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Ismail K Jalili FRCS,
DO, FRCOphth |
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Welcome to my website |
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Latest Publications |
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A
study in pleiotropy – Jalili syndrome.
Pratibha Nair, Tasneem Obeid, Ghazi Omar Tadmouri,Najib Al-Khaja1 and Ismail
K Jalili.
Hamdan Medical Journal 2013;
6:233–240. Link |
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Cone-rod dystrophy and
amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye 2010; 24, 1659-1668 (November 2010)
Author's Peers Reviewed Manuscript
htm
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pdf
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.
Am J Hum Genet. 2009;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub
2009 Feb 5. (pdf)
/ Link
19200525
Retinal Ciliopathies: Cone-Rod Ciliopathies and mutations in Jalili syndrome.
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Other related publications by peers: |
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Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous
mutation in the CNNM4 gene.
Luder HU, Gerth-Kahlert C,
Ostertag-Benzinger S, Schorderet DF.
PLoS One. 2013:23;8(10):e78529.
Link
Basolateral Mg(2+) Extrusion via CNNM4 Mediates Transcellular Mg(2+)
Transport across Epithelia: A Mouse Model.
Yamazaki D, Funato Y, Miura J, Sato
S, Toyosawa S, Furutani K, Kurachi Y, Omori Y, Furukawa T, Tsuda T,
Kuwabata S, Mizukami S, Kikuchi K, Miki H.
PLoS Genet. 2013;9(12):e1003983.
Link
Molecular Genetics of Achromatopsia in Newfoundland
Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili
Syndrome in North America.
Link to PubMed
Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D,
Young TL.
Ophthalmic Genet. 2013 Jan 30.
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with
neurofibromatosis type 1
Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S.
Ophthalmic Genet. 2011 Jul 5.
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Purification, crystallization and preliminary crystallographic analysis of
the CBS pair of the human metal transporter CNNM4
Gómez García I, Oyenarte I, Martínez-Cruz LA.
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Mar 1;67(Pt
3):349-53. Epub 2011 Feb 23.
PMID: 21393841 |
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