Results 201 to 210 of about 1,680,257 (302)

Quantitative effects of sex hormones on hair growth and patient satisfaction.

J Clin Endocrinol Metab
de Kroon RWPM, Strating J, Heijboer AC, den Heijer M.   +3 more
europepmc   +1 more source

Exploring the Causal Relationship Between Sex Hormones and Depression by Means of Two-Sample Mendelian Randomization Analysis. [PDF]

Actas Esp Psiquiatr
Gao H, Du X, Huo Y, Pan H, Xu Y, Hou Y.
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

The Exchangeable Copper-Zinc Ratio Links Sex Hormones, Tumor Burden, and Epithelial Remodeling in Colorectal Cancer. [PDF]

Biomolecules
Squitti R, De Luca A, Severino A, Rizzo G, Amodio LE, Marzi F, Vicano G, Cozzolino M, Lombardi A, Rongioletti M, Tondolo V.   +10 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

STARSHIP: Study of Telomeres And Role of Sex Hormones In Pulmonary fibrosis

Duckworth A, Prague JK, Knight B, Norris K, Emms H, Goodrum S, Crook CS, Sayers R, Steward M, Thould H, Savill A, Mandizha J, Lines S, Barnes A, Kirkwood J, Almond H, Lunnon K, Lindsay MA, Tyrrell J, Stanel S, Baird DM, Russell A, Rivera-Ortega P, Gibbons MA, Scotton CJ.   +24 more
europepmc   +1 more source

A literature overview of age- and Tanner stage-specific reference intervals for sex hormones for children aged 0-18 years. [PDF]

J Mol Endocrinol
Olthof A, Boelen A, Hillebrand JJ, Hannema SE, Heijboer AC.   +4 more
europepmc   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

The impact of sex hormones and sex chromosomes on the HDL anti-inflammatory capacity in transgender individuals. [PDF]

J Lipid Res
Vankova A, Tillander V, Lei Y, Connelly MA, Arver S, Wiik A, Gustafsson T, Tietge UJF.   +7 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source