Tariq M - Search Results

1

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE. Ullah F, et al. Among authors: tariq m. Hum Genet. 2021 Dec;140(12):1733-1751. doi: 10.1007/s00439-021-02380-2. Epub 2021 Oct 13. Hum Genet. 2021. PMID: 34647195

2

A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

Hassan MJ, Chishti MS, Jamal SM, Tariq M, Ahmad W. Hassan MJ, et al. Among authors: tariq m. Hum Genet. 2008 Feb;123(1):77-82. doi: 10.1007/s00439-007-0452-x. Epub 2007 Dec 11. Hum Genet. 2008. PMID: 18071751

3

A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.

Tariq M, Chishti MS, Ali G, Ahmad W. Tariq M, et al. Ann Hum Genet. 2008 Jan;72(Pt 1):19-25. doi: 10.1111/j.1469-1809.2007.00391.x. Ann Hum Genet. 2008. PMID: 18184143

4

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. Azeem Z, et al. Among authors: tariq m. Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. Hum Genet. 2008. PMID: 18461368

5

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: tariq m. 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

6

Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.

Tariq M, Khan MN, Ahmad W. Tariq M, et al. Hum Genet. 2009 May;125(4):421-9. doi: 10.1007/s00439-009-0640-y. Epub 2009 Feb 17. Hum Genet. 2009. PMID: 19221800

7

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: tariq m. 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.

8

Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.

Khan S, Muzaffar S, Tariq M, Khan A, Basit S, Ahmad W. Khan S, et al. Among authors: tariq m. Br J Dermatol. 2010 Oct;163(4):711-8. doi: 10.1111/j.1365-2133.2010.09881.x. Epub 2010 Jul 26. Br J Dermatol. 2010. PMID: 20518786

9

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: tariq m. Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638. Eur J Dermatol. 2012. PMID: 22257947

10

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: tariq m. Eur J Dermatol. 2012 Jul-Aug;22(4):464-6. doi: 10.1684/ejd.2012.1731. Eur J Dermatol. 2012. PMID: 22531990

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