Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum +4 more
wiley +1 more source
Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3. [PDF]
Fontanil H +3 more
europepmc +1 more source
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao +13 more
wiley +1 more source
Different Maternal Quality Aspects Covary With the Offspring Sex Ratio and Condition in Bearded Reedlings (<i>Panurus biarmicus</i>). [PDF]
Hoi H +3 more
europepmc +1 more source
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik +9 more
wiley +1 more source
Alternative polyadenylation and metabolic profiling in young panicle development of hybrid rice and its parents. [PDF]
Wu G +10 more
europepmc +1 more source
CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin +12 more
wiley +1 more source
Paternal effects without paternity? Testing non-genetic male influence on offspring size and brood size in a gynogenetic vertebrate, the Amazon molly (Poecilia formosa). [PDF]
Scherer U +4 more
europepmc +1 more source
Joint Estimation of Paternity, Sibships and Pollen Dispersal in a Snapdragon Hybrid Zone. [PDF]
Ellis TJ, Field DL, Barton NH.
europepmc +1 more source

