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The following term was not found in PubMed: maitixirepu
Page 1
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 …
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 …
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 …
How Machine Learning Will Transform Biomedicine.
Goecks J, Jalili V, Heiser LM, Gray JW. Goecks J, et al. Cell. 2020 Apr 2;181(1):92-101. doi: 10.1016/j.cell.2020.03.022. Cell. 2020. PMID: 32243801 Free PMC article. Review.
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 …
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. ...
The role of tumor microenvironment on cancer stem cell fate in solid tumors.
Razi S, Haghparast A, Chodari Khameneh S, Ebrahimi Sadrabadi A, Aziziyan F, Bakhtiyari M, Nabi-Afjadi M, Tarhriz V, Jalili A, Zalpoor H. Razi S, et al. Cell Commun Signal. 2023 Jun 16;21(1):143. doi: 10.1186/s12964-023-01129-w. Cell Commun Signal. 2023. PMID: 37328876 Free PMC article. Review.
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 …
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 …
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C, Seebauer B, Dold S, Hanson JV, Wildberger H, Spörri A, van Waes H, Berger W. Gerth-Kahlert C, et al. Eye (Lond). 2015 May;29(5):712-6. doi: 10.1038/eye.2014.314. Epub 2015 Jan 23. Eye (Lond). 2015. PMID: 25613845 Free PMC article. No abstract available.
1,083 results