Results 231 to 240 of about 79,932 (302)

A polygenic etiology for inherited thrombocytopenias of unknown origin. [PDF]

Hemasphere
Isidori F, Melazzini F, Santonastaso F, Marconi C, Bozzi V, Barozzi S, Mattiaccio A, Giangregorio T, Iovino E, Palumbo G, Sidore C, Pirastu N, Gialluisi A, Costanzo S, Iacoviello L, Soranzo N, Seri M, Pecci A, Pippucci T.   +18 more
europepmc   +1 more source

The Embryo at the European Court of Human Rights

The Modern Law Review, EarlyView.
Having a child by in vitro fertilisation (IVF) entails the creation of in vitro embryos, their transfer to a woman's uterus, a successful pregnancy, and live birth. Under the European Convention on Human Rights, using IVF principally engages the right to respect for private and family life under Article 8(1). The approach of the European Court of Human
Rosamund Scott
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity. [PDF]

Epilepsia Open
Seyedtaghia MR, Babanzadeh J, Scala M, Perilli L, Striano P.   +4 more
europepmc   +1 more source

Multi‐Omics Analysis Reveals Vitamin D Metabolism, Hyper‐IgE Genes, and Epithelial Barrier Dysfunction in Hazelnut Allergy

Allergy, EarlyView.
Multi‐omics profiling of hazelnut‐allergic versus nonallergic individuals identified 87 differentially methylated signals, 125 differentially expressed genes, and 11 differentially secreted proteins. Among these were ZNF341 and ARL2 (STAT3‐mediated hyper‐IgE dysregulation), alongside epithelial barrier (TRIM31, TRIM40, CDSN) and vitamin D pathway ...
Alexander C. S. N. Jeanrenaud, Aleix Arnau‐Soler, Ahla Ghauri, Ingo Marenholz, Philipp Mertins, Matthias Ziehm, Kirsten Beyer, Margitta Worm, Young‐Ae Lee   +8 more
wiley   +1 more source

Polygenic and monogenic adaptation drive evolutionary rescue at different magnitudes of environmental change. [PDF]

J Hered
Bellagio T, Exposito-Alonso M.
europepmc   +1 more source

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source

Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease. [PDF]

J Neurol
Guyler SK, Alfayyadh MM, Maksemous N, Lea RA, Smith RA, Sutherland HG, Griffiths LR.   +6 more
europepmc   +1 more source

Long‐Read Sequencing Resolves Phase in Prenatal Congenital Chloride Diarrhea Resulting From Inherited and de novo SLC26A3 Variants

Prenatal Diagnosis, EarlyView.
Himanshu Goel, Sheridan O'Donnell, Georgina Armstrong, Michael Buckley, Francesca Hart, Ying Zhu, Tony Roscioli, Javad Jamshidi   +7 more
wiley   +1 more source

The fetal phenotype is a trajectory, not a snapshot

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
The evolving fetal phenotype. Serial prenatal ultrasound may reveal emerging or changing fetal features that inform reassessment of genetic findings. Reporting the timing of observations, changes in the fetal phenotype and any subsequent revision of variant interpretation helps clarify the contribution of longitudinal imaging to prenatal diagnosis ...
Florian Recker, Adeline Walter, Ulrich Gembruch   +2 more
wiley   +1 more source