Recent advances in understanding inherited disorders of keratinization

por Zaki, Theodore, Choate, Keith
Publicado 2018

Recent advances in understanding ichthyosis pathogenesis

por Marukian, Nareh V., Choate, Keith A.
Publicado 2016

Genetic investigation of childhood vascular tumor biology reveals pathways for therapeutic intervention

por Cheraghlou, Shayan, Lim, Young, Choate, Keith
Publicado 2019

Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis

por Ugwu, Nelson, Choate, Keith A., Atzmony, Lihi
Publicado 2020

Cutaneous mosaicism: Special considerations for women

por Ellis, Katharine T., Ovejero, Diana, Choate, Keith A.
Publicado 2021

Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review

por Hong, Emily, Hu, Ronghua, Posligua, Alba, Choate, Keith, Durkin, John R.
Publicado 2022

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation

por Lim, Young, Fereydooni, Arash, Brahmandam, Anand, Dardik, Alan, Choate, Keith, Nassiri, Naiem
Publicado 2020

Clues to primary vismodegib resistance lie in histology and genetics

por Sun, Qisi, Atzmony, Lihi, Zaki, Theodore, Peng, Albert, Sugarman, Jeffrey, Choate, Keith A.
Publicado 2020

Somatic Mosaicism in Blaschkolinear Inflammatory Disorders

por Theodosakis, Nicholas, Levy, Lauren, Cowper, Shawn, Lazova, Rossitza, Kugelman, Lisa, Zubek, Amanda, Choate, Keith
Publicado 2016

Somatic V600E BRAF mutation in linear and sporadic syringocystadenoma papilliferum

por Levinsohn, Jonathan L., Sugarman, Jeffrey L., Bilguvar, Kaya, McNiff, Jennifer M., Choate, Keith A.
Publicado 2015

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation

por Ugwu, Nelson, Atzmony, Lihi, Ellis, Katharine T., Panse, Gauri, Jain, Dhanpat, Ko, Christine J., Nassiri, Naiem, Choate, Keith A.
Publicado 2021

A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency

por Sun, Qisi, Gehlhausen, Jeff R., Freudzon, Marianna, Kibbi, Nour, Bale, Allen, Choate, Keith, Tomayko, Mary, Odell, Ian, Ramachandran, Sarika
Publicado 2021

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

por Dalamón, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belén
Publicado 2016

An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

por Yang, Catherine S, Lu, Yin, Farhi, Anita, Nelson-Williams, Carol, Kashgarian, Michael, Glusac, Earl J, Lifton, Richard P, Antaya, Richard J, Choate, Keith A
Publicado 2012

Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) Conference

por Siegel, Dawn H., Choate, Keith, Drolet, Beth A., Frieden, Ilona J., Teng, Joyce M., Tom, Wynnis, Williams, Mary, Eichenfield, Lawrence F., Paller, Amy S.
Publicado 2014

Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma

por Lim, Young H., Douglas, Stephanie R., Ko, Christine J., Antaya, Richard J., McNiff, Jennifer M., Zhou, Jing, Choate, Keith A., Narayan, Deepak
Publicado 2015

Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib

por Sasaki, Maiko, Jung, Yoonhee, North, Paula, Elsey, Justin, Choate, Keith, Toussaint, Michael Andrew, Huang, Christina, Radi, Rakan, Perricone, Adam J., Corces, Victor G., Arbiser, Jack L.
Publicado 2022

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

por Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.
Publicado 2014

Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

por Levinsohn, Jonathan L., Teng, Joyce, Craiglow, Brittany G., Loring, Erin C., Burrow, T. Andrew, Mane, Shrikant S., Overton, John D., Lifton, Richard P., McNiff, Jennifer M., Lucky, Anne W., Choate, Keith A.
Publicado 2013

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

por Salas-Alanis, Julio C, Wozniak, Eva, Mein, Charles A, Duran Mckinster, Carola C, Ocampo-Candiani, Jorge, Kelsell, David P, Hua, Rong, Garza-Rodriguez, Maria L, Choate, Keith A, Barrera Saldaña, Hugo A
Publicado 2015