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Stephen J Marx

Explore the profile of Stephen J Marx including associated specialties, affiliations and a list of published articles. Areas
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Articles 72
Citations 2178
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Recent Articles
1.
Sarquis M, Marx S, Beckers A, Bradwell A, Simonds W, Bicalho M, et al.
Endocrine . 2019 Nov; 67(1):204-208. PMID: 31782130
Purpose: Parathyroid cancer is a rare tumor associated with poor prognosis particularly when disseminated. While chemotherapy and/or radiotherapy are of no clinical value in disseminated disease, immunotherapy should be considered....
2.
Marx S, Sinaii N
J Clin Endocrinol Metab . 2019 Nov; 105(4). PMID: 31778168
Context: Neonatal severe hyperparathyroidism (NSHPT) is rare and potentially lethal. It is usually from homozygous or heterozygous germline-inactivating CASR variant(s). NSHPT shows a puzzling range of serum calcium and parathyroid...
3.
Marx S
J Clin Endocrinol Metab . 2019 Mar; 104(9):4058-4066. PMID: 30848815
Context: Familial isolated hyperparathyroidism (FIHP) is defined as familial primary hyperparathyroidism (FH) without a characteristic extraparathyroidal feature of a more complex hyperparathyroid syndrome. New concepts of FIHP have been developed...
4.
Marx S, Goltzman D
J Bone Miner Res . 2018 Dec; 34(1):22-37. PMID: 30536424
We review advancing and overlapping stages for our understanding of the expressions of six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia type 1 (MEN1) or type 4, multiple endocrine neoplasia type...
5.
Carvalho R, Urtremari B, Jorge A, Santana L, Quedas E, Sekiya T, et al.
Eur J Endocrinol . 2018 Oct; 179(6):391-407. PMID: 30324798
Background Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might...
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Makri A, Bonella M, Keil M, Hernandez-Ramirez L, Paluch G, Tirosh A, et al.
Clin Endocrinol (Oxf) . 2018 Jun; 89(4):437-443. PMID: 29927501
Objective: Cushing disease (CD) is a rare entity caused by ACTH-secreting pituitary tumours, leading to prolonged hypercortisolism. Most cases are sporadic but can rarely occur in the context of familial...
8.
Marx S
J Clin Endocrinol Metab . 2018 Jun; 103(4):1296-1301. PMID: 29897580
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are...
9.
Marx S, Lourenco Jr D
Horm Metab Res . 2018 Jun; 49(11):e4. PMID: 29879737
No abstract available.
10.
Guan B, Welch J, Vemulapalli M, Li Y, Ling H, Kebebew E, et al.
J Endocr Soc . 2017 Dec; 1(5):488-499. PMID: 29264504
Context: Germline gain-of-function variants in the transcription factor GCM2 were found in 18% of kindreds with familial isolated hyperparathyroidism (FIHP). These variants [c.1136T>A (p.Leu379Gln) and c.1181A>C (p.Tyr394Ser)] were located in...