Results 71 to 80 of about 78,073 (260)
Brazilian Archives of Biology and Technology, 2008 In this study, five species of marine fishes from the Paranaguá Bay in the Brazilian coast were evaluated. Eucinostomus argenteus and Diapterus rhombeus (Gerreidae) presented 48 chromosomes, all of which more acrocentric (FN = 48); Strongylura timucu and
Roger Raupp Cipriano +6 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
Chromosomal evolution in small mammals (Insectivora, Chiroptera, Rodentia)
Hystrix, the Italian Journal of Mammalogy, 2000 <strong>Abstract</strong> Extensive descriptive, comparative, and experimental research on the chromosomes of natural populations of small mammals has been conducted in the last 50 years.
Jan Zima
doaj +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients
Journal of Biomedicine and Translational Research, 2018 Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders.
Aisha Balkhar Ali +3 more
doaj +1 more source
Animal Research and One Health, EarlyView.Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao +11 more
wiley +1 more source