2025
Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients
Ribeiro A, Coutinho E, Syed N, Bastos M, Bacelar C, Costa C, Freitas P, Gomes L, Agapito A, Fonseca F, Amaral D, Carvalho D, Sampaio M, Pereira B, Antunes A, Leite V, Castro J, Barros L, Pina R, Martins S, Martinho M, Martins D, Luiz H, Mirante A, Lopes L, Limbert C, Pereira C, Gomes M, Cardoso H, Dinis I, Paiva S, Gonçalves C, Saraiva L, Lemos M. Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients. The Journal Of Clinical Endocrinology & Metabolism 2025, dgaf377. PMID: 40554621, DOI: 10.1210/clinem/dgaf377.Peer-Reviewed Original ResearchVariants of Uncertain SignificanceGH deficiencyWhole-exome sequencingGrowth hormoneGH-deficient patientsSevere short statureProportion of patientsHypothalamic-pituitary developmentMulticentre cohortDigenic mutationsShort statureGenetic spectrumExome sequencingPortuguese cohortRecurrent mutationsNF1 genePatientsGenetic architectureGenetic mutationsGenetic causeSanger sequencingGenetic heterogeneityGenetic basisCohortCausative factors
2024
W48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA
Patra C, Ganesh S, Mahadevan J, Gujarati K, Awasthy D, George S, Ganapathy A, Phalke S, Bettadapura R, Viswanath B, Varghese M, Jain S, Prasad P, Purushottam M. W48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA. European Neuropsychopharmacology 2024, 87: 126. DOI: 10.1016/j.euroneuro.2024.08.257.Peer-Reviewed Original ResearchVariants of Uncertain SignificanceClinical exome sequencingICD-10 diagnosis of dementiaExome sequencingFronto-temporal dementiaFamily historyMAPT geneExonic variantsAlzheimer's diseaseRare genetic risk variantsDiagnosis of dementiaRisk variantsAbnormal tau protein aggregationDiverse populationsPathogenic variantsICD-10 diagnosisRare variantsGenetic risk variantsExome data analysisAPOE e4 alleleTau protein aggregationRare exonic variantsNational Institute of Mental Health and NeurosciencesWhole-exome sequencingGeriatric clinic
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