Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 105 Records) |
Query Trace: Primary Hyperparathyroidism[original query] |
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Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up? The Journal of clinical endocrinology and metabolism 2021 6 106 (11): e4565-e4579. Saponaro Federica, Pardi Elena, Mazoni Laura, Borsari Simona, Torregrossa Liborio, Apicella Matteo, Frustaci Gianluca, Materazzi Gabriele, Miccoli Paolo, Basolo Fulvio, Marcocci Claudio, Cetani Filome |
Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma. Frontiers in endocrinology 2021 5 12 631680. Hu Ya, Zhang Xiang, Wang Ou, Cui Ming, Li Xiaobin, Wang Mengyi, Hua Surong, Liao Qu |
Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2021 4 53 (4): 245-256. Shyamasunder Asha Hesarghatta, Pai Rekha, Ramamoorthy Hemalatha, Sakhti Dhananjayan, Manipadam Marie Therese, Kapoor Nitin, Paul Thomas Vizhalil, Jebasingh Felix, Thomas Nihal, Abraham Deepak Thomas, Paul Mazhuvanchary Jacob, Chacko Ari George, Prabhu Krishna, Rajaratnam Sim |
Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Scientific reports 2021 2 11 (1): 2968. García-Castaño Alejandro, Madariaga Leire, Gómez-Conde Sara, Cordo Carmen Lourdes Rey, López-Iglesias María, Garcia-Fernández Yolanda, Martín Alicia, González Pedro, Goicolea Ignacio, de Nanclares Gustavo Pérez, De la Hoz Ana Belén, Aguayo Aníbal, de LaPiscina Idoia Martínez, Martínez Rosa, Saso Laura, Urrutia Inés, Velasco Olaia, Castaño Luis, Gaztambide Son |
Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022 7 37 (10): 1860-1875. Kaur Gurjeet, Bhadada Sanjay Kumar, Santra Mithun, Pal Rimesh, Sarma Phulen, Sachdeva Naresh, Dhiman Vandana, Dahiya Divya, Saikia Uma Nahar, Chakraborty Anuradha, Sood Ashwani, Prakash Mahesh, Behera Arunanshu, Rao Sudhaker |
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing. Frontiers in endocrinology 2022 5 13 853171. Park Hye-Sun, Lee Yeon Hee, Hong Namki, Won Dongju, Rhee Yum |
Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience. Journal of clinical medicine 2022 4 11 (7): . Yavropoulou Maria P, Vlachou Sofia, Tsoli Marina, Fostira Florentia, Kaltsas Gregory, Kassi E |
The Importance of Periodical Screening for Primary Hyperparathyroidism in a Pituitary Tumor Cohort in Searching Patients With MEN1 and Its Genetic Profile. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022 Mar . Damianse Sabrina S P, Nascimento Gilvan C, Rocha Viviane C C, Nascimento Ana Gisélia P A C, Gaido Nadja C, Azulay Rossana S S, Dos Santos Wellyandra C, Rodrigues Vandilson P, Quidute Ana Rosa P, Magalhães Marcelo, Dos S Faria Manu |
Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia. Gland surgery 2022 3 11 (1): 12-22. Bhangu Jagdeep Singh, Baumgartner-Parzer Sabina, Hargitai Lindsay, Mazal Peter, Scheuba Christian, Riss Phili |
Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation. BMC endocrine disorders 2022 3 22 (1): 64. Welsch Christoph, Flügel Anna Katharina, Rondot Susanne, Schulze Egbert, Sircar Ishani, Nußbaumer Judith, Bojunga Jö |
The Importance of Correlation between Aldosterone and Parathyroid Hormone in Patients with Primary Hyperparathyroidism. International journal of endocrinology 2022 11 2022 3804899. Milicic Stanic Branka, Ilincic Branislava, Zeravica Radmila, Milicic Ivanovski Dragana, Cabarkapa Velibor, Mijovic Roma |
[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022]. La Revue de medecine interne 2022 10 44 (1): 12-18. Duval M, Haissaguerre |
Germline CDKN1B variant type and site are associated with phenotype in MEN4. Endocrine-related cancer 2022 10 30 (1): . Halperin Reut, Arnon Liat, Nasirov Sapir, Friedensohn Limor, Gershinsky Michal, Telerman Alona, Friedman Eitan, Bernstein-Molho Rinat, Tirosh Am |
Identification of 4 new loci associated with primary hyperparathyroidism (PHPT) and a polygenic risk score for PHPT. The Journal of clinical endocrinology and metabolism 2022 Sep . Soto-Pedre Enrique, Newey Paul J, Srinivasan Sundararajan, Siddiqui Moneeza K, Palmer Colin N A, Leese Graham |
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families. European journal of endocrinology 2023 9 189 (3): 402-408. Axelle Vuylsteke, Laurens Hannes, Hilde Brems, Koen Devis, Marleen Renard, Anne Uyttebroeck, Eric Legius, Brigitte Decallon |
