Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
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Records 1 - 30 (of 2168 Records) |
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| Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance. Genetics in medicine : official journal of the American College of Medical Genetics 2023 5 100883. Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, Eduardo Calpena, Simon J McGowan, Odile Boute, Corinne Collet, David Johnson, Fanny Laffargue, Nicole de Leeuw, Jenny V Morton, Peter Noons, Charlotte W Ockeloen, Julie M Phipps, Tiong Yang Tan, Andrew T Timberlake, Clemence Vanlerberghe, Steven A Wall, Astrid Weber, Louise C Wilson, Elaine H Zackai, Irene M J Mathijssen, Stephen R F Twigg, Andrew O M Wilk |
| Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus. Frontiers in pediatrics 2023 5 11 1150179. Fawzia M Elgharbawy, Mohammed Yousuf Karim, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf G |
| Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing I?B kinase ?. The British journal of dermatology 2023 5 . Alban Ziegler, Frédéric Ebstein, Hanan Shamseldin, Clément Prouteau, Elke Krüger, Yousef M Binamer, Dominique Bonneau, Fowzan S Alkuraya, Ludovic Mart |
| Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation. Clinical and experimental rheumatology 2023 5 . Mehmet Kocabey, Tufan Cankaya, Meral Torum Bayram, Ayfer Ulgenalp, Ahmet Okay Caglayan, Ozlem Giray Bozka |
| The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
| Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease. Journal of clinical immunology 2023 5 . Wen-I Lee, Chien-Chang Chen, Shih-Hsiang Chen, Wan-Tz Lai, Tang-Her Jaing, Liang-Shiou Ou, Chi-Jou Liang, Chen-Chen Kang, Jing-Long Hua |
| Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 2023 5 . Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, Mohamad Khalil, Harshitha Shanmugam, Giuseppe Lopalco, Rosanna Bagnulo, Antonella Garganese, Florenzo Iannone, Nicoletta Resta, Piero Portincasa, Alessandro Stel |
| Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Frontiers in genetics 2023 4 14 1085210. Lin Yunting, Chen Xiaohong, Xie Bobo, Guan Zhihong, Chen Xiaodan, Li Xiuzhen, Yi Peng, Du Rong, Mei Huifen, Liu Li, Zhang Wen, Zeng Chunh |
| Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. HGG advances 2023 4 4 (2): 100187. Morales-Heil David J, Cao Li, Sweeney Cheryl, Malara Anna, Brown Frank, Milam Philip, Anadkat Milan, Kaffenberger Jessica, Kaffenberger Benjamin, Nagele Peter, Kirby Brian, Roberson Elisha D |
| The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European journal of human genetics : EJHG 2023 4 . Zanoni Paolo, Steindl Katharina, Sticht Heinrich, Oneda Beatrice, Joset Pascal, Ivanovski Ivan, Horn Anselm H C, Cabello Elena M, Laube Julia, Zweier Markus, Baumer Alessandra, Rauch Anita, Khan Nad |
| Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil. Journal of biomolecular structure & dynamics 2023 4 1-9. Galvão Lopes Vitor, Fernandes de Oliveira Victor, Mendonça Munhoz Dati Livia, Naslavsky Michel Satya, Ferreira Glaucio Monteiro, Hirata Mario Hiroyu |
| Acquired Angioedema in Selected Neoplastic Diseases. Medicina (Kaunas, Lithuania) 2023 4 59 (4): . Magdalena Zaj?c, Andrzej Bo?ek, Renata Koz?owska, Alicja Grzan |
| Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with ?-Thalassemia-like Phenotypes. Biology 2023 4 12 (4): . Rosa Catapano, Raffaele Sessa, Silvia Trombetti, Elena Cesaro, Filippo Russo, Paola Izzo, Alexandros Makis, Michela Gros |
| Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. HemaSphere 2023 4 7 (5): e874. Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Panse, Susanne Isfort, Ingo Kurth, Tim H Brümmendorf, Fabian Bei |
| Interleukin 10, but not tumor necrosis factor-alpha, gene variations are associated with factor VII inhibitor development. Laboratory medicine 2023 4 . Nahid Ramezanpour, Korosh Khanaki, Akbar Dorgalaleh, Mahmood Shams, Ali Elmi, Farhad Zak |
| Multi-omics analysis of the Indian ovarian cancer cohort revealed histotype-specific mutation and gene expression patterns. Frontiers in genetics 2023 4 14 1102114. Anisha Mhatre, Jinsha Koroth, Meghana Manjunath, Sandeep Kumar S, Ramesh Gawari, Bibha Choudha |
| Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent. European journal of medical genetics 2023 4 104766. Sweta Das, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Anitha M Barney, Suneetha Susan Cleave A, Atanu Kumar Dutta, Rekha A, Sony Mohan, Sumita Dan |
| Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes. The Journal of infectious diseases 2023 4 . Rocco Joseph M, Laidlaw Elizabeth, Galindo Frances, Anderson Megan, Sortino Ornella, Kuriakose Safia, Lisco Andrea, Manion Maura, Sereti Iri |
| Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisted of M694V and Implications for Colchicine-Resistant Disease. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2023 3 . Kisaoglu Hakan, Baba Ozge, Kalyoncu Mukadd |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 2023 3 29 (3): 679-688. Greene Daniel, , Pirri Daniela, Frudd Karen, Sackey Ege, Al-Owain Mohammed, Giese Arnaud P J, Ramzan Khushnooda, Riaz Sehar, Yamanaka Itaru, Boeckx Nele, Thys Chantal, Gelb Bruce D, Brennan Paul, Hartill Verity, Harvengt Julie, Kosho Tomoki, Mansour Sahar, Masuno Mitsuo, Ohata Takako, Stewart Helen, Taibah Khalid, Turner Claire L S, Imtiaz Faiqa, Riazuddin Saima, Morisaki Takayuki, Ostergaard Pia, Loeys Bart L, Morisaki Hiroko, Ahmed Zubair M, Birdsey Graeme M, Freson Kathleen, Mumford Andrew, Turro Erne |
| SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts. Cytogenetic and genome research 2023 3 . Bunyan David J, Hobbs James I, Duncan-Flavell Philippa J, Howarth Rachel J, Beal Sarah, Baralle Diana, Thomas Nicholas Sim |
| IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature. Cureus 2023 3 15 (2): e34876. Yokoyama Tadafumi, Sakumura Naoto, Inoue Natsumi, Matsuda Yusuke, Wada Tai |
| Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. HGG advances 2023 3 4 (2): 100185. Canson Daffodil M, O'Mara Tracy A, Spurdle Amanda B, Glubb Dylan |
| Co-occurrence of familial Mediterranean fever with systemic lupus erythematosus in South Asian population. Reumatologia clinica 2023 3 19 (3): 130-135. Farooq Muhammad Umar, Sohail Hasan, Mohsin Muhammad, Iqbal Raafe, Malik Jahanzeb, Ishaq Uz |
| Mutations in the alternative complement pathway in multiple myeloma patients with carfilzomib-induced thrombotic microangiopathy. Blood cancer journal 2023 2 13 (1): 31. Moscvin Maria, Liacos Christine Ivy, Chen Tianzeng, Theodorakakou Foteini, Fotiou Despina, Hossain Shahrier, Rowell Sean, Leblebjian Houry, Regan Eileen, Czarnecki Peter, Bagnoli Filippo, Bolli Niccolo', Richardson Paul, Rennke Helmut G, Dimopoulos Meletios A, Kastritis Efstathios, Bianchi Gia |
| Prevalence of CFTR variants in PID patients with bronchiectasis - an important modifying co-factor. The Journal of allergy and clinical immunology 2023 2 . Lawless Dylan, Allen Hana Lango, Thaventhiran James E D, Goddard Sarah, Burren Oliver S, Robson Evie, , Peckham Daniel, Smith Kenneth G C, Savic Sini |
| The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort. Clinical rheumatology 2023 2 . Ça?layan ?engül, Mardino?lu Gizem, Yarar Murat Hakk?, Ulu Kadir, Co?kuner Taner, Yi?it Ramazan Emre, Baykal Gülcan Özomay, Türkmen ?eyma, Çakan Mustafa, Demir Ferhat, Sözeri Bet |
| Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study. European journal of pediatrics 2023 2 . Bekis Bozkurt Hayrunnisa, Y?ld?r?m Sema, Ergüven Müfer |
| Food allergy characteristics associated with co-existing eosinophilic esophagitis in FARE Registry participants. The journal of allergy and clinical immunology. In practice 2023 2 . Guarnieri Katharine M, Saba Nicholas K, Schwartz Justin T, Devonshire Ashley L, Bufford Jennifer, Casale Thomas B, Rothenberg Marc E, Andorf Sand |
| The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages. Journal of clinical immunology 2023 2 . Azizi Gholamreza, Hesari Mina Fattah, Sharifinejad Niusha, Fayyaz Farimah, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Alan Mahnaz Seifi, Jamee Mahnaz, Tavakol Marzieh, Sadri Homa, Shahrestanaki Ehsan, Nabavi Mohammad, Ebrahimi Sareh Sadat, Shirkani Afshin, Vosughi Motlagh Ahmad, Delavari Samaneh, Rasouli Seyed Erfan, Esmaeili Marzie, Salami Fereshte, Yazdani Reza, Rezaei Nima, Abolhassani Hass |
| Immunological and molecular study in children with combined immunodeficiency. European annals of allergy and clinical immunology 2023 2 . Kholoussi S, Ramadan A, Kholoussi N, Ashaat E A, Fayez A G, Raouf H A, Helwa I, Esmaiel N N, Ghorab R, Abo-Shanab A |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 22, 2023
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