125 related articles for article (PubMed ID: 29375817)
1. Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.
Bhargav DS; Sreedevi N; Swapna N; Vivek S; Kovvali S
F1000Res; 2017; 6():2163. PubMed ID: 29375817
[TBL] [Abstract][Full Text] [Related]
2. A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report.
Bazgir A; Agha Gholizadeh M; Sarvar F; Pakzad Z
Iran J Public Health; 2019 Nov; 48(11):2074-2078. PubMed ID: 31970108
[TBL] [Abstract][Full Text] [Related]
3. Whole Exome Sequencing Identifies Three Novel Mutations in the
Naseer MI; Abdulkareem AA; Muthaffar OY; Sogaty S; Alkhatabi H; Almaghrabi S; Chaudhary AG
Front Pediatr; 2020; 8():627122. PubMed ID: 33643967
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Whole exome sequencing identifies a novel mutation in
Makhdoom EUH; Anwar H; Baig SM; Hussain G
Pak J Med Sci; 2022; 38(1):84-89. PubMed ID: 35035405
[TBL] [Abstract][Full Text] [Related]
8. Primary microcephaly caused by novel compound heterozygous mutations in
Okamoto N; Kohmoto T; Naruto T; Masuda K; Imoto I
Hum Genome Var; 2018; 5():18015. PubMed ID: 29644084
[TBL] [Abstract][Full Text] [Related]
9. Updates on Clinical and Genetic Heterogeneity of
Khan NM; Hussain B; Zheng C; Khan A; Masoud MS; Gu Q; Qiu L; Malik NA; Qasim M; Tariq M; Chang J
Front Pediatr; 2021; 9():695133. PubMed ID: 34295862
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
Cherkaoui Jaouad I; Zrhidri A; Jdioui W; Lyahyai J; Raymond L; Egéa G; Taoudi M; El Mouatassim S; Sefiani A
BMC Med Genet; 2018 Jul; 19(1):118. PubMed ID: 30021525
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
Naqvi SF; Shabbir RMK; Tolun A; Basit S; Malik S
Genet Test Mol Biomarkers; 2022 Jan; 26(1):37-42. PubMed ID: 35089071
[No Abstract] [Full Text] [Related]
14. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
Alrayes N; Mohamoud HS; Ahmed S; Almramhi MM; Shuaib TM; Wang J; Al-Aama JY; Everett K; Nasir J; Jelani M
J Neurol Sci; 2016 Apr; 363():240-4. PubMed ID: 27000257
[TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous ASPM mutations in Pakistani MCPH families.
Muhammad F; Mahmood Baig S; Hansen L; Sajid Hussain M; Anjum Inayat I; Aslam M; Anver Qureshi J; Toilat M; Kirst E; Wajid M; Nürnberg P; Eiberg H; Tommerup N; Kjaer KW
Am J Med Genet A; 2009 May; 149A(5):926-30. PubMed ID: 19353628
[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. 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]
18. 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]
19. 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]
20. Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in
Bolat H; Sağer SG; Türkyılmaz A; Çebi AH; Akın Y; Onay H; Özkınay F; Ünsel-Bolat G
Mol Syndromol; 2022 Dec; 13(5):363-369. PubMed ID: 36588751
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]