An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree

por Mehrpour, Masoud, Gohari, Faeze, Dizaji, Majid Zaki, Ahani, Ali, Malicdan, May Christine V., Behnam, Babak
Publicado 2016

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

por Stephen, Joshi, Nampoothiri, Sheela, Vinayan, K. P., Yesodharan, Dhanya, Remesh, Preetha, Gahl, William A., Malicdan, May Christine V.
Publicado 2018

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

por Momma, Kazunari, Noguchi, Satoru, Malicdan, May Christine V., Hayashi, Yukiko K., Minami, Narihiro, Kamakura, Keiko, Nonaka, Ikuya, Nishino, Ichizo
Publicado 2012

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene

por Marek-Yagel, Dina, Abudi-Sinreich, Shachar, Macarov, Michal, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Pode-Shakked, Ben, Malicdan, May Christine V., Anikster, Yair
Publicado 2022

Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

por McFadden, Jason R., Tolete, Christina Deanne P., Huang, Yan, Macnamara, Ellen, Sept, David, Nesterova, Galina, Gahl, William A., Sackett, Dan L., Malicdan, May Christine V.
Publicado 2023

Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens

por Testa, Lauren C., Jule, Yvon, Lundh, Linnea, Bertotti, Karine, Merideth, Melissa A., O'Brien, Kevin J., Nathan, Steven D., Venuto, Drew C., El-Chemaly, Souheil, Malicdan, May Christine V., Gochuico, Bernadette R.
Publicado 2021

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

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

por Shanbhag, Niraj M., Geschwind, Michael D., DiGiovanna, John J., Groden, Catherine, Godfrey, Rena, Yousefzadeh, Matthew J., Wade, Erin A., Niedernhofer, Laura J., Malicdan, May Christine V., Kraemer, Kenneth H., Gahl, William A., Toro, Camilo
Publicado 2018

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

por Rodriguez-Gil, Jorge L., Watkins-Chow, Dawn E., Baxter, Laura L., Yokoyama, Tadafumi, Zerfas, Patricia M., Starost, Matthew F., Gahl, William A., Malicdan, May Christine V., Porter, Forbes D., Platt, Frances M., Pavan, William J.
Publicado 2019

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

por Sharma, Prashant, Reichert, Marie, Lu, Yan, Markello, Thomas C., Adams, David R., Steinbach, Peter J., Fuqua, Brie K., Parisi, Xenia, Kaler, Stephen G., Vulpe, Christopher D., Anderson, Gregory J., Gahl, William A., Malicdan, May Christine V.
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

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

por Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J., O’Brien, Kevin J., Nicoli, Elena-Raluca, Brooks, Brian P., Huryn, Laryssa, Titus, Steven A., Adams, David R., Chen, Dong, Gahl, William A., Gochuico, Bernadette R., Malicdan, May Christine V.
Publicado 2017

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

por Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Publicado 2017

Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

por Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Publicado 2017

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

por Abudi-Sinreich, Shachar, Bodine, Steven P., Yokoyama, Tadafumi, Tolman, Nathanial J., Tyrlik, Michal, Testa, Lauren C., Han, Chen G., Dorward, Heidi M., Wincovitch, Stephen M., Anikster, Yair, Gahl, William A., Cinar, Resat, Gochuico, Bernadette R., Malicdan, May Christine V.
Publicado 2022

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

por Li, Chong, Brazill, Jennifer M., Liu, Sha, Bello, Christofer, Zhu, Yi, Morimoto, Marie, Cascio, Lauren, Pauly, Rini, Diaz-Perez, Zoraida, Malicdan, May Christine V., Wang, Hongbo, Boccuto, Luigi, Schwartz, Charles E., Gahl, William A., Boerkoel, Cornelius F., Zhai, R. Grace
Publicado 2017

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

por Li, Chong, Brazill, Jennifer M., Liu, Sha, Bello, Christofer, Zhu, Yi, Morimoto, Marie, Cascio, Lauren, Pauly, Rini, Diaz-Perez, Zoraida, Malicdan, May Christine V., Wang, Hongbo, Boccuto, Luigi, Schwartz, Charles E., Gahl, William A., Boerkoel, Cornelius F., Zhai, R. Grace
Publicado 2018

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy

por Garland, Jennifer, Stephen, Joshi, Class, Bradley, Gruber, Angela, Ciccone, Carla, Poliak, Aaron, Hayes, Christina P., Singhal, Vandana, Slota, Christina, Perreault, John, Gavrilova, Ralitza, Shrader, Joseph A., Chittiboina, Prashant, Joe, Galen, Heiss, John, Gahl, William A., Huizing, Marjan, Carrillo, Nuria, Malicdan, May Christine V.
Publicado 2017

Abnormal glycosylation in Joubert syndrome type 10

por Kane, Megan S., Davids, Mariska, Bond, Michelle R., Adams, Christopher J., Grout, Megan E., Phelps, Ian G., O’Day, Diana R., Dempsey, Jennifer C., Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A., Doherty, Dan, He, Miao, Malicdan, May Christine V., Gahl, William A., Boerkoel, Cornelius F.
Publicado 2017

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility

por Imani, Jewel, Bodine, Steven P. M., Lamattina, Anthony M., Ma, Diane D., Shrestha, Shikshya, Maynard, Dawn M., Bishop, Kevin, Nwokeji, Arinze, Malicdan, May Christine V., Testa, Lauren C., Sood, Raman, Stump, Benjamin, Rosas, Ivan O., Perrella, Mark A., Handin, Robert, Young, Lisa R., Gochuico, Bernadette R., El-Chemaly, Souheil
Publicado 2022