Results 41 to 50 of about 202,059 (264)

Are Fertility Preservation Procedures Before Gonadotoxic Therapy and Hematopoietic Stem Cell Transplantation Feasible and Safe in Very Young Children? A Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian, Yannick Braun, Till‐Martin Theilen, Anke Barnbrock, Theresa Rohm, Fabienne Hammant, Nicole Sänger, Aynura Abbasova‐Semiz, Jan‐Henning Klusmann, Thomas Klingebiel, Udo Rolle, Peter Bader, Henning C. Fiegel, Andrea Jarisch   +13 more
wiley   +1 more source

Disruption of CAD Oligomerization by Pathogenic Variants

Journal of Molecular Biology
ABSTRACT CAD is a multi-enzymatic protein essential for initiating the de novo biosynthesis of pyrimidine nucleotides, forming large hexamers whose structure and function are not fully understood. Defects in CAD result in a severe neurometabolic disorder that is challenging to diagnose.
Francisco Del Caño-Ochoa, Lobna Ramadane-Morchadi, Lluís Eixerés, María Moreno-Morcillo, Rafael Fernández-Leiro, Santiago Ramón-Maiques   +5 more
openaire   +5 more sources

Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters

Frontiers in Genetics
BackgroundCongenital eyelid coloboma (CEC) is a rare genetic disease, manifesting as a congenital partial or total defect of the eyelid. In this study, we report a pedigree with CEC caused by a novel pathogenic variant in JMJD6.Case reportThe proband was
Xin Li, Yuqi Zhang, Gang Chai, Weijie Su, Yan Zhang   +4 more
doaj   +1 more source

Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar, Karen Thibaudeau, Mary Mathias, Heather McDaniel, Madlen Reschke, Klaus Tenbrock, Joseph M. Parker, Amy Shapiro   +7 more
wiley   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Ocular Manifestation of CACNA1A Pathogenic Variants

Pediatric Neurology Briefs, 2016
Investigators from The Children's Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children's Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in the CACNA1A gene.
Reinson, Karit, Õunap, Katrin
openaire   +5 more sources

Pathogenic Germline Variants in 10,389 Adult Cancers [PDF]

