| 1 |
Approaches to Photoprotection and Normalization in Highly Adherent Families of Children With Xeroderma Pigmentosum in the United Kingdom.
61
|
Anderson R...Morgan M
|
30741094 |
2020 |
| 2 |
Dyschromatosis Universalis Hereditaria with Hypospadias: A Rare Association.
61
|
Sirka CS...Rout AN
|
32477990 |
2020 |
| 3 |
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.
61
|
Zieman AG...Coulombe PA
|
31021398 |
2020 |
| 4 |
A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.
61
|
Valinotto LE...Manzur GB
|
31957900 |
2020 |
| 5 |
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
61
|
Wei H...Tan EC
|
31846207 |
2020 |
| 6 |
[Incontinentia pigmenti. A descriptive study of experience in two different hospitals].
61
|
Ocana Jaramillo S...Vera Casano A
|
31109788 |
2020 |
| 7 |
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.
61
|
Chong SC...Leung AKC
|
32351751 |
2020 |
| 8 |
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
61
|
van der Velden JJAJ...Steijlen PM
|
31663161 |
2020 |
| 9 |
KID Syndrome: A Rare Genodermatosis.
61
|
Dey VK...Parikh S
|
32055527 |
2020 |
| 10 |
Darier Disease - A Clinical Illustration of Its High Variable Expressivity.
61
|
Beiu C...Hage R
|
31938586 |
2019 |
| 11 |
Michelin Tire Baby Syndrome: A Rare Case with Review of Literature.
61
|
Malik F...Tahir F
|
31696012 |
2019 |
| 12 |
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
61
|
Guerrero-Aspizua S...Del Rio M
|
31340837 |
2019 |
| 13 |
Classic dowling degos disease: a rare genodermatosis.
61
|
Piccolo V...Argenziano G
|
31195785 |
2019 |
| 14 |
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring.
61
|
Tod BM...Visser WI
|
31700856 |
2019 |
| 15 |
A novel approach to the classification of epidermodysplasia verruciformis.
61
|
Huang S...Tyring SK
|
30156265 |
2018 |
| 16 |
Intrafamilial clinical variability in four families with incontinentia pigmenti.
61
|
Mariath LM...Schuler-Faccini L
|
30151858 |
2018 |
| 17 |
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.
61
|
Bartenstein D...Hussain S
|
29742560 |
2018 |
| 18 |
Renal transplantation in Birt-Hogg-Dubé syndrome: should we?
61
|
Coutinho J...Rocha EF
|
30326848 |
2018 |
| 19 |
Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects.
61
|
AlSabbagh MM...Baqi MA
|
29808590 |
2018 |
| 20 |
GAPO syndrome: a rare genodermatosis presenting with unique features.
61
|
Troxell TN...Drew GS
|
29377094 |
2018 |
| 21 |
Reed's Syndrome.
61
|
Almeida FT...Brito MC
|
29937565 |
2018 |
| 22 |
A Rare Syndrome Resembling Scleroderma: Huriez Syndrome.
61
|
Celik NS...Gunes P
|
29765964 |
2018 |
| 23 |
[Renal Transplantation in a patient with Recessive Dystrophic Epidermolysis Bullosa: a case report]
61
|
Saad EJ...De la Fuente JL
|
30130485 |
2018 |
| 24 |
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis.
61
|
Zhao C...Zhang G
|
30859768 |
2018 |
| 25 |
H Syndrome: A Rare Genodermatosis Imaged With 18F-FDG PET/CT.
61
|
Turpin S...Lambert R
|
29189375 |
2018 |
| 26 |
Peeling skin syndrome associated with novel variant in FLG2 gene.
61
|
Alfares A...Al Mutairi F
|
28884927 |
2017 |
| 27 |
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection.
61
|
Ma H...Lai W
|
28635012 |
2017 |
| 28 |
[Epidermolysis bullosa].
61
|
Firing C...Bygum A
|
29208193 |
2017 |
| 29 |
[Monilethrix is a hereditary hair shaft disorder].
61
|
Kirkegaard AO...Bygum A
|
28918778 |
2017 |
| 30 |
Cowden syndrome: clinical case and a brief review.
61
|
Lopes S...Azevedo F
|
29469739 |
2017 |
| 31 |
Comparative study of p16 protein expression in squamous cell carcinomas from patients with epidermodysplasia verruciformis and patients without the disease.
61
|
Mattos MSG...Sotto MN
|
28439661 |
2017 |
| 32 |
Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa.
61
|
Cianfarani F...Odorisio T
|
28460207 |
2017 |
| 33 |
Value of dermoscopy for the diagnosis of monilethrix.
61
|
Baltazard T...Lok C
|
29469711 |
2017 |
| 34 |
Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate.
61
|
Przybyszewska J...Ramot Y
|
28196644 |
2017 |
| 35 |
Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity.
61
|
Xiao-Kai F...Qing S
|
29186243 |
2017 |
| 36 |
Darier disease: A rare genodermatosis.
61
|
Suryawanshi H...Kumar P
|
28932054 |
2017 |
| 37 |
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome.
61
|
Calderon-Castrat X...Ballona R
|
28111777 |
2017 |
| 38 |
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.
61
|
Howard M...Ramsay D
|
28329491 |
2017 |
| 39 |
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
61
|
Zhang J...Yao Z
|
27982466 |
2017 |
| 40 |
Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome.
61
|
Pollinger TH...Gratrix ML
|
28859734 |
2017 |
| 41 |
[Piebaldisme: a rare genodermatosis].
61
|
Debbarh FZ...Mernissi FZ
|
28979623 |
2017 |
| 42 |
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism.
61
|
Al-Saif F...Alhallaf RA
|
28496371 |
2017 |
| 43 |
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome.
61
|
Smigiel R...Wertheim-Tysarowska K
|
28289593 |
2016 |
| 44 |
Kaposi-Juliusberg varicelliform eruption in patients suffering from Darier-White Disease: a case report and review of the literature.
61
|
Molinelli E...Offidani A
|
25502366 |
2016 |
| 45 |
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl.
61
|
Rafatjoo R...Taghdisi Kashani A
|
27602400 |
2016 |
| 46 |
Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.
61
|
Aguilera CA...Barrios ML
|
27688459 |
2016 |
| 47 |
Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa.
61
|
Alexeev V...Igoucheva O
|
27568180 |
2016 |
| 48 |
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.
61
|
Castori M...Forzano F
|
27339777 |
2016 |
| 49 |
Zinsser-Cole-Engman Syndrome: A Rare Case Report.
61
|
Penmatsa C...Radharapu VK
|
27504423 |
2016 |
| 50 |
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report.
61
|
Salman A...Demirkesen C
|
27617521 |
2016 |
