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Results: 2645  publications found.

Saultier, P.  et al. 2021

GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis

BACKGROUND: GATA1 is an essential transcription factor for both polyploidization and megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant carriers is not well...
J Thromb Haemost - issue: - volume: - pages: .

Eydoux, R.  et al. 2021

Women's perceptions of femininity after craniopharyngioma: a qualitative study.

BACKGROUND: Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues...
Clin Endocrinol (Oxf) - issue: 5 - volume: 94 - pages: 880-887.

Charnay, T.  et al. 2021

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

PURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As...
Genet Med - issue: - volume: - pages: .

Ehinger, Y.  et al. 2021

Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome

Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes,...
Int J Mol Sci - issue: 9 - volume: 22 - pages: 4316.

Stefanovic, S.  et al. 2021

Outflow tract formation - Embryonic origins of conotruncal congenital heart disease

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the...
J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.

Aubert Mucca, M.  et al. 2021

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical...
J Med Genet - issue: - volume: - pages: jmedgenet-2020-107511.

Lo Barco, T.  et al. 2021

SYNGAP1-DEE: A visual sensitive epilepsy

OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available...
Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.

Salvi, A.  et al. 2021

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases

STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic...
Clin Genet - issue: - volume: - pages: .

Ho, K.  et al. 2021

Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?

The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some...
J Endocr Soc - issue: 3 - volume: 5 - pages: bvaa205.

Hochman, C.  et al. 2021

Pre-term birth in women exposed to Cushing's disease: the baby-cush study.

DESIGN: Hypercortisolism during pregnancy is a risk factor for prematurity. Long-term exposure to hypercortisolism may lead to permanent comorbidities, such as hypertension or diabetes, even after...
Eur J Endocrinol - issue: 3 - volume: 184 - pages: 469-476.

Reincke, M.  et al. 2021

Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations.

BACKGROUND: Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease....
Eur J Endocrinol - issue: 3 - volume: 184 - pages: P1-P16.

Oei, W.  et al. 2021

Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research

Br J Dermatol - issue: 185 - volume: 2 - pages: 371-379.

Whalen, S.  et al. 2021

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families...
Eur J Hum Genet - issue: - volume: - pages: .

Etchevers, HC.  et al. 2021

Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: 10.1007/978-1-0716-1056-5_6 - volume: 2235 - pages: 61-87.

Matagne, V.  et al. 2021

Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent genetic...
Neurobiol Dis - issue: - volume: 149 - pages: 105235.

Castinetti, F.  et al. 2021

The risks of medical treatment of prolactinoma.

First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 15-19.

Amodru, V.  et al. 2021

Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives.

Adrenocortical carcinoma is a rare malignant tumor of poor prognosis, frequently requiring additional treatments after initial surgery. Due to its adrenolytic action, mitotane has become the...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 52-58.

Castinetti, F.  et al. 2021

Positron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal?

Medullary thyroid carcinomas (MTC) are rare neoplasms derived from calcitonin-secreting cells of the thyroid. They can occur sporadically or as part of the multiple endocrine neoplasia type 2...
Thyroid - issue: 2 - volume: 31 - pages: 151-155.

Jullien, N.  et al. 2021

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.

Salgues, B.  et al. 2021

Risk stratification of adrenal masses by [(18) F]FDG PET/CT: Changing tactics.

CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.