Results 71 to 80 of about 228,263 (297)
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
Molecular Therapy: Methods & Clinical DevelopmentMucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik +5 more
doaj
Health state of female adolescents as students of colledges of primary and secondary professional education [PDF]
Саратовский научно-медицинский журнал, 2011 The article concerns somatic and reproductive health issues (menstrual cycle and functioning of mammary glands). The data has been received from of the total examination and questionnaires of female adolescents.
Aiberman A.S. +2 more
doaj
Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity
Indian Journal of Dermatology, 2014 We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents.
Sangita Ghosh +2 more
doaj +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Epilepsia Open, EarlyView., 2022 Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force initiated the TASK3 working group to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Eleonora Aronica +6 more
wiley +1 more source
Anodontia: Report of a case associated with ectodermal dysplasia of the anhidrotic type [PDF]
, 1944 Ronald Grant, Harold F. Falls
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source
Epilepsia Open, EarlyView., 2022 Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou +7 more
wiley +1 more source