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Page 1
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 homozygous missense variant, c.1475G>A …
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. ...Jalili syndrome has been observed in many countries around the world, especially in the Middle East and North Africa. ...
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. ...Jalili syndrome has been observed in …
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. 2023 Dec 27. doi: 10.1111/scd.12953. Online ahead of print. Spec Care Dentist. 2023. 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. ...
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 …
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." DESIGN: Retrospective observational case series. METHODS: Seven patients from 6 fami …
PURPOSE: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations …
Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144
It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography. ...These analyses did not identify any a …
It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili s …
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. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at th …
Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imp …
Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.
Purwar P, Sareen S, Bhartiya K, Sayed Inayatullah SR, Bansal M, Chahal V, Gupta SK, Dixit J, Sheel V, Rai P. Purwar P, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Nov;120(5):e210-8. doi: 10.1016/j.oooo.2015.04.002. Epub 2015 Apr 24. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015. PMID: 26117809
Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). ...
Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) an …
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 …
1,087 results