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Jalili describes several
associations and syndromes, the important ones are: |
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Syndrome #1 |
Cone rod dystrophy and
amelogenesis imperfcta |
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Syndrome #2 |
Congenital amaurosis of the
cone-rod associated with hypertrichosis. |
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Syndrome #3 |
Congenital onset central
chorioretinal dystrophy associated with high myopia. |
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Syndrome #4 |
Ectopia Lentis
plus |
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Syndrome #1 |
Cone rod dystrophy and
amelogenesis imperfcta |
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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 |
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Original
related articles link to PubMed Central |
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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; 2009:84:266–273.
The gene was found simultaneously by Polok and
Colleagues. See American Journal of Human Genetics. 2009,84:259-65. |
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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 |
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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.
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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. |
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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. |
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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. |
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A
syndrome of amelogenesis imperfecta associated with cone-rod dystrophy: dental
and ophthalmic findings - abstract.
Jalili IK, Smith NJD. Journal of Dental Research 1988.
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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) |
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Syndrome #2 |
Congenital amaurosis of the
cone-rod associated with hypertrichosis. |
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Cone
rod congenital amaurosis associated with
congenital hypertrichosis: an
autosomal recessive condition.
Jalili
IK. Journal
of Medical Genetics, 1989;26:504-510.
(OMIM
204110) |
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Original articles link to
PubMed Central
(Reprint)
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Syndrome #3 |
Congenital onset central
chorioretinal dystrophy associated with high myopia. |
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Congenital onset central
chorioretinal dystrophy associated with high myopia.
Iqbal M, Jalili IK.
Eye
1998;12:260-265. (Reprint) |
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