95 results on '"Amir Hossein Saeidian"'
Search Results
52. Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects
53. Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders
54. Linear basal cell nevus with a novel mosaic PTCH1 mutation
55. Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion inCDH3initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
56. Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum
57. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
58. Inherited interleukin 2-Inducible T-Cell (ITK) kinase deficiency in siblings with epidermodysplasia verruciformis and hodgkin lymphoma
59. 172 Inherited STK4/MST1 deficiency in two unrelated families with atypical epidermodysplasia verruciformis
60. 184 Whole-transcriptome analysis by RNA-Seq for genetic diagnosis of Mendelian skin disorders in the context of consanguinity
61. 186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation
62. KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family
63. Kindler syndrome, an orphan disease of cell/matrix adhesion in the skin – molecular genetics and therapeutic opportunities
64. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma
65. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families
66. Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis
67. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa
68. Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone
69. Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus
70. The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series
71. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy
72. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
73. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
74. 410 Pyrin-associated auto-inflammation with neutrophilic dermatosis (PAAND): Novel autosomal recessive MEFV mutation and successful treatment with colchicine
75. 411 Whole exome sequencing revealed the causative gene for autosomal dominant nonalcoholic fatty liver disease and/or dyslipidemia, including heterozygous carriers in Chanarin-Dorfman syndrome (CDS) families
76. 406 An in vitro splicing assay reveals the pathogenicity of intronic variants in ABCC6, the gene at fault in pseudoxanthoma elasticum
77. 403 GGCX mutations in a patient with co-existent overlapping PXE/CL phenotype and thalassemia minor
78. 407 Next generation sequencing approaches identify a novel Alu recombination-mediated large intronic deletion in CDH3 in a family with hypotrichosis with juvenile macular dystrophy (HJMD)
79. Inherited Nonalcoholic Fatty Liver Disease and/or Dyslipidemia Due to Monoallelic ABHD5 Mutations Presidential Poster Award
80. 793 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
81. 792 Genomic tools identify overlapping Mendelian disorders and provide rationale for treatment of a patient with concurrent acrodermatitis enteropathica and epidermolysis bullosa
82. 816 Iranian genetic skin and connective tissue disorders project: Epidermolysis bullosa
83. 818 Multigene next-generation sequencing panel identifies a spectrum of mutations in patients with PXE
84. 820 Customized gene-targeted next generation sequencing panel identifies a spectrum of mutations in consanguineous families affected by ichthyoses
85. 796 Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) associated with different subtypes of epidermolysis bullosa
86. Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility
87. 176 A distinct cutaneous blistering phenotype with multi-system manifestations caused by a mutation in CD151, the 20th causative gene in epidermolysis bullosa
88. LB970 ABHD5, the gene associated with Chanarin-Dorfman syndrome, can contribute to non-alcoholic fatty liver disease and dyslipidemia in mutation carriers
89. 511 Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing array targeting ichthyosis genes
90. 639 Homozygous mutation in ITK associated with monogenic inborn errors of immunity underlies susceptibility to human papilloma virus infections (epidermodysplasia verruciformis)
91. 521 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
92. 523 Disease-targeted next generation sequencing identifies mutations in consanguineous families with phenotypic spectrum of ichthyoses
93. 382 COL7A1 mutation detection in a cohort of 133 consanguineous families with recessive dystrophic epidermolysis bullosa: Comparison of disease-targeted next generation sequencing panel vs. traditional Sanger sequencing
94. 391 Expanding keratin 5 and 14 mutation databases in autosomal recessive and autosomal dominant epidermolysis bullosa simplex
95. 385 Whole genome homozygosity mapping to identify candidate genes in epidermolysis bullosa in consanguineous families
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