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Ismail K Jalili FRCS, DO, FRCOphth  
Welcome to my website
   
Latest Publications

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

  Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.  Eye 2010; 24, 1659-1668 (November 2010) Link Corrigendum

Author's Peers Reviewed Manuscript
  htm /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. htm / pdf

  Other related publications by peers:
 

Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C, Seebauer B, Dold S, Hanson JV Wildberger H, Spörri A, van Waes H, Berger W.
Eye (Lond). 2015 Jan 23. doi: 10.1038/eye.2014.314. [Epub ahead of print] Link

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL.
Ophthalmic Genet. 2013 Sep;34(3):119-29. Link

Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ 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
 

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.
Y
amazaki 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.
.
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 

 

Ismail K Jalili 2000-2015