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 *

107 related articles for article (PubMed ID: 22823409)

  • 1. Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
    Ariani F; Mari F; Amitrano S; Di Marco C; Artuso R; Scala E; Meloni I; Della Volpe R; Rossi A; van Bokhoven H; Renieri A
    Clin Genet; 2013 Mar; 83(3):288-90. PubMed ID: 22823409
    [No Abstract]   [Full Text] [Related]  

  • 2. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
    Rump P; Jazayeri O; van Dijk-Bos KK; Johansson LF; van Essen AJ; Verheij JB; Veenstra-Knol HE; Redeker EJ; Mannens MM; Swertz MA; Alizadeh BZ; van Ravenswaaij-Arts CM; Sinke RJ; Sikkema-Raddatz B
    BMC Med Genomics; 2016 Feb; 9():7. PubMed ID: 26846091
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Protein-truncating mutations in ASPM cause variable reduction in brain size.
    Bond J; Scott S; Hampshire DJ; Springell K; Corry P; Abramowicz MJ; Mochida GH; Hennekam RC; Maher ER; Fryns JP; Alswaid A; Jafri H; Rashid Y; Mubaidin A; Walsh CA; Roberts E; Woods CG
    Am J Hum Genet; 2003 Nov; 73(5):1170-7. PubMed ID: 14574646
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
    Khan A; Wang R; Han S; Ahmad W; Zhang X
    Genet Test Mol Biomarkers; 2018 Mar; 22(3):159-164. PubMed ID: 29431480
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
    Hashmi JA; Al-Harbi KM; Ramzan K; Albalawi AM; Mehmood A; Samman MI; Basit S
    Ann Saudi Med; 2016; 36(6):391-396. PubMed ID: 27920410
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Abnormal spindle-like microcephaly gene detection in an autosomal recessive microcephalic Saudi patient with attention deficit hyperactivity disorder and mental retardation.
    Mahmoud AA; Siddiqui IA
    Neurosciences (Riyadh); 2013 Jul; 18(3):278-80. PubMed ID: 23887221
    [No Abstract]   [Full Text] [Related]  

  • 8. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
    Naseer MI; Rasool M; Sogaty S; Chaudhary RA; Mansour HM; Chaudhary AG; Abuzenadah AM; Al-Qahtani MH
    Ann Saudi Med; 2017; 37(2):148-153. PubMed ID: 28377545
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E; Brussino A; Biamino E; Belligni EF; Bruselles A; Ciolfi A; Caputo V; Pizzi S; Calcia A; Di Gregorio E; Cavalieri S; Mancini C; Pozzi E; Ferrero M; Riberi E; Borelli I; Amoroso A; Ferrero GB; Tartaglia M; Brusco A
    Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
    Bissar-Tadmouri N; Donahue WL; Al-Gazali L; Nelson SF; Bayrak-Toydemir P; Kantarci S
    Am J Med Genet A; 2014 Jan; 164A(1):164-9. PubMed ID: 24501762
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
    Scott AF; Mohr DW; Kasch LM; Barton JA; Pittiglio R; Ingersoll R; Craig B; Marosy BA; Doheny KF; Bromley WC; Roderick TH; Chassaing N; Calvas P; Prabhu SS; Jabs EW
    JAMA Ophthalmol; 2014 Oct; 132(10):1215-20. PubMed ID: 24993872
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
    Khan MA; Windpassinger C; Ali MZ; Zubair M; Gul H; Abbas S; Khan S; Badar M; Mohammad RM; Nawaz Z
    J Genet; 2017 Jun; 96(2):383-387. PubMed ID: 28674240
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.
    Desir J; Cassart M; David P; Van Bogaert P; Abramowicz M
    Am J Med Genet A; 2008 Jun; 146A(11):1439-43. PubMed ID: 18452193
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
    Hussain MS; Baig SM; Neumann S; Nürnberg G; Farooq M; Ahmad I; Alef T; Hennies HC; Technau M; Altmüller J; Frommolt P; Thiele H; Noegel AA; Nürnberg P
    Am J Hum Genet; 2012 May; 90(5):871-8. PubMed ID: 22521416
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
    Saadi A; Borck G; Boddaert N; Chekkour MC; Imessaoudene B; Munnich A; Colleaux L; Chaouch M
    Eur J Med Genet; 2009; 52(4):180-4. PubMed ID: 19332161
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
    Passemard S; Titomanlio L; Elmaleh M; Afenjar A; Alessandri JL; Andria G; de Villemeur TB; Boespflug-Tanguy O; Burglen L; Del Giudice E; Guimiot F; Hyon C; Isidor B; Mégarbané A; Moog U; Odent S; Hernandez K; Pouvreau N; Scala I; Schaer M; Gressens P; Gerard B; Verloes A
    Neurology; 2009 Sep; 73(12):962-9. PubMed ID: 19770472
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
    Gund C; Powis Z; Alcaraz W; Desai S; Baranano K
    Am J Med Genet A; 2016 May; 170A(5):1330-2. PubMed ID: 26834045
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
    Faqeih EA; Al-Owain M; Colak D; Kenana R; Al-Yafee Y; Al-Dosary M; Al-Saman A; Albalawi F; Al-Sarar D; Domiaty D; Daghestani M; Kaya N
    Am J Med Genet A; 2014 Jun; 164A(6):1565-70. PubMed ID: 24668509
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
    Tanaka AJ; Cho MT; Millan F; Juusola J; Retterer K; Joshi C; Niyazov D; Garnica A; Gratz E; Deardorff M; Wilkins A; Ortiz-Gonzalez X; Mathews K; Panzer K; Brilstra E; van Gassen KL; Volker-Touw CM; van Binsbergen E; Sobreira N; Hamosh A; McKnight D; Monaghan KG; Chung WK
    Am J Hum Genet; 2015 Sep; 97(3):457-64. PubMed ID: 26299366
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.
    Tran TH; Diep QM; Cao MH; Luong LH; Pham VA; Lan Dinh OT; Bui TH; Van Ta T; Tran VK
    Taiwan J Obstet Gynecol; 2021 Sep; 60(5):907-910. PubMed ID: 34507672
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.