Ahmed M - Search Results

1

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT. Hollstein R, et al. Among authors: ahmed m. J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424145 Free PMC article.

2

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ. Richardson RJ, et al. Among authors: ahmed m. J Med Genet. 2006 Jul;43(7):e37. doi: 10.1136/jmg.2005.037655. J Med Genet. 2006. PMID: 16816024 Free PMC article.

3

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

Downey LM, Bottomley HM, Sheridan E, Ahmed M, Gilmour DF, Inglehearn CF, Reddy A, Agrawal A, Bradbury J, Toomes C. Downey LM, et al. Among authors: ahmed m. Br J Ophthalmol. 2006 Sep;90(9):1163-7. doi: 10.1136/bjo.2006.092114. Br J Ophthalmol. 2006. PMID: 16929062 Free PMC article.

4

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Joss SK, et al. Among authors: ahmed m. Eur J Pediatr. 2008 Mar;167(3):341-5. doi: 10.1007/s00431-007-0468-1. Epub 2007 May 3. Eur J Pediatr. 2008. PMID: 17476528 Review.

5

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT. Uppal S, et al. Among authors: ahmed m. Nat Genet. 2008 Jun;40(6):789-93. doi: 10.1038/ng.153. Epub 2008 May 25. Nat Genet. 2008. PMID: 18500342

6

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ. El-Sayed W, et al. Among authors: ahmed m. Am J Hum Genet. 2009 Nov;85(5):699-705. doi: 10.1016/j.ajhg.2009.09.014. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853237 Free PMC article.

7

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. Abdollahi MR, et al. Among authors: ahmed m. Am J Hum Genet. 2009 Nov;85(5):737-44. doi: 10.1016/j.ajhg.2009.10.007. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896110 Free PMC article.

8

Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK.

Ahmed S, Ahmed M, Sharif SM, Sheridan E, Taylor GR. Ahmed S, et al. Among authors: ahmed m. Prenat Diagn. 2012 Oct;32(10):954-9. doi: 10.1002/pd.3940. Epub 2012 Jul 17. Prenat Diagn. 2012. PMID: 22806755

9

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

Parry DA, Holmes TD, Gamper N, El-Sayed W, Hettiarachchi NT, Ahmed M, Cook GP, Logan CV, Johnson CA, Joss S, Peers C, Prescott K, Savic S, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: ahmed m. J Allergy Clin Immunol. 2016 Mar;137(3):955-7.e8. doi: 10.1016/j.jaci.2015.08.051. Epub 2015 Nov 10. J Allergy Clin Immunol. 2016. PMID: 26560041 Free PMC article. No abstract available.

10

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

Zhang S, Malik Sharif S, Chen YC, Valente EM, Ahmed M, Sheridan E, Bennett C, Woods G. Zhang S, et al. Among authors: ahmed m. J Med Genet. 2016 Aug;53(8):533-5. doi: 10.1136/jmedgenet-2015-103646. Epub 2016 Mar 14. J Med Genet. 2016. PMID: 26975306 Free PMC article.

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