Results 261 to 270 of about 129,591 (344)

Birth prevalence, clinical sequelae, and management of congenital cytomegalovirus infections in Australia, 1999–2023: a national prospective study

Medical Journal of Australia, EarlyView.
Abstract Objectives To investigate the birth prevalence, clinical manifestations, and management of congenital cytomegalovirus (CMV) infections in Australia, 1999–2023. Study design Longitudinal observational study; analysis of prospectively collected Australian Paediatric Surveillance Unit (APSU) data. Setting, participants Australia, 1 January 1999 –
Ece Egilmezer, Suzy M Teutsch, Carlos Nunez, Stuart T Hamilton, Adam W Bartlett, Pamela Palasanthiran, Elizabeth J Elliott, William D Rawlinson   +7 more
wiley   +1 more source

Advances in Fetal Surgery: A Narrative Review of Therapeutic Interventions and Future Directions. [PDF]

Medicina (Kaunas)
Varthaliti A, Pergialiotis V, Theodora M, Lygizos V, Daskalaki MA, Antsaklis P, Daskalakis G.   +6 more
europepmc   +1 more source

Parvovirus B19 Infection in Pregnancy: Awareness of the Increased Incidence of Severe Intrauterine Infection. [PDF]

Diagnostics (Basel)
Torcia E, Familiari A, Passananti E, Alesi MV, di Marco G, Romanzi F, De Santis M, Ghi T, Bevilacqua E.   +8 more
europepmc   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Single fetal demise in twin anemia-polycythemia sequence: perinatal outcome of surviving cotwin. [PDF]

Ultrasound Obstet Gynecol
van de Sande MJA, Lopriore E, Lanna M, Ville Y, Lewi L, Weingertner AS, Ryan G, Otaño L, Klaritsch P, Blanco AMB, Bevilacqua E, Slaghekke F, Tollenaar LSA.   +12 more
europepmc   +1 more source

End points for sickle cell disease clinical trials: Patient-reported outcomes, pain, and the brain [PDF]

, 2019
al., et, Farrell, Ann T., King, Allison A.   +2 more
core   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Predictive Value of Dynamic Changes in Hemoglobin Levels During Early Pregnancy for the Development of Anemia During Pregnancy. [PDF]

Int J Womens Health
Liu L, Li X.
europepmc   +1 more source

End points for sickle cell disease clinical trials: Renal and cardiopulmonary, cure, and low-resource settings [PDF]

, 2019
al., et, Farrell, Ann T., Shenoy, Shalini   +2 more
core   +1 more source