Pages that link to "Q35762928"
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The following pages link to Alström Syndrome: Mutation Spectrum of ALMS1. (Q35762928):
Displaying 34 items.
- Alström syndrome: current perspectives (Q26801117) (← links)
- Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects (Q28975783) (← links)
- Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study (Q30408445) (← links)
- Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts (Q33906983) (← links)
- 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. (Q35956430) (← links)
- A compendium of human genes regulating feeding behavior and body weight, its functional characterization and identification of GWAS genes involved in brain-specific PPI network (Q36255013) (← links)
- Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients (Q36404674) (← links)
- Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (Q36463209) (← links)
- Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy (Q36596454) (← links)
- Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. (Q38787335) (← links)
- The cilium: a cellular antenna with an influence on obesity risk (Q38870745) (← links)
- Respiratory manifestations in 38 patients with Alström syndrome (Q38913095) (← links)
- Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome (Q38937337) (← links)
- Genetic evaluation of patients with Alström syndrome in the Polish population. (Q38973267) (← links)
- A systematic review of genetic syndromes with obesity (Q39202448) (← links)
- Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia (Q41173481) (← links)
- Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes (Q41841196) (← links)
- Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene (Q48200102) (← links)
- Kidney Transplantation in Alström Syndrome: Case Report (Q50346954) (← links)
- Follicular variant of papillary thyroid cancer in Alström syndrome (Q50352453) (← links)
- A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family. (Q51804052) (← links)
- Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. (Q52339934) (← links)
- Comprehensive Endocrine-Metabolic Evaluation of Patients with Alström Syndrome Compared to BMI-Matched Controls. (Q53689125) (← links)
- Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome. (Q55030121) (← links)
- Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics (Q56360434) (← links)
- Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options. (Q64962270) (← links)
- Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center (Q90670599) (← links)
- A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants (Q91763211) (← links)
- Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients (Q92339815) (← links)
- ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits (Q93021066) (← links)
- Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report (Q93128566) (← links)
- Ocular evaluation and genetic test for an early Alström Syndrome diagnosis (Q99566294) (← links)
- A very early diagnosis of Alstrӧm syndrome by next generation sequencing (Q99635683) (← links)
- Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation (Q99711633) (← links)