Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 53 Records) |
Query Trace: Factor 2 Deficiency[original query] |
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Long-term prophylaxis in severe factor VII deficiency. Haemophilia : the official journal of the World Federation of Hemophilia 2015 May . Siboni S M, Biguzzi E, Mistretta C, Garagiola I, Peyvandi |
[Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Jun 33 (3): 357-60. Peng Wei, Zhang Shuxin, Liu Xin, Gu Yanan, Wang Y |
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. Blood cells, molecules & diseases 2016 May 58 29-34. Shao Yanyan, Cao Yanan, Lu Yeling, Dai Jing, Ding Qiulan, Wang Xuefeng, Xi Xiaodong, Wang Hong |
Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology. Thrombosis research 2016 Feb 141 22-27. Pfeiffer Caroline, Mathieu-Dupas Eve, Logghe Pauline, Lissalde-Lavigne Géraldine, Balicchi Julien, Caliskan Umran, Valentin Thomas, Laune Daniel, Molina Franck, Schved Jean François, Giansily-Blaizot Muri |
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. Blood cells, molecules & diseases 2016 Mar 57 81-4. Shanbhag Sharda, Ghosh Kanjaksha, Shetty Shrima |
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. Clinical genetics 2017 Jul . Guéant-Rodriguez R M, Chery C, Caillierez-Fofou B-M, Voirin J, Foliguet B, Josse T, Tramoy D, Feillet F, Guéant J |
Exploring the global landscape of genetic variation in coagulation factor XI deficiency. Blood 2017 Jun . Asselta Rosanna, Paraboschi Elvezia Maria, Rimoldi Valeria, Menegatti Marzia, Peyvandi Flora, Salomon Ophira, Duga Stefa |
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. Thrombosis and haemostasis 2017 Apr . Quintavalle Gabriele, Riccardi Federica, Rivolta Gianna Franca, Martorana Davide, Di Perna Caterina, Percesepe Antonio, Tagliaferri Annarita, |
Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. Human genome variation 2017 11 4 17048. Tiscia Giovanni, Favuzzi Giovanni, Chinni Elena, Colaizzo Donatella, Fischetti Lucia, Intrieri Mariano, Margaglione Maurizio, Grandone Elvi |
Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2018 6 29 (5): 476-480. Kader Sebnem, Mutlu Mehmet, Acar Filiz Akturk, Aslan Yakup, Bahadir Aysen |
[Analysis of Phenotype and L12R Mutation in Signal Peptide and 3' Non-translation Region c11814-insAA Mutation of F7 Gene in a Family with Hereditary Coagulation Factor VII Deficiency]. Zhongguo shi yan xue ye xue za zhi 2018 4 26 (2): 508-515. Liu Shan, Zhang Jing-Yu, Li Zheng-Rong, Wang Yan, Niu Zhi-Yun, Lin Feng- |
Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2018 12 30 (1): 34-41. Mitchell Michael, Gattens Michael, Kavakli Kaan, Liesner Ri, Payne Jeanette, Norton Miranda, Austin Stev |
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients. Nephrology (Carlton, Vic.) 2018 1 24 (3): 357-364. Jlajla Hend, Dehman Fatma, Jallouli Manel, Khedher Rania, Ayadi Imen, Zerzeri Yosr, Laadhar Lilia, Sfar Imen, Mahfoudh Abdelmajid, Gorgi Yosr, Cheour Elhem, Zouaghi Karim, Gargah Tahar, Kallel Sellami Mary |
Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency. Thrombosis research 2018 Jan 163 64-70. Salloum-Asfar Salam, de la Morena-Barrio María E, Esteban Julio, Miñano Antonia, Aroca Cristina, Vicente Vicente, Roldán Vanessa, Corral Javi |
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency. Haematologica 2019 7 105 (3): 829-837. Ferraresi Paolo, Balestra Dario, Guittard Caroline, Buthiau Delphine, Pan-Petesh Brigitte, Maestri Iva, Farah Roula, Pinotti Mirko, Giansily-Blaizot Muri |
Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2019 10 30 (8): 409-412. Dorgalaleh Akbar, Gholaminezhad Masoume, Shiravand Yavar, Naderi Majid, Safa Maj |
Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family. Hamostaseologie 2020 9 40 (5): 650-654. Wang Yu, Zhang Haiyue, Liu Siqi, Ye Jiaj |
Inhibitor development in previously untreated patients with severe haemophilia: A comparison of included patients and outcomes between a clinical study and a registry-based study. Haemophilia : the official journal of the World Federation of Hemophilia 2020 7 26 (5): 809-816. Jonker Carla J, Oude Rengerink Katrien, Hoes Arno W, Mol Peter G M, van den Berg H Marij |
Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations. Thrombosis research 2020 5 192 100-102. Zhang Donglei, Zhang Xian, Sun Boyang, Li Huiyuan, Xue Feng, Liu Xiaofan, Sun Haiyan, Chen Long, Qin Li, Lin Yani, Zhang Lei, Ru Kun, Yang Renc |
[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 4 37 (5): 505-508. Liu Mohan, Yang Yuan, Liu Yunqia |
Congenital factor XI deficiency caused by a novel F11 missense variant: a case report. Croatian medical journal 2020 3 61 (1): 62-65. Gotovac Jer?i? Kristina, Blažekovi? Antonela, Han?evi? Mirea, Bili? Ervina, Borove?ki Fr |
TLR5 Activation Exacerbates Airway Inflammation in Asthma. Lung 2020 2 198 (2): 289-298. Whitehead G S, Hussain S, Fannin R, Trempus C S, Innes C L, Schurman S H, Cook D N, Garantziotis |
Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis. PloS one 2021 16 (9): e0257322. Osaki Tsukasa, Souri Masayoshi, Ichinose Akita |
How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency. International journal of hematology-oncology and stem cell research 2021 2 14 (4): 265-273. Shahraki Hojat, Dorgalaleh Akbar, Fathi Majid, Tabibian Shadi, Teimourian Shahram, Mollanoori Hasan, Khiabani Alireza, Zaker Farh |
A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2021 1 32 (2): 140-145. Su Kankan, Wang Lin, Wang Mingshan, Wang Ho |
Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2022 7 33 (5): 280-284. Ouardani Cherifa, Elmahmoudi Hejer, ELborgi Wejden, Gharbi Maroua, Meriem Achour, Gouider Em |
A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency. Frontiers in medicine 2022 6 9 870269. Chang Yueh-Shih, Lan Yi-Cheng, Chen Ya-Jyun, Huang Jen-Seng, Yang Chia-Ning, Huang Chi-Ying F, Yeh Kun-Y |
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 |
Factor XII deficiency: a clinical and molecular genetic study. International journal of hematology 2023 1 . Demidova Ekaterina, Salomashkina Valentina, Pshenichnikova Olesya, Selivanova Daria, Yakovleva Elena, Zozulya Nadezda, Gorgidze Lana, Surin Vad |
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 |
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- Page last updated:Apr 22, 2024
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