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 *

358 related articles for article (PubMed ID: 22356326)

  • 1. Genomics, intellectual disability, and autism.
    Mefford HC; Batshaw ML; Hoffman EP
    N Engl J Med; 2012 Feb; 366(8):733-43. PubMed ID: 22356326
    [No Abstract]   [Full Text] [Related]  

  • 2. Genomics, intellectual disability, and autism.
    Deth RC
    N Engl J Med; 2012 Jun; 366(23):2231-2; author reply 2232. PubMed ID: 22670919
    [No Abstract]   [Full Text] [Related]  

  • 3. Realizing genomic medicine.
    Phimister EG; Feero WG; Guttmacher AE
    N Engl J Med; 2012 Feb; 366(8):757-9. PubMed ID: 22356329
    [No Abstract]   [Full Text] [Related]  

  • 4. Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.
    Piccione M; Antona V; Antona R; Gambino G; Pierluigi M; Malacarne M; Cavani S; Corsello G
    Am J Med Genet A; 2010 Feb; 152A(2):486-9. PubMed ID: 20101695
    [No Abstract]   [Full Text] [Related]  

  • 5. Special Report: Chromosomal Microarray for the Genetic Evaluation of Patients With Global Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder.
    Blue Cross Blue Shield Asssociation
    Technol Eval Cent Assess Program Exec Summ; 2015 Aug; 30(2):1-4. PubMed ID: 26376503
    [No Abstract]   [Full Text] [Related]  

  • 6. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genetic diagnostics in intellectual disability: what is the benefit?].
    Willemsen MH; Kleefstra T
    Ned Tijdschr Geneeskd; 2014; 158():A8098. PubMed ID: 25406822
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recent developments in the genetics of autism spectrum disorders.
    Murdoch JD; State MW
    Curr Opin Genet Dev; 2013 Jun; 23(3):310-5. PubMed ID: 23537858
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetic analysis of a patient with moderate hemophilia A and psychomotor developmental delay.
    Gothwal M; Nakamura L; Hainmann I; Koehler U; Schilling F; Rost S; Oldenburg J; Zieger B
    Klin Padiatr; 2013 May; 225(3):175-6. PubMed ID: 23709133
    [No Abstract]   [Full Text] [Related]  

  • 10. Chromosome microarray in Australia: a guide for paediatricians.
    Palmer EE; Peters GB; Mowat D
    J Paediatr Child Health; 2012 Feb; 48(2):E59-67. PubMed ID: 22320280
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
    Vallespín E; Palomares Bralo M; Mori MÁ; Martín R; García-Miñaúr S; Fernández L; de Torres ML; García-Santiago F; Mansilla E; Santos F; M-Montaño VE; Crespo MC; Martín S; Martínez-Glez V; Delicado A; Lapunzina P; Nevado J
    Am J Med Genet A; 2013 Aug; 161A(8):1950-60. PubMed ID: 23798500
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
    Berkel S; Marshall CR; Weiss B; Howe J; Roeth R; Moog U; Endris V; Roberts W; Szatmari P; Pinto D; Bonin M; Riess A; Engels H; Sprengel R; Scherer SW; Rappold GA
    Nat Genet; 2010 Jun; 42(6):489-91. PubMed ID: 20473310
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
    Takenouchi T; Miura K; Uehara T; Mizuno S; Kosaki K
    Am J Med Genet A; 2016 Oct; 170(10):2587-90. PubMed ID: 27256762
    [TBL] [Abstract][Full Text] [Related]  

  • 14. High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders.
    Pellanda G; Lava SA; Ferrarini A; Ramelli GP
    Eur J Paediatr Neurol; 2015 May; 19(3):386-7. PubMed ID: 25725507
    [No Abstract]   [Full Text] [Related]  

  • 15. Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.
    Martin CL; Ledbetter DH
    JAMA; 2017 Jun; 317(24):2545-2546. PubMed ID: 28654998
    [No Abstract]   [Full Text] [Related]  

  • 16. High-functioning autism spectrum disorder associated with CHARGE syndrome: a case report.
    Pisano S; Milone A; Gemo I; Masi G
    Clin Dysmorphol; 2014 Jan; 23(1):35-37. PubMed ID: 24172694
    [No Abstract]   [Full Text] [Related]  

  • 17. Deciphering Intellectual Disability.
    Gupta N
    Indian J Pediatr; 2023 Feb; 90(2):160-167. PubMed ID: 36441387
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
    Bruel AL; Vitobello A; Tran Mau-Them F; Nambot S; Sorlin A; Denommé-Pichon AS; Delanne J; Moutton S; Callier P; Duffourd Y; Philippe C; Faivre L; Thauvin-Robinet C
    Clin Genet; 2020 Nov; 98(5):433-444. PubMed ID: 32335911
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complex autism spectrum disorder in a patient with a 17q12 microduplication.
    Brandt T; Desai K; Grodberg D; Mehta L; Cohen N; Tryfon A; Kolevzon A; Soorya L; Buxbaum JD; Edelmann L
    Am J Med Genet A; 2012 May; 158A(5):1170-7. PubMed ID: 22488896
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.