Ahmad F - Search Results

1

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.

Khan A, Miao Z, Umair M, Ullah A, Alshabeeb MA, Bilal M, Ahmad F, Rappold GA, Ansar M, Carapito R. Khan A, et al. Among authors: ahmad f. Genes (Basel). 2020 Aug 31;11(9):1021. doi: 10.3390/genes11091021. Genes (Basel). 2020. PMID: 32878022 Free PMC article.

2

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Mehmood S, Jan A, Muhammad D, Ahmad F, Mir H, Younus M, Ali G, Ayub M, Ansar M, Ahmad W. Mehmood S, et al. Among authors: ahmad w, ahmad f. Australas J Dermatol. 2015 Aug;56(3):e66-70. doi: 10.1111/ajd.12157. Epub 2014 Mar 13. Australas J Dermatol. 2015. PMID: 24628704

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. Among authors: ahmad w, ahmad f. 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

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: ahmad w. 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.

5

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. Among authors: ahmad w, ahmad f. Congenit Anom (Kyoto). 2017 Mar;57(2):45-51. doi: 10.1111/cga.12187. Congenit Anom (Kyoto). 2017. PMID: 27577507

6

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: ahmad w, ahmad f. Ophthalmic Genet. 2017 Jul-Aug;38(4):335-339. doi: 10.1080/13816810.2016.1227456. Epub 2017 Jan 13. Ophthalmic Genet. 2017. PMID: 28085523

7

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: ahmad w. Congenit Anom (Kyoto). 2018 Jan;58(1):24-28. doi: 10.1111/cga.12226. Epub 2017 Jun 12. Congenit Anom (Kyoto). 2018. PMID: 28425126

8

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Umair M, Alhaddad B, Rafique A, Jan A, Haack TB, Graf E, Ullah A, Ahmad F, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Among authors: ahmad w, ahmad f. Pediatr Res. 2017 Nov;82(5):753-758. doi: 10.1038/pr.2017.149. Epub 2017 Jul 26. Pediatr Res. 2017. PMID: 28665926

9

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W. Ullah A, et al. Among authors: ahmad w, ahmad f. Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017. Mol Vis. 2017. PMID: 28761321 Free PMC article.

10

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics; Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Shah K, et al. Among authors: ahmad w, ahmad f. Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778. Int J Dermatol. 2017. PMID: 29130490 Free PMC article.

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