Baig SM - Search Results

1

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

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. Makhdoom EUH, et al. Among authors: baig sm. Genes (Basel). 2021 May 13;12(5):731. doi: 10.3390/genes12050731. Genes (Basel). 2021. PMID: 34068194 Free PMC article.

2

Prevention of beta-thalassemia in a large Pakistani family through cascade testing.

Baig SM, Din MA, Hassan H, Azhar A, Baig JM, Aslam M, Anjum I, Farooq M, Hussain MS, Rasool M, Nawaz S, Qureshi JA, Zaman T. Baig SM, et al. Among authors: baig jm. Community Genet. 2008;11(1):68-70. doi: 10.1159/000111641. Epub 2008 Jan 15. Community Genet. 2008. PMID: 18196920

3

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM. Rasool M, et al. Among authors: baig sm. J Hum Genet. 2008;53(10):894-898. doi: 10.1007/s10038-008-0323-x. Epub 2008 Aug 9. J Hum Genet. 2008. PMID: 18688569

4

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. Nawaz S, et al. Among authors: baig sm. Eur J Hum Genet. 2009 Dec;17(12):1600-5. doi: 10.1038/ejhg.2009.81. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471313 Free PMC article.

5

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.

Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Farooq M, et al. Among authors: baig sm. Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068592 Free PMC article.

6

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L. Anjum I, et al. Among authors: baig sm. Mol Vis. 2010 Mar 30;16:549-55. Mol Vis. 2010. PMID: 20361012 Free PMC article.

7

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. Nawaz S, et al. Among authors: baig sm. Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638. Eur J Dermatol. 2012. PMID: 22257947

8

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. Hussain MS, et al. Among authors: baig sm. Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521416 Free PMC article.

9

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.

Azhar A, Tariq M, Baig SM, Dahl N, Klar J. Azhar A, et al. Among authors: baig sm. Eur J Dermatol. 2012 Jul-Aug;22(4):464-6. doi: 10.1684/ejd.2012.1731. Eur J Dermatol. 2012. PMID: 22531990

10

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. Sajid Hussain M, et al. Among authors: baig sm. Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22775483

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