Works matching DE "TRICHOTHIODYSTROPHY syndromes"
Results: 28
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
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- Archives of Dermatological Research, 2017, v. 309, n. 10, p. 773, doi. 10.1007/s00403-017-1780-x
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- Article
Trichothiodystrophy Identified in a Child with an Odontogenic Infection.
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- Journal of Dentistry for Children, 2024, v. 19, n. 3, p. 146
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- Article
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18
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- Article
Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair.
- Published in:
- 2021
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- Publication type:
- Case Study
Animals in Dermatology.
- Published in:
- Indian Journal of Dermatology, 2024, v. 69, n. 4, p. 333, doi. 10.4103/ijd.ijd_502_23
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- Article
Nucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.
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- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-373
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- Article
No thumbs up for the boy!
- Published in:
- Malaysian Family Physician, 2018, v. 13, n. 2, p. 45
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- Article
Purple urine bag syndrome: A startling phenomenon of purple urine in a urine drainage bag. A primary care approach and literature review.
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- Malaysian Family Physician, 2018, v. 13, n. 2, p. 42
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- Article
Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype.
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- Journal of Investigative Dermatology, 2015, v. 135, n. 3, p. 734, doi. 10.1038/jid.2014.440
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- Article
Oxidative and Energy Metabolism as Potential Clues for Clinical Heterogeneity in Nucleotide Excision Repair Disorders.
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- Journal of Investigative Dermatology, 2015, v. 135, n. 2, p. 341, doi. 10.1038/jid.2014.365
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- Article
Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings.
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- International Journal of Trichology, 2018, v. 10, n. 3, p. 135, doi. 10.4103/ijt.ijt_63_17
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- Article
Trichothiodystrophy: Role of a Dermato-Trchologist.
- Published in:
- 2013
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- Publication type:
- Letter
DNA Repair Dysfunction and Neurodegeneration.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 3, p. 392, doi. 10.1177/0883073815592221
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- Article
A comparison of FreeSurfer-generated data with and without manual intervention.
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- Frontiers in Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnins.2015.00379
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- Article
Dynamic Partnership between TFIIH, PGC-1α and SIRT1 Is Impaired in Trichothiodystrophy.
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- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004732
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- Article
Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.
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- Photodermatology, Photoimmunology & Photomedicine, 2016, v. 32, n. 2, p. 110, doi. 10.1111/phpp.12225
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- Article
British Photodermatology Group Orals.
- Published in:
- 2016
- Publication type:
- Abstract
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0723-5
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- Article
Análisis de estafas de pacientes en la prensa española. El caso de Paco Sanz, el hombre de los 2.000 tumores y el caso de Nadia, la niña con tricodistrofia.
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- Revista Espanola de Comunicacion en Salud, 2018, v. 9, n. 1, p. 5, doi. 10.20318/recs.2018.4256
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- Article
Trichothiodystrophy: A rare association of brittle hair, ichthyosis, and epilepsy.
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- Indian Journal of Paediatric Dermatology, 2018, v. 19, n. 4, p. 357, doi. 10.4103/ijpd.IJPD_130_17
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- Article
Collodion Baby with TGM1 gene mutation.
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- International Medical Case Reports Journal, 2015, v. 8, p. 205, doi. 10.2147/IMCRJ.S91517
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- Article
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation.
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- 2017
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- Publication type:
- Case Study
Colossal squamous cell carcinoma of the face in a child with Xeroderma Pigmentosum.
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- 2014
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- Publication type:
- Letter to the Editor
Hypomyelinating leukodystrophy and movement disorders.
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- Annals of Movement Disorders, 2023, v. 6, n. 2, p. 58, doi. 10.4103/aomd.aomd_1_23
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- Publication type:
- Article
Polarized transilluminating dermoscopy.
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- Pediatric Dermatology, 2018, v. 35, n. 1, p. 150, doi. 10.1111/pde.13346
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- Article
Polarized transilluminating dermoscopy: Bedside trichoscopic diagnosis of trichothiodystrophy.
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- Pediatric Dermatology, 2018, v. 35, n. 1, p. 147, doi. 10.1111/pde.13290
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- Article
Clinical, Microscopic and Ultrastructural Findings in a Case of Short Anagen Syndrome.
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- Pediatric Dermatology, 2017, v. 34, n. 4, p. e221, doi. 10.1111/pde.13175
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- Article
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5
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- Publication type:
- Article