Vaginal sarcoidosis without other organ involvement in a patient with a history of endometrial cancer: A case report

por Knisely, A.T., Girton, M.R., Hintz, H.C., Modesitt, S.C.
Publicado 2018

Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

por Narchi, Hassib, Alhefeiti, Suhailah, Althabahi, Fatmah, Hertecant, Jozef, Knisely, A. S., Souid, Abdul-Kader
Publicado 2017

Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid

por Zhang, Mei-Hong, Knisely, A. S., Wang, Neng-li, Gong, Jing-Yu, Wang, Jian-She
Publicado 2016

Recurrent acute liver failure associated with novel SCYL1 mutation: A case report

por Li, Jia-Qi, Gong, Jing-Yu, Knisely, A S, Zhang, Mei-Hong, Wang, Jian-She
Publicado 2019

Premature birth associated with a favorable course in gestational alloimmune liver disease (GALD): A case report

por Mulzer, Linda-Marie, Reutter, Heiko, Jüngert, Jörg, Knisely, A. S., Schmid, Margit, Hoerning, André, Morhart, Patrick
Publicado 2023

Primary Biliary Cirrhosis-Specific Antimitochondrial Antibodies in Neonatal Haemochromatosis

por Smyk, Daniel S., Mytilinaiou, Maria G., Grammatikopoulos, Tassos, Knisely, A. S., Mieli-Vergani, Giorgina, Bogdanos, Dimitrios P., Vergani, Diego
Publicado 2013

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy

por Dixon, Peter H., Sambrotta, Melissa, Chambers, Jennifer, Taylor-Harris, Pamela, Syngelaki, Argyro, Nicolaides, Kypros, Knisely, A. S., Thompson, Richard J., Williamson, Catherine
Publicado 2017

Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report

por Czubkowski, Piotr, Thompson, Richard J, Jankowska, Irena, Knisely, A S, Finegold, Milton, Parsons, Pamela, Cielecka-Kuszyk, Joanna, Strautnieks, Sandra, Pawłowska, Joanna, Bull, Laura N
Publicado 2021

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

por Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.
Publicado 2013

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

por Li, Jia-Qi, Qiu, Yi-Ling, Gong, Jing-Yu, Dou, Li-Min, Lu, Yi, Knisely, A. S., Zhang, Mei-Hong, Luan, Wei-Sha, Wang, Jian-She
Publicado 2017

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11

por McKay, Kirsten E, Bruce, Christopher K, Hartley, Jane L, Knisely, A S, Baumann, Ulrich, Bockisch, Sonja-Stephanie, Sturm, Ekkehard, Hendriksz, Christian J, Kelly, Deidre A, Macdonald, Fiona, Gissen, Paul
Publicado 2013

ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization

por Bruurs, Lucas J.M., Donker, Lisa, Zwakenberg, Susan, Zwartkruis, Fried J., Begthel, Harry, Knisely, A.S., Posthuma, George, van de Graaf, Stan F.J., Paulusma, Coen C., Bos, Johannes L.
Publicado 2015

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

por Fang, Wei-Yuan, Abuduxikuer, Kuerbanjiang, Shi, Peng, Qiu, Yi-Ling, Zhao, Jing, Li, Yu-Chuan, Zhang, Xue-Yuan, Wang, Neng-Li, Xie, Xin-Bao, Lu, Yi, Knisely, A S, Wang, Jian-She
Publicado 2021

Vps33b is crucial for structural and functional hepatocyte polarity

por Hanley, Joanna, Dhar, Dipok Kumar, Mazzacuva, Francesca, Fiadeiro, Rebeca, Burden, Jemima J., Lyne, Anne-Marie, Smith, Holly, Straatman-Iwanowska, Anna, Banushi, Blerida, Virasami, Alex, Mills, Kevin, Lemaigre, Frédéric P., Knisely, A.S., Howe, Steven, Sebire, Neil, Waddington, Simon N., Paulusma, Coen C., Clayton, Peter, Gissen, Paul
Publicado 2017

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

por Neřoldová, Magdaléna, Ciara, Elżbieta, Slatinská, Janka, Fraňková, Soňa, Lišková, Petra, Kotalová, Radana, Globinovská, Janka, Šafaříková, Markéta, Pfeiferová, Lucie, Zůnová, Hana, Mrázová, Lenka, Stránecký, Viktor, Vrbacká, Alena, Fabián, Ondřej, Sticová, Eva, Skanderová, Daniela, Šperl, Jan, Kalousová, Marta, Zima, Tomáš, Macek, Milan, Pawlowska, Joanna, Knisely, A. S., Kmoch, Stanislav, Jirsa, Milan
Publicado 2023

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

por Qiu, Yi‐Ling, Gong, Jing‐Yu, Feng, Jia‐Yan, Wang, Ren‐Xue, Han, Jun, Liu, Teng, Lu, Yi, Li, Li‐Ting, Zhang, Mei‐Hong, Sheps, Jonathan A., Wang, Neng‐Li, Yan, Yan‐Yan, Li, Jia‐Qi, Chen, Lian, Borchers, Christoph H., Sipos, Bence, Knisely, A.S., Ling, Victor, Xing, Qing‐He, Wang, Jian‐She
Publicado 2017

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

por Smith, Holly, Galmes, Romain, Gogolina, Ekaterina, Straatman-Iwanowska, Anna, Reay, Kim, Banushi, Blerida, Bruce, Christopher K, Cullinane, Andrew R, Romero, Rene, Chang, Richard, Ackermann, Oanez, Baumann, Clarisse, Cangul, Hakan, Cakmak Celik, Fatma, Aygun, Canan, Coward, Richard, Dionisi-Vici, Carlo, Sibbles, Barbara, Inward, Carol, Ae Kim, Chong, Klumperman, Judith, Knisely, A S, Watson, Steven P, Gissen, Paul
Publicado 2012

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

por Gomez-Ospina, Natalia, Potter, Carol J., Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L., Picarsic, Jennifer L., Jacobson, Theodora A., Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A. S., Finegold, Milton J., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Washington, Gabriel C., Porteus, Matthew H., Berquist, William E., Kambham, Neeraja, Singh, Ravinder J., Xia, Fan, Enns, Gregory M., Moore, David D.
Publicado 2016