Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management, Clinical Endocrinology | DeepDyve (2023)

  • Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

    Simonds, Simonds; James‐Newton, James‐Newton; Agarwal, Agarwal; Yang, Yang; Skarulis, Skarulis; Hendy, Hendy; Marx, Marx

  • Hyperparathyroid and hypoparathyroid disorders

    Marx, Marx

  • Positional cloning of the gene for multiple endocrine neoplasia‐type 1

    Chandrasekharappa, Chandrasekharappa; Guru, Guru; Manickam, Manickam; Olufemi, Olufemi; Collins, Collins; Emmert‐Buck, Emmert‐Buck; Debelenko, Debelenko; Zhuang, Zhuang; Lubensky, Lubensky; Liotta, Liotta; Crabtree, Crabtree; Wang, Wang; Roe, Roe; Weisemann, Weisemann; Boguski, Boguski; Agarwal, Agarwal; Kester, Kester; Kim, Kim; Heppner, Heppner; Dong, Dong; Spiegel, Spiegel; Burns, Burns; Marx, Marx

  • Characterization of mutations in patients with multiple endocrine neoplasia type

    Bassett, Bassett; Forbes, Forbes; Pannett, Pannett; Lloyd, Lloyd; Christie, Christie; Wooding, Wooding; Harding, Harding; Besser, Besser; Edwards, Edwards; Monson, Monson; Sampson, Sampson; Wass, Wass; Wheeler, Wheeler; Thakker, Thakker

  • A new mutation of the MEN1 gene in an Italian kindred with multiple endocrine neoplasia type

    Cetani, Cetani; Pardi, Pardi; Cianferotti, Cianferotti; Vignali, Vignali; Picone, Picone; Miccoli, Miccoli; Pinchera, Pinchera; Marcocci, Marcocci

  • A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors

    Pinna, Pinna; Orgiana, Orgiana; Carcassi, Carcassi; Alba, Alba; Cetani, Cetani; Pardi, Pardi; Marcocci, Marcocci; Mariotti, Mariotti

  • Mutations in the human Ca(2+)‐sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

    (Video) Hyperparathyroidism FAQs | Dr. Babak Larian August 2020 Facebook Live

    Pollak, Pollak; Brown, Brown; Chou, Chou; Marx, Marx; Steinmann, Steinmann; Levi, Levi; Hebert, Hebert; Seidman, Seidman; Seidman, Seidman

  • HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

    Carpten, Carpten; Robbins, Robbins; Villablanca, Villablanca; Forsberg, Forsberg; Presciuttini, Presciuttini; Bailey‐Wilson, Bailey‐Wilson; Simonds, Simonds; Gillanders, Gillanders; Kennedy, Kennedy; Chen, Chen; Agarwal, Agarwal; Sood, Sood; Jones, Jones; Moses, Moses; Haven, Haven; Petillo, Petillo; Leotlela, Leotlela; Harding, Harding; Cameron, Cameron; Pannett, Pannett; Hoog, Hoog; Heath, Heath; James‐Newton, James‐Newton; Robinson, Robinson; Zarbo, Zarbo; Cavaco, Cavaco; Wassif, Wassif; Perrier, Perrier; Rosen, Rosen; Kristoffersson, Kristoffersson; Turnpenny, Turnpenny; Farnebo, Farnebo; Besser, Besser; Jackson, Jackson; Morreau, Morreau; Trent, Trent; Thakker, Thakker; Marx, Marx; Teh, Teh; Larsson, Larsson; Hobbs, Hobbs

  • HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

    Howell, Howell; Haven, Haven; Kahnoski, Kahnoski; Khoo, Khoo; Petillo, Petillo; Chen, Chen; Fleuren, Fleuren; Robinson, Robinson; Delbridge, Delbridge; Philips, Philips; Nelson, Nelson; Krause, Krause; Hammje, Hammje; Dralle, Dralle; Hoang‐Vu, Hoang‐Vu; Gimm, Gimm; Marsh, Marsh; Morreau, Morreau; Teh, Teh

