A; Romero-Ibarra C; Nieva-Echebarria B; Ramos-Arroyo MA
    BMC Med Genet; 2015 Aug; 16():68. PubMed ID: 26293599
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z
    Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.
    Boyle MI; Jespersgaard C; Nazaryan L; Ravn K; Brøndum-Nielsen K; Bisgaard AM; Tümer Z
    Gene; 2015 Nov; 572(1):130-134. PubMed ID: 26164757
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
    Hamanaka K; Sugawara Y; Shimoji T; Nordtveit TI; Kato M; Nakashima M; Saitsu H; Suzuki T; Yamakawa K; Aukrust I; Houge G; Mitsuhashi S; Takata A; Iwama K; Alkanaq A; Fujita A; Imagawa E; Mizuguchi T; Miyake N; Miyatake S; Matsumoto N
    Eur J Hum Genet; 2019 Mar; 27(3):378-383. PubMed ID: 30487643
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
    Pons L; Cordier MP; Labalme A; Till M; Louvrier C; Schluth-Bolard C; Lesca G; Edery P; Sanlaville D
    Am J Med Genet A; 2015 Jan; 167A(1):164-8. PubMed ID: 25425123
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
    Tsoutsou E; Tzetis M; Giannikou K; Syrmou A; Oikonomakis V; Kosma K; Kanioura A; Kanavakis E; Fryssira H
    Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.