Results 201 to 210 of about 2,239,849 (408)

Prospective study of effect of fenclofenac on thyroid function tests. [PDF]

, 1980
Robert L. Taylor, F. CLARK, I.D. Griffiths, J. Weeke   +3 more
openalex   +1 more source

Pituitary hyperplasia mimicking macroadenoma associated with primary hypothyroidism in a patient with selective L-thyroxine malabsorption [PDF]

, 2017
We present the case of a 29-year-old woman who developed a severe hypothyroidism induced by a thyroxine malabsorption and a secondary pituitary hyperplasia.
Romanelli, Francesco, Sansone, Andrea, Sansone, Massimiliano, Tedone, Radha, Vena, Walter   +4 more
core   +1 more source

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

The impact of covid-19 on thyroid function tests in pregnancy. [PDF]

Endocrine, 2023
Atalay A, Besimoglu B, Sinaci S, Kaya E, Ozkavak O, Ocal FD, Ozgu-Erdinc AS, Sahin D.   +7 more
europepmc   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Thyroid Function and Antithyroid Antibodies in Vitiligo: A Case Control Study

مجله دانشکده پزشکی اصفهان, 2012
Background: Vitiligo is a skin disease charachterized with loss of skin pigmentation and the lack of melanocytes in the epidermis.Its prevalence is estimated as 1-2% of the world population.
Samar Asgharzadeh Moghaddam, Fariba Jaffary, Mohammad Ali Nilforoushzadeh, Mahrokhsar Nazarian   +3 more
doaj  

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Assessment of thyroid function tests in patients with chronic obstructive pulmonary disease. [PDF]

J Med Life, 2022
Alshamari AHI, Deli F, Kadhum HI, Kadhim IJ.   +3 more
europepmc   +1 more source

An Evaluation of Serum Thyroxine Binding Globulin as a Routine Test of Thyroid Function

, 1979
D R McDowell
openalex   +1 more source

Are biochemical tests of thyroid function of any value in monitoring patients receiving thyroxine replacement? [PDF]

, 1986
William D. Fraser, E.M. Biggart, D S O’Reilly, H. W. Gray, James H. McKillop, J A Thomson   +5 more
openalex   +1 more source