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism. Endocrine 2023 8 . Arianna Viviani, Luciano Colangelo, Bianca Maria Ciminelli, Andrea Novelletto, Chiara Sonato, Marco Occhiuto, Cristiana Cipriani, Daniele Diacinti, Viviana De Martino, Walter Gianni, Jessica Pepe, Salvatore Minisola, Patrizia Malaspi |
Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas. European journal of endocrinology 2023 8 189 (2): 242-251. Morelli Valentina, Elli Francesca Marta, Frigerio Sofia, Vena Walter, Palmieri Serena, Lucca Camilla, Maffini Maria Antonia, Contarino Andrea, Bagnaresi Francesca, Mantovani Giovanna, Arosio Mau |
Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 7 . An Song, Yi Yang, Yue Jiang, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wa |
Clinical profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism. Clinical endocrinology 2023 7 . Uthara E Mathew, Alpesh Goyal, Ashish D Upadhyay, Devasenathipathy Kandasamy, Shipra Agarwal, Chitresh K Sharma, Arundhati Sharma, Chandrasekhar Bal, Nikhil Tandon, Viveka P Jyots |
Recurrence after Surgery for Primary Hyperparathyroidism in 517 Patients with Multiple Endocrine Neoplasia Type 1. An AFCE and GTE study (Association Francophone de Chirurgie Endocrinienne and Groupe d'étude des Tumeurs Endocrines). Annals of surgery 2023 6 . Nicolas Santucci, Elea Ksiazek, François Pattou, Gregory Baud, Eric Mirallié, Samuel Frey, Christophe Trésallet, Frédéric Sébag, Carole Guérin, Muriel Mathonnet, Niki Christou, Gianluca Donatini, Laurent Brunaud, Sébastien Gaujoux, Fabrice Ménégaux, Haythem Najah, Christine Binquet, Pierre Goudet, Jean-Christophe Lifan |
Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism. Journal of the Endocrine Society 2023 6 7 (7): bvad086. Lior Tolkin, Vanessa Klein, Meir Frankel, Gheona Altarescu, Rachel Beeri, Gabriel Munt |
A Pilot Study of the Association VDR Polymorphisms With Primary Hyperparathyroidism. In vivo (Athens, Greece) 2023 4 37 (3): 1111-1116. Angeliki Chorti, Charoula Achilla, Despoina Tsalkatidou, Moysis Moysidis, Angeliki Cheva, Anthoula Chatzikyriakidou, Theodosios Papavramid |
[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene]. Problemy endokrinologii 2023 2 69 (1): 15-27. Pylina S V, Kim E I, Bondarenko E V, Krupinova J A, Eremkina A K, Mokrysheva N |
Familial parathyroid tumours-comparison of clinical profiles between syndromes. Journal of endocrinological investigation 2023 2 . Figueiredo A A, Saramago A, Cavaco B M, Simões-Pereira J, Leite |
Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort. Frontiers in endocrinology 2023 2 14 1027598. Chen Yingyu, Song An, Nie Min, Jiang Yan, Li Mei, Xia Weibo, Wang Ou, Xing Xiaopi |
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Frontiers in endocrinology 2023 12 14 1254156. Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Mein |
Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study. Frontiers in endocrinology 2023 11 14 1268193. Rachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, Carlos Benbassat, Uri Yoel, Avraham Ishay, Sagit Zolotov, Gideon Bachar, Ehud Banne, Sigal Levy, Orit Twi |
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort. Frontiers in endocrinology 2023 10 14 1244361. Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocío Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixàs, Mercedes Rig |
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes. Surgery 2023 10 . Omair A Shariq, Vitor B Abrantes, Lauren Y Lu, Peter J Tebben, Trenton M Foster, Benzon M Dy, Melanie L Lyden, William F Young, Travis J McKenz |
Concentrations of total, bioavailable, and free 25OHD in individuals with and without primary hyperparathyroidism and their correlations to DXA and trabecular bone score. Archives of endocrinology and metabolism 2023 1 67 (2): 242-250. Santos Lívia Marcela, Ohe Monique, Pallone Sthefanie, Nacaguma Isabela, Kunii Ilda, Silva Renata, Brandão Cynthia Maria, Vieira José Gilberto, Lazaretti-Castro Mari |
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- Page last updated:Apr 22, 2024
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