4 documents found, page 1 of 1
Nucleotide-level resolution of a complex chromosomal rearrangement associated w...
Cardoso, M.; Oliva-Teles, N.; Tkachenko, N.; Talkowski, M.E.; Morton, C.C.; Fortuna, A.M.; David, D.Chromothripsis is an extreme form of complex chromosomal rearrangement (CCR), characterized by a localized shattering and random reassembly of genomic fragments. The aim of this study is the characterization at sequence-level resolution of a cytogenetically identified CCR 46,XY,t(7;14)(q21.13;q31),inv(15)(q21.2q26.1) associated with cognitive disabilities, and intrafamilial phenotype-genotype correlation analys...
Disruption of WDR26 by a translocation breakpoint confirms its causal role in S...
Freixo, J.P.; Marques, M.; Fino, J.; Carvalho, I.; Talkowski, M.E.; Morton, C.; David, D.Introduction: Microdeletions or contiguous gene syndromes are characterized by variable complex clinical phenotypes caused by hemizygosity of contiguous genes, defined mainly by a common deletion region, or of a major causal gene locus. Delineation of the pathogenic genes within these CGS regions is a major challenge. Identification of breakpoints at nucleotide resolution of balanced chromosomal rearrangements ...
KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond ...
Carvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D.Introduction: KBG syndrome (OMIM #148050) is a rare disorder characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, short stature and developmental delay. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Although this is an autosomal dominant condition p...
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Por...
David, D.; Ventura, C.; Moreira, I.; Diniz, M.; Antunes, M.; Tavares, A.; Araújo, F.; Morais, S.; Campos, M.; Lavinha, J.; Kemball-Cook, G.Disease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are novel. Molecular modeling allowed prediction of the conformational changes...