Works matching DE "DYSKERATOSIS congenita"
Results: 141
Grover's Disease after Heart Transplantation: A Case Report.
- Published in:
- Case Reports in Transplantation, 2012, p. 1, doi. 10.1155/2012/126592
- By:
- Publication type:
- Article
Oral potentially malignant disorders: A consensus report from an international seminar on nomenclature and classification, convened by the WHO Collaborating Centre for Oral Cancer.
- Published in:
- Oral Diseases, 2021, v. 27, n. 8, p. 1862, doi. 10.1111/odi.13704
- By:
- Publication type:
- Article
Telomerase Regulation from Beginning to the End.
- Published in:
- Genes, 2016, v. 7, n. 9, p. 64, doi. 10.3390/genes7090064
- By:
- Publication type:
- Article
Dyskeratosis of the Face: A Quiz.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 2, p. 96, doi. 10.2340/00015555-2207
- By:
- Publication type:
- Article
Posterior pharyngeal wall squamous cell carcinoma arising in a patient with dyskeratosis congenita.
- Published in:
- Journal of Laryngology & Otology, 2012, v. 126, n. 12, p. 1299, doi. 10.1017/S0022215112001685
- By:
- Publication type:
- Article
Telomerase RNA biosynthesis and processing.
- Published in:
- Biochemistry (00062979), 2012, v. 77, n. 10, p. 1120, doi. 10.1134/S0006297912100045
- By:
- Publication type:
- Article
Wong-Type Dermatomyositis Showing Porokeratosis-Like Changes (Columnar Dyskeratosis): A Case Report and Review of the Literature.
- Published in:
- Dermatopathology, 2015, v. 2, n. 1, p. 1, doi. 10.1159/000371573
- By:
- Publication type:
- Article
The wide-ranging clinical implications of the short telomere syndromes.
- Published in:
- Internal Medicine Journal, 2016, v. 46, n. 4, p. 393, doi. 10.1111/imj.12868
- By:
- Publication type:
- Article
Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease.
- Published in:
- British Journal of Dermatology, 2012, v. 167, n. 1, p. 210, doi. 10.1111/j.1365-2133.2012.10810.x
- By:
- Publication type:
- Article
Oral and Dental Findings of Dyskeratosis Congenita.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Dyskeratosis Congenita: A Report of Two Cases.
- Published in:
- Case Reports in Dentistry, 2013, p. 1, doi. 10.1155/2013/845125
- By:
- Publication type:
- Article
A Vietnamese case of dyskeratosis congenita.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Hereditary benign intraepithelial dyskeratosis: Is this the first African case?
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Galli‐Galli disease responsive to isotretinoin treatment.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Papular acantholytic dyskeratosis of vulva in setting of Hailey- Hailey.
- Published in:
- International Journal of Dermatology, 2017, v. 56, n. 6, p. e126, doi. 10.1111/ijd.12486
- By:
- Publication type:
- Article
Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease.
- Published in:
- Oman Medical Journal, 2015, v. 30, n. 3, p. 212, doi. 10.5001/omj.2015.44
- By:
- Publication type:
- Article
Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
Dyskeratosis Congenita- Management and Review of Complications: A Case Report.
- Published in:
- Oman Medical Journal, 2013, v. 28, n. 4, p. 281, doi. 10.5001/omj.2013.78
- By:
- Publication type:
- Article
Revesz syndrome.
- Published in:
- Revista Brasileira de Oftalmologia, 2015, v. 74, n. 2, p. 110, doi. 10.5935/0034-7280.20150025
- By:
- Publication type:
- Article
Leukoencephalopathy, cerebral calcifications and cysts: a family study.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 10, p. 1911, doi. 10.1007/s00415-014-7393-9
- By:
- Publication type:
- Article
Cutaneous toxicity of a new BRAF inhibitor, LGX818 (encorafenib).
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A novel missense mutation of the ATP2C1 gene in a Chinese patient with papular acantholytic dermatosis of the anogenital area.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Dyskeratosis congenita: a case repot.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Malrotation of Gut and Hiatus Hernia in a Child with Familial Dyskeratosis Congenita.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Dyskeratosis Congenita.
- Published in:
- JK Science, 2013, v. 15, n. 2, p. 56
- By:
- Publication type:
- Article
Intron retention: a human DKC1 gene common splicing event.
