Results 181 to 190 of about 1,176,884 (363)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Complications after medullary thyroid carcinoma surgery: multicentre study of the SQRTPA and EUROCRINE® databases

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek   +18 more
wiley   +1 more source

Different Risk Factors for Lymph Node Metastasis in Papillary Thyroid Carcinoma Patients with and without Hashimoto’s Thyroiditis

open access: yesInternational Journal of General Medicine
Jiwei Chen, Haifeng Zhong, Yuedong Wang Department of Thyroid Surgery, Meizhou People’s Hospital, Meizhou, People’s Republic of ChinaCorrespondence: Haifeng Zhong, Department of Thyroid Surgery, Meizhou People’s Hospital, Meizhou, People’s Republic of ...
Chen J, Zhong H, Wang Y
doaj  

Schizophrenia Genetics Modulates Clinical Depressive Features

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti   +13 more
wiley   +1 more source

Associations between prenatal exposure to organochlorine pesticides and thyroid hormone levels in mothers and infants: The Hokkaido study on environment and children's health

open access: green, 2020
Keiko Yamazaki   +10 more
openalex   +2 more sources

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé   +5 more
wiley   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark   +15 more
wiley   +1 more source

Parathyroid Double Adenoma Associated with Papillary Carcinoma of Thyroid [PDF]

open access: yes
It has been reported that thyroid disease is common in patients with hyperparathyroidism, and vice versa. Parathyroid adenoma is the most common cause of primary hyperparathyroidism (PHPT).
ایرانپرور, منوچهر   +3 more
core  

Pulmonary metastasectomy for thyroid cancer as salvage therapy for radioactive iodine-refractory metastases† [PDF]

open access: bronze, 2017
Isabelle Moneke   +7 more
openalex   +1 more source

Engineering Ultrasound Contrast Agents for Targeted Therapeutics: A Theranostic Approach to Drug Delivery, Gene Therapy, and Immunomodulation

open access: yesAdvanced NanoBiomed Research, EarlyView.
Ultrasound contrast agents, including microbubbles and nanobubbles, transform imaging and targeted therapy through precise engineering of size, shell composition, and surface properties. This review explores how these innovations enable tissue‐specific delivery, enhance therapeutic efficacy, and extend applications from vascular imaging to tumor ...
Ashkan Seza   +2 more
wiley   +1 more source

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