  • Hyperparathyroidism–jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene

    Cavaco, Cavaco; Guerra, Guerra; Bradley, Bradley; Carvalho, Carvalho; Harding, Harding; Oliveira, Oliveira; Santos, Santos; Sobrinho, Sobrinho; Thakker, Thakker; Leite, Leite

  • Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors

    Cetani, Cetani; Pardi, Pardi; Borsari, Borsari; Viacava, Viacava; Dipollina, Dipollina; Cianferotti, Cianferotti; Ambrogini, Ambrogini; Gazzerro, Gazzerro; Colussi, Colussi; Berti, Berti; Miccoli, Miccoli; Pinchera, Pinchera; Marcocci, Marcocci

  • Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism

    Fujimori, Fujimori; Shirahama, Shirahama; Sakurai, Sakurai; Hashizume, Hashizume; Hama, Hama; Ito, Ito; Shingu, Shingu; Kobayashi, Kobayashi; Amano, Amano; Fukushima, Fukushima

  • familial acromegaly and familial isolated hyperparathyroidism

    Teh, Teh; Kytola, Kytola; Farnebo, Farnebo; Bergman, Bergman; Wong, Wong; Weber, Weber; Hayward, Hayward; Larsson, Larsson; Skogseid, Skogseid; Beckers, Beckers; Phelan, Phelan; Edwards, Edwards; Epstein, Epstein; Alford, Alford; Hurley, Hurley; Grimmond, Grimmond; Silins, Silins; Walters, Walters; Stewart, Stewart; Cardinal, Cardinal; Khodaei, Khodaei; Parente, Parente; Tranebjaerg, Tranebjaerg; Jorde, Jorde; Salmela, Salmela

  • Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree

    Kassem, Kassem; Kruse, Kruse; Wong, Wong; Larsson, Larsson; Teh, Teh

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  • Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism

    Cetani, Cetani; Pardi, Pardi; Giovannetti, Giovannetti; Vignali, Vignali; Borsari, Borsari; Golia, Golia; Cianferotti, Cianferotti; Viacava, Viacava; Miccoli, Miccoli; Gasperi, Gasperi; Pinchera, Pinchera; Marcocci, Marcocci

  • Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism

    Villablanca, Villablanca; Wassif, Wassif; Smith, Smith; Hoog, Hoog; Vierimaa, Vierimaa; Kassem, Kassem; Dwight, Dwight; Du Forsberg, Du Forsberg; Learoyd, Learoyd; Jones, Jones; Stranks, Stranks; Juhlin, Juhlin; Teh, Teh; Carling, Carling; Robinson, Robinson; Larsson, Larsson

  • Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

    Pannett, Pannett; Kennedy, Kennedy; Turner, Turner; Forbes, Forbes; Cavaco, Cavaco; Bassett, Bassett; Cianferotti, Cianferotti; Harding, Harding; Shine, Shine; Flinter, Flinter; Maidment, Maidment; Trembath, Trembath; Thakker, Thakker

  • A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild‐type alleles in the parathyroid tumors

    Teh, Teh; Esapa, Esapa; Houlston, Houlston; Grandell, Grandell; Farnebo, Farnebo; Nordenskjold, Nordenskjold; Pearce, Pearce; Carmichael, Carmichael; Larsson, Larsson; Harris, Harris

  • Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

    Warner, Warner; Epstein, Epstein; Sweet, Sweet; Singh, Singh; Burgess, Burgess; Stranks, Stranks; Hill, Hill; Perry‐Keene, Perry‐Keene; Learoyd, Learoyd; Robinson, Robinson; Birdsey, Birdsey; Mackenzie, Mackenzie; Teh, Teh; Prins, Prins; Cardinal, Cardinal

  • Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism–jaw tumor syndrome

    Simonds, Simonds; Robbins, Robbins; Agarwal, Agarwal; Hendy, Hendy; Carpten, Carpten; Marx, Marx

