Mutations of the calcium‐sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia GN Hendy, L D'Souza‐Li, B Yang, L Canaff, DEC Cole Human mutation 16 (4), 281-296, 2000 | 328 | 2000 |
CASRdb: calcium‐sensing receptor locus‐specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe … S Pidasheva, L D'Souza‐Li, L Canaff, DEC Cole, GN Hendy Human mutation 24 (2), 107-111, 2004 | 172 | 2004 |
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia L D’Souza-Li, B Yang, L Canaff, M Bai, DA Hanley, M Bastepe, ... The Journal of Clinical Endocrinology & Metabolism 87 (3), 1309-1318, 2002 | 132 | 2002 |
The calcium-sensing receptor and related diseases L D'Souza-Li Arquivos Brasileiros de Endocrinologia & Metabologia 50, 628-639, 2006 | 120 | 2006 |
Hippocampal gene expression dysregulation of Klotho, nuclear factor kappa B and tumor necrosis factor in temporal lobe epilepsy patients MA Teocchi, AÉD Ferreira, EP da Luz de Oliveira, H Tedeschi, ... Journal of neuroinflammation 10, 1-7, 2013 | 104 | 2013 |
An acceptor splice site mutation in the calcium‐sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism L D’Souza‐Li, L Canaff, N Janicic, DEC Cole, GN Hendy Human Mutation 18 (5), 411-421, 2001 | 64 | 2001 |
Structural and morphological investigation of magnetic nanoparticles based on iron oxides for biomedical applications PS Haddad, TM Martins, L D'Souza-Li, LM Li, K Metze, RL Adam, ... Materials Science and Engineering: C 28 (4), 489-494, 2008 | 61 | 2008 |
Apoptosis through death receptors in temporal lobe epilepsy‐associated hippocampal sclerosis MA Teocchi, L D’Souza-Li Mediators of inflammation 2016 (1), 8290562, 2016 | 42 | 2016 |
OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences BA Barros, SG Moraes, FB Coeli, JG Assumpção, MP De Mello, ... Human reproduction 26 (12), 3450-3455, 2011 | 42 | 2011 |
Mutations in the vitamin D receptor gene in four patients with hereditary 1, 25-dihydroxyvitamin D-resistant rickets LC Macedo, FC Soardi, N Ananias, VMS Belangero, SZP Rigatto, ... Arquivos Brasileiros de Endocrinologia & Metabologia 52, 1244-1251, 2008 | 35 | 2008 |
Quantitative changes in human epithelial cancers and osteogenesis imperfecta disease detected using nonlinear multicontrast microscopy J Adur, VB Pelegati, AA de Thomaz, L D’Souza-Li, MC Assunção, ... Journal of Biomedical Optics 17 (8), 081407-081407, 2012 | 33 | 2012 |
The future of screening, brief intervention and referral to treatment in adolescent primary care: research directions and dissemination challenges L D'Souza-Li, SK Harris Current Opinion in Pediatrics 28 (4), 434-440, 2016 | 31 | 2016 |
Turner syndrome and metabolic derangements: another example of fetal programming AD Baldin, AA Siviero-Miachon, T Fabbri, SHV de Lemos-Marini, ... Early Human Development 88 (2), 99-102, 2012 | 23 | 2012 |
Polyclonality of parathyroid tumors in neonatal severe hyperparathyroidism KR Corrado, SC Andrade, J Bellizzi, L D'Souza‐Li, A Arnold Journal of Bone and Mineral Research 30 (10), 1797-1802, 2015 | 20 | 2015 |
46, XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene G Guaragna-Filho, CCTS Castro, RR De Carvalho, FB Coeli, LFC Ferraz, ... Arquivos Brasileiros de Endocrinologia & Metabologia 56, 578-585, 2012 | 20 | 2012 |
Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1 HC Fabbri, MP Mello, FC Soardi, AM Esquiaveto-Aun, DM Oliveira, ... Arquivos Brasileiros de Endocrinologia & Metabologia 54, 754-760, 2010 | 19 | 2010 |
Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10 µIU/mL have congenital hypothyroidism☆ FC Christensen-Adad, CT Mendes-dos-Santos, MMF Goto, ... Jornal de pediatria 93, 649-654, 2017 | 18 | 2017 |
Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency G Guerra-Junior, AM Spinola-Castro, AA Siviero-Miachon, RG Nogueira, ... Arquivos Brasileiros de Endocrinologia & Metabologia 52, 1221-1227, 2008 | 16 | 2008 |
Growth hormone effect on body composition in Turner syndrome AD Baldin, T Fabbri, AA Siviero-Miachon, AM Spinola-Castro, ... Endocrine 40, 486-491, 2011 | 15 | 2011 |
Comparison of cervical length in adult and adolescent nulliparae at mid-gestation C D'Agostini, M de Oliveira, L D’Souza-Li Journal of Pediatric and Adolescent Gynecology 26 (4), 209-211, 2013 | 13 | 2013 |