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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(ELSEVIER SCIENCE BV, 2009)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases
(ELSEVIER IRELAND LTD, 2008)
Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velocardiofacial (VCFS) syndromes. The deletion of chromosome 22q11 has also been demonstrated in sporadic ...
Investigation Of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening And Copy Number Variation
(NATURE PUBLISHING GROUPNEW YORK, 2015)
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 ...
Estudo citogenético da região 7q11.23: a síndrome de Williams-Beuren
(Universidade Estadual Paulista (Unesp), 2003)
A síndrome de Williams-Beuren (SWB) é uma rara condição neurogenética causada por microdeleção hemizigótica da região cromossômica 7q11.23. Objetivos: Determinar a freqüência da microdeleção 7q11.23 (gene da elastina), ...
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
(BMJ Publishing Group, 2014)
OBJECTIVE:
Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated ...
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
(BMJ Publishing Group, 2014)
OBJECTIVE:
Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated ...