Results 61 to 70 of about 15,773 (268)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source
Paternalism in Radiology? [PDF]
American Journal of Neuroradiology, 2012 I read with great interest the article “Vertebral Endplate Changes Are Not Associated with Chronic Low Back Pain among Southern European Subjects: A Case Control Study” by Kovacs et al.[1][1] Their article demonstrates the challenges we face when attempting to correlate imaging findings ...
openaire +2 more sources
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Multilocus DNA fingerprinting in paternity analysis: a Chilean experience
Genetics and Molecular Biology, 2000 DNA polymorphism is very useful in paternity analysis. The present paper describes paternity studies done using DNA profiles obtained with the (CAC)5 probe. All of the subjects studied were involved in nonjudicial cases of paternity. Genomic DNA digested
Cifuentes O. Lucía +4 more
doaj
Fishes, 2019 Microsatellite markers were used to investigate the reproductive behavior of the damselfish Abudefduf sordidus at Johnston Atoll, Central Pacific Ocean.
Lisa Kerr Lobel +3 more
doaj +1 more source
Journal of Medical Ethics, 2016 In the mid 21st century, humans finally established a small community on Mars. The Martian colony grew slowly over its first 50 years. There were substantial technical challenges to living in the artificial biospheres. Early colonists had to accept significant restrictions because of the harshness of the environment, and the limited shared physical ...
openaire +2 more sources
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 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
Acta Scientiarum: Biological Sciences, 2009 A progeny of Cambona-4, a female maté plant (Ilex paraguariensis) selected by its agronomical characteristics and mild flavor, was evaluated using RAPD markers in order to identify its male parents.
Rogério Luis Cansian +5 more
doaj +1 more source