Works matching DE "ROTHMUND-Thomson syndrome"
Results: 60
Two histopathological patterns of postinflammatory hyperpigmentation: epidermal and dermal.
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- Journal of Cutaneous Pathology, 2017, v. 44, n. 2, p. 118, doi. 10.1111/cup.12849
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- Article
The DNA Helicase Recql4 Is Required for Normal Osteoblast Expansion and Osteosarcoma Formation.
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- PLoS Genetics, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.pgen.1005160
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- Article
Oral manifestations in Kindler syndrome: case report and discussion of literature findings.
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- 2016
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- Publication type:
- journal article
Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report.
- Published in:
- 2015
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- Publication type:
- Case Study
Giant congenital facial melanocytic nevus.
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- Oman Journal of Ophthalmology, 2018, v. 11, n. 3, p. 265, doi. 10.4103/ojo.OJO_216_2017
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- Article
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18
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- Article
A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.
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- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 11, p. e159, doi. 10.1111/jdv.13466
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- Article
RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 6, p. 1077, doi. 10.1002/jbmr.2436
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- Article
Minocycline-induced hyperpigmentation.
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- QJM: An International Journal of Medicine, 2017, v. 110, n. 5, p. 323, doi. 10.1093/qjmed/hcx051
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- Article
Rothmund–Thomson syndrome: anaesthesia considerations.
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- 2016
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- Case Study
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
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- British Journal of Dermatology, 2017, v. 176, n. 2, p. 534, doi. 10.1111/bjd.14845
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- Article
An in vivo model for postinflammatory hyperpigmentation: an analysis of histological, spectroscopic, colorimetric and clinical traits.
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- British Journal of Dermatology, 2016, v. 174, n. 4, p. 862, doi. 10.1111/bjd.14184
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- Article
In vivo model for postinflammatory hyperpigmentation: a step forward.
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- British Journal of Dermatology, 2016, v. 174, n. 4, p. 721, doi. 10.1111/bjd.14333
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- Article
Demographic and clinical differences between unilateral and bilateral forms of naevoid telangiectasia: a retrospective study with review of the literature.
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- British Journal of Dermatology, 2015, v. 172, n. 6, p. 1651, doi. 10.1111/bjd.13615
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- Article
Chronic cutaneous graft‐versus‐host disease in children: A report of 14 patients from a tertiary care pediatric dermatology clinic.
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- Pediatric Dermatology, 2018, v. 35, n. 3, p. 343, doi. 10.1111/pde.13432
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- Article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
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- Clinical Genetics, 2015, v. 87, n. 3, p. 244, doi. 10.1111/cge.12361
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- Article
A typical red neck.
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- 2019
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- Case Study
Genetic Disorder Reference Sheet: RECQL4.
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- ONS Voice, 2024, p. 1
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- Article
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.
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- 2015
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- Publication type:
- journal article
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
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- Journal of Clinical Immunology, 2018, v. 38, n. 4, p. 494, doi. 10.1007/s10875-018-0508-9
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- Article
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
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- Journal of Clinical Immunology, 2017, v. 37, n. 4, p. 357, doi. 10.1007/s10875-017-0385-7
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- Article
Viva questions from the IJDVL.
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- 2015
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- Question & Answer
Rothmund – Thomson syndrome with bronchiectasis: An uncommon phenotype?
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- 2015
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- Letter to the Editor
Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.
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- Journal of Law, Medicine & Ethics, 2015, v. 43, n. 3, p. 529, doi. 10.1111/jlme.12295
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- Article
Oral Findings of Rothmund-Thomson Syndrome.
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- Case Reports in Dentistry, 2013, p. 1, doi. 10.1155/2013/935716
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- Article
A case of hyperpigmentation and acanthosis nigricans by testosterone injections.
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- Human & Experimental Toxicology, 2014, v. 33, n. 12, p. 1297, doi. 10.1177/0960327113514099
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- Article
RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex.
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- Carcinogenesis, 2014, v. 35, n. 11, p. 2415, doi. 10.1093/carcin/bgu137
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- Article
A Rare Case Report of Rothmund Thomson Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Meeting abstracts from the 11th European Cytogenetics Conference: late breaking abstracts.
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- 2017
- Publication type:
- Abstract
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
- Published in:
- 2015
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- Publication type:
- journal article
Editors' Picks.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 6, p. 1495, doi. 10.1038/jid.2014.181
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- Article
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
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- Journal of Clinical Investigation, 2014, v. 124, n. 8, p. 3551, doi. 10.1172/JCI75334
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- Article
How to identify pediatric cerebral and pulmonary arteriovenous malformation earlier: non-hereditary hemorrhagic telangiectasia case.
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- Child's Nervous System, 2015, v. 31, n. 2, p. 337, doi. 10.1007/s00381-014-2507-3
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- Article
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
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- 2017
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- Publication type:
- journal article
Adermatoglyphia in the era of biometrics.
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- Indian Journal of Dermatology, 2022, v. 67, n. 4, p. 465, doi. 10.4103/ijd.ijd_54_21
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- Article
Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families.
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- Indian Journal of Dermatology, 2021, v. 66, n. 2, p. 220, doi. 10.4103/ijd.IJD_63_20
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- Article
IJD WINDOW.
- Published in:
- 2016
- Publication type:
- Image
Poikiloderma Vasculare Atrophicans: A Distinct Clinical Entity?
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- Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152566
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- Article
Melasma-like hyperpigmentation induced by intense pulsed light treatment in Chinese individuals.
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- Journal of Cosmetic & Laser Therapy, 2014, v. 16, n. 6, p. 296, doi. 10.3109/14764172.2014.953417
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- Article
Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome.
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- 2018
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- Publication type:
- Case Study
Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.
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- 2015
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- Publication type:
- Case Study
Rothmund syndrome.
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- 2015
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- Publication type:
- Case Study
Pitted Depressions on the Hands and Elbows.
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- 2021
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- Publication type:
- Case Study
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 359, doi. 10.1002/mgg3.209
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- Article
Treatment of the Poikilodermatous Component of the Rothmund-Thomson Syndrome with the Flashlamp-Pumped Pulsed Dye Laser: A Case Report.
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- Pediatric Dermatology, 1991, v. 8, n. 2, p. 162, doi. 10.1111/j.1525-1470.1991.tb00310.x
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- Article
Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report.
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- International Journal of Dermatology, 2016, v. 55, n. 4, p. 460, doi. 10.1111/ijd.12723
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- Article
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome.
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- Clinical & Experimental Dermatology, 2015, v. 40, n. 2, p. 227, doi. 10.1111/ced.12476
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- Article
Kindler syndrome with severe mucosal involvement in childhood.
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- Clinical & Experimental Dermatology, 2014, v. 39, n. 3, p. 340, doi. 10.1111/ced.12293
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- Publication type:
- Article
Rothmund-Thomson syndrome, a disorder far from solved.
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- Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fragi.2023.1296409
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- Article
WHAT IS YOUR DIAGNOSIS?
- Published in:
- Pediatric Oncall Journal, 2016, v. 13, n. 4, p. 112, doi. 10.7199/ped.oncall.2016.46
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- Article