Results 51 to 60 of about 226,707 (335)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Study protocol: a randomised controlled trial on the clinical effects of levothyroxine treatment for subclinical hypothyroidism in people aged 80 years and over [PDF]

, 2018
Background: Subclinical hypothyroidism is common in older people and its contribution to health and disease needs to be elucidated further. Observational and clinical trial data on the clinical effects of subclinical hypothyroidism in persons aged 80 ...
Blum, M.R., Dekkers, O.M., Den Elzen, W.P.J., Du Puy, R.S., Ford, I., Gussekloo, J., Jukema, J.W., Kean, S., Kearney, P.M., Messow, C.M., Mooijaart, S.P., Peeters, R.P., Poortvliet, R.K.E., Postmus, I., Rodondi, N., Smit, J.W.A., Stott, D.J., van Munster, B.C., Watt, T., Westendorp, R.G.J., Wolffenbuttel, B.H.R.   +20 more
core   +8 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]

, 1996
Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Felice, Alex, Parascandalo, Raymond, Rizzo, M., Vassallo Agius, Paul   +3 more
core  

The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR [PDF]

, 2019
1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB).
Biebermann, Heike, Grüters-Kieslich, Annette, Kalveram, Laura, Kleinau, Gunnar, Rivero-Müller, Adolfo, Scheerer, Patrick, Szymańska, Kamila   +6 more
core   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Combined atypical primary hypoadrenocorticism and primary hypothyroidism in a dog [PDF]

, 2016
A dog with combined atypical primary hypoadrenocorticism and primary hypothyroidism is described. The dog presented with waxing and waning, vague complaints since more than a year and had been treated with several drugs without complete resolution of ...
Binst, Dominique, Daminet, Sylvie, Martlé, Valentine, Paepe, Dominique, Smets, Pascale, Vanmal, Britt   +5 more
core  

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]

, 2014
<b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm, Hermanns, Pia, Jones, Jez, Mansor, Mohamed, Pohlenz, Joachim, Schulga, John, Shepherd, Scott   +6 more
core   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Subclinical hypothyroidism and symptoms of depression: Evidence from the National Health and Nutrition Examination Surveys (NHANES)

Comprehensive Psychiatry, 2021
Background: Subclinical hypothyroidism has been associated with increased risk for depression, yet the findings remain controversial. It is possible that subclinical hypothyroidism is associated with some, but not all symptoms of depression.
Jaakko Airaksinen, Kaisla Komulainen, Regina García-Velázquez, Ilmari Määttänen, Kia Gluschkoff, Kateryna Savelieva, Markus Jokela   +6 more
doaj