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 *

148 related articles for article (PubMed ID: 34378666)

  • 21. The molecular landscape of ASPM mutations in primary microcephaly.
    Nicholas AK; Swanson EA; Cox JJ; Karbani G; Malik S; Springell K; Hampshire D; Ahmed M; Bond J; Di Benedetto D; Fichera M; Romano C; Dobyns WB; Woods CG
    J Med Genet; 2009 Apr; 46(4):249-53. PubMed ID: 19028728
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.
    Akbariazar E; Ebrahimpour M; Akbari S; Arzhanghi S; Abedini SS; Najmabadi H; Kahrizi K
    Iran J Child Neurol; 2013; 7(2):23-30. PubMed ID: 24665293
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Autosomal recessive primary microcephaly due to ASPM mutations: An update.
    Létard P; Drunat S; Vial Y; Duerinckx S; Ernault A; Amram D; Arpin S; Bertoli M; Busa T; Ceulemans B; Desir J; Doco-Fenzy M; Elalaoui SC; Devriendt K; Faivre L; Francannet C; Geneviève D; Gérard M; Gitiaux C; Julia S; Lebon S; Lubala T; Mathieu-Dramard M; Maurey H; Metreau J; Nasserereddine S; Nizon M; Pierquin G; Pouvreau N; Rivier-Ringenbach C; Rossi M; Schaefer E; Sefiani A; Sigaudy S; Sznajer Y; Tunca Y; Guilmin Crepon S; Alberti C; Elmaleh-Bergès M; Benzacken B; Wollnick B; Woods CG; Rauch A; Abramowicz M; El Ghouzzi V; Gressens P; Verloes A; Passemard S
    Hum Mutat; 2018 Mar; 39(3):319-332. PubMed ID: 29243349
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
    Abdel-Hamid MS; Ismail MF; Darwish HA; Effat LK; Zaki MS; Abdel-Salam GM
    Am J Med Genet A; 2016 Aug; 170(8):2133-40. PubMed ID: 27250695
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
    Gul A; Hassan MJ; Mahmood S; Chen W; Rahmani S; Naseer MI; Dellefave L; Muhammad N; Rafiq MA; Ansar M; Chishti MS; Ali G; Siddique T; Ahmad W
    Neurogenetics; 2006 May; 7(2):105-10. PubMed ID: 16673149
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].
    Wang J; Wang X; Zhang L; Huang Y; Sha R; An J; Wu Y; Guo Z; Jia Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1243-1248. PubMed ID: 39344621
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
    Ahmed J; Windpassinger C; Salim M; Wiener M; Petek E; Schaflinger E; Taj S; Hussain S; Abbas S; Abbas M; Younis I; Muhammad N; Khan S; Khan MA
    J Pak Med Assoc; 2019 Dec; 69(12):1812-1816. PubMed ID: 31853109
    [TBL] [Abstract][Full Text] [Related]  

  • 30. ASPM mutations identified in patients with primary microcephaly and seizures.
    Shen J; Eyaid W; Mochida GH; Al-Moayyad F; Bodell A; Woods CG; Walsh CA
    J Med Genet; 2005 Sep; 42(9):725-9. PubMed ID: 16141009
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the
    Türkyılmaz A; Sager SG
    Mol Syndromol; 2022 Feb; 13(1):56-63. PubMed ID: 35221876
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
    Memon MM; Raza SI; Basit S; Kousar R; Ahmad W; Ansar M
    Mol Biol Rep; 2013 Jan; 40(1):591-5. PubMed ID: 23065275
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes
    Khan NM; Masoud MS; Baig SM; Qasim M; Chang J
    Biomed Res Int; 2022; 2022():3769948. PubMed ID: 35281599
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
    Mahmood S; Ahmad W; Hassan MJ
    Orphanet J Rare Dis; 2011 Jun; 6():39. PubMed ID: 21668957
    [TBL] [Abstract][Full Text] [Related]  

  • 37. WDR62 missense mutation in a consanguineous family with primary microcephaly.
    Bacino CA; Arriola LA; Wiszniewska J; Bonnen PE
    Am J Med Genet A; 2012 Mar; 158A(3):622-5. PubMed ID: 22308068
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel and recurrent ASPM mutations of founder effect in Chinese population.
    Li M; Luo J; Yang Q; Chen F; Chen J; Qin J; He W; Chen J; Yi S; Qin Z; Yi S; Huang L; Qiu X; Pan P; Luo J; Shen Y
    Brain Dev; 2022 Sep; 44(8):540-545. PubMed ID: 35491272
    [TBL] [Abstract][Full Text] [Related]  

  • 39. CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.
    Abdel-Hamid MS; Ismail MF; Darwish HA; Effat LK; Zaki MS; Abdel-Salam GM
    Genet Couns; 2016; 27(1):25-33. PubMed ID: 27192889
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.