18 documents found, page 1 of 2
Performance of mutation pathogenicity prediction tools on missense variants ass...
Montenegro, Luciana R.; Lerário, Antônio M.; Nishi, Miriam Y.; Jorge, Alexander A. L.; Mendonca, Berenice B.OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare diseasecausing SNVs remains challenging, and often requires functional in vitro studies. Prioritizing the most li...
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unkno...
Jorge, Alexander A. L.
BCL11B mutations in patients affected by a neurodevelopmental disorder with red...
Jorge, Alexander A. L.
Long-term response to growth hormone therapy in a patient with short stature ca...
Jorge, Alexander A. L.
Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutatio...
Jorge, Alexander A. L.
The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Se...
Jorge, Alexander A. L.
Autosomal recessive form of isolated growth hormone deficiency is more frequent...
Jorge, Alexander A. L.
Relatively high frequency of non-synonymous GLI2 variants in patients with cong...
Jorge, Alexander A. L.
Analysis of the insulin-like growth factor 1 receptor gene in children born sma...
Jorge, Alexander A. L.