To use all functions of this page, please activate cookies in your browser.
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
2,827 Newest Publications in human molecular geneticsrss
|You can refine your search further. Select from the filter options on the left to narrow down your results.|
18-Jun-2018 | Bellesso S, Salvalaio M, Lualdi S, et al., Human Molecular Genetics, 2018
Human Molecular Genetics, 2018, 27(13), 2262–2275.
24-Apr-2018 | Yu Q, Lin B, Xie S, et al., Human Molecular Genetics, 2018
Abstract Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have been identified for these syndromes ...
12-Apr-2018 | Warrington N, Shevroja E, Hemani G, et al., Human Molecular Genetics, 2018
Abstract The ratio of the length of the index finger to that of the ring finger (2D:4D) is sexually dimorphic and is commonly used as a non-invasive biomarker of prenatal androgen exposure. Most association studies of 2D:4D ratio with a diverse range of sex-specific traits have typically involved ...
10-Apr-2018 | Sliz E, Sebert S, Würtz P, et al., Human Molecular Genetics, 2018
Abstract Fatty liver has been associated with unfavourable metabolic changes in circulation. To provide insights in fatty liver-related metabolic deviations, we compared metabolic association profile of fatty liver versus metabolic association profiles of genotypes increasing the risk of ...
10-Apr-2018 | Bellesso S, Salvalaio M, Lualdi S, et al., Human Molecular Genetics, 2018
Abstract Skeletal abnormalities represent a major clinical burden in patients affected by the lysosomal storage disorder mucopolysaccharidosis type II (MPSII, OMIM #309900). While extensive research has emphasized the detrimental role of stored glycosaminoglycans (GAGs) in the bone marrow (BM), a ...
28-Mar-2018 | Jordan V, Beck T, Hernandez-Garcia A, et al., Human Molecular Genetics, 2018
Abstract Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex ...
24-Mar-2018 | Jacquemont S, Pacini L, Jønch A, et al., Human Molecular Genetics, 2018
Abstract Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits ...
21-Mar-2018 | Canali G, Garcia M, Hivert B, et al., Human Molecular Genetics, 2018
Abstract The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are ...
16-Mar-2018 | Chen A, Tiosano D, Guran T, et al., Human Molecular Genetics, 2018
Abstract Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however, the genetic etiology of ...
15-Mar-2018 | Peng Y, Shinde D, Alexander Valencia C, et al., Human Molecular Genetics, 2018
Human Molecular Genetics, 2017, 26(24), 4937–4950.