| Diagnosis and management of Silver–Russell syndrome: first international consensus statement EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ... Nature Reviews Endocrinology 13 (2), 105-124, 2017 | 419 | 2017 |
| Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ... Journal of medical genetics 52 (6), 413-421, 2015 | 236 | 2015 |
| Diagnosis, genetics, and therapy of short stature in children: a growth hormone research society international perspective PF Collett-Solberg, G Ambler, PF Backeljauw, M Bidlingmaier, BMK Biller, ... Hormone research in paediatrics 92 (1), 1-14, 2019 | 215 | 2019 |
| Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency AAL Jorge, FG Marchisotti, LR Montenegro, LR Carvalho, BB Mendonca, ... The Journal of Clinical Endocrinology & Metabolism 91 (3), 1076-1080, 2006 | 195 | 2006 |
| Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors MQ Almeida, MCBV Fragoso, CFP Lotfi, MG Santos, MY Nishi, ... The Journal of Clinical Endocrinology & Metabolism 93 (9), 3524-3531, 2008 | 190 | 2008 |
| Pituitary Magnetic Resonance Imaging and Function in Patients with Growth Hormone Deficiency with and without Mutations in GHRH-R, GH-1, or PROP-1 Genes MGF Osorio, S Marui, AAL Jorge, AC Latronico, LSS Lo, CC Leite, ... The Journal of Clinical Endocrinology & Metabolism 87 (11), 5076-5084, 2002 | 149 | 2002 |
| SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability AAL Jorge, SC Souza, MY Nishi, AE Billerbeck, DCC Libório, CA Kim, ... Clinical endocrinology 66 (1), 130-135, 2007 | 131 | 2007 |
| Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature GA Vasques, N Amano, AJ Docko, MFA Funari, EPS Quedas, MY Nishi, ... The Journal of Clinical Endocrinology & Metabolism 98 (10), E1636-E1644, 2013 | 124 | 2013 |
| Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway AAL Jorge, AC Malaquias, IJP Arnhold, BB Mendonca Hormone research 71 (4), 185-193, 2009 | 123 | 2009 |
| Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly MM França, AAL Jorge, LRS Carvalho, EF Costalonga, GA Vasques, ... The Journal of Clinical Endocrinology & Metabolism 95 (11), E384-E391, 2010 | 118 | 2010 |
| Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations A Gkourogianni, M Andrew, L Tyzinski, M Crocker, J Douglas, N Dunbar, ... The Journal of Clinical Endocrinology & Metabolism 102 (2), 460-469, 2017 | 115 | 2017 |
| PTPN11 (Protein Tyrosine Phosphatase, Nonreceptor Type 11) Mutations and Response to Growth Hormone Therapy in Children with Noonan Syndrome LV Ferreira, SAL Souza, IJP Arnhold, BB Mendonca, AAL Jorge The Journal of Clinical Endocrinology & Metabolism 90 (9), 5156-5160, 2005 | 104 | 2005 |
| Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults MQ Almeida, IC Soares, TC Ribeiro, MCBV Fragoso, LV Marins, ... The Journal of Clinical Endocrinology & Metabolism 95 (3), 1458-1462, 2010 | 88 | 2010 |
| Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies CRDC Quaio, JF Carvalho, CA da Silva, C Bueno, AS Brasil, AC Pereira, ... American Journal of Medical Genetics Part A 158 (5), 1077-1082, 2012 | 83 | 2012 |
| DLK1 Is a Novel Link Between Reproduction and Metabolism LG Gomes, M Cunha-Silva, RP Crespo, CO Ramos, LR Montenegro, ... The Journal of Clinical Endocrinology & Metabolism 104 (6), 2112-2120, 2019 | 79 | 2019 |
| Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway AC Malaquias, AS Brasil, AC Pereira, IJP Arnhold, BB Mendonca, ... American Journal of Medical Genetics Part A 158 (11), 2700-2706, 2012 | 77 | 2012 |
| BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells D Lessel, C Gehbauer, NC Bramswig, C Schluth-Bolard, ... Brain 141 (8), 2299-2311, 2018 | 75 | 2018 |
| New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism LGL Amato, LR Montenegro, AM Lerario, AAL Jorge, G Guerra Junior, ... European journal of endocrinology 181 (2), 103-119, 2019 | 74 | 2019 |
| An unusual phenotype of Frasier syndrome due to IVS9+ 4C> T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis KFS Melo, RM Martin, EMF Costa, FM Carvalho, AA Jorge, IJP Arnhold, ... The Journal of Clinical Endocrinology & Metabolism 87 (6), 2500-2505, 2002 | 73 | 2002 |
| A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism MG Teles, EB Trarbach, SD Noel, G Guerra-Junior, A Jorge, D Beneduzzi, ... European journal of endocrinology 163 (1), 29-34, 2010 | 70 | 2010 |
Berenice Bilharinho de MendonçaFaculdade de Medicina da Universidade de São Paulo在 usp.br 的电子邮件经过验证
