224 related articles for article (PubMed ID: 35281599)
1. 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]
2. 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]
3. Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M; Marriam Bakhtiar S; Farooq M; Anjum I; Janzen E; Reza Toliat M; Eiberg H; Kjaer KW; Tommerup N; Noegel AA; Nürnberg P; Baig SM; Hansen L
Clin Genet; 2013 May; 83(5):446-51. PubMed ID: 22775483
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I; Baig SM; Abdulkareem AR; Hussain MS; Sur I; Toliat MR; Nürnberg G; Dalibor N; Moawia A; Waseem SS; Asif M; Nagra H; Sher M; Khan MMA; Hassan I; Rehman SU; Thiele H; Altmüller J; Noegel AA; Nürnberg P
Clin Genet; 2017 Jul; 92(1):62-68. PubMed ID: 28004384
[TBL] [Abstract][Full Text] [Related]
7. Modifier Genes in Microcephaly: A Report on
Makhdoom EUH; Waseem SS; Iqbal M; Abdullah U; Hussain G; Asif M; Budde B; Höhne W; Tinschert S; Saadi SM; Yousaf H; Ali Z; Fatima A; Kaygusuz E; Khan A; Jameel M; Khan S; Tariq M; Anjum I; Altmüller J; Thiele H; Höning S; Baig SM; Nürnberg P; Hussain MS
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34068194
[TBL] [Abstract][Full Text] [Related]
8. A Homozygous
Waseem SS; Moawia A; Budde B; Tariq M; Khan A; Ali Z; Khan S; Iqbal M; Malik NA; Haque SU; Altmüller J; Thiele H; Hussain MS; Cirak S; Baig SM; Nürnberg P
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680889
[TBL] [Abstract][Full Text] [Related]
9. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
Kumar A; Girimaji SC; Duvvari MR; Blanton SH
Am J Hum Genet; 2009 Feb; 84(2):286-90. PubMed ID: 19215732
[TBL] [Abstract][Full Text] [Related]
10. A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
Gul A; Hassan MJ; Hussain S; Raza SI; Chishti MS; Ahmad W
J Hum Genet; 2006; 51(9):760-764. PubMed ID: 16900296
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Darvish H; Esmaeeli-Nieh S; Monajemi GB; Mohseni M; Ghasemi-Firouzabadi S; Abedini SS; Bahman I; Jamali P; Azimi S; Mojahedi F; Dehghan A; Shafeghati Y; Jankhah A; Falah M; Soltani Banavandi MJ; Ghani M; Garshasbi M; Rakhshani F; Naghavi A; Tzschach A; Neitzel H; Ropers HH; Kuss AW; Behjati F; Kahrizi K; Najmabadi H
J Med Genet; 2010 Dec; 47(12):823-8. PubMed ID: 20978018
[TBL] [Abstract][Full Text] [Related]
13. Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N; Picker-Minh S; Abbasi AA; Fröhler S; Ninnemann O; Khan MN; Ali G; Chen W; Kaindl AM
Clin Genet; 2016 Jun; 89(6):744-5. PubMed ID: 26548919
[No Abstract] [Full Text] [Related]
14. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
Woods CG; Bond J; Enard W
Am J Hum Genet; 2005 May; 76(5):717-28. PubMed ID: 15806441
[TBL] [Abstract][Full Text] [Related]
15. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Tan CA; Topper S; Ward Melver C; Stein J; Reeder A; Arndt K; Das S
Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037
[TBL] [Abstract][Full Text] [Related]
16. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
Hassan MJ; Khurshid M; Azeem Z; John P; Ali G; Chishti MS; Ahmad W
BMC Med Genet; 2007 Sep; 8():58. PubMed ID: 17764569
[TBL] [Abstract][Full Text] [Related]
17. Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW; Chavan V; Elias AF; Hudson C; Schwanke C; Styren K; Shoof J; Kok F; Srivastava S; Mukherjee K
Hum Genet; 2018 Mar; 137(3):231-246. PubMed ID: 29426960
[TBL] [Abstract][Full Text] [Related]
18. What primary microcephaly can tell us about brain growth.
Cox J; Jackson AP; Bond J; Woods CG
Trends Mol Med; 2006 Aug; 12(8):358-66. PubMed ID: 16829198
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
