Ahmed M - Search Results

1

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.

2

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

Willis TA, Potrata B, Ahmed M, Hewison J, Gale R, Downey L, McKibbin M. Willis TA, et al. Among authors: ahmed m. Br J Ophthalmol. 2013 Sep;97(9):1148-54. doi: 10.1136/bjophthalmol-2013-303434. Epub 2013 Jun 28. Br J Ophthalmol. 2013. PMID: 23813418 Free PMC article.

3

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.

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 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.

6

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

7

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.

8

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease.

McKibbin M, Ahmed M, Allsop MJ, Downey L, Gale R, Grant HL, Potrata B, Willis TA, Hewison J. McKibbin M, et al. Among authors: ahmed m. Eur J Hum Genet. 2014 Sep;22(9):1058-62. doi: 10.1038/ejhg.2013.296. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398793 Free PMC article.

9

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: ahmed m. Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693231 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

9,261 results

Search Page