Literature DB >> 25613845

Intra-familial phenotype variability in patients with Jalili syndrome.

C Gerth-Kahlert1, B Seebauer2, S Dold2, J V M Hanson1, H Wildberger1, A Spörri3, H van Waes3, W Berger4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25613845      PMCID： PMC4429266          DOI： 10.1038/eye.2014.314

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


× No keyword cloud information.
  10 in total

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

Authors:  M Michaelides; A Bloch-Zupan; G E Holder; D M Hunt; A T Moore
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

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

Authors:  I K Jalili
Journal:  Eye (Lond)       Date:  2010-08-13       Impact factor: 3.775

3.  Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.

Authors:  Ditta Zobor; Dieter H Kaufmann; Petra Weckerle; Alexandra Sauer; Bernd Wissinger; Helmut Wilhelm; Susanne Kohl
Journal:  Ophthalmic Genet       Date:  2011-07-05       Impact factor: 1.803

4.  A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.

Authors:  I K Jalili; N J Smith
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

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

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

Authors:  Lance Doucette; Jane Green; Coleman Black; Jeremy Schwartzentruber; Gordon J Johnson; Dante Galutira; Terry-Lynn Young
Journal:  Ophthalmic Genet       Date:  2013-01-30       Impact factor: 1.803

7.  Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Authors:  Frauke Coppieters; Kristof Van Schil; Miriam Bauwens; Hannah Verdin; Annelies De Jaegher; Delfien Syx; Tom Sante; Steve Lefever; Nouha Bouayed Abdelmoula; Fanny Depasse; Ingele Casteels; Thomy de Ravel; Françoise Meire; Bart P Leroy; Elfride De Baere
Journal:  Genet Med       Date:  2014-03-13       Impact factor: 8.822

8.  Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Authors:  Leen Abu-Safieh; May Alrashed; Shamsa Anazi; Hisham Alkuraya; Arif O Khan; Mohammed Al-Owain; Jawahir Al-Zahrani; Lama Al-Abdi; Mais Hashem; Salwa Al-Tarimi; Mohammed-Adeeb Sebai; Ahmed Shamia; Mohamed D Ray-Zack; Malik Nassan; Zuhair N Al-Hassnan; Zuhair Rahbeeni; Saad Waheeb; Abdullah Alkharashi; Emad Abboud; Selwa A F Al-Hazzaa; Fowzan S Alkuraya
Journal:  Genome Res       Date:  2012-10-26       Impact factor: 9.043

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
  10 in total
  6 in total

1.  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

2.  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

3.  Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations.

Authors:  Robert A Hyde; Evelina Kratunova; Jason C Park; J Jason McAnany
Journal:  Ophthalmic Genet       Date:  2021-12-07       Impact factor: 1.274

4.  Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Authors:  Nashila Hirji; Patrick D Bradley; Shuning Li; Ajoy Vincent; Mark E Pennesi; Akshay S Thomas; Elise Heon; Aparna Bhan; Omar A Mahroo; Anthony Robson; Chris F Inglehearn; Anthony T Moore; Michel Michaelides
Journal:  Am J Ophthalmol       Date:  2018-02-05       Impact factor: 5.258

5.  Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.

Authors:  Huajin Li; Yanfeng Huang; Jing Li; Maosong Xie
Journal:  Mol Genet Genomic Med       Date:  2022-02-12       Impact factor: 2.183

6.  Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Authors:  Lev Prasov; Ehsan Ullah; Amy E Turriff; Blake M Warner; Julie Conley; Paul R Mark; Robert B Hufnagel; Laryssa A Huryn
Journal:  Am J Med Genet A       Date:  2020-02-05       Impact factor: 2.578
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.