Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and SDHA[original query] |
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Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. European journal of human genetics : EJHG 2015 Jul . Boikos Sosipatros A, Xekouki Paraskevi, Fumagalli Elena, Faucz Fabio R, Raygada Margarita, Szarek Eva, Ball Evan, Kim Su Young, Miettinen Markku, Helman Lee J, Carney J Aidan, Pacak Karel, Stratakis Constantine |
ß-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles. Scientific reports 2016 6 29366. Kraan C M, Cornish K M, Bui Q M, Li X, Slater H R, Godler D |
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. American journal of medical genetics. Part A 2016 Oct . Murakoshi Miki, Takasawa Kei, Nishioka Masato, Asakawa Masahiro, Kashimada Kenichi, Yoshimoto Takanobu, Yamamoto Toshiyuki, Takekoshi Kazuhiro, Ogawa Yoshihiro, Shimohira Masayu |
The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review. OncoTargets and therapy 2019 10 12 7929-7940. Aghamir Seyed Mohammad Kazem, Heshmat Ramin, Ebrahimi Mehdi, Ketabchi Seyed Ebrahim, Parichehreh Dizaji Somayeh, Khatami Fatem |
Role of [68Ga]DOTANOC PET/computed tomography and [131I]MIBG scintigraphy in the management of patients with pheochromocytoma and paraganglioma: a prospective study. Nuclear medicine communications 2020 8 41 (10): 1047-1059. Singh Deepa, Shukla Jaya, Walia Rama, Vatsa Rakhee, Paul Nandini, Chhabra Anupriya, Nahar Uma, Singh Harmandeep, Kumar Rajender, Bhansali Anil, Rai Mittal Bhagwa |
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. Pediatric reports 2021 1 13 (1): 45-56. Pelizzo Gloria, Chiricosta Luigi, Mazzon Emanuela, Zuccotti Gian Vincenzo, Avanzini Maria Antonietta, Croce Stefania, Lima Mario, Bramanti Placido, Calcaterra Valer |
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report. Frontiers in oncology 2022 7 12 925582. Tung Moon Ley, Chandra Bharatendu, Dillahunt Kyle, Gosse Matthew D, Sato T Shawn, Sidhu Al |
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- Page last updated:Apr 22, 2024
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