Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1946 1
1947 1
1952 1
1959 1
1961 1
1962 1
1969 1
1982 3
1984 2
1985 5
1986 4
1987 3
1988 1
1989 2
1991 2
1993 4
1994 4
1996 1
1997 2
1998 3
1999 5
2000 2
2001 1
2002 11
2003 6
2004 10
2005 10
2006 5
2007 22
2008 27
2009 20
2010 37
2011 39
2012 55
2013 50
2014 56
2015 63
2016 75
2017 51
2018 74
2019 100
2020 119
2021 113
2022 113
2023 83
2024 109
2025 100
2026 60

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,291 results

Results by year

Filters applied: . Clear all
The following term was not found in PubMed: Farokhro
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. 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 …
Amalgam.
Jalili VP. Jalili VP. J Pierre Fauchard Acad. 1991 Mar;5(1):9-10. J Pierre Fauchard Acad. 1991. PMID: 1810327 No abstract available.
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 …
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Rattanapornsompong K, Rinkrathok M, Sriwattanapong K, Shotelersuk V, Porntaveetus T. Rattanapornsompong K, et al. Sci Rep. 2024 Nov 23;14(1):29091. doi: 10.1038/s41598-024-80720-8. Sci Rep. 2024. PMID: 39580587 Free PMC article.
Jalili syndrome, an autosomal recessive disorder causing cone-rod dystrophy and amelogenesis imperfecta, is a rare genetic disorder impacting visual and dental development. ...This suggests that the pathogenic mechanism underlying Jalili syndrome associated with the …
Jalili syndrome, an autosomal recessive disorder causing cone-rod dystrophy and amelogenesis imperfecta, is a rare genetic disorder i …
Clinical and Histopathologic Findings in Jalili Syndrome.
Franca M, Providência J, Castela G, Patrício D, Sousa IS, Ambrósio AF, Alves CH, Marques JP. Franca M, et al. Ophthalmol Retina. 2025 May;9(5):476-483. doi: 10.1016/j.oret.2024.11.002. Epub 2024 Nov 9. Ophthalmol Retina. 2025. PMID: 39522753
PURPOSE: To correlate histopathologic findings in an eye with Jalili syndrome with clinical and imaging results available before enucleation. DESIGN: Case report with histopathologic analysis. ...RESULTS: The ocular specimen analyzed belonged to a 63-year-old woman with …
PURPOSE: To correlate histopathologic findings in an eye with Jalili syndrome with clinical and imaging results available before enuc …
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. ...
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 …
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 …
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. ...Our results expand the mutational spe …
It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili s …
1,291 results