Ismail K Jalili

FRCS, DO, FRCOphth


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Jalili
Several new associations and syndromes have been published which are described below:
Syndrome #1  Cone rod dystrophy and amelogenesis imperfecta
   

Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye 2010; 24, 1659-1668 (November 2010) doi:10.1038/eye.2010.103

Author's Peers Reviewed Manuscript  htm / pdf

       
Original related articles link to PubMed Central
   

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta (Link to the article)   pdf version.
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. American Journal of Human Genetics; 2009:84:266273.
The gene was found simultaneously by Polok and Colleagues. See American Journal of Human Genetics. 2009,84:259-65.

       
    Amelogenesis Imperfecta and Central Blindness: An Inherited Syndrome.
Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Blain K, Mansfield D, Moore AT and Inglehearn CF. International Association for Dental research (IADR), July 2008. Link to the article
       
    Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11.
Inglehearn CF, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Carlos R, Blain KM, Mansfield DC, Moore AT, Mighell AJ.
       
    Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11.  ARVO Presentation
Inglehearn CF, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Carlos R, Blain KM, Mansfield DC, Moore AT, Mighell AJ.  (The Association for Research in Vision and Ophthalmology (ARVO) 2008. 
       
    Increased band sharing in DNA fingerprints of an inbred human population.  Bellamy RJ, Inglehearn CF, Jalili IK, Jeffreys AJ, Bhattacharya SS.  Human Genetics 1991;87:341-347. (Reprint)
The paper have demonstrated that moderate but prolonged inbreeding can lead to increased similarity in human DNA fingerprints. This should be considered when analysing DNA fingerprints in forensic or paternity cases involving members of an inbred community.
       
    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. European Journal of Human Genetics 2002:19,865-860.
       
    A syndrome of amelogenesis imperfecta associated with cone-rod dystrophy: dental and ophthalmic findings - abstract. 
Jalili IK, Smith NJD. Journal of Dental Research 1988.
       
    A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. (OMIM 217080)
Jalili IK, Smith NJD.  Journal of Medical Genetics, 1988;25:738-740.  (Reprint)     
       
Syndrome #2 Congenital amaurosis of the cone-rod associated with hypertrichosis.
    Cone rod congenital amaurosis associated with congenital hypertrichosis:  an autosomal recessive condition. 
Jalili IK.  Journal of Medical Genetics, 1989;26:504-510.
(OMIM 204110)
       
Original articles link to PubMed Central (Reprint)  
Syndrome #3  Congenital onset central chorioretinal dystrophy associated with high myopia.
    Congenital onset central chorioretinal dystrophy associated with high myopia.
Iqbal M, Jalili IK.
Eye 1998;12:260-265.  (Reprint)
       

Ismail K Jalili 2000-2016