Results 121 to 130 of about 48,299 (209)

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

Inflammation Associated With Obesity, Aging, and Amyloid Burden in Adults With Down Syndrome

Obesity, Volume 34, Issue 7, Page 1457-1467, July 2026.
ABSTRACT Objective Adults with Down syndrome (DS) often show elevated systemic inflammation, but the association with obesity, aging, and Alzheimer's disease (AD) pathology is not well understood. Methods Data were drawn from 188 nondemented adults with DS participating in the Alzheimer Biomarkers Consortium‐DS (ABC‐DS). Participants completed clinical
Victoria L. Fleming‐Batayneh, Brian C. Helsel, Lauren T. Ptomey, Benjamin L. Handen, Mark Mapstone, Melissa Petersen, Sharon J. Krinsky‐McHale, Christy L. Hom, Davneet Minhas, Weiquan Luo, Charles Laymon, Joseph H. Lee, Annie Cohen, Beau M. Ances, Adam M. Brickman, Margaret Pulsifer, H. Diana Rosas, Florencia Lai, Shahid H. Zaman, Elizabeth Head, Dana Tudorascu, Julie Price, Fredrick Schmitt, Bradley T. Christian, Ozioma Okonkwo, Sigan L. Hartley, for the Alzheimer Biomarkers Consortium‐Down Syndrome (ABC‐DS) Investigators, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus M. Birn, Adam M. Brickman, Peter Bulova, Jeff Burns, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Ann D. Cohen, Eric W. Doran, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Elizabeth Head, Denise Head, Christy Hom, Lawrence Honig, Milos D. Ikonomovic, Sterling C. Johnson, M. Ilyas Kamboh, David Keator, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky‐McHale, Florence Lai, Patrick Lao, Charles Laymon, Joseph Hyungwoo Lee, Ira T. Lott, Victoria Lupson, Mark Mapstone, Davneet Singh Minhas, Neelesh Nadkarni, Sid O'Bryant, Deborah Pang, Melissa Petersen, Julie C. Price, Lauren Ptomey, Margaret Pulsifer, Michael S. Rafii, Herminia Diana Rosas, Frederick Schmitt, Nicole Schupf, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Badri Varadarajan, Michael A. Yassa, Shahid Zaman, Fan Zhang   +80 more
wiley   +1 more source

First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study. [PDF]

Int J Fertil Steril, 2023
Harfsheno M, Barati M, Roohandeh A.
europepmc   +1 more source

Maternal, childhood and adolescent influences on Leydig cell functional capacity and circulating INSL3 concentration in young adults: Importance of childhood infections and body mass index

Andrology, Volume 14, Issue 5, Page 1172-1182, July 2026.
Abstract Background The constitutive Leydig cell hormone insulin‐like peptide 3 (INSL3) is considered a good estimate of the adult Leydig cell functional capacity and appears to remain relatively consistent throughout adult male life, only gradually declining into old age.
Richard Ivell, Bilal Tulumcu, Waleed Alhujaili, Ravinder Anand‐Ivell   +3 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Severe Progression of Scoliosis Beyond Skeletal Maturity in Partial Trisomy 13: A Case Report Expanding the Phenotypic Spectrum. [PDF]

Cureus
Fabregas A, Lugo E, Nice E, Gupta VP, Samdani AF.   +4 more
europepmc   +1 more source

Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2

Journal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Mutations in the MECP2 gene, encoding the epigenetic reader Methyl‐CpG binding protein 2, are the main cause of Rett syndrome, a rare neurodevelopmental disorder. Besides severe symptoms such as profound intellectual disability, loss of speech and motor skills, and epilepsy, loss of function of MECP2 has been associated with pubertal ...
Ana Martín‐Sánchez, Daniela Jiménez‐Díaz, Rafael Esteve‐Pérez, Alexandru Vasile‐Tudorache, Jordan E. Read, Sasha R. Howard, Carmen Agustín‐Pavón   +6 more
wiley   +1 more source

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali. [PDF]

Clin Case Rep
Maiga AB, Samassekou O, Sidibé CO, Traoré O, Maiga B, Traoré M, Guinto CO, Landouré G.   +7 more
europepmc   +1 more source

Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases. [PDF]

Front Genet, 2022
Zhang Y, Xu H, Zhang W, Liu K.
europepmc   +1 more source

Patterns of congenital anomalies among individuals with trisomy 13 in Texas. [PDF]

Am J Med Genet A, 2021
Diaz D, Benjamin RH, Navarro Sanchez ML, Mitchell LE, Langlois PH, Canfield MA, Chen H, Scheuerle AE, Schaaf CP, Scott DA, Northrup H, Ray JW, McLean SD, Swartz MD, Ludorf KL, Lupo PJ, Agopian AJ.   +16 more
europepmc   +1 more source