Last Posted: Oct 09, 2019
- Vascular diseases of the liver. Clinical Guidelines from the Catalan Society of Digestology and the Spanish Association for the Study of the Liver.
Martín-Llahí Marta et al. Gastroenterologia y hepatologia 2017 Oct 40(8) 538-580
- Mutations in CYP2C9 and/or VKORC1 haplotype are associated with higher bleeding complications in patients with Budd-Chiari syndrome on warfarin.
Shukla Akash et al. Hepatology international 2019 Jan
- Prevalence of CALR mutations in splanchnic vein thrombosis: A systematic review and meta-analysis.
Li Miaomiao, et al. Thrombosis research 2018 5 96-103
- Investigation of Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G promoter polymorphism in Indian venous thrombosis patients: A case-control study.
Prabhudesai Aniket, et al. European journal of haematology 2017 5
- Thrombophilia Profile in Budd-Chiari Syndrome and Splanchnic Vein Thrombosis: A Study from Western India.
Sawant Prabha, et al. The Journal of the Association of Physicians of India 2015 9 (9) 32-5
- PAI-1 4G-4G and MTHFR 677TT in non-hepatitis C virus/hepatitis B virus-related liver cirrhosis.
Pasta Linda, et al. World journal of hepatology 2015 12 (29) 2920-6
- Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.
Zhang Peijin, et al. Gastroenterology research and practice 2015 0 807865
- Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.
El Sebay Hatem M, et al. Journal of gastroenterology and hepatology 2015 8
- Role of calreticulin mutations in the aetiological diagnosis of splanchnic vein thrombosis.
Turon Fanny, et al. Journal of hepatology 2015 1 (1) 72-4
- Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.
Karaköse Süleyman, et al. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2015 1 (1) 42-8
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.