Results 211 to 220 of about 461,287 (304)

Maternal body mass index in early pregnancy and offspring mortality up to early adulthood: A nationwide cohort study. [PDF]

PLoS Med
Wang H, Chen H, Möller J, Liang Y, László KD.   +4 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Long-Term Offspring Outcomes Following Parental Exposure to BCR::ABL1 Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia: A Retrospective Cohort Study with Follow-Up to 24.6 Years. [PDF]

Cancers (Basel)
Pál S, Solymár M, Alizadeh H.
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

The association between maternal diabetes and the risk of epilepsy in offspring: a systematic review and meta-analysis. [PDF]

Front Endocrinol (Lausanne)
Zeng H, Long D, Geng Y, Li X, Zhou H, Liu X, Lei Y.   +6 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Prophage Activation Triggers Extracellular Synthesis of DNA in Bacterial Biofilms via Rolling Circle Replication

Angewandte Chemie, EarlyView.
Shewanella oneidensis and Bacillus subtilis, both harboring prophages, reveal a novel biosynthetic route to scalable and programmable DNA superstructures in flower‐ and wire‐like shapes, respectively. Activation of prophages is achieved via 3‐hour starvation and monitored using reporter strains.
Gabriel Antonio S. Minero, Line Mørkholt Lund, Lasse Hyldgaard Klausen, Obinna Markraphael Ajunwa, Mingdong Dong, Rikke Louise Meyer, Victoria Birkedal, Kai Thormann   +7 more
wiley   +2 more sources

Placental Pathophysiology and Developmental Programming of Adult Cardiometabolic Risk: A Narrative Review of Pregnancy Exposures. [PDF]

Pathophysiology
Panteris E, Kakatsaki I, Koukou Z, Kolvatzis C, Papanikolaou S, Hatzidaki E.   +5 more
europepmc   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Perinatal exposure to nano-polystyrene: deleterious imprinting on inflammatory bowel diseases. [PDF]

Part Fibre Toxicol
Airaud M, Roldan A, Le Cléac'h J, Isoard L, Carrière M, Ménard S, Barreau F.   +6 more
europepmc   +1 more source