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Familial states of primary hyperparathyroidism: an update
Familial states of primary hyperparathyroidism: an update
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Familial states of primary hyperparathyroidism: an update

Cetani, F ; Dinoi, E ; Pierotti, L ; Pardi, E

Journal of endocrinological investigation, 2024-04 [Periódico revisado por pares]

Italy

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2
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene
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Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

Lemos, Manuel C ; Thakker, Rajesh V

Human mutation, 2008, Vol.29 (1), p.22-32 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Genetics of monogenic disorders of calcium and bone metabolism
Genetics of monogenic disorders of calcium and bone metabolism
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Genetics of monogenic disorders of calcium and bone metabolism

Newey, Paul J. ; Hannan, Fadil M. ; Wilson, Abbie ; Thakker, Rajesh V.

Clinical endocrinology (Oxford), 2022-10, Vol.97 (4), p.483-501 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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4
Hereditary Primary Hyperparathyroidism
Hereditary Primary Hyperparathyroidism
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Hereditary Primary Hyperparathyroidism

Newey, Paul J.

Endocrinology and metabolism clinics of North America, 2021-12, Vol.50 (4), p.663-681 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update
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Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update

Marini, Francesca ; Cianferotti, Luisella ; Giusti, Francesca ; Brandi, Maria Luisa

Clinical cases in mineral and bone metabolism, 2017-01, Vol.14 (1), p.60-70 [Periódico revisado por pares]

Italy: CIC Edizioni Internazionali

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6
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
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HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

Howell, V M ; Haven, C J ; Kahnoski, K ; Khoo, S K ; Petillo, D ; Chen, J ; Fleuren, G J ; Robinson, B G ; Delbridge, L W ; Philips, J ; Nelson, A E ; Krause, U ; Hammje, K ; Dralle, H ; Hoang-Vu, C ; Gimm, O ; Marsh, D J ; Morreau, H ; Teh, B T

Journal of medical genetics, 2003-09, Vol.40 (9), p.657-663 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Clinical profile of juvenile primary hyperparathyroidism: a prospective study
Clinical profile of juvenile primary hyperparathyroidism: a prospective study
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Clinical profile of juvenile primary hyperparathyroidism: a prospective study

Saponaro, Federica ; Marcocci, Claudio ; Cacciatore, Federica ; Miccoli, Mario ; Pardi, Elena ; Borsari, Simona ; Materazzi, Gabriele ; Miccoli, Paolo ; Cetani, Filomena

Endocrine, 2018-02, Vol.59 (2), p.344-352 [Periódico revisado por pares]

New York: Springer US

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8
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications
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Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

Warner, J ; Epstein, M ; Sweet, A ; Singh, D ; Burgess, J ; Stranks, S ; Hill, P ; Perry-Keene, D ; Learoyd, D ; Robinson, B ; Birdsey, P ; Mackenzie, E ; Teh, B T ; Prins, J B ; Cardinal, J

Journal of medical genetics, 2004-03, Vol.41 (3), p.155-160 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome
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Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome

Mizusawa, Noriko ; Uchino, Shinya ; Iwata, Takeo ; Tsuyuguchi, Masaru ; Suzuki, Yasuyo ; Mizukoshi, Tsunenori ; Yamashita, Yoshio ; Sakurai, Akihiro ; Suzuki, Shinichi ; Beniko, Mutsuo ; Tahara, Hideki ; Fujisawa, Masato ; Kamata, Nobuyuki ; Fujisawa, Kenji ; Yashiro, Tohru ; Nagao, Daisuke ; Golam, Hossain Md ; Sano, Toshiaki ; Noguchi, Shiro ; Yoshimoto, Katsuhiko

Clinical endocrinology (Oxford), 2006-07, Vol.65 (1), p.9-16 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14
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Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14

Warner, J V ; Nyholt, D R ; Busfield, F ; Epstein, M ; Burgess, J ; Stranks, S ; Hill, P ; Perry-Keene, D ; Learoyd, D ; Robinson, B ; Teh, B T ; Prins, J B ; Cardinal, J W

Journal of medical genetics, 2006-03, Vol.43 (3), p.e12-e12 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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