A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]
, 2018 Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander +7 more
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Agrology, 2019 By means of the analysis of genetic structure was revealed the specificity of allele frequency distribution and genotypic composition of protein system loci.
D. M. Postoienko
doaj +1 more source
Chromosome structure in phage T4, II. Terminal redundancy and heterozygosis. [PDF]
Proceedings of the National Academy of Sciences, 1965 In a previous communnication' it was suggested that the chromosome of each particle of phage T4 is terminally redundant, and that after several rounds of replication (following infection), progeny chromosomes arise which have circularly permuted genetic sequences.
J, Séchaud +6 more
openaire +2 more sources
Talassemia β heterozigotica com triplicação do gene α globínico.
Acta Médica Portuguesa, 2011 We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia.
Ma Conceição Constanço +3 more
doaj +1 more source
A child with hyperferritinemia: Case report [PDF]
, 2011 Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated with the risk of developing a bilateral nuclear ...
Melania Serra +4 more
core +2 more sources
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia [PDF]
, 2015 Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).Methods: Electronic message was sent to members from Endocrinology Department-Brazilian Society of ...
Della Manna, Thais +5 more
core +3 more sources
Frontiers in Genetics, 2020 IntroductionPathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS).
Michelle T. P. Riguetti +6 more
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Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]
, 2016 open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca +10 more
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Organs on chip approach: A tool to evaluate cancer-immune cells interactions [PDF]
, 2017 In this paper we discuss the applicability of numerical descriptors and statistical physics concepts to characterize complex biological systems observed at microscopic level through organ on chip approach. To this end, we employ data collected on a micro
Agliari, Elena +15 more
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Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area [PDF]
, 2018 Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and
Andrés, N. +2 more
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