Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

205 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: jafri h. 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.
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. Jackson AP, et al. Among authors: jafri h. Am J Hum Genet. 1998 Aug;63(2):541-6. doi: 10.1086/301966. Am J Hum Genet. 1998. PMID: 9683597 Free PMC article.
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Among authors: jafri h. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: jafri h. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
Null mutations in LTBP2 cause primary congenital glaucoma.
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Ali M, et al. Among authors: jafri h. Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361779 Free PMC article.
205 results