Alexander Augusto de Lima Jorge
Alexander Augusto de Lima Jorge
Faculdade de Medicina da Universidade de São Paulo - FMUSP
Verified email at usp.br - Homepage
Title
Cited by
Cited by
Year
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
1782006
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, 2017
1662017
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
1592008
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
1412002
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
1322015
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
1082007
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 in Paediatrics 71 (4), 185-193, 2009
1032009
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
972010
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
862005
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
772013
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
742010
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, 2010
702010
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
622002
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty
PN Pugliese-Pires, JP Fortin, T Arthur, AC Latronico, BB Mendonca, ...
European journal of endocrinology 165 (2), 233, 2011
512011
The −202 A Allele of Insulin-Like Growth Factor Binding Protein-3 (IGFBP3) Promoter Polymorphism Is Associated with Higher IGFBP-3 Serum Levels and Better …
EF Costalonga, SR Antonini, G Guerra-Junior, BB Mendonca, IJP Arnhold, ...
The Journal of Clinical Endocrinology & Metabolism 94 (2), 588-595, 2009
512009
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
492017
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
KA Bear, BD Solomon, S Antonini, IJP Arnhold, MM França, EH Gerkes, ...
Journal of medical genetics 51 (6), 413-418, 2014
482014
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
C Tusset, SD Noel, EB Trarbach, LFG Silveira, AAL Jorge, VN Brito, ...
Arquivos Brasileiros de Endocrinologia & Metabologia 56 (9), 646-652, 2012
462012
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
462012
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor
CJ