High prevalence of atypical delayed enhancement in alkaptonuria

por Chen, Marcus Y, Shanbhag, Sujata M, Patricia Bandettini, W, Kellman, Peter, Sachdev, Vandana, Arai, Andrew E, Introne, Wendy J
Publicado 2014

The neuropsychological phenotype of Chediak-Higashi disease

por Shirazi, Talia N., Snow, Joseph, Ham, Lillian, Raglan, Greta B., Wiggs, Edythe A., Summers, Angela C., Toro, Camilo, Introne, Wendy J.
Publicado 2019

OR19-4 High Prevalence of Primary Hypothyroidism in Patients with Alkaptonuria Eighteen Years of Experience

por Avadhanula, Shirisha, Introne, Wendy, Soldin, Steven, Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando, Burman, Kenneth, Klubo-Gwiezdzinska, Joanna
Publicado 2019

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

por Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K., Cox, Gerald F., Deshpande, Charu, Introne, Wendy J., Gahl, William A., Smith, Ann C. M., Huizing, Marjan
Publicado 2011

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

por Wang, Le, Kantovitz, Kamila Rosamilia, Cullinane, Andrew Robert, Nociti, Francisco Humberto, Foster, Brian Lee, Roney, Joseph Concepcion, Tran, Anne Bich, Introne, Wendy Jewell, Somerman, Martha Joan
Publicado 2014

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

por Weisfeld-Adams, James D, Mehta, Lakshmi, Rucker, Janet C, Dembitzer, Francine R, Szporn, Arnold, Lublin, Fred D, Introne, Wendy J, Bhambhani, Vikas, Chicka, Michael C, Cho, Catherine
Publicado 2013

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

por Gil-Krzewska, Aleksandra, Saeed, Mezida B., Oszmiana, Anna, Fischer, Elizabeth R., Lagrue, Kathryn, Gahl, William A., Introne, Wendy J., Coligan, John E., Davis, Daniel M., Krzewski, Konrad
Publicado 2018

Assessment of Thyroid Function in Patients With Alkaptonuria

por Avadhanula, Shirisha, Introne, Wendy J., Auh, Sungyoung, Soldin, Steven J., Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando C., Burman, Kenneth D., Klubo-Gwiezdzinska, Joanna
Publicado 2020

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

por Power, Bradley, Ferreira, Carlos R., Chen, Dong, Zein, Wadih M., O’Brien, Kevin J., Introne, Wendy J., Stephen, Joshi, Gahl, William A., Huizing, Marjan, Malicdan, May Christine V., Adams, David R., Gochuico, Bernadette R.
Publicado 2019

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

por Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S., Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A., Introne, Wendy J., Malicdan, May Christine V.
Publicado 2023

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

por Malechka, Volha V., Duong, Dat, Bordonada, Keyla D., Turriff, Amy, Blain, Delphine, Murphy, Elizabeth, Introne, Wendy J., Gochuico, Bernadette R., Adams, David R., Zein, Wadih M., Brooks, Brian P., Huryn, Laryssa A., Solomon, Benjamin D., Hufnagel, Robert B.
Publicado 2022

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients

por Chiang, Samuel C. C., Wood, Stephanie M., Tesi, Bianca, Akar, Himmet Haluk, Al-Herz, Waleed, Ammann, Sandra, Belen, Fatma Burcu, Caliskan, Umran, Kaya, Zühre, Lehmberg, Kai, Patiroglu, Turkan, Tokgoz, Huseyin, Ünüvar, Ayşegül, Introne, Wendy J., Henter, Jan-Inge, Nordenskjöld, Magnus, Ljunggren, Hans-Gustaf, Meeths, Marie, Ehl, Stephan, Krzewski, Konrad, Bryceson, Yenan T.
Publicado 2017

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

por Adams, David R., Menezes, Supriya, Jauregui, Ramon, Valivullah, Zaheer M., Power, Bradley, Abraham, Maria, Jeffrey, Brett G., Garced, Angel, Alur, Ramakrishna P., Cunningham, Denise, Wiggs, Edythe, Merideth, Melissa A., Chiang, Pei-Wen, Bernstein, Shanna, Ito, Shosuke, Wakamatsu, Kazumasa, Jack, Rhona M., Introne, Wendy J., Gahl, William A., Brooks, Brian P.
Publicado 2019

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

por Morimoto, Marie, Bhambhani, Vikas, Gazzaz, Nour, Davids, Mariska, Sathiyaseelan, Paalini, Macnamara, Ellen F., Lange, Jennifer, Lehman, Anna, Zerfas, Patricia M., Murphy, Jennifer L., Acosta, Maria T., Wang, Camille, Alderman, Emily, Reichert, Sara, Thurm, Audrey, Adams, David R., Introne, Wendy J., Gorski, Sharon M., Boerkoel, Cornelius F., Gahl, William A., Tifft, Cynthia J., Malicdan, May Christine V.
Publicado 2023