Cell, 2018
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma.
Huang, Kuan-lin, Mashl, R. Jay, Wu, Yige, Ritter, Deborah I., Wang, Jiayin, Oh, Clara, Paczkowska, Marta, Reynolds, Sheila, Wyczalkowski, Matthew A., Oak, Ninad, Scott, Adam D., Krassowski, Michal, Cherniack, Andrew D., Houlahan, Kathleen E., Jayasinghe, Reyka, Wang, Liang-Bo, Zhou, Daniel Cui, Liu, Di, Cao, Song, Kim, Young Won, Koire, Amanda, McMichael, Joshua F., Hucthagowder, Vishwanathan, Kim, Tae-Beom, Hahn, Abigail, Wang, Chen, McLellan, Michael D., Al-Mulla, Fahd, Johnson, Kimberly J., Caesar-Johnson, Samantha J., Demchok, John A., Felau, Ina, Kasapi, Melpomeni, Ferguson, Martin L., Hutter, Carolyn M., Sofia, Heidi J., Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Zenklusen, Jean C., Zhang, Jiashan (Julia), Chudamani, Sudha, Liu, Jia, Lolla, Laxmi, Naresh, Rashi, Pihl, Todd, Sun, Qiang, Wan, Yunhu, Wu, Ye, Cho, Juok, DeFreitas, Timothy, Frazer, Scott, Gehlenborg, Nils, Getz, Gad, Heiman, David I., Kim, Jaegil, Lawrence, Michael S., Lin, Pei, Meier, Sam, Noble, Michael S., Saksena, Gordon, Voet, Doug, Zhang, Hailei, Bernard, Brady, Chambwe, Nyasha, Dhankani, Varsha, Knijnenburg, Theo, Kramer, Roger, Leinonen, Kalle, Liu, Yuexin, Miller, Michael, Reynolds, Sheila, Shmulevich, Ilya, Thorsson, Vesteinn, Zhang, Wei, Akbani, Rehan, Broom, Bradley M., Hegde, Apurva M., Ju, Zhenlin, Kanchi, Rupa S., Korkut, Anil, Li, Jun, Liang, Han, Ling, Shiyun, Liu, Wenbin, Lu, Yiling, Mills, Gordon B., Ng, Kwok-Shing, Rao, Arvind, Ryan, Michael, Wang, Jing, Weinstein, John N., Zhang, Jiexin, Abeshouse, Adam, Armenia, Joshua, Chakravarty, Debyani, Chatila, Walid K., de Bruijn, Ino, Gao, Jianjiong, Gross, Benjamin E., Heins, Zachary J., Kundra, Ritika, La, Konnor, Ladanyi, Marc, Luna, Augustin, Nissan, Moriah G., Ochoa, Angelica, Phillips, Sarah M., Reznik, Ed, Sanchez-Vega, Francisco, Sander, Chris, Schultz, Nikolaus, Sheridan, Robert, Sumer, S. Onur, Sun, Yichao, Taylor, Barry S., Wang, Jioajiao, Zhang, Hongxin, Anur, Pavana, Peto, Myron, Spellman, Paul, Benz, Christopher, Stuart, Joshua M., Wong, Christopher K., Yau, Christina, Hayes, D. Neil, Parker, Joel S., Wilkerson, Matthew D., Ally, Adrian, Balasundaram, Miruna, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Holt, Robert, Jones, Steven J. M., Kasaian, Katayoon, Lee, Darlene, Ma, Yussanne, Marra, Marco A., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Mungall, Karen, Robertson, A. Gordon, Sadeghi, Sara, Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Thiessen, Nina, Tse, Kane, Wong, Tina, Berger, Ashton C., Beroukhim, Rameen, Cherniack, Andrew D., Cibulskis, Carrie, Gabriel, Stacey B., Gao, Galen F., Ha, Gavin, Meyerson, Matthew, Schumacher, Steven E., Shih, Juliann, Kucherlapati, Melanie H., Kucherlapati, Raju S., Baylin, Stephen, Cope, Leslie, Danilova, Ludmila, Bootwalla, Moiz S., Lai, Phillip H., Maglinte, Dennis T., Van Den Berg, David J., Weisenberger, Daniel J., Auman, J. Todd, Balu, Saianand, Bodenheimer, Tom, Fan, Cheng, Hoadley, Katherine A., Hoyle, Alan P., Jefferys, Stuart R., Jones, Corbin D., Meng, Shaowu, Mieczkowski, Piotr A., Mose, Lisle E., Perou, Amy H., Perou, Charles M., Roach, Jeffrey, Shi, Yan, Simons, Janae V., Skelly, Tara, Soloway, Matthew G., Tan, Donghui, Veluvolu, Umadevi, Fan, Huihui, Hinoue, Toshinori, Laird, Peter W., Shen, Hui, Zhou, Wanding, Bellair, Michelle, Chang, Kyle, Doddapaneni, HarshaVardhan, Shinbrot, Eve, Wang, Linghua, Bailey, Matthew, Bowen, Jay, Hovens, Christopher, Carvalho, Andre L., de Carvalho, Ana C., Reis, Rui M., Silveira, Henrique C. S., Anderson, Matthew L., Lyadov, Vladimir, Setdikova, Galiya, Shabunin, Alexey, Tavobilov, Mikhail, Feltmate, Colleen, Barnholtz-Sloan, Jill S., Ostrom, Quinn T., De Rose, Agostino, Giuliante, Felice, Lacombe, Louis, Bergeron, Alain, Lipp, Eric, Marks, Jeffrey, McCall, Shannon, Secord, Angeles, Khuri, Fadlo, Looijenga, Leendert, Calatozzolo, Chiara, Cuzzubbo, Stefania, DiMeco, Francesco, Finocchiaro, Gaetano, Mattei, Luca, Perin, Alessandro, Pollo, Bianca, Gabra, Hani, Beuschlein, Felix, Bryce, Alan H., Ho, Thai, Roberts, Lewis, Ajani, Jaffer A., Lazar, Alexander J., Hersey, Peter, Jakrot, Valerie, Kakavand, Hojabr, Long, Georgina, Mann, Graham, Saw, Robyn, Scolyer, Richard, Shannon, Kerwin, Wilmott, James, Moncrieff, Marc, Thomas, George, Hayward, Nicholas, Facciolo, Francesco, Marino, Mirella, Birsoy, Kivanc, Pennell, Nathan A., Alvaro, Domenico, Bragazzi, Maria Consiglia, Cardinale, Vincenzo, Carpino, Guido, Gaudio, Eugenio, Moiseenko, Fedor, Dhanasekaran, Renumathy, Becker, Karl-Friedrich, Abdel-Rahman, Mohamed H., Cebulla, Colleen M., Rai, Karan, Asa, Sylvia L., Schlomm, Thorsten, von Deimling, Andreas, Bossler, Aaron, Ma, Deqin, Milhem, Mohammed, Adebamowo, Clement, Adebamowo, Sally N., Boussioutas, Alex, Giordano, Thomas, Moore, Kathleen, Carlotti, Carlos Gilberto, Dos Santos, Jose Sebastião, Catto, James, Swisher, Elizabeth, Creaney, Jenette, Fong, Kwun M., Yang, Ian, Rathmell, W. Kimryn, Kovatich, Albert J., Govindan, Ramaswamy, Rubin, Mark A., Aredes, Natália D., Mariamidze, Armaz, Boutros, Paul C., Jain, Sanjay, Reimand, Jüri, Chen, Ken   +296 more
openaire   +6 more sources

Autoimmune lymphoproliferative syndrome identified through reverse phenotyping

Central European Journal of Immunology, 2022
Autoimmune lymphoproliferative syndrome (ALPS) is a chronic non-malignant lymphoproliferative disorder caused by mutations in the genes involved in programmed cell death. It is inherited as an autosomal dominant pattern with variable penetrance.
Svetlana Kocheva, Marija Gjorgijevska, Marija Vujovic, Kata Martinova, Zorica Antevska-Trajkova, Aleksandra Jovanovska, Katarina Stavrikj, Dijana Plaseska-Karanfilska   +7 more
doaj   +1 more source

BMT4me En Español: Multisite Feasibility and Usability Testing of a Spanish‐Language mHealth Adherence Support App for Spanish‐Speaking Caregivers of Children After Hematopoietic Stem Cell Transplantation and Cancer Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Medication nonadherence during the first 100 days after pediatric hematopoietic stem cell transplantation (HSCT) and during oncology treatment increases risk for complications. BMT4me is a caregiver‐facing mobile health (mHealth) application providing medication reminders, symptom tracking, and note‐taking features to support ...
Micah A. Skeens, Madeline R. Peek, Bianca Franklin, Emre Sezgin, Melissa Beauchemin   +4 more
wiley   +1 more source

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

Genome Medicine, 2023
Background Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants.
Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner   +3 more
doaj   +1 more source