Meta-analysis of genotype-phenotype associations in AlstroÌm syndrome.
暂无分享,去创建一个
[1] Jonathan K. Vis,et al. Mutalyzer 2: next generation HGVS nomenclature checker , 2020, bioRxiv.
[2] G. Limongelli,et al. Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome , 2020, Molecular genetics & genomic medicine.
[3] B. Chung,et al. Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome , 2019, American journal of medical genetics. Part A.
[4] V. Niederlova,et al. Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes , 2019, Human mutation.
[5] Yumei Li,et al. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants , 2019, BMC Ophthalmology.
[6] T. Ben‐Yosef,et al. Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child , 2019, Ophthalmic genetics.
[7] E. Zrenner,et al. Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene , 2018, Acta ophthalmologica.
[8] Anna Skorczyk-Werner,et al. Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis , 2017 .
[9] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[10] R. Lewis,et al. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis , 2016, PloS one.
[11] Peiquan Zhao,et al. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population , 2016, Graefe's Archive for Clinical and Experimental Ophthalmology.
[12] C. Rivolta,et al. A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family , 2016, Clinical genetics.
[13] M. Borowiec,et al. Genetic evaluation of patients with Alström syndrome in the Polish population , 2016, Clinical genetics.
[14] B. Fernandez,et al. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care , 2015, Clinical genetics.
[15] A. Swaroop,et al. Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF , 2015, Human mutation.
[16] Jared Evans,et al. Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non‐syndromic dilated cardiomyopathy , 2015, American journal of medical genetics. Part A.
[17] V. Umashankar,et al. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort , 2015, Clinical genetics.
[18] H. Peeters,et al. Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. , 2014, European journal of medical genetics.
[19] O. Ozdemır,et al. Characteristic findings of alstrom syndrome with a case report , 2013 .
[20] Véronique Geoffroy,et al. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes , 2012, Journal of Medical Genetics.
[21] M. Baiget,et al. Molecular approach in the study of Alström syndrome: Analysis of ten Spanish families , 2012, Molecular vision.
[22] J. Naggert,et al. Alström Syndrome: Genetics and Clinical Overview , 2011, Current genomics.
[23] J. Naggert,et al. Alström Syndrome , 2007, European Journal of Human Genetics.
[24] W. V. So,et al. Spectrum of ALMS1 variants and evaluation of genotype‐phenotype correlations in Alström syndrome , 2007, Human mutation.
[25] M. Walker,et al. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. , 2006, The Journal of clinical endocrinology and metabolism.
[26] K. Karșıdağ,et al. Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings. , 2002, Diabetes research and clinical practice.