Results 171 to 180 of about 1,147,749 (362)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

European multicentre study on outcome of surgery for sporadic primary hyperparathyroidism

BJS (British Journal of Surgery), EarlyView., 2020
Some 5861 patients undergoing first‐time surgery for sporadic primary hyperparathyroidism were registered in the Eurocrine® database between 2015 and 2018. The use of intraoperative parathyroid hormone measurement decreased the risk of conversion and persistent hypercalcaemia.
A. Bergenfelz, S. van Slycke, Ö. Makay, L. Brunaud   +3 more
wiley   +1 more source

EFFECTS OF PARA AMINOBENZOIC ACID AND THIOURACIL ON THYROID FUNCTION AND RESISTANCE TO LOW PRESSURES¹ [PDF]

, 1945
Michael Gordon, E. D. Goldsmith, Harry A. Charipper   +2 more
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

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

BJS (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, M. Almquist, A. O. Bergenfelz, T. J. Musholt, E. Nordenström, on behalf of the EUROCRINE® Council, M. Almquist, M. Barczynski, L. Brunaud, T. Clerici, M. H. Hansen, M. Iacobone, Ö. Makay, F. F. Palazzo, N. Muñoz‐Pérez, M. Raffaelli, P. Riss, S. van Slycke, M. R. Vriens   +18 more
wiley   +1 more source

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

International 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  

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

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, دادخواه, مینو, رستمی, خلیل, پورفرضی, فرهاد   +3 more
core  

Basal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell, Harry A. Smith, Harriet A. Carroll, Yung‐Chih Chen, Dylan Thompson, Javier T. Gonzalez, Greg Atkinson, James A. Betts   +7 more
wiley   +1 more source

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

American 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, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

DOSAGE IN THE THERAPEUTIC ADMINISTRATION OF THYROID GLAND SUBSTANCE [PDF]

, 1917
A. E. Carver
openalex   +1 more source