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Genomic imprinting and human chromosome 15
(Sociedad de Biología de Chile, 2001)
Genomic imprinting and human chromosome 15
(SOCIEDAD BIOLGIA CHILE, 2001)
Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin, The best characterized human disorders resulting from an alteration Of the imprinting process are ...
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
(Elsevier Science BvAmsterdamHolanda, 2013)
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
(BioMed Central, 2015)
Abstract
Background
About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element ...
Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence
(Wiley-lissNew YorkEUA, 2002)
SHOX duplication and tall stature in a patient with Xq deletion and vascular disease
(Hindawi, 2019-06)
The anomalies of X chromosome are classified as numerical or structural. Concomitant structural anomalies in this chromosomethat associate partial loss of its long arm with duplications in its short arm are uncommon. Only ...
A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman
(Elsevier Inc, 2019)
Duchenne muscular dystrophy (DMD) is a neuromuscular X-linked recessive disease caused by mutations in DMD gene. Here, we present a family with a DMD symptomatic pregnant woman and two affected boys. One of them had a ...