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Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2017, Volume 60, Issue 3, pp. 178 - 184
Abstract A heterozygous germline variant in the HABP2 gene c.1601G > A (p.Gly534Glu), which negatively impacts its tumor suppressive activity in vitro , has... 
Medical Education | Papillary | Familial cancer | Novel variant | Thyroid cancer | HABP2
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2013, Volume 22, Issue 10, pp. 1940 - 1948
Journal Article
Journal Article
Presse Medicale, ISSN 0755-4982, 2011, Volume 40, Issue 2, pp. e120 - e127
Background: Primary hyperparathyroidism (PHPT) associates hypocalcemia and hypophosphatemia secondary to parathyroid hormone (PTH) excess. PHPT is asymptomatic... 
Journal Article
Human Genetics, ISSN 0340-6717, 10/2008, Volume 124, Issue 3, p. 279
  Recently, the KIF1Bβ gene on 1p36, a region commonly deleted in neural crest cancers, was found to be a proapoptotic factor for sympathetic precursors.... 
Journal Article
Human Genetics, ISSN 0340-6717, 10/2008, Volume 124, Issue 3, pp. 279 - 285
Recently, the KIF1Bb gene on 1p36, a region commonly deleted in neural crest cancers, was found to be a proapoptotic factor for sympathetic precursors. KIF1Bb... 
Journal Article
La Presse Medicale, ISSN 0755-4982, 02/2011, Volume 40, Issue 2, pp. e120 - e127
L’hyperparathyroïdie primaire (HPP), asymptomatique dans 80 % des cas, contribue à une baisse de la masse osseuse. Sa fréquence chez la femme, notamment après... 
Journal Article
Presse medicale (Paris, France : 1983), 02/2011, Volume 40, Issue 2, p. e120
Primary hyperparathyroidism (PHPT) associates hypocalcemia and hypophosphatemia secondary to parathyroid hormone (PTH) excess. PHPT is asymptomatic for 80% of... 
Severity of Illness Index | Bone Diseases - etiology | Prevalence | Prospective Studies | Vitamin D Deficiency - complications | Vitamin D Deficiency - epidemiology | Humans | Female | Male | Aged | Hyperparathyroidism, Primary - complications
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 08/2019, Volume 56, Issue 8, pp. 513 - 520
Background Knowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and... 
DIAGNOSIS | CONFER | next generation sequencing | pheochromocytoma | ADRENAL-TUMORS | paraganglioma | somatic mutations | RECOMMENDATIONS | PREDISPOSITION | mosaicism | GENETICS & HEREDITY | GERMLINE MUTATIONS | SDH MUTATIONS | IMMUNOHISTOCHEMISTRY
Journal Article
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