Umair M - Search Results

1

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Umair M, Wasif N, Albalawi AM, Ramzan K, Alfadhel M, Ahmad W, Basit S. Umair M, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00627. doi: 10.1002/mgg3.627. Epub 2019 May 21. Mol Genet Genomic Med. 2019. PMID: 31115189 Free PMC article.

2

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.

Irfanullah, Umair M, Khan S, Ahmad W. Irfanullah, et al. Among authors: umair m. Ann Hum Genet. 2015 Jul;79(4):238-44. doi: 10.1111/ahg.12116. Epub 2015 May 11. Ann Hum Genet. 2015. PMID: 25959430

3

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Umair M, Hassan A, Jan A, Ahmad F, Imran M, Samman MI, Basit S, Ahmad W. Umair M, et al. J Hum Genet. 2016 Mar;61(3):207-13. doi: 10.1038/jhg.2015.129. Epub 2015 Nov 5. J Hum Genet. 2016. PMID: 26538303

4

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Ullah A, Kalsoom UE, Umair M, John P, Ansar M, Basit S, Ahmad W. Ullah A, et al. Among authors: umair m. Clin Genet. 2017 Mar;91(3):494-498. doi: 10.1111/cge.12822. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27324866

5

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Ahmad F, Ali RH, Muhammad D, Nasir A, Umair M, Wakil SM, Ramzan K, Basit S, Ahmad W. Ahmad F, et al. Among authors: umair m. Eur J Dermatol. 2016 Dec 1;26(6):610-612. doi: 10.1684/ejd.2016.2848. Eur J Dermatol. 2016. PMID: 27456782 No abstract available.

6

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Umair M, Rafique A, Ullah A, Ahmad F, Ali RH, Nasir A, Ansar M, Ahmad W. Umair M, et al. Congenit Anom (Kyoto). 2017 Mar;57(2):45-51. doi: 10.1111/cga.12187. Congenit Anom (Kyoto). 2017. PMID: 27577507

7

Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.

Shah K, Ferrara TM, Jan A, Umair M, Irfanullah, Khan S, Ahmad W, Spritz RA. Shah K, et al. Among authors: umair m. Br J Dermatol. 2017 Aug;177(2):546-548. doi: 10.1111/bjd.15094. Epub 2017 Jun 22. Br J Dermatol. 2017. PMID: 27681482 No abstract available.

8

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Ullah A, Umair M, Ahmad F, Muhammad D, Basit S, Ahmad W. Ullah A, et al. Among authors: umair m. Ophthalmic Genet. 2017 Jul-Aug;38(4):335-339. doi: 10.1080/13816810.2016.1227456. Epub 2017 Jan 13. Ophthalmic Genet. 2017. PMID: 28085523

9

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.

Ahmad F, Sharif S, Furqan Ubaid M, Shah K, Khan MN, Umair M, Azeem Z, Ahmad W. Ahmad F, et al. Among authors: umair m. Congenit Anom (Kyoto). 2018 Jan;58(1):24-28. doi: 10.1111/cga.12226. Epub 2017 Jun 12. Congenit Anom (Kyoto). 2018. PMID: 28425126

10

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Eur J Hum Genet. 2017 Aug;25(8):960-965. doi: 10.1038/ejhg.2017.83. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488682 Free PMC article.

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