References of "Daly, Adrian"
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See detailA giant treated with growth hormone
Rostomyan, Liliya ULg; Potorac, Iulia ULg; Daly, Adrian ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, AS; Potorac, I; DEBRAY, François-Guillaume ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailHypopituitarism in pituitary gigantism (results of an international study)
Rostomyan, L; Daly, Adrian ULg; Shah, N et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailLiege acromegay Survey : An epidemiological study about the average age of death and the causes of mortality of acromegalic patients managed in liege
Petignot, S; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailClinical characteristics of patients with AIP mutation-related prolactinomas
Camby, S; Daly, Adrian ULg; VROONEN, Laurent ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailGigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation.
Trivellin, Giampaolo; Daly, Adrian ULg; Faucz, Fabio R. et al

in The New England journal of medicine (2014)

Background Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. Methods We performed ... [more ▼]

Background Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. Methods We performed clinical and genetic studies of samples obtained from 43 patients with gigantism and then sequenced an implicated gene in samples from 248 patients with acromegaly. Results We observed microduplication on chromosome Xq26.3 in samples from 13 patients with gigantism; of these samples, 4 were obtained from members of two unrelated kindreds, and 9 were from patients with sporadic cases. All the patients had disease onset during early childhood. Of the patients with gigantism who did not carry an Xq26.3 microduplication, none presented before the age of 5 years. Genomic characterization of the Xq26.3 region suggests that the microduplications are generated during chromosome replication and that they contain four protein-coding genes. Only one of these genes, GPR101, which encodes a G-protein-coupled receptor, was overexpressed in patients' pituitary lesions. We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors. When the mutation was transfected into rat GH3 cells, it led to increased release of growth hormone and proliferation of growth hormone-producing cells. Conclusions We describe a pediatric disorder (which we have termed X-linked acrogigantism [X-LAG]) that is caused by an Xq26.3 genomic duplication and is characterized by early-onset gigantism resulting from an excess of growth hormone. Duplication of GPR101 probably causes X-LAG. We also found a recurrent mutation in GPR101 in some adults with acromegaly. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others.). [less ▲]

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See detailDeletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression.
Zatelli, Maria Chiara; Tagliati, Federico; Di Ruvo, Mauro et al

in Familial cancer (2014)

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to ... [more ▼]

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. [less ▲]

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See detailA clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.
Salvatori, Roberto; Daly, Adrian ULg; Quinones-Hinojosa, Alfredo et al

in Endocrinology, diabetes & metabolism case reports (2014), 2014

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated ... [more ▼]

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease. LEARNING POINTS: AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.LOH is a strong indicator that an AIP variant is disease causing.Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure. [less ▲]

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See detailA bittersweet symphony.
Daly, Adrian ULg; Beckers, Albert ULg

in Endocrine-related cancer (2014)

This issue sees the publication of work expanding the range of how genetic dysregulation of SDHx genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is ... [more ▼]

This issue sees the publication of work expanding the range of how genetic dysregulation of SDHx genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is characterized by gastrointestinal stromal tumors (GIST), paraganglioma and pulmonary chondromas. [less ▲]

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See detailChallenges and controversies in the treatment of prolactinomas
VROONEN, Laurent ULg; Daly, Adrian ULg; Beckers, Albert ULg

in Expert Review of Endocrinology & Metabolism (2014), 9(6), 593-604

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See detailHypopituitarism in pituitary gigantism (results of an international study)
Rostomyan, Liliya ULg; Daly, Adrian ULg; Shah, NS et al

in The 3rd ENEA Workshop : Hypopituitarism - Abstract book (2013, December)

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See detailA giant treated with growth hormone
Rostomyan, Liliya ULg; Potorac, Iulia ULg; CASTERMANS, Emilie ULg et al

in The 3rd ENEA Workshop : Hypopituitarism - Abstract book (2013, December)

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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, Anne-Sophie ULg; Potorac, Iulia ULg; DEBRAY, François-Guillaume ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailModification of hormonal secretion in macroprolactinoma on treatment
VROONEN, Laurent ULg; Rostomyan, Liliya ULg; Potorac, Iulia ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailCharacteristics of patients with AIP mutation-related prolactinomas
Camby, S; Daly, Adrian ULg; VROONEN, Laurent ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailHypercalcemia treated by sunitinib
LOLY, Jean-Philippe ULg; VALDES SOCIN, Hernan Gonzalo ULg; Daly, Adrian ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailLe gigantisme : Les résultats d'une étude clinique et génétique internationale
Rostomyan, Liliya ULg; Daly, Adrian ULg; Lila, A et al

in Annales d'Endocrinologie (2013, October), 74

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See detailCoexistence entre adénom hypophysaire et phéochromocytome - présentation de cas
Rostomyan, Liliya ULg; Potorac, Iulia ULg; Filipponi, S et al

in Annales d'Endocrinologie (2013, October), 74

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See detailFIPA : étude clinique et génétique à l'Hôpital "King Edward Memorial", Bombay (Mumbai) Inde
Bothra, N; Daly, Adrian ULg; CASTERMANS, Emilie ULg et al

in Annales d'Endocrinologie (2013, October), 74

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