369 related articles for article (PubMed ID: 37599996)
21. 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]
22. Longitudinal Diffusion Tensor Imaging Revealed Nerve Fiber Alterations in Aspm Mutated Microcephaly Model Mice.
Ogi H; Nitta N; Tando S; Fujimori A; Aoki I; Fushiki S; Itoh K
Neuroscience; 2018 Feb; 371():325-336. PubMed ID: 29253521
[TBL] [Abstract][Full Text] [Related]
23. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
Kouprina N; Pavlicek A; Collins NK; Nakano M; Noskov VN; Ohzeki J; Mochida GH; Risinger JI; Goldsmith P; Gunsior M; Solomon G; Gersch W; Kim JH; Barrett JC; Walsh CA; Jurka J; Masumoto H; Larionov V
Hum Mol Genet; 2005 Aug; 14(15):2155-65. PubMed ID: 15972725
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S; Baig JM; Moawia A; Ahmad I; Iqbal M; Waseem SS; Asif M; Abdullah U; Makhdoom EUH; Kaygusuz E; Zakaria M; Ramzan S; Haque SU; Mir A; Anjum I; Fiaz M; Ali Z; Tariq M; Saba N; Hussain W; Budde B; Irshad S; Noegel AA; Höning S; Baig SM; Nürnberg P; Hussain MS
Mol Genet Genomic Med; 2020 Sep; 8(9):e1408. PubMed ID: 32677750
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Abnormal spindle-like microcephaly-associated (ASPM) gene expression in posterior fossa brain tumors of childhood and adolescence.
Cabral de Carvalho Corrêa D; Dias Oliveira I; Mascaro Cordeiro B; Silva FA; de Seixas Alves MT; Saba-Silva N; Capellano AM; Dastoli P; Cavalheiro S; Caminada de Toledo SR
Childs Nerv Syst; 2021 Jan; 37(1):137-145. PubMed ID: 32591873
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. ASPM regulates Wnt signaling pathway activity in the developing brain.
Buchman JJ; Durak O; Tsai LH
Genes Dev; 2011 Sep; 25(18):1909-14. PubMed ID: 21937711
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.
Johnson MB; Sun X; Kodani A; Borges-Monroy R; Girskis KM; Ryu SC; Wang PP; Patel K; Gonzalez DM; Woo YM; Yan Z; Liang B; Smith RS; Chatterjee M; Coman D; Papademetris X; Staib LH; Hyder F; Mandeville JB; Grant PE; Im K; Kwak H; Engelhardt JF; Walsh CA; Bae BI
Nature; 2018 Apr; 556(7701):370-375. PubMed ID: 29643508
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.
Pulvers JN; Bryk J; Fish JL; Wilsch-Bräuninger M; Arai Y; Schreier D; Naumann R; Helppi J; Habermann B; Vogt J; Nitsch R; Tóth A; Enard W; Pääbo S; Huttner WB
Proc Natl Acad Sci U S A; 2010 Sep; 107(38):16595-600. PubMed ID: 20823249
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Hussain S; Nawaz A; Hamid M; Ullah W; Khan IN; Afshan M; Rehman A; Nawaz H; Halswick J; Rehman SU; Ahmad S; Muzammal M; Muhammad N; Jan A; Khan S; Windpassinger C; Khan MA
Biotechnol Appl Biochem; 2022 Dec; 69(6):2296-2303. PubMed ID: 34826358
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Loss of abnormal spindle-like, microcephaly-associated (Aspm) disrupts female folliculogenesis in mice during maturation and aging.
Mori M; Tando S; Ogi H; Tonosaki M; Yaoi T; Fujimori A; Itoh K
Reprod Biol; 2022 Sep; 22(3):100673. PubMed ID: 35901620
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
