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95 results on '"Amir Hossein Saeidian"'

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51. Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability

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

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)

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

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

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

95. 385 Whole genome homozygosity mapping to identify candidate genes in epidermolysis bullosa in consanguineous families

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