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  • Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

    Villablanca, Villablanca; Calender, Calender; Forsberg, Forsberg; Hoog, Hoog; Cheng, Cheng; Petillo, Petillo; Bauters, Bauters; Kahnoski, Kahnoski; Ebeling, Ebeling; Salmela, Salmela; Richardson, Richardson; Delbridge, Delbridge; Meyrier, Meyrier; Proye, Proye; Carpten, Carpten; Teh, Teh; Robinson, Robinson; Larsson, Larsson

  • Summary statement from a workshop on asymptomatic primary hyperparathyroidism: a perspective for the 21st century

    Bilezikian, Bilezikian; Potts, Potts; Fuleihan, Fuleihan; Kleerekoper, Kleerekoper; Neer, Neer; Peacock, Peacock; Rastad, Rastad; Silverberg, Silverberg; Udelsman, Udelsman; Wells, Wells

  • A 5178‐9g→A splice donor site mutation in intron 4 of the MEN1 gene causing multiple endocrine neoplasia type 1

    Komminoth, Komminoth

  • An intronic splicing mutation of the MEN1 gene

    Tsukada, Tsukada; Kishi, Kishi; Obara, Obara; Yamaguchi, Yamaguchi

  • Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism

    Frank‐Raue, Frank‐Raue; Rondot, Rondot; Hoeppner, Hoeppner; Goretzki, Goretzki; Raue, Raue; Meng, Meng

  • Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1

    (Video) Sudhaker Rao - Parathyroid Functional States - How to Define and How to Assess

    Turner, Turner; Leotlela, Leotlela; Pannett, Pannett; Forbes, Forbes; Bassett, Bassett; Harding, Harding; Christie, Christie; Bowen‐Jones, Bowen‐Jones; Ellard, Ellard; Hattersley, Hattersley; Jackson, Jackson; Pope, Pope; Quarrell, Quarrell; Trembath, Trembath; Thakker, Thakker

  • Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subject with familial multiple endocrine neoplasia type

    Dong, Dong; Debelenko, Debelenko; Chandrasekharappa, Chandrasekharappa; Emmert‐Buck, Emmert‐Buck; Zhuang, Zhuang; Guru, Guru; Manickm, Manickm; Skarulis, Skarulis; Lubensky, Lubensky; Liota, Liota; Collins, Collins; Marx, Marx; Spiegel, Spiegel

  • Familial isolated hyperparathyroidism maps to the hyperparathyroidism‐jaw tumor locus in 1q21–q32 in a subset of families

    Teh, Teh; Farnebo, Farnebo; Twigg, Twigg; Hoog, Hoog; Kytola, Kytola; Korpi‐Hyovalti, Korpi‐Hyovalti; Wong, Wong; Nordenstrom, Nordenstrom; Grimelius, Grimelius; Sandelin, Sandelin; Robinson, Robinson; Farnebo, Farnebo; Larsson, Larsson

  • Menin interacts with the AP1 transcription factor JunD and represses JunD‐activated transcription

    Agarwal, Agarwal; Guru, Guru; Heppner, Heppner; Erdos, Erdos; Collins, Collins; Park, Park; Saggar, Saggar; Chandrasekharappa, Chandrasekharappa; Collins, Collins; Spiegel, Spiegel; Marx, Marx; Burns, Burns

  • Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes

    Houlston, Houlston; Crabtree, Crabtree; Phillips, Phillips; Crabtree, Crabtree; Tomlinson, Tomlinson

  • Sporadic primary hyperparathyroidism in the setting of multiple endocrine neoplasia type 1

    Teh, Teh; McArdle, McArdle; Parameswaran, Parameswaran; David, David; Larsson, Larsson; Shepherd, Shepherd

  • Parathyroid carcinoma versus parathyroid adenoma in patients with profound hypercalcemia

    Levin, Levin; Galante, Galante; Clark, Clark

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4. At the Forefront of Parathyroid Disease: Differences in Diagnosis
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