S
Stephen J. Marx
Researcher at National Institutes of Health
Publications - 294
Citations - 26904
Stephen J. Marx is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Multiple endocrine neoplasia & MEN1. The author has an hindex of 82, co-authored 294 publications receiving 25769 citations. Previous affiliations of Stephen J. Marx include University of São Paulo & Carlisle Companies.
Papers
More filters
Journal ArticleDOI
Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1
Settara C. Chandrasekharappa,Siradanahalli C. Guru,Pachiappan Manickam,Shodimu Emmanuel Olufemi,Francis S. Collins,Michael R. Emmert-Buck,Larisa V. Debelenko,Zhengping Zhuang,Irina A. Lubensky,Lance A. Liotta,Judy S. Crabtree,Yingping Wang,Bruce A. Roe,Jane M. Weisemann,Mark S. Boguski,Sunita K. Agarwal,Mary Beth Kester,Young Sik Kim,Christina Heppner,Qihan Dong,Allen M. Spiegel,A. Lee Burns,Stephen J. Marx +22 more
TL;DR: The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis of multiple endocrine neoplasia-type 1.
Journal ArticleDOI
CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2
Maria Luisa Brandi,Robert F. Gagel,Alberto Angeli,John P. Bilezikian,Paolo Beck-Peccoz,Cesare Bordi,Bernard Conte-Devolx,Alberto Falchetti,R. G. Gheri,Alfonso Libroia,Cornelius J. M. Lips,Gaetano Lombardi,Massimo Mannelli,Furio Pacini,Bruce A.J. Ponder,Frank Raue,Britt Skogseid,Guido Tamburrano,Rajesh V. Thakker,Norman W. Thompson,Paola Tomassetti,Francesco Tonelli,Samuel A. Wells,Stephen J. Marx +23 more
TL;DR: The specific RET codon mutation correlates with the MEN2 syndromic variant, the age of onset of M TC, and the aggressiveness of MTC; consequently, that mutation should guide major management decisions, such as whether and when to perform thyroidectomy.
Journal ArticleDOI
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
Martin R. Pollak,Edward M. Brown,Yah-Huei Wu Chou,Steven C. Hebert,Stephen J. Marx,Beat Stelnmann,Tatjana Levi,Christine E. Seidman,Jon G. Seidman +8 more
TL;DR: It is demonstrated that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis.
Journal ArticleDOI
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome
John D. Carpten,Christiane M. Robbins,Andrea Villablanca,Lars Forsberg,Silvano Presciuttini,Joan E. Bailey-Wilson,William F. Simonds,E. Gillanders,A.M. Kennedy,Jindong Chen,Sunita K. Agarwal,Raman Sood,Mary Pat Jones,Tracy Moses,C. Haven,David Petillo,P.D. Leotlela,Brian Harding,David Cameron,Anna A.J. Pannett,Anders Höög,H. Heath,Laura James-Newton,Bruce G. Robinson,R.J. Zarbo,Branca M. Cavaco,Wassif S. Wassif,N.D. Perrier,I.B. Rosen,Ulf Kristoffersson,Peter D. Turnpenny,Lars-Ove Farnebo,G. M. Besser,Charles E. Jackson,Hans Morreau,J.M. Trent,Rajesh V. Thakker,Stephen J. Marx,Bin Tean Teh,Catharina Larsson,Maurine R. Hobbs +40 more
TL;DR: The findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT–JT and in development of some sporadic parathyroid tumors.
Journal ArticleDOI
Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop.
Richard Eastell,Andrew Arnold,M. L. Brandi,Edward M. Brown,Pierre D’Amour,David A. Hanley,D. Sudhaker Rao,Mishaela R. Rubin,David Goltzman,Shonni J. Silverberg,Stephen J. Marx,Munro Peacock,Lis Mosekilde,Roger Bouillon,E. M. Lewiecki +14 more
TL;DR: A literature review on issues arising from the clinical presentation and natural history of PHPT and data do not support the use of marked hypercalciuria as an indication for surgery for patients with mild PHPT.