Found: 44
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Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug‐induced associations.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 1, p. 47, doi. 10.1111/jdv.18608
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- Publication type:
- Article
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1706, doi. 10.1002/humu.24434
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- Publication type:
- Article
Ichthyosis follicularis syndromes in patients with mutations in GJB2.
- Published in:
- Clinical & Experimental Dermatology, 2022, v. 47, n. 8, p. 1561, doi. 10.1111/ced.15217
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- Article
Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series.
- Published in:
- Dermatologic Therapy, 2022, v. 35, n. 7, p. 1, doi. 10.1111/dth.15515
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- Publication type:
- Article
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
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- Pediatric Dermatology, 2022, v. 39, n. 4, p. 590, doi. 10.1111/pde.14976
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- Publication type:
- Article
Whole‐transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late‐onset segmental Darier disease.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 6, p. 943, doi. 10.1111/exd.14559
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- Publication type:
- Article
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI).
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- Experimental Dermatology, 2022, v. 31, n. 6, p. 949, doi. 10.1111/exd.14562
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- Publication type:
- Article
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 4, p. 1, doi. 10.1371/journal.pgen.1010192
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- Article
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
- Published in:
- 2021
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- Publication type:
- journal article
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3390, doi. 10.1002/ajmg.a.62456
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- Publication type:
- Article
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 6, p. 876, doi. 10.1093/clinchem/hvab042
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78344-9
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- Publication type:
- Article
Increased level of cathelicidin (LL‐37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 12, p. 1176, doi. 10.1111/exd.14200
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- Publication type:
- Article
Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases.
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- Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.14194
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- Publication type:
- Article
Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
- Published in:
- Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.14493
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- Publication type:
- Article
Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.
- Published in:
- Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.14375
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- Publication type:
- Article
CD147 inhibitors as a treatment for melanoma: Promising agents against SARS‐CoV‐2 infection.
- Published in:
- Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.14449
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- Publication type:
- Article
Association of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligo.
- Published in:
- International Journal of Immunogenetics, 2020, v. 47, n. 4, p. 342, doi. 10.1111/iji.12476
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- Publication type:
- Article
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 7, p. 580, doi. 10.1111/exd.14104
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- Publication type:
- Article
Linear basal cell nevus with a novel mosaic PTCH1 mutation.
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- Experimental Dermatology, 2020, v. 29, n. 6, p. 531, doi. 10.1111/exd.14101
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- Publication type:
- Article
Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 906, doi. 10.1002/humu.23980
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- Publication type:
- Article
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).
- Published in:
- 2020
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- Publication type:
- Letter
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, p. 177, doi. 10.2340/00015555-3431
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- Publication type:
- Article
Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.975
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- Publication type:
- Article
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1118, doi. 10.1111/exd.13501
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- Publication type:
- Article
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1547, doi. 10.1002/ajmg.a.61260
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- Publication type:
- Article
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
- Published in:
- 2019
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- Publication type:
- journal article
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
- Published in:
- Clinical Infectious Diseases, 2019, v. 68, n. 11, p. 1938, doi. 10.1093/cid/ciy942
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- Publication type:
- Article
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 288, doi. 10.1002/humu.23695
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- Publication type:
- Article
A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
- Published in:
- Human Mutation, 2019, v. 40, n. 2, p. 217, doi. 10.1002/humu.23686
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- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
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- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
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- Publication type:
- Article
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1349, doi. 10.1002/humu.23592
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- Publication type:
- Article
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
- Published in:
- 2018
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- Publication type:
- Case Study
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
- Published in:
- 2017
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- Publication type:
- journal article
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
- Published in:
- 2017
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- Publication type:
- Case Study
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 10, p. 1215, doi. 10.1515/jpem-2016-0096
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- Publication type:
- Article
Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa.
- Published in:
- 2016
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- Publication type:
- editorial
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
- Published in:
- Experimental Dermatology, 2016, v. 25, n. 1, p. 17, doi. 10.1111/exd.12826
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- Publication type:
- Article
The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 5, p. 1447, doi. 10.1038/jid.2015.9
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- Publication type:
- Article
Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 5, p. 1450, doi. 10.1038/jid.2015.15
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- Publication type:
- Article
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 3, p. 220, doi. 10.1111/exd.12620
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- Publication type:
- Article
Potential Functions of the Human Homeobox TGIFLX/Y Genes in Normal and Abnormal Development.
- Published in:
- European Journal of Clinical & Medical Oncology, 2012, v. 4, n. 1, p. 23
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- Publication type:
- Article