Found: 54
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Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 6, p. 1128, doi. 10.1111/pde.14302
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- Publication type:
- Article
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 6, p. e351, doi. 10.1111/pde.12969
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- Publication type:
- Article
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 5, p. e337, doi. 10.1111/pde.12937
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- Publication type:
- Article
Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 5, p. 528, doi. 10.1111/j.1525-1470.2010.01216.x
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- Publication type:
- Article
Endemic Treponemal Infections in International Adoptees and Immigrant Children: How Common are they?
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- Pediatric Dermatology, 2011, v. 28, n. 2, p. 214, doi. 10.1111/j.1525-1470.2011.01397.x
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- Publication type:
- Article
Sustained Remission Without Corticosteroids Among Patients With Pemphigus Who Had Rituximab as First-Line Therapy: Follow-Up of the Ritux 3 Trial.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 3, p. 290, doi. 10.1001/jamadermatol.2023.5679
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- Publication type:
- Article
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
- Published in:
- 2021
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- Publication type:
- journal article
Factors Associated With Short-term Relapse in Patients With Pemphigus Who Receive Rituximab as First-line Therapy: A Post Hoc Analysis of a Randomized Clinical Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?
- Published in:
- 2016
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- Publication type:
- journal article
Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB.
- Published in:
- Acta Dermato-Venereologica, 2022, v. 102, p. 1, doi. 10.2340/actadv.v102.1141
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- Publication type:
- Article
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE.
- Published in:
- Acta Dermato-Venereologica, 2018, v. 98, n. 2, p. 251, doi. 10.2340/00015555-2835
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- Publication type:
- Article
Methotrexate in Severe Childhood Alopecia Areata: Long-term Follow-up.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 1, p. 102, doi. 10.2340/00015555-2173
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- Publication type:
- Article
Burden of Inherited Ichthyosis: A French National Survey.
- Published in:
- Acta Dermato-Venereologica, 2015, v. 95, n. 3, p. 326, doi. 10.2340/00015555-1955
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- Publication type:
- Article
Factors Associated with Impaired Quality of Life in Adult Patients Suffering from Ichthyosis.
- Published in:
- Acta Dermato-Venereologica, 2014, v. 94, n. 3, p. 344, doi. 10.2340/00015555-1710
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- Publication type:
- Article
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 19, doi. 10.1111/cge.13752
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- Publication type:
- Article
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
- Published in:
- 2016
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- Publication type:
- journal article
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2430, doi. 10.1002/humu.23885
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- Publication type:
- Article
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2318, doi. 10.1002/humu.23883
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- Publication type:
- Article
Juvenile Xanthogranuloma and Nevus Anemicus in the Diagnosis of Neurofibromatosis Type 1.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 1, p. 42, doi. 10.1001/jamadermatol.2013.6434
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- Publication type:
- Article
Clinical and immunologic factors associated with bullous pemphigoid relapse during the first year of treatment: a multicenter, prospective study.
- Published in:
- 2014
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- Publication type:
- journal article
Clinical and Immunologic Factors Associated With Bullous Pemphigoid Relapse During the First Year of Treatment A Multicenter, Prospective Study.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 1, p. 25, doi. 10.1001/jamadermatol.2013.5757
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- Publication type:
- Article
Flexural Agminated Eruptive Nevi in Langerhans Cell Histiocytosis.
- Published in:
- JAMA Dermatology, 2013, v. 149, n. 5, p. 635, doi. 10.1001/jamadermatol.2013.3299
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- Publication type:
- Article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213
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- Publication type:
- Article
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 767, doi. 10.1038/sj.ejhg.5201823
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- Publication type:
- Article
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200417
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- Publication type:
- Article
Anti‐BP180 IgG antibody ELISA values correlate with adverse pregnancy outcomes in pemphigoid gestationis.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 6, p. 1207, doi. 10.1111/jdv.18973
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- Publication type:
- Article
Infantile haemangioma in a 17th-century painting.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 4, p. 655, doi. 10.1111/jdv.18833
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- Publication type:
- Article
Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A Novel Missense Mutation, A118E, in the Helix Initiation Motif of the Type II Hair Cortex Keratin hHb6, Causing Monilethrix.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 322, doi. 10.1159/000022936
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- Publication type:
- Article
Childhood Dermatosis due to Microchimerism.
- Published in:
- Dermatology (10188665), 2005, v. 211, n. 4, p. 388, doi. 10.1159/000088521
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- Publication type:
- Article
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
- Published in:
- Nature, 2011, v. 480, n. 7375, p. 94, doi. 10.1038/nature10539
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- Publication type:
- Article
O06 Clinical phenotype of the Klippel-Trenaunay syndrome with mosaic PIK3R1 mutations.
- Published in:
- British Journal of Dermatology, 2024, v. 190, p. i3, doi. 10.1093/bjd/ljad483.006
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- Publication type:
- Article
Vascular endothelial growth factor, tissue factor, coagulation and fibrinolysis markers in slow-flow vascular malformations: a prospective study of treatment with sirolimus.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 1, p. 152, doi. 10.1093/bjd/ljac028
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- Publication type:
- Article
Remembering Marc Larrègue (1935–2007).
- Published in:
- 2008
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- Publication type:
- Obituary
Bi-acromial Dimples: A Series of Seven Cases.
- Published in:
- Pediatric Dermatology, 2005, v. 22, n. 5, p. 412, doi. 10.1111/j.1525-1470.2005.00104.x
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- Publication type:
- Article
Prospective Study of the Evolution of Blood Lymphoid Immune Parameters during Dacarbazine Chemotherapy in Metastatic and Locally Advanced Melanoma Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105907
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- Publication type:
- Article
Health care transition for patients with vascular malformations: a French multicenter cross-sectional study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Quinoline Yellow dye-induced fixed food-and-drug eruption.
- Published in:
- Contact Dermatitis (01051873), 2013, v. 68, n. 3, p. 187, doi. 10.1111/cod.12019
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- Publication type:
- Article
Fixed eruption due to quinine contained in tonic water: positive patch-testing.
- Published in:
- Contact Dermatitis (01051873), 2009, v. 61, n. 4, p. 242, doi. 10.1111/j.1600-0536.2009.01617.x
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- Publication type:
- Article
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265
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- Publication type:
- Article
Diversity of the clinical presentation of the MMR gene biallelic mutations.
- Published in:
- Familial Cancer, 2014, v. 13, n. 1, p. 131, doi. 10.1007/s10689-013-9676-1
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- Publication type:
- Article
ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02054-9
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- Publication type:
- Article
Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2803, doi. 10.1002/ajmg.a.61811
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- Publication type:
- Article
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2509, doi. 10.1002/ajmg.a.40515
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- Publication type:
- Article
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.
- Published in:
- 2016
- By:
- Publication type:
- letter
Prevalence of inherited ichthyosis in France: a study using capture-recapture method.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-1
- By:
- Publication type:
- Article
Next-Generation Sequencing of Nevus Spilus-Type Congenital Melanocytic Nevus: Exquisite Genotype-Phenotype Correlation in Mosaic RASopathies.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 10, p. 2658, doi. 10.1038/jid.2014.195
- By:
- Publication type:
- Article
Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome.
- Published in:
- Scientific Reports, 2015, p. 18001, doi. 10.1038/srep18001
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- Publication type:
- Article
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 581, doi. 10.1111/cge.14511
- By:
- Publication type:
- Article