Results 211 to 220 of about 74,629 (302)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Metabolic control of luteinizing hormone-responsive ovarian steroidogenesis. [PDF]

open access: yesJ Biol Chem
Przygrodzka E   +6 more
europepmc   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 more
wiley   +1 more source

Critical role of arcuate nucleus kisspeptin and Kiss1R in regulation of the ovine luteinizing hormone surge. [PDF]

open access: yesJ Neuroendocrinol
Griesgraber MJ   +10 more
europepmc   +1 more source

Stage IIIC Bilateral Dysgerminoma in a 16‐Year‐Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dysgerminoma, the most common malignant ovarian germ cell tumor, has a significantly increased incidence in individuals with 46,XY complete gonadal dysgenesis (Swyer syndrome). However, primary amenorrhea is the hallmark presentation of Swyer syndrome in adolescence.
Mahshid Vasef   +4 more
wiley   +1 more source

Homozygous TFR2 (c.2093_2096del) Mutation in an Asymptomatic Patient With Type 3 Hereditary Hemochromatosis, First Report From Saudi Arabia

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Hereditary hemochromatosis (HH) is an inherited disorder of iron metabolism characterized by progressive iron accumulation in multiple organs. While most cases are associated with HFE mutations, non‐HFE variants such as mutations in the transferrin receptor‐2 (TFR2) gene represent rare causes of iron overload.
Omar M. Raslan, Dana S. Alamoudi
wiley   +1 more source

Lactate metabolism and lactylation in female reproductive diseases: From metabolic rewiring to biomarkers and translational therapeutics

open access: yesClinical and Translational Medicine, Volume 16, Issue 6, June 2026.
1. Lactate‐derived histone lactylation links glycolytic reprogramming to epigenetic regulation in female reproductive diseases. 2. In endometriosis, lactylation may promote inflammatory remodelling, immune dysregulation and ferroptosis resistance. 3. In PCOS, lactylation connects metabolic disturbance to granulosa‐cell dysfunction and hyperandrogenism.
Jiajun Qiao   +5 more
wiley   +1 more source

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