Sentence examples for core phenotype of from inspiring English sources

Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency.

However, group-wise analyses comparing the C9ORF72 mutation cases with healthy controls and with other mutation groups suggested certain common features that may constitute a core phenotype of this mutation.

Nevertheless, the individual complex members appear to have important functions in vivo as mutations of the NSL complex member KANSL1 cause the core phenotype of the 17q21.31 microdeletion syndrome (Koolen et al., 2012; Zollino et al., 2012) and are common amongst patients with both Down syndrome and myeloid leukemia (Yoshida et al., 2013).

Since the core phenotype of the three patients carrying FOXP1 deletions consisted of MR with significant speech and language deficits, we additionally sequenced FOXP1 coding exons in DNA of 40 patients with a tentative diagnosis of Angelman syndrome (without microcephaly and negative for SNRPN imprinting).

Genetic variation in SLC1A2 has been implicated in a range of neurological and neuropsychiatric conditions including schizophrenia (SZ), autism and in core phenotypes of bipolar disorder (BD).

The presence of speech and language abnormalities, macrocephaly and PDD in this child coincides with previously reported core phenotypes of chromosome 16p deletions.

These findings may be consistent with previous diffusion tensor imaging studies in patients with BP 49– 54 and core phenotypes of BP 55– 55.

Later studies demonstrated that VCP mutations express significant clinical heterogeneity and patients can present with all, a combination of two or just one of the three core phenotypes of IBMPFD [ 24, 36].

Since the essence of the PGAS approach is not to identify potential risk genes for schizophrenia but to understand the contribution of a particular genotype to normal and to disease phenotypes, we moved on to investigate the impact of KCNN3 on core phenotypes of schizophrenia, i.e. cognition, positive and negative symptoms.

The resulting liability index can be used as the core phenotype for subsequent analyses searching for specific causal genes and functional genetic variants of relevance to psychiatric disease.

Demonstrating the co-segregation of MdMYB10 with the inheritance of the red fruit core phenotype suggests that the altered expression of the MdMYB10 is the result of a change either in the upstream regulatory region of MdMYB10, elevating its expression in apple fruit, or in its RNA secondary structure, altering the RNA stability of the MdMYB10 transcript of the red-fleshed allele.