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Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.
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- Pediatric Dermatology, 2023, v. 40, n. 3, p. 466, doi. 10.1111/pde.15306
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- Publication type:
- Article
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene.
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- Pediatric Dermatology, 2014, v. 31, n. 1, p. 83, doi. 10.1111/pde.12219
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- Publication type:
- Article
Hair loss, facial dysmorphology, and skeletal alterations – a diagnostic challenge.
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- International Journal of Dermatology, 2021, v. 60, n. 10, p. e419, doi. 10.1111/ijd.15718
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- Publication type:
- Article
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.
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- Indian Journal of Dermatology, 2014, v. 59, n. 5, p. 476, doi. 10.4103/0019-5154.139884
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- Publication type:
- Article
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
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- Annals of Neurology, 2003, v. 53, n. 4, p. 512
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- Publication type:
- Article
Genexpressionsprofile beim Porokarzinom deuten auf heterogene Tumorentwicklung hin und untermauern Porome als Vorläuferläsionen.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 8, p. 1115, doi. 10.1111/ddg.15445_g
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- Publication type:
- Article
Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 8, p. 1115, doi. 10.1111/ddg.15445
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- Publication type:
- Article
POGLUT1‐Varianten bei Morbus Dowling‐Degos ‐ Assoziation mit spezifischen klinischen und histopathologischen Merkmalen?
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 5, p. 540, doi. 10.1111/ddg.15111_g
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- Publication type:
- Article
Selected genodermatoses – Status quo and future prospects.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 4, p. 337, doi. 10.1111/ddg.15054
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- Publication type:
- Article
Ausgewählte Genodermatosen – Stand der Dinge und Zukunftsaussichten.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 4, p. 337, doi. 10.1111/ddg.15054_g
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- Publication type:
- Article
Phänotypische Vielfalt bei Varianten im TP63‐Gen.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 6, p. 871, doi. 10.1111/ddg.14770_g
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- Article
Phenotype diversity associated with TP63 mutations.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 6, p. 872, doi. 10.1111/ddg.14770
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- Publication type:
- Article
Eine Frau mit hyperpigmentierten Maculae und Papeln.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 11, p. 1655, doi. 10.1111/ddg.14487_g
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- Publication type:
- Article
A woman with hyperpigmented macules and papules.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 11, p. 1656, doi. 10.1111/ddg.14487
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- Publication type:
- Article
Zwei Frauen mit Haarverlust.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 8, p. 845, doi. 10.1111/ddg.13886_g
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- Publication type:
- Article
Two females with hair loss.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 8, p. 845, doi. 10.1111/ddg.13886
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- Publication type:
- Article
Ein neues Forum für seltene Hauterkrankungen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 6, p. 672, doi. 10.1111/ddg.13863
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- Publication type:
- Article
Uncombable hair improved by biotin.
- Published in:
- JEADV Clinical Practice, 2023, v. 2, n. 2, p. 313, doi. 10.1002/jvc2.105
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- Article
The Alopecia Areata Severity and Morbidity Index (ASAMI) Study: Results From a Global Expert Consensus Exercise on Determinants of Alopecia Areata Severity.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 3, p. 341, doi. 10.1001/jamadermatol.2023.5869
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- Publication type:
- Article
A Global eDelphi Exercise to Identify Core Domains and Domain Items for the Development of a Global Registry of Alopecia Areata Disease Severity and Treatment Safety (GRASS).
- Published in:
- 2021
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- Publication type:
- journal article
Insights Into the Biology of Persistent Chemotherapy-Induced Alopecia via Genomic Approaches-An Avenue to Clinical Translation?
- Published in:
- 2020
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- Publication type:
- editorial
The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 2, p. 389, doi. 10.1111/j.1365-2133.2007.08312.x
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- Publication type:
- Article
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?
- Published in:
- 2006
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- Publication type:
- journal article
Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
- Published in:
- Acta Dermato-Venereologica, 2017, v. 97, n. 7, p. 862, doi. 10.2340/00015555-2658
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- Publication type:
- Article
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 4, p. 468, doi. 10.2340/00015555-2304
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- Publication type:
- Article
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 4, p. 473, doi. 10.2340/00015555-2299
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- Publication type:
- Article
Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR.
- Published in:
- Acta Dermato-Venereologica, 2015, v. 95, n. 8, p. 1005, doi. 10.2340/00015555-2104
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- Publication type:
- Article
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 420, doi. 10.1002/humu.24325
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- Publication type:
- Article
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
- Published in:
- Archives of Dermatological Research, 2009, v. 301, n. 8, p. 621, doi. 10.1007/s00403-009-0971-5
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- Publication type:
- Article
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
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- Archives of Dermatological Research, 2009, v. 301, n. 5, p. 391, doi. 10.1007/s00403-008-0903-9
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- Publication type:
- Article
Odd-looking hair and progressive alopecia in mother and son.
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- 2014
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- Publication type:
- journal article
Odd-Looking Hair and Progressive Alopecia in Mother and Son.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 5, p. 567, doi. 10.1001/jamadermatol.2013.8078
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- Publication type:
- Article
Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness.
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- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0256846
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- Publication type:
- Article
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
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- Kidney International, 2001, v. 59, n. 2, p. 434
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- Publication type:
- Article
Ugreelig hår.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2022, v. 142, n. 10, p. 882
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- Publication type:
- Article
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 717, doi. 10.3390/genes14030717
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- Publication type:
- Article
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 80, doi. 10.3390/genes12010080
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- Publication type:
- Article
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 3, p. 303, doi. 10.4103/0378-6323.152744
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- Publication type:
- Article
Generalized Solar Lentigines in a Patient with a History of Radon Exposure.
- Published in:
- Dermatology (10188665), 2010, v. 221, n. 3, p. 206, doi. 10.1159/000316091
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- Publication type:
- Article
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0225943
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- Publication type:
- Article
Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213381
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- Publication type:
- Article
Dermatological diseases from a genetic perspective.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 1, p. 1, doi. 10.1515/medgen-2023-2009
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- Publication type:
- Article
Recent advances in the genetics of alopecia areata.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 1, p. 15, doi. 10.1515/medgen-2023-2004
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- Publication type:
- Article
Identification of mutations in the human hairless gene in two new families with congenital atrichia.
- Published in:
- Archives of Dermatological Research, 2007, v. 299, n. 3, p. 157, doi. 10.1007/s00403-007-0747-8
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- Publication type:
- Article
A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 4, p. 434, doi. 10.1093/ced/llad042
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- Publication type:
- Article
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
- Published in:
- Clinical & Experimental Dermatology, 2022, v. 47, n. 7, p. 1424, doi. 10.1111/ced.15210
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- Publication type:
- Article
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 5966, doi. 10.1038/ncomms6966
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- Publication type:
- Article
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129811
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- Publication type:
- Article
Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- 2009
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- Publication type:
- Correction notice
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 228, doi. 10.1038/ng.276
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- Publication type:
- Article