Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
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Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity. Blood 2024 4 . Tanja C Vallée, Jannik S Glasmacher, Hannes Buchner, Peter D Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J Browning, David K Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogala, Gregor Dueckers, John David M Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R Gennery, Frederick D Goldman, Luis Ignacio Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E Karaca, Sara Sebnem Kilic, Christoph Klein, Sylwia Koltan, Irina Kondratenko, Isabelle Meyts, Gulnara M Nasrullayeva, Lucia Dora Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Ahmed Misbah, Ansgar S Schulz, Gesmar Rs Segundo, Anna Shcherbina, Mary A Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M van Montfrans, Samppa Ryhänen, Beata Wolska-Ku?nierz, John B Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D Ochs, Michael H Albe |
Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients. Indian journal of pediatrics 2024 4 . Reetika Malik Yadav, Sneha Sawant Desai, Maya Gupta, Aparna Dalvi, Umair Ahmad Bargir, Neha Jodhawat, Priyanka Setia, Shweta Shinde, Ankita Parab, Ashita Gada, Prasad Taur, Mukesh Desai, Manisha Madkaik |
Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia-Telangiectasia Mutated Variant Carriers. Cancers 2024 4 16 (7): . Rayan Bensenane, Arnaud Beddok, Fabienne Lesueur, Alain Fourquet, Mathilde Warcoin, Marine Le Mentec, Eve Cavaciuti, Dorothée Le Gal, Séverine Eon-Marchais, Nadine Andrieu, Dominique Stoppa-Lyonnet, Youlia Kiro |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
Clinical characteristics of BRAT1-related disease: a systematic literature review. Acta neurologica Belgica 2024 4 . Weijing Kong, Xianying Cao, Cheng |
Lessons from prospective longitudinal follow-up of a French APECED cohort. The Journal of clinical endocrinology and metabolism 2024 4 . Linda Humbert, Emmanuelle Proust-Lemoine, Sylvain Dubucquoi, Elisabeth Helen Kemp, Pascale Saugier-Veber, Nicole Fabien, Isabelle Raymond-Top, Catherine Cardot-Bauters, Jean-Claude Carel, Maryse Cartigny, Olivier Chabre, Philippe Chanson, Brigitte Delemer, Christine Do Cao, Laurence Guignat, Jean Emmanuel Kahn, Veronique Kerlan, Herve Lefebvre, Agnès Linglart, Roberto Mallone, Rachel Reynaud, Boualem Sendid, Pierre-François Souchon, Philippe Touraine, Jean-Louis Wémeau, Marie-Christine Vantygh |
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel. European journal of haematology 2024 4 . Lital Yeshareem, Joanne Yacobovich, Asaf Lebel, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Galit Berger Pinto, Nino Oniashvili, Jacques Mardoukh, Bella Bielorai, Ruth Laor, Noa Mandel-Shorer, Ayelet Ben Barak, Carina Levin, Mahdi Asleh, Hagit Miskin, Shoshana Revel-Vilk, Dror Levin, Marganit Benish, Tsila Zuckerman, Ofir Wolach, Idit Pazgal, Dafna Brik Simon, Oded Gilad, Asaf David Yanir, Tracie Alison Goldberg, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shem |
Polymorphism of IL-12/IL-23 axis is associated with coronary heart disease. Journal of cellular and molecular medicine 2024 1 . Jiangtao Dong, Qianwen Chen, Tian Xie, Mengru Wang, Mengqi Wang, Lingfeng Z |
Clinical application of whole exome sequencing technology in small-for-gestational-age children. American journal of translational research 2024 1 15 (12): 6813-6822. Yunyun Xie, Xiaolu Qiu, Jun Gong, Yufeng Yuan, Dan Xie, Shouming |
Exploring gastric cancer genetics: A turning point in common variable immunodeficiency. The journal of allergy and clinical immunology. Global 2024 1 3 (2): 100203. Silvia Sánchez-Ramón, Jesús Fuentes-Antrás, Nicholas L Rider, Pedro Pérez-Segura, Eduardo de la Fuente-Muñoz, Miguel Fernández-Arquero, Esmeralda Neves, Rebeca Pérez de Diego, Alberto Ocaña, Kissy Guevara-Hoy |
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. BMC oral health 2024 1 24 (1): 136. Yiting Liu, Jing Sun, Caiqi Zhang, Yi Wu, Siyuan Ma, Xuechun Li, Xiaoshan Wu, Qingping G |
Causative mechanisms and clinical impact of immunoglobulin deficiencies in Ataxia Telangiectasia. The Journal of allergy and clinical immunology 2024 1 . Sanami Takada, Thomas J Weitering, Nienke J H van Os, Likun Du, Ingrid Pico-Knijnenburg, Thomas B Kuipers, Hailiang Mei, Elisabeth Salzer, Michèl A A P Willemsen, Corry M R Weemaes, Qiang Pan-Hammarstrom, Mirjam van der Bu |
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency. Journal of clinical immunology 2024 1 44 (2): 54. Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Aina Aguiló-Cucurull, Janire Perurena-Prieto, Neus Castells, Blanca Urban, Romina Dieli-Crimi, Pere Soler-Palacín, Roger Colobr |
An immunogenomic exome landscape of triple positive primary antiphospholipid patients. Genes and immunity 2024 1 . A Guffroy, L Jacquel, Y Seeleuthner, N Paul, V Poindron, F Maurier, V Delannoy, A C Voegeli, P Zhang, B Nespola, A Molitor, M J Apithy, P Soulas-Sprauel, T Martin, R E Voll, S Bahram, V Gies, J L Casanova, A Cobat, B Boisson, R Carapito, A S Korgan |
Effects of Ataxia-Telangiectasia Mutated Variants on Radionecrosis and Local Control After Stereotactic Radiation Surgery for Non-Small Cell Lung Cancer Brain Metastases. Advances in radiation oncology 2024 1 9 (1): 101320. Warren Floyd, David Carpenter, Eugene Vaios, Rachel Shenker, Peter Hendrickson, Justus D Adamson, William M Giles, Chunhao Wang, Karen Allen, Trey Mullikin, Scott R Floyd, John P Kirkpatrick, Michelle Green, Zachary J Reitm |
Clinical and genomic predictors of adverse events in newly diagnosed glioblastoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 1 . Mary Jane Lim-Fat, J Bryan Iorgulescu, Rifaquat Rahman, Varun Bhave, Alona Muzikansky, Eleanor Woodward, Sydney Whorral, Marie Allen, Mehdi Touat, Xiaomei Li, Gongwen Xu, Jay Patel, Elizabeth R Gerstner, Jayashree Kalpathy-Cramer, Gilbert Youssef, Ugonma Chukwueke, J Ricardo McFaline-Figueroa, Lakshmi Nayak, Eudocia Q Lee, David A Reardon, Rameen Beroukhim, Raymond Y Huang, Wenya Linda Bi, Keith L Ligon, Patrick Y W |
Anti-factor B antibodies in atypical hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2024 1 . Priyanka Khandelwal, Shreesha Nambiar, Rahul Saini, Savita Saini, Poonam Coshic, Aditi Sinha, Pankaj Hari, Jayanth Kumar Palanichamy, Arvind Bag |
Genomic profiling of relapsed small cell lung cancer reveals potential pathways of therapeutic targets. Journal of thoracic disease 2024 1 15 (12): 6796-6805. Wen Ouyang, Jing Yu, Zihang Zeng, Jun Gong, Junhong Zhang, Conghua X |
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19. Journal of clinical immunology 2024 1 44 (2): 50. L E Covill, A Sendel, T M Campbell, I Piiroinen, S Lind Enoksson, E Wahren Borgström, S Hansen, K Ma, P Marits, A C Norlin, C I E Smith, J Kåhlin, L I Eriksson, P Bergman, Y T Bryces |
A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile. Journal of autoimmunity 2024 1 143 103166. Linnea Lindelöf, Solbritt Rantapää-Dahlqvist, Christian Lundtoft, Johanna K Sandling, Dag Leonard, Ahmed Sayadi, Lars Rönnblom, Helena Enocsson, Christopher Sjöwall, Andreas Jönsen, Anders A Bengtsson, Mun-Gwan Hong, Lina-Marcela Diaz-Gallo, Matteo Bianchi, Sergey V Kozyrev, Kerstin Lindblad-Toh, , , Kristina Nilsson Ekdahl, Bo Nilsson, Iva Gunnarsson, Elisabet Svenungsson, Oskar Erikss |
Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study. Journal of clinical medicine 2024 1 13 (1): . Susan Halimeh, Lydia Koch, Gili Kenet, Piotr Kuta, Tess Rahmfeld, Monika Stoll, Ulrike Nowak-Göt |
Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder. Early human development 2024 1 189 105930. Ryota Honjo, Kazutoshi Cho, Kahoko Hashimoto, Kenta Takeda, Yoshitaka Seto, Yosuke Kaneshi, Yuta Furuse, Atsushi Mana |
Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms. Journal of clinical medicine 2023 12 12 (24): . Hyun-Young Kim, Keon Hee Yoo, Chul Won Jung, Hee-Jin Kim, Sun-Hee K |
Chromatin regulator SMARCAL1 modulates cellular lipid metabolism. Communications biology 2023 12 6 (1): 1298. Taylor Hanta Nagai, Chrissy Hartigan, Taiji Mizoguchi, Haojie Yu, Amy Deik, Kevin Bullock, Yanyan Wang, Debra Cromley, Monica Schenone, Chad A Cowan, Daniel J Rader, Clary B Clish, Steven A Carr, Yu-Xin |
CHARIOT: a phase I study of berzosertib with chemoradiotherapy in oesophageal and other solid cancers using time to event continual reassessment method. British journal of cancer 2023 12 . S R Javed, S Lord, S El Badri, R Harman, J Holmes, F Kamzi, T Maughan, D McIntosh, S Mukherjee, A Ooms, G Radhakrishna, P Shaw, M A Hawki |
CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation. Military medicine 2023 12 . Joseph Baxter, Aubri Wate |
Causal role of lipid metabolism in pulmonary alveolar proteinosis: an observational and mendelian randomisation study. Thorax 2023 12 . Junfeng Huang, Zikai Lin, Jinsheng Lin, Shuojia Xie, Shixin Xia, Gengjia Chen, Ziwen Zheng, Zhe Xu, Fangcheng Liu, Hongkai Wu, Shiyue |
Coexistence of Multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1 gene. Clinical and experimental dermatology 2023 12 . Schaida Schirwani, Bea Suarez, Matthew Sommerlad, Emma Corden, Geeta Belgi, Diana Eccles, Adam Fity |
CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood. ERJ open research 2023 12 9 (6): . Spyros A Papiris, Camille Louvrier, Aurélie Fabre, Loukas Kaklamanis, Iraklis Tsangaris, Frantzeska Frantzeskaki, Ilias E Dimeas, Marie-Pierre Debray, Foteini Karakontaki, Maria Kallieri, Lykourgos Kolilekas, Zoe Daniil, Alexandra Giatromanolaki, Caroline Kannengiesser, Raphael Borie, Nadia Nathan, Matthias Griese, Effrosyni D Mana |
Diffusion along the perivascular space as a potential biomarker for glioma grading and isocitrate dehydrogenase 1 mutation status prediction. Quantitative imaging in medicine and surgery 2023 12 13 (12): 8259-8273. Hongquan Zhu, Yan Xie, Li Li, Yufei Liu, Shihui Li, Nanxi Shen, Jiaxuan Zhang, Su Yan, Dong Liu, Yuanhao Li, Wenzhen Z |
Association of ESR1 germline variants with TP53 somatic variants in breast tumors in a genome-wide study. medRxiv : the preprint server for health sciences 2023 12 . Nijole P Tjader, Abigail J Beer, Johnny Ramroop, Mei-Chee Tai, Jie Ping, Tanish Gandhi, Cara Dauch, Susan L Neuhausen, Elad Ziv, Nereida Sotelo, Shreya Ghanekar, Owen Meadows, Monica Paredes, Jessica Gillespie, Amber Aeilts, Heather Hampel, Wei Zheng, Guochong Jia, Qiang Hu, Lei Wei, Song Liu, Christine B Ambrosone, Julie R Palmer, John D Carpten, Song Yao, Patrick Stevens, Weang-Kee Ho, Jia Wern Pan, Paolo Fadda, Dezheng Huo, Soo-Hwang Teo, Joseph Paul McElroy, Amanda Ewart Tola |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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