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Microdeletion and microduplication syndromes
(Histochemical Society, 2014)
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
(Sociedad de Biología de Chile, 2009)
Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype
(Associação Brasileira de Divulgação Científica, 2008)
Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi ...
Absence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias
(Freund Publishing House Ltd, 2004)
Microdeletions of the Y chromosome have been observed in some patients with cryptorchidism and severe defects of spermatogenesis. We investigated whether microdeletions of the Y chromosome may be present in patients with ...
Growth in chilean infants with chromosome 22q11 microdeletion syndrome
(WILEY-LISS, 2012)
Growth in chilean infants with chromosome 22q11 microdeletion syndrome
(WILEY-BLACKWELL, 2012)