Detalhe da pesquisa
1.
CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells.
Proc Natl Acad Sci U S A
; 116(52): 26846-26852, 2019 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31818947
2.
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Clin Chem
; 67(6): 876-888, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969388
3.
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Am J Med Genet A
; 185(11): 3390-3400, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435747
4.
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
PLoS Genet
; 10(5): e1004333, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24831815
5.
Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.
J Cell Sci
; 127(Pt 4): 740-51, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357722
6.
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Genet Med
; 18(7): 727-36, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681309
7.
The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa.
AJR Am J Roentgenol
; 207(4): 778-781, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384758
8.
Fatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome.
Pediatr Dermatol
; 33(1): e29-31, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608350
9.
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.
Rev Invest Clin
; 68(3): 143-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27409001
10.
Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-Consensus: Recommendations by an international panel of experts.
J Am Acad Dermatol
; 83(4): 1222-1224, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32682031
11.
Hypertrichosis lanuginosa congenita treated with diode laser epilation during infancy.
Pediatr Dermatol
; 31(4): 529-30, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23025656
12.
Omalizumab for hypersensitive reaction to seminal plasma: A case report.
Allergol Int
; 67(2): 278-279, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821383
13.
[Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia]. / Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X.
Rev Med Chil
; 139(12): 1601-4, 2011 Dec.
Artigo
em Espanhol
| MEDLINE | ID: mdl-22446708
14.
Cutaneous adverse effects due to personal protective measures during COVID-19 pandemic: a study of 101 patients.
Int J Dermatol
; 60(3): 327-331, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320331
15.
A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma.
Acta Dermatovenerol Alp Pannonica Adriat
; 30(1): 47-48, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33765759
16.
Physiotherapy for epidermolysis bullosa: clinical practice guidelines.
Orphanet J Rare Dis
; 16(1): 406, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34593011
17.
BRAF mutations among patients from the Northeast of México with malignant melanoma.
Rev Invest Clin
; 66(3): 288-90, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25695247
18.
The importance of diagnostic imaging of mycetoma in the foot.
Int J Dermatol
; 58(5): 600-604, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565209
19.
Thrombospondin-1 Is a Major Activator of TGF-ß Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.
J Invest Dermatol
; 139(7): 1497-1505.e5, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684555
20.
Epithelial HMGB1 Delays Skin Wound Healing and Drives Tumor Initiation by Priming Neutrophils for NET Formation.
Cell Rep
; 29(9): 2689-2701.e4, 2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775038