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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Nature genetics, 2010-03, Vol.42 (3), p.229-233

2010

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Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS

The journal of clinical endocrinology and metabolism, 2013-02, Vol.98 (2), p.E364-E369

2013

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In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas

Endocrine-related cancer, 2013-06, Vol.20 (3), p.349-359

2013

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Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

JAMA : the journal of the American Medical Association, 2010-12, Vol.304 (23), p.2611

2010

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Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2

Clinics (São Paulo, Brazil), 2012-01, Vol.67 (Suppl 1), p.149-154

2012

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Novel pheochromocytoma susceptibility loci identified by integrative genomics

Cancer research (Chicago, Ill.), 2005-11, Vol.65 (21), p.9651-9658

2005

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Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism

Journal of bone and mineral research, 2010-11, Vol.25 (11), p.2382-2391

2010

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Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

The journal of clinical endocrinology and metabolism, 2010-11, Vol.95 (11), p.E373-E383

2010

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Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life

The journal of clinical endocrinology and metabolism, 2014-01, Vol.99 (1), p.E89-E96

2014

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Hypercalcitoninemia is not Pathognomonic of Medullary Thyroid Carcinoma

Clinics (São Paulo, Brazil), 2009-01, Vol.64 (7), p.699-706

2009

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Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation

The journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E308-E318

2015

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Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients

Thyroid (New York, N.Y.), 2017-05, Vol.27 (5), p.693-706

2017

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Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Human mutation, 2011-01, Vol.32 (1), p.51-58

2011

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Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 after total parathyroidectomy

Clinical endocrinology (Oxford), 2010-04, Vol.72 (4), p.462-468

2010

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Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

Pituitary, 2012-09, Vol.15 (3), p.342-349

2012

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High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene

The journal of clinical endocrinology and metabolism, 2010-03, Vol.95 (3), p.1318-1327

2010

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Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

The lancet oncology, 2014-05, Vol.15 (6), p.648-655

2014

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A differential diagnosis of inherited endocrine tumors and their tumor counterparts

Clinics (São Paulo, Brazil), 2013-07, Vol.68 (7), p.1039-1056

2013

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Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1

Clinics (São Paulo, Brazil), 2012-01, Vol.67 (suppl 1), p.99-108

2012

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RET Y791F: alone or accompanied?

Archives of endocrinology and metabolism, 2015-10, Vol.59 (5), p.476-477

2015

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Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1

Clinics (São Paulo, Brazil), 2012-01, Vol.67 (Suppl 1), p.169-172

2012

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Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2

Clinical endocrinology (Oxford), 2012-01, Vol.76 (1), p.147-148

2012

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Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing

European journal of endocrinology, 2018-12, Vol.179 (6), p.391-407

2018

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Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis

Clinics (São Paulo, Brazil), 2010-04, Vol.65 (4), p.407-415

2010

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2

Novel pheochromocytoma susceptibility loci identified by integrative genomics

Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism

Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

Penetrance of Functioning and Nonfunctioning Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 in the Second Decade of Life

Hypercalcitoninemia is not Pathognomonic of Medullary Thyroid Carcinoma

Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation

Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 after total parathyroidectomy

Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations

High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

A differential diagnosis of inherited endocrine tumors and their tumor counterparts

Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1

RET Y791F: alone or accompanied?

Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1

Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis

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