Leonardo D'Agruma

Summary

Affiliation: San Giovanni Rotondo
Country: Italy

Publications

  1. pmc Candidate gene study of HOXB1 in autism spectrum disorder
    Lucia A Muscarella
    Medical Genetics Service, IRCCS Casa Sollievo dalla Sofferenza, San Giovanni Rotondo, FG, Italy
    Mol Autism 1:9. 2010
  2. doi request reprint CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
    Vito 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
  3. ncbi request reprint HOXA1 gene variants influence head growth rates in humans
    Lucia 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
  4. doi request reprint Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family
    Sandra Mastroianno
    Unit of Cardiology, Scientific Institute Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Italy
    Endocrine 40:481-5. 2011
  5. doi request reprint VHL gene alterations in Italian patients with isolated renal cell carcinomas
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Int J Biol Markers 28:208-15. 2013
  6. ncbi request reprint Identification of two novel mutations and of a novel critical region in the KRIT1 gene
    Vito 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
  7. doi request reprint CASR gene activating mutations in two families with autosomal dominant hypocalcemia
    Vito 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

Detail Information

Publications7

  1. pmc Candidate gene study of HOXB1 in autism spectrum disorder
    Lucia 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...
  2. doi request reprint CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
    Vito 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
    ....
  3. ncbi request reprint HOXA1 gene variants influence head growth rates in humans
    Lucia 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...
  4. doi request reprint Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family
    Sandra Mastroianno
    Unit of Cardiology, Scientific Institute Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo, Italy
    Endocrine 40:481-5. 2011
    ....
  5. doi request reprint VHL gene alterations in Italian patients with isolated renal cell carcinomas
    Lucia Anna Muscarella
    Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy
    Int J Biol Markers 28:208-15. 2013
    ....
  6. ncbi request reprint Identification of two novel mutations and of a novel critical region in the KRIT1 gene
    Vito 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...
  7. doi request reprint CASR gene activating mutations in two families with autosomal dominant hypocalcemia
    Vito 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...