Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

por Colombo, Elisa A, Bazan, J Fernando, Negri, Gloria, Gervasini, Cristina, Elcioglu, Nursel H, Yucelten, Deniz, Altunay, Ilknur, Cetincelik, Umram, Teti, Anna, Del Fattore, Andrea, Luciani, Matteo, Sullivan, Spencer K, Yan, Albert C, Volpi, Ludovica, Larizza, Lidia
Publicado 2012

A combination of HLA-DP α and β chain polymorphisms paired with a SNP in the DPB1 3’ UTR region, denoting expression levels, are associated with atopic dermatitis

por Margolis, David J., Duke, Jamie L., Mitra, Nandita, Berna, Ronald A., Hoffstad, Ole J., Wasserman, Jenna R., Dinou, Amalia, Damianos, Georgios, Kotsopoulou, Ioanna, Tairis, Nikolaos, Ferriola, Deborah A., Mosbruger, Timothy L., Hayeck, Tristan J., Yan, Albert C., Monos, Dimitri S.
Publicado 2023

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

por McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A
Publicado 2013