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Items: 16

1.

Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene.

Maia CMF, Machado RA, Gil-da-Silva-Lopes VL, Lustosa-Mendes E, Rim PHH, Dias VO, Martelli DRB, Nasser LS, Coletta RD, Martelli-Júnior H.

Eur J Med Genet. 2018 Jul;61(7):384-387. doi: 10.1016/j.ejmg.2018.02.003. Epub 2018 Feb 5.

PMID:
29421602
2.

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.

Am J Ophthalmol. 2018 Apr;188:123-130. doi: 10.1016/j.ajo.2018.01.029. Epub 2018 Feb 5.

3.

Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI.

Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10.

PMID:
29322253
4.

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.

Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6.

PMID:
28586144
5.

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

Cherkaoui Jaouad I, Lyahyai J, Guaoua S, El Alloussi M, Zrhidri A, Doubaj Y, Boulanouar A, Sefiani A.

Eur J Med Genet. 2017 May;60(5):239-244. doi: 10.1016/j.ejmg.2017.02.004. Epub 2017 Feb 27.

PMID:
28246031
6.

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.

Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15.

7.

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.

Ophthalmic Genet. 2017 Mar-Apr;38(2):161-166. doi: 10.3109/13816810.2016.1164192. Epub 2016 Apr 12.

PMID:
27070327
8.

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.

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.

PMID:
26117809
9.

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.

Eye (Lond). 2015 May;29(5):712-6. doi: 10.1038/eye.2014.314. Epub 2015 Jan 23. No abstract available.

10.

Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.

Yamazaki D, Funato Y, Miura J, Sato S, Toyosawa S, Furutani K, Kurachi Y, Omori Y, Furukawa T, Tsuda T, Kuwabata S, Mizukami S, Kikuchi K, Miki H.

PLoS Genet. 2013;9(12):e1003983. doi: 10.1371/journal.pgen.1003983. Epub 2013 Dec 5.

11.

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

Luder HU, Gerth-Kahlert C, Ostertag-Benzinger S, Schorderet DF.

PLoS One. 2013 Oct 23;8(10):e78529. doi: 10.1371/journal.pone.0078529. eCollection 2013.

12.

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL.

Ophthalmic Genet. 2013 Sep;34(3):119-29. doi: 10.3109/13816810.2013.763993. Epub 2013 Jan 30.

PMID:
23362848
13.

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.

Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5.

PMID:
21728811
14.

Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.

Gómez García I, Oyenarte I, Martínez-Cruz LA.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Mar 1;67(Pt 3):349-53. doi: 10.1107/S1744309110053856. Epub 2011 Feb 23.

15.

Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.

Jalili IK.

Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13. Erratum in: Eye (Lond). 2010 Nov;24(11):1734-5.

PMID:
20706282
16.

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.

Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5.

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