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Did you mean a jalali (3,795 results)?
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. ...In the current scoping systematic rev …
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy …
Dentofacial manifestations in a child with Jalili syndrome.
Ravi M, Karthikeyan PD, Tewari N, Morankar R, Gupta AK, Nehta H, Raghuthaman S. Ravi M, et al. Spec Care Dentist. 2024 Jul-Aug;44(4):1026-1035. doi: 10.1111/scd.12953. Epub 2023 Dec 27. Spec Care Dentist. 2024. PMID: 38151709
Jalili syndrome (JS) (MIM#217080) is a rare autosomal recessive disorder with oculo-dental malformations. ...
Jalili syndrome (JS) (MIM#217080) is a rare autosomal recessive disorder with oculo-dental malformations. ...
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.
Parveen A, Mirza MU, Vanmeert M, Akhtar J, Bashir H, Khan S, Shehzad S, Froeyen M, Ahmed W, Ansar M, Wasif N. Parveen A, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e902. doi: 10.1002/mgg3.902. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347285 Free PMC article.
BACKGROUND: Jalili syndrome (JS) is a rare cone-rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and CBS Domain Divalent Met …
BACKGROUND: Jalili syndrome (JS) is a rare cone-rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical …
A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.
Tawfik CA, Aly HS, Kabeel M, Yousri I, Mohamed SA. Tawfik CA, et al. Doc Ophthalmol. 2025 Jun;150(3):189-196. doi: 10.1007/s10633-025-10018-1. Epub 2025 Apr 15. Doc Ophthalmol. 2025. PMID: 40232358 Free PMC article.
PURPOSE: To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). ...CONCLUSION: To the best of our kn …
PURPOSE: To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inheri …
Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations.
Hyde RA, Kratunova E, Park JC, McAnany JJ. Hyde RA, et al. Ophthalmic Genet. 2022 Apr;43(2):268-276. doi: 10.1080/13816810.2021.2002916. Epub 2021 Dec 7. Ophthalmic Genet. 2022. PMID: 34875963 Free PMC article.
PURPOSE: To evaluate retinal function in a family presenting with Jalili syndrome due to a previously unreported variant in CNNM4. METHODS: A family of three sisters with a novel CNNM4 variant, c.482 T > C p....RESULTS: Clinical findings of cone dysfunction and amelogen …
PURPOSE: To evaluate retinal function in a family presenting with Jalili syndrome due to a previously unreported variant in CNNM4. ME …
Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.
Suresh S, Zuberi HZ, Khandekar R, Buchanan EB, Kooner KS. Suresh S, et al. Cureus. 2024 Sep 4;16(9):e68670. doi: 10.7759/cureus.68670. eCollection 2024 Sep. Cureus. 2024. PMID: 39371887 Free PMC article.
We describe a 29-year-old Iranian male with Jalili-Smith syndrome (JSS), who presented with acute angle closure glaucoma. JSS is a rare autosomal recessive oculo-dental disorder characterized by cone-rod dystrophy and amelogenesis imperfecta. ...
We describe a 29-year-old Iranian male with Jalili-Smith syndrome (JSS), who presented with acute angle closure glaucoma. JSS is a ra …
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.
Li H, Huang Y, Li J, Xie M. Li H, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1860. doi: 10.1002/mgg3.1860. Epub 2022 Feb 12. Mol Genet Genomic Med. 2022. PMID: 35150469 Free PMC article.
BACKGROUND: Jalili syndrome (JS) is a rare autosomal-recessive inherited disorder characterized by cone-rod dystrophy and amelogenesis imperfecta. ...
BACKGROUND: Jalili syndrome (JS) is a rare autosomal-recessive inherited disorder characterized by cone-rod dystrophy and amelogenesi …
A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
Topçu V, Alp MY, Alp CK, Bakır A, Geylan D, Yılmazoğlu MÖ. Topçu V, et al. Ophthalmic Genet. 2017 Mar-Apr;38(2):161-166. doi: 10.3109/13816810.2016.1164192. Epub 2016 Apr 12. Ophthalmic Genet. 2017. PMID: 27070327
Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. ...
Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogen …
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA. Prasov L, et al. Am J Med Genet A. 2020 Mar;182(3):493-497. doi: 10.1002/ajmg.a.61484. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022389 Free PMC article.
Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imperfecta. ...Here we describe a case series of patients with Jalili syndrome examined at the National Eye Institute's Ophthalmic Genet …
Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imp …
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Rahimi-Aliabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, Ghaedi H, Noroozi R, Taghavi S, Ahmadifard A, Alehabib E, Andarva M, Shokraeian P, Atakhorrami M, Darvish H. Rahimi-Aliabadi S, et al. Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15. Eye (Lond). 2016. PMID: 27419834 Free PMC article.
In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with 24 members affected with Jalili syndrome were enrolled in the study. Comprehensive ophthalmologic and dental examinations were perfo …
In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with …
1,289 results