214 related articles for article (PubMed ID: 18452193)
1. 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]
2. 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]
3. 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]
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. 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]
6. Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
Cabet S; Putoux A; Lesca G; Lesage A; Massoud M; Guibaud L;
Ultrasound Obstet Gynecol; 2024 Feb; 63(2):271-275. PubMed ID: 37551048
[TBL] [Abstract][Full Text] [Related]
7. Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
Gul A; Tariq M; Khan MN; Hassan MJ; Ali G; Ahmad W
J Neurogenet; 2007; 21(3):153-63. PubMed ID: 17849285
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. ASPM is a major determinant of cerebral cortical size.
Bond J; Roberts E; Mochida GH; Hampshire DJ; Scott S; Askham JM; Springell K; Mahadevan M; Crow YJ; Markham AF; Walsh CA; Woods CG
Nat Genet; 2002 Oct; 32(2):316-20. PubMed ID: 12355089
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
Wang R; Khan A; Han S; Zhang X
J Hum Genet; 2017 Feb; 62(2):299-304. PubMed ID: 27784895
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
Kousar R; Nawaz H; Khurshid M; Ali G; Khan SU; Mir H; Ayub M; Wali A; Ali N; Jelani M; Basit S; Ahmad W; Ansar M
J Child Neurol; 2010 Jun; 25(6):715-20. PubMed ID: 19808985
[TBL] [Abstract][Full Text] [Related]
15. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.
Issa L; Mueller K; Seufert K; Kraemer N; Rosenkotter H; Ninnemann O; Buob M; Kaindl AM; Morris-Rosendahl DJ
Orphanet J Rare Dis; 2013 Apr; 8():59. PubMed ID: 23587236
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Tan CA; del Gaudio D; Dempsey MA; Arndt K; Botes S; Reeder A; Das S
Clin Genet; 2014 Apr; 85(4):353-8. PubMed ID: 23611254
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
Batool T; Irshad S; Mahmood K
Braz J Biol; 2021; 83():e246040. PubMed ID: 34378666
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
