Results 271 to 280 of about 3,786,126 (364)

Identification of genetic variants in patients with primary and secondary amenorrhea. [PDF]

Saudi Med J
Bai F, Nambiar R, Padhiar C, Aruni W, Veeramani C, Alsaif MA, Al-Numair KS.   +6 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies. [PDF]

Int J Mol Sci
Covarelli J, Vinciarelli E, Mirarchi A, Prontera P, Arcuri C.   +4 more
europepmc   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]

J Inherit Metab Dis
Veitia RA, Zschocke J, Birchler JA.
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review. [PDF]

Glob Med Genet
Lien JC, Chandrasekaran VD, Narumanchi TM, Napoli MS, Peterson JEG, Williams CA.   +5 more
europepmc   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome. [PDF]

J Neurodev Disord
Croyé MA, Freilinger P, Jürgenlimke H, Domes G, Meyer J.   +4 more
europepmc   +1 more source