Literature DB >> 15173235

An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.

M Michaelides, A Bloch-Zupan, G E Holder, D M Hunt, A T Moore.   

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Year:  2004        PMID： 15173235      PMCID： PMC1735797          DOI： 10.1136/jmg.2003.015792

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Intra-familial phenotype variability in patients with Jalili syndrome.

Authors:  C Gerth-Kahlert; B Seebauer; S Dold; J V M Hanson; H Wildberger; A Spörri; H van Waes; W Berger
Journal:  Eye (Lond)       Date:  2015-01-23       Impact factor: 3.775

2.  A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

Authors:  S Rahimi-Aliabadi; N Daftarian; H Ahmadieh; B Emamalizadeh; J Jamshidi; A Tafakhori; H Ghaedi; R Noroozi; S Taghavi; A Ahmadifard; E Alehabib; M Andarva; P Shokraeian; M Atakhorrami; H Darvish
Journal:  Eye (Lond)       Date:  2016-07-15       Impact factor: 3.775

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

Authors:  Sisi Li; Quansheng Xi; Xiaoyu Zhang; Dong Yu; Lin Li; Zhenyang Jiang; Qiuyun Chen; Qing K Wang; Elias I Traboulsi
Journal:  Mol Genet Genomics       Date:  2018-01-10       Impact factor: 3.291

4.  A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.

Authors:  Chen Zhao; Shasha Lu; Xiaolei Zhou; Xiumei Zhang; Kanxing Zhao; Catharina Larsson
Journal:  Hum Genet       Date:  2006-04-13       Impact factor: 4.132

5.  Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Authors:  Bozena Polok; Pascal Escher; Aude Ambresin; Eliane Chouery; Sylvain Bolay; Isabelle Meunier; Francis Nan; Christian Hamel; Francis L Munier; Bernard Thilo; André Mégarbané; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

Review 6.  Amelogenesis imperfecta.

Authors:  Peter J M Crawford; Michael Aldred; Agnes Bloch-Zupan
Journal:  Orphanet J Rare Dis       Date:  2007-04-04       Impact factor: 4.123

Review 7.  Cone rod dystrophies.

Authors:  Christian P Hamel
Journal:  Orphanet J Rare Dis       Date:  2007-02-01       Impact factor: 4.123

8.  Amelogenesis imperfecta and generalized gingival overgrowth resembling hereditary gingival fibromatosis in siblings: a case report.

Authors:  Emre Yaprak; Meryem Gülce Subaşı; Mustafa Avunduk; Filiz Aykent
Journal:  Case Rep Dent       Date:  2012-10-09

9.  Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

Authors:  David A Parry; Alan J Mighell; Walid El-Sayed; Roger C Shore; Ismail K Jalili; Hélène Dollfus; Agnes Bloch-Zupan; Roman Carlos; Ian M Carr; Louise M Downey; Katharine M Blain; David C Mansfield; Mehdi Shahrabi; Mansour Heidari; Parissa Aref; Mohsen Abbasi; Michel Michaelides; Anthony T Moore; Jennifer Kirkham; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

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

Authors:  Hans U Luder; Christina Gerth-Kahlert; Silke Ostertag-Benzinger; Daniel F Schorderet
Journal:  PLoS One       Date:  2013-10-23       Impact factor: 3.240
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