Results 71 to 80 of about 43,706 (302)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
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Genetics and Molecular Biology, 2008 The genus Callistomys belongs to the rodent family Echimyidae, subfamily Echimyinae, and its only living representative is Callistomys pictus, a rare and vulnerable endemic species of the state of Bahia, Brazil. Callistomys has been previously classified
Karen Ventura +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Taxonomic revision of Disporum Salisb. (Colchicaceae, Uvularioideae) of Taiwan [PDF]
PhytoKeys, 2019 A taxonomic revision of Disporum of Taiwan is presented with two species and one variety being recognised. The diagnostic characters of Disporum include the colour of tepals, stolon morphology, the trichomes of filaments and style and leaf morphology ...
Chao Chien-Ti, Tseng Yen-Hsueh
doaj +3 more sources
European Journal of Entomology, 2021 We present an open (publicly available) and updatable database of the karyotypes of Blattodea which is available at http://web.natur.cuni.cz/zoologie/arthropods/blattodeadatabase/index.html. This database currently contains data on chromosome numbers and
Marek JANKÁSEK +2 more
doaj +1 more source
, 1992 Number of Pages: 4Integrative BiologyGeological ...
Malhotra, Anita, Thorpe, Roger S.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies. [PDF]
, 2014 BackgroundSupernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals.
Blumenthal, Jonathan D +6 more
core +3 more sources
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
Gayana, 2008 Mesodesma donacium is a marine clam distributed from Sechura Bay (5°S) in northern Perú to Chiloé Island (43ºS) in southern Chile. Due to the commercial importance of this species, their populations have been reduced in the later years.
Gabriel Amar +3 more
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