Genomes and Genes
Affiliation: San Giovanni Rotondo
- Candidate gene study of HOXB1 in autism spectrum disorderLucia A Muscarella
Medical Genetics Service, IRCCS Casa Sollievo dalla Sofferenza, San Giovanni Rotondo, FG, Italy
Mol Autism 1:9. 2010..An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies...
- CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohortVito Guarnieri
Genetics Unit, Ospedale Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico, San Giovanni Rotondo, Foggia, Italy
Cell Oncol (Dordr) 35:411-22. 2012....
- VHL gene alterations in Italian patients with isolated renal cell carcinomasLucia Anna Muscarella
Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
Int J Biol Markers 28:208-15. 2013....
- HOXA1 gene variants influence head growth rates in humansLucia Anna Muscarella
Medical Genetics Service, I R C C S Casa Sollievo dalla Sofferenza, S Giovanni Rotondo, Foggia, Italy
Am J Med Genet B Neuropsychiatr Genet 144:388-90. 2007..This influence does not differ between normal and autistic children, whereas the lack of FMRP seemingly overwhelms HOXA1 effects in fragile-X patients...
- Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian familySandra Mastroianno
Unit of Cardiology, Scientific Institute Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Italy
Endocrine 40:481-5. 2011....
- Identification of two novel mutations and of a novel critical region in the KRIT1 geneVito Guarnieri
Medical Genetics Service, Poliambulatorio Giovanni Paolo II, IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013, San Giovanni Rotondo FG, Italy
Neurogenetics 8:29-37. 2007..Moreover, our genotype-phenotype functional correlation suggests that the C-terminal portion of the KRIT1 protein is likely to contain a short, previously unrecognized segment necessary for its activity...
- CASR gene activating mutations in two families with autosomal dominant hypocalcemiaVito Guarnieri
Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy
Mol Genet Metab 107:548-52. 2012..Biochemical features of ADH are hypocalcemia and hypercalciuria with inappropriately low levels of parathyroid hormone (PTH). We report on two four-generation families affected by ADH...