References of "Daly, Adrian"
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See detailVIEUX PHENOTYPE ET NOUVEAUX GENOTYPES Actualités dans le domaine des adénomes hypophysaires
GERARD, Caroline ULg; JEDIDI, Haroun ULg; PETROSSIANS, Patrick ULg et al

in Revue Médicale de Liège (in press)

Gigantism and acromegaly, usually caused by a pituitary adenoma linked innapropriate secretion of growth hormon (GH) are generally considered as very rare diseases, even if, regarding some authors, their ... [more ▼]

Gigantism and acromegaly, usually caused by a pituitary adenoma linked innapropriate secretion of growth hormon (GH) are generally considered as very rare diseases, even if, regarding some authors, their cumulative prevalence is about 1/5000. Starting from the historical case of a giant from Liège we will describe the different types of GH pituitary adenomas and their physiopathology. We will overall discuss rare forms of inherited GH secreting pituitary adenomas like the FIPA (familial inherited isolated pituitary adenomas) and the X-LAG (X linked acrogigantism), both described in Liège, respectively in 2000 and 2014. [less ▲]

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine Abstracts (2015, May)

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See detailPancreatitis in familial hypocalciuric hypercalcaemia
Potorac, Iulia ULg; MALAISE, Olivier ULg; Daly, Adrian ULg et al

in Endocrine Abstracts (2015, May)

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See detailRecurrence of GH-secreting pituitary adenoms during puberty in children with germline AIP mutations : a clinical challenge
Filliponi, S; Esposito, V; Daly, Adrian ULg et al

in Endocrine Abstracts (2015, May)

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See detailMolecular analysis of miRNA expression profiles in AIP mutation positive somatotropinomas
Falk, N; Daly, Adrian ULg; Beckers, Albert ULg et al

in Endocrine Abstracts (2015, May)

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See detailX-linked acro-gigantism (X-LAG) : A new form of infant-onset pituitary gigantism
Trivellin, G; Daly, Adrian ULg; Faucz, FR et al

in Endocrine Abstracts (2015, May)

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See detailThe Clinical characteristics of X-linked acro-gigantism syndrome
Daly, Adrian ULg; Trivellin, G; Rostomyan, Liliya ULg et al

in Endocrine Abstracts (2015, May)

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See detailGigantism, acromegaly, and GPR101 mutations.
Daly, Adrian ULg; Trivellin, Giampaolo; Stratakis, Constantine

in New England Journal of Medicine (2015), 372(13), 1265

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See detailCongenital gigantism in a girl with anterior pituitary hyperplasia : a new genes for a new disease
Lysy, PA; Daly, Adrian ULg; Brunelle, C et al

in Abstract book - 43ème Congrès Annuel de la Société Belge de Pédiatrie (2015, March)

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See detailX-Linked acro-gigantism (X-LAG) syndrome : a new form of infant-onset pituitary gigantism
Stratakis, CA; Trivellin, G; Rostomyan, Liliya ULg et al

in Abstract book - 14th International Pituitary Congress (2015, March)

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See detailAn orphan GPCR may be mutated in patients with Cushing Disease
Correa, RR; Trivellin, G; Li, Y et al

in Abstract book - ENDO 2015 (2015, March)

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See detailDisease characteristics of patients with X-linked acrogigantism (X-LAG) syndrome
Daly, Adrian ULg; Lodish, MB; Trivellin, G et al

in Abstract book - ENDO 2015 (2015, March)

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See detailCharacteriation of GPR101 expression across different species
Trivellin, G; Bjelobaba, I; Daly, Adrian ULg et al

in Abstract book - ENDO 2015 (2015, March)

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See detailA novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I
Potorac, Iulia ULg; Rivero-Müller, A; Pintiaux, Axelle ULg et al

in Symposium "Perspectives in Endocrinology" - 5ème édition (2015, February 07)

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See detailIntérêt du signal T2 des adénomes hypophysaires à GH traités par analogues de la somatostatine - premiers résultats de l'étude IRMA#2
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Symposium "Perspectives in Endocrinology" - 5ème édition (2015, February 07)

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See detailClinical and genetic characterization of pituitary gigantism: an international study in 208 patients.
Rostomyan, Liliya ULg; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine-related cancer (2015)

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large ... [more ▼]

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and current/previous abnormal growth velocity for age or final height >2SD above country normal means. The median onset of rapid growth was 13.0 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs. 21.5 years, respectively). Adenomas were >/=10 mm (i.e. macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF-1 control was achieved in 39% during long-term follow-up. Final height was greater in those with younger age of onset, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 -X-linked acro-gigantism (X-LAG)- occurred in two familial isolated pituitary adenoma (FIPA) kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically-negative patient groups. AIP-mutated and X-LAG patients had significantly younger age at onset and diagnosis, but disease control was worse in genetically-negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases. [less ▲]

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See detailX-linked acrogigantism (X-LAG) syndrome : Clinical Profile and Therapeutic responses
Beckers, Albert ULg; Lodish, MB; Trivellin, G et al

in Endocrine-Related Cancer (2015), 22

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See detailA novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
Rivero-Muller, Adolfo; Potorac, Iulia ULg; Pintiaux, Axelle ULg et al

in European journal of endocrinology / European Federation of Endocrine Societies (2015), 172(6), 27-36

OBJECTIVE: The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation ... [more ▼]

OBJECTIVE: The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance of corpus luteum and pregnancy, as well as maintenance of testicular testosterone production. Mutations in the LHCGR gene are very rare. The aim of this work was to study the clinical and molecular characteristics of a rare familial LHCGR mutation. METHODS: Five affected members of a family, including a phenotypically female, but genotypically male (46,XY), patient with Leydig cell hypoplasia type 1 and four genotypically female siblings with reproductive abnormalities, were studied genetically. Cell trafficking studies as well as signalling studies of mutated receptor were performed. RESULTS: The five affected patients were all homozygous for a novel mutation in the LHCGR gene, a deletion of guanine in position 1850 (1850delG). This resulted in a frameshift affecting most of the C-terminal intracellular domain. In vitro studies demonstrated that the 1850delG receptor was completely incapable of transit to the cell membrane, becoming trapped within the endoplasmic reticulum. This could not be rescued by small-molecule agonist treatment or stimulated intracellularly by co-expression of a yoked human chorionic gonadotrophin. CONCLUSIONS: This novel LHCGR mutation leads to complete inactivation of the LHCGR receptor due to trafficking and signalling abnormalities, which improves our understanding of the impact of the affected structural domain on receptor trafficking and function. [less ▲]

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See detailFamilial Isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene
Daly, Adrian ULg; Beckers, Albert ULg

in Endocrinology & Metabolism Clinics of North America (2015), 44

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