Zobrazeno 1 - 8
of 8
pro vyhledávání: '"O. F. Chacon-Camacho"'
Autor:
R. Villafuerte-De la Cruz, O. F. Chacon-Camacho, A. C. Rodriguez-Martinez, N. Xilotl-De Jesus, R. Arce-Gonzalez, C. Rodriguez-De la Torre, J. E. Valdez-Garcia, A. Rojas-Martinez, J. C. Zenteno
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD)
Externí odkaz:
https://doaj.org/article/0907b4bd13b540dfacbfde584d291a32
Autor:
M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a fem
Externí odkaz:
https://doaj.org/article/d11ae94a2843476791ee20c0de042b43
Autor:
Hanna H; Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kaisa K; Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kristiina A; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital. Department of Medical Genetics, University of Turku and Turku University Hospital, Helsinki, Finland.; Department of Clinical Genetics, ERN Ithaca, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sirpa K; Department of Clinical Genetics, ERN Ithaca, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Leila J; Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sinikka S; Department of Plastic Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Päivi S; Department of Pediatric Surgery, HUS Rare Diseases Center, VASCERN VASCA European Reference Centre, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Katariina HJ; Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2024 Dec 07. Date of Electronic Publication: 2024 Dec 07.
Autor:
Yongbo Yu1, Houfei Shang1, Zhenhui Du2,3, Nan Gao1,2 ngao@hebut.edu.cn, Jinyi Li4, Zhaozong Meng1, Zonghua Zhang1
Publikováno v:
Spectroscopy. 2022 Supplement, Vol. 37, p42-48. 7p.
Publikováno v:
Nanoscale Horizons; Nov2022, Vol. 7 Issue 11, p1259-1278, 20p
Autor:
Quiroz-Casian, Natalia, Chacon-Camacho, Oscar F., Barragan-Arevalo, Tania, Nava-Valdez, Jessica, Lieberman, Esther, Salgado-Medina, Acatzin, Navas, Alejandro, Graue-Hernandez, Enrique O., Zenteno, Juan C.
Publikováno v:
Cornea: The Journal of Cornea & External Disease; Sep2018, Vol. 37 Issue 9, p1178-1181, 4p
Publikováno v:
Pediatrics Week; 11/10/2023, p573-573, 1p
Autor:
Enrique J de la Rosa, Thomas G Cotter
Sight loss and blindness is a very prevalent cause of disability. Retinal diseases leading to visual loss affect many people worldwide and the search for adequate drugs remains a challenge and an important area of interest in the drug discovery field