- Published in:
- Biochemistry & Cell Biology, 2013, v. 91, n. 6, p. 506, doi. 10.1139/bcb-2013-0047
- By:
- Publication type:
- Article
Erythrodermic Darier disease associated with metastatic lung adenocarcinoma.
- Published in:
- Dermatology Online Journal, 2020, v. 26, n. 7, p. 1, doi. 10.5070/d3267049555
- By:
- Publication type:
- Article
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.
- Published in:
- 2014
- By:
- Publication type:
- Report
Progression of penile cutaneous horn to squamous cell carcinoma: A case report.
- Published in:
- Oncology Letters, 2014, v. 8, n. 3, p. 1211, doi. 10.3892/ol.2014.2247
- By:
- Publication type:
- Article
The Guardian of the Genome Revisited: p53 Downregulates Genes Required for Telomere Maintenance, DNA Repair, and Centromere Structure.
- Published in:
- Cancers, 2018, v. 10, n. 5, p. 135, doi. 10.3390/cancers10050135
- By:
- Publication type:
- Article
Incidental Cutaneous Reaction Patterns: Epidermolytic Hyperkeratosis, Acantholytic Dyskeratosis, and Hailey-Hailey-Like Acantholysis: A Potential Marker of Premalignant Skin Change.
- Published in:
- Journal of Skin Cancer, 2011, p. 1, doi. 10.1155/2011/645743
- By:
- Publication type:
- Article
Crusted Papules in a Linear Distribution on the Leg of an Adult Woman.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Clinical utility gene card for: Dyskeratosis congenita - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.170
- By:
- Publication type:
- Article
X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.
- Published in:
- Indian Journal of Dermatology, 2024, v. 69, n. 1, p. 95, doi. 10.4103/ijd.ijd_556_23
- By:
- Publication type:
- Article
Highly atypical myeloblasts in acute myeloid leukaemia with myelodysplasia‐related changes in a patient with short telomere syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.
- Published in:
- British Journal of Haematology, 2018, v. 183, n. 1, p. 110, doi. 10.1111/bjh.15495
- By:
- Publication type:
- Article
Reconsidering the indication of haematopoietic stem cell transplantation for dyskeratosis congenita.
- Published in:
- British Journal of Haematology, 2018, v. 183, n. 1, p. 11, doi. 10.1111/bjh.15493
- By:
- Publication type:
- Article
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
- Published in:
- British Journal of Haematology, 2015, v. 170, n. 4, p. 457, doi. 10.1111/bjh.13442
- By:
- Publication type:
- Article
Response to androgen therapy in patients with dyskeratosis congenita.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 3, p. 349, doi. 10.1111/bjh.12748
- By:
- Publication type:
- Article
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.
- Published in:
- British Journal of Haematology, 2013, v. 163, n. 1, p. 81, doi. 10.1111/bjh.12475
- By:
- Publication type:
- Article
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
- Published in:
- British Journal of Haematology, 2013, v. 162, n. 4, p. 542, doi. 10.1111/bjh.12399
- By:
- Publication type:
- Article
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.
- Published in:
- British Journal of Haematology, 2012, v. 159, n. 5, p. 498, doi. 10.1111/bjh.12088
- By:
- Publication type:
- Article
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, <i>RTEL1</i>, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003695
- By:
- Publication type:
- Article
Disqueratosis congénita.
- Published in:
- Dermatología Revista Mexicana, 2011, v. 55, n. 5, p. 296
- By:
- Publication type:
- Article
Anaesthesia recommendations for Dyskeratosis congenita.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S20, doi. 10.19224/ai2023.S020
- By:
- Publication type:
- Article
Anaesthesia recommendations for Dyskeratosis congenita.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 2, p. S20, doi. 10.19224/ai2023.S020
- By:
- Publication type:
- Article
Dyskeratosis Congenita Dermal Fibroblasts are Defective in Supporting the Clonogenic Growth of Epidermal Keratinocytes.
- Published in:
- Aging & Disease, 2012, v. 3, n. 6, p. 427
- By:
- Publication type:
- Article
Dyskeratosis Congenita Dermal Fibroblasts are Defective in Supporting the Clonogenic Growth of Epidermal Keratinocytes.
- Published in:
- Aging & Disease, 2012, v. 3, n. 3, p. 427
- By:
- Publication type:
- Article