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Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 4, p. 582, doi. 10.1111/jdv.17873
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- Publication type:
- Article
Diagnosis of Ehlers–Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms.
- Published in:
- British Journal of Dermatology, 2020, v. 182, n. 3, p. 535, doi. 10.1111/bjd.18373
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- Publication type:
- Article
Acral lamellar Ichthyosis – expanding the phenotype of temperature‐sensitive keratinization disorders.
- Published in:
- 2018
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- Publication type:
- Case Study
Identification of mutations in <italic>SDR9C7</italic> in six families with autosomal recessive congenital ichthyosis.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 11, p. 1912, doi. 10.1111/jdv.14242
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- Publication type:
- Article
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
- Published in:
- British Journal of Dermatology, 2017, v. 177, n. 2, p. 445, doi. 10.1111/bjd.15308
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- Publication type:
- Article
Ichthyoses: new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes.
- Published in:
- British Journal of Dermatology, 2017, v. 176, n. 4, p. 863, doi. 10.1111/bjd.15211
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- Publication type:
- Article
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
- Published in:
- British Journal of Dermatology, 2016, v. 174, n. 5, p. 1152, doi. 10.1111/bjd.14328
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- Publication type:
- Article
Two novel mutations in the LOR gene in three families with loricrin keratoderma.
- Published in:
- British Journal of Dermatology, 2015, v. 172, n. 4, p. 1158, doi. 10.1111/bjd.13414
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- Publication type:
- Article
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.
- Published in:
- British Journal of Dermatology, 2015, v. 172, n. 1, p. 257, doi. 10.1111/bjd.13247
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- Publication type:
- Article
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis.
- Published in:
- British Journal of Dermatology, 2014, v. 171, n. 6, p. 1347, doi. 10.1111/bjd.13308
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- Publication type:
- Article
Ehlers-Danlos-like-Syndrom bei einer Katze.
- Published in:
- Schweizer Archiv für Tierheilkunde, 2014, v. 156, n. 11, p. 543, doi. 10.1024/0036-7281/a000645
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- Publication type:
- Article
Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis ( NISCH) syndrome.
- Published in:
- British Journal of Dermatology, 2014, v. 170, n. 4, p. 976, doi. 10.1111/bjd.12724
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- Publication type:
- Article
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2013, v. 27, n. 12, p. 1552, doi. 10.1111/jdv.12079
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- Publication type:
- Article
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
- Published in:
- British Journal of Dermatology, 2013, v. 169, n. 1, p. 115, doi. 10.1111/bjd.12317
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- Publication type:
- Article
Generalisierte erythrosquamöse Dermatose.
- Published in:
- Der Hautarzt, 2012, v. 63, n. 1, p. 47, doi. 10.1007/s00105-011-2277-8
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- Publication type:
- Article
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
- Published in:
- British Journal of Dermatology, 2011, v. 164, n. 2, p. 442, doi. 10.1111/j.1365-2133.2010.10096.x
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- Publication type:
- Article
CADISP-genetics: an International project searching for genetic risk factors of cervical artery dissections.
- Published in:
- International Journal of Stroke, 2009, v. 4, n. 3, p. 224, doi. 10.1111/j.1747-4949.2009.00281.x
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- Publication type:
- Article
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 4, p. 771, doi. 10.1111/j.1365-2133.2008.08999.x
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- Publication type:
- Article
Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 2, p. 446, doi. 10.1111/j.1365-2133.2008.08831.x
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- Publication type:
- Article
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
- Published in:
- British Journal of Dermatology, 2008, v. 159, n. 4, p. 961, doi. 10.1111/j.1365-2133.2008.08772.x
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- Publication type:
- Article
Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis.
- Published in:
- Clinical & Experimental Dermatology, 2008, v. 33, n. 5, p. 578, doi. 10.1111/j.1365-2230.2008.02709.x
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- Publication type:
- Article
Ittiosi a costume da bagno: un fototipo termosensibile.
- Published in:
- European Journal of Pediatric Dermatology, 2008, v. 18, n. 2, p. 75
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- Publication type:
- Article
A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.
- Published in:
- British Journal of Dermatology, 2006, v. 155, n. 5, p. 1064, doi. 10.1111/j.1365-2133.2006.07434.x
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- Publication type:
- Article
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 864, doi. 10.1007/s10038-006-0035-z
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- Publication type:
- Article
Disseminated epidermolytic acanthoma of the scrotum.
- Published in:
- 2004
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- Publication type:
- Abstract
Repigmentierung persistierender laserinduzierter Hypopigmentierungen nach Tätowierungsentfernung mit dem Excimerlaser.
- Published in:
- Der Hautarzt, 2004, v. 55, n. 6, p. 549, doi. 10.1007/s00105-004-0718-3
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- Publication type:
- Article
Persistent erythematous eyelid swelling due to metastatic lobular carcinoma of the breast.
- Published in:
- British Journal of Dermatology, 2002, v. 146, n. 5, p. 919, doi. 10.1046/j.1365-2133.2002.04768.x
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- Publication type:
- Article
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing.
- Published in:
- British Journal of Dermatology, 2002, v. 146, n. 3, p. 495, doi. 10.1046/j.1365-2133.2002.04625.x
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- Publication type:
- Article
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
- Published in:
- British Journal of Dermatology, 2001, v. 144, n. 1, p. 151, doi. 10.1046/j.1365-2133.2001.03966.x
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- Publication type:
- Article
Restriktive Dermopathiey.
- Published in:
- Der Pathologe, 1999, v. 20, n. 6, p. 365, doi. 10.1007/s002920050373
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- Publication type:
- Article
Acute bilateral renal vein thrombosis complicating Netherton syndrome.
- Published in:
- 1998
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- Publication type:
- journal article
Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses.
- Published in:
- 1988
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- Publication type:
- journal article
Eine Methode zur gleichzeitigen Bestimmung von Dielektrizitätskonstante und Leitfähigkeit von leitenden Stoffen bei Hochfrequenz (Zwei-Phasen-Brücke).
- Published in:
- Annalen der Physik, 1935, v. 416, n. 2, p. 127, doi. 10.1002/andp.19354160204
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- Publication type:
- Article