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1988 1
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Page 1
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF. Polok B, et al. Am J Hum Genet. 2009 Feb;84(2):259-65. doi: 10.1016/j.ajhg.2009.01.006. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200527 Free PMC article.
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlik
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainl
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
Jalili IK. Jalili IK. Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13. Eye (Lond). 2010. PMID: 20706282
PURPOSE: To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili …
PURPOSE: To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and …
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. Zobor D, et al. Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5. Ophthalmic Genet. 2012. PMID: 21728811
PURPOSE: To report a case of a 9-year-old child with neurofibromatosis type 1 (NF1) and Jalili syndrome, the latter denoting a rare combination of cone-rod dystrophy and amelogenesis imperfecta. METHODS: Detailed ophthalmological and electrophys …
PURPOSE: To report a case of a 9-year-old child with neurofibromatosis type 1 (NF1) and Jalili syndrome, the latter denoting a rare combinat …
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. Hirji N, et al. Am J Ophthalmol. 2018 Apr;188:123-130. doi: 10.1016/j.ajo.2018.01.029. Epub 2018 Feb 5. Am J Ophthalmol. 2018. PMID: 29421294 Free PMC article.
PURPOSE: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as "Jalili Syndrome." ...Multimodal imaging demonstrated disease progression i …
PURPOSE: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta
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. 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.
The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a …
The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was fi …
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.
Jalili IK, Smith NJ. Jalili IK, et al. J Med Genet. 1988 Nov;25(11):738-40. doi: 10.1136/jmg.25.11.738. J Med Genet. 1988. PMID: 3236352 Free PMC article.
Twenty-nine members of an extended Arab family from the Gaza Strip were found to be affected with cone-rod dystrophy and amelogenesis imperfecta, inherited in an autosomal recessive manner....
Twenty-nine members of an extended Arab family from the Gaza Strip were found to be affected with cone-rod dystrophy an …
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. Eur J Hum Genet. 2002 Dec;10(12):865-9. doi: 10.1038/sj.ejhg.5200884. Eur J Hum Genet. 2002. PMID: 12461695
A consanguineous Arab pedigree in which recessive amelogenesis imperfecta (AI) and cone-rod dystrophy cosegregate, was screened for linkage to known retinal dystrophy and tooth abnormality loci by genotyping neighbouring microsatellite ma …
A consanguineous Arab pedigree in which recessive amelogenesis imperfecta (AI) and cone-rod dystrophy cos …
Novel CNNM4 variant and clinical features of Jalili syndrome.
Rattanapornsompong K, Gavila P, Tungsanga S, Chanakul A, Apivatthakakul A, Tengsujaritkul M, Tongsong T, Theerapanon T, Porntaveetus T, Shotelersuk V. Rattanapornsompong K, et al. Clin Genet. 2023 Feb;103(2):256-257. doi: 10.1111/cge.14258. Epub 2022 Nov 10. Clin Genet. 2023. PMID: 36354001
The study identifies a non-consanguineous multigenerational family of the Lua ethnic group in Northern Thailand with three members affected with hypoplastic-hypocalcified amelogenesis imperfecta, cone-rod dystrophy, and harboring a novel homozyg …
The study identifies a non-consanguineous multigenerational family of the Lua ethnic group in Northern Thailand with three members affected …
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B. Daneshmandpour Y, et al. J Med Genet. 2019 Jun;56(6):358-369. doi: 10.1136/jmedgenet-2018-105716. Epub 2019 Jan 31. J Med Genet. 2019. PMID: 30705057
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome patients as the main and primary manifestations. ...
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode …
31 results