Inglehearn CF - Search Results

1

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Poulter JA, El-Sayed W, Shore RC, Kirkham J, Inglehearn CF, Mighell AJ. Poulter JA, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2014 Jan;22(1):132-5. doi: 10.1038/ejhg.2013.76. Epub 2013 May 1. Eur J Hum Genet. 2014. PMID: 23632796 Free PMC article.

2

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, al-Maghtheh M, Vithana E, Bird AC, Bhattacharya SS. Inglehearn CF, et al. J Med Genet. 1998 Jan;35(1):1-5. doi: 10.1136/jmg.35.1.1. J Med Genet. 1998. PMID: 9475085 Free PMC article.

3

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Keen TJ, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797. Eur J Hum Genet. 2002. PMID: 12032732

4

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.

Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF. Downey LM, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2002 Dec;10(12):865-9. doi: 10.1038/sj.ejhg.5200884. Eur J Hum Genet. 2002. PMID: 12461695

5

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn CF. Keen TJ, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2003 May;11(5):420-3. doi: 10.1038/sj.ejhg.5200981. Eur J Hum Genet. 2003. PMID: 12734549

6

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions.

Ponchel F, Toomes C, Bransfield K, Leong FT, Douglas SH, Field SL, Bell SM, Combaret V, Puisieux A, Mighell AJ, Robinson PA, Inglehearn CF, Isaacs JD, Markham AF. Ponchel F, et al. Among authors: inglehearn cf. BMC Biotechnol. 2003 Oct 13;3:18. doi: 10.1186/1472-6750-3-18. BMC Biotechnol. 2003. PMID: 14552656 Free PMC article.

7

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Parry DA, et al. Among authors: inglehearn cf. Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200525 Free PMC article.

8

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: inglehearn cf. 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.

9

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: inglehearn cf. 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.

10

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: inglehearn cf. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.

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