293 results on '"Vahidnezhad H"'
Search Results
2. 876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation
3. 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa
4. 310 Metatranscriptomics detects emerging multidrug-resistant Candida auris in a family with a mild TP63-associated ectodermal dysplasia
5. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
6. 044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations
7. 055 Whole-transcriptome Sequencing-Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency
8. 309 Losartan treatment improves recessive dystrophic Epidermolysis bullosa
9. 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
10. 491 Recalcitrant cutaneous warts in a family with inherited ICOS deficiency
11. 495 Mutations in different domains of bullous pemphigoid antigen-1 (BPGA1) encoded by DST result in either epidermolysis bullosa simplex or musculoskeletal and neuronal deformities-associated HSAN-VI
12. 493 Chronic mucocutaneous candidiasis due to Candida auris and non-albicans Candida species in a family with a mild TP63-associated ectodermal dysplasia
13. 489 Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions
14. 258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases
15. 497 Genetic variability of viral and human genomes in a large cohort of patients with typical epidermodysplasia verruciformis
16. LB977 Whole-transcriptome Sequencing Determines Host Genetic and Microbial Determinants of Skin Lesions in Patients with Persistent Cutaneous Infections
17. Novel splice mutation in CDSN gene causing type b peeling skin syndrome
18. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP
19. Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene
20. 186 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation
21. 185 GJB2 mutations in patients with ichthyosis follicularis and histopathology of porokeratotic adnexal ostial nevus
22. 184 Whole-transcriptome analysis by RNA-Seq for genetic diagnosis of Mendelian skin disorders in the context of consanguinity
23. 172 Inherited STK4/MST1 deficiency in two unrelated families with atypical epidermodysplasia verruciformis
24. 174 Knock-down of SDR9C7 impairs epidermal barrier function
25. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
26. 一项关于基因突变及其与不同鱼鳞病类型相关性的研究
27. A study of gene mutations and how they relate to the different types of ichthyosis
28. Management of symptomatic mucosal involvement in paediatric pachyonychia congenita
29. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
30. Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations
31. 307 Homozygous Biallelic KRT5 Mutations in Epidermolysis Bullosa Simplex, Including a Complete Human Keratin 5 “Knock-Out”, in Families with Extensive Consanguinity
32. Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
33. 409 Next generation sequencing-directed treatment in a patient with two co-existing genodermatoses: Acrodermatitis enteropathica (AE) and recessive dystrophic epidermolysis bullosa (RDEB)
34. 410 Pyrin-associated auto-inflammation with neutrophilic dermatosis (PAAND): Novel autosomal recessive MEFV mutation and successful treatment with colchicine
35. 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
36. 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)
37. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation
38. Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
39. 793 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
40. 816 Iranian genetic skin and connective tissue disorders project: Epidermolysis bullosa
41. 796 Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) associated with different subtypes of epidermolysis bullosa
42. 820 Customized gene-targeted next generation sequencing panel identifies a spectrum of mutations in consanguineous families affected by ichthyoses
43. 792 Genomic tools identify overlapping Mendelian disorders and provide rationale for treatment of a patient with concurrent acrodermatitis enteropathica and epidermolysis bullosa
44. Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico
45. First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru
46. Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects
47. 176 A distinct cutaneous blistering phenotype with multi-system manifestations caused by a mutation in CD151, the 20th causative gene in epidermolysis bullosa
48. LB970 ABHD5, the gene associated with Chanarin-Dorfman syndrome, can contribute to non-alcoholic fatty liver disease and dyslipidemia in mutation carriers
49. Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis
50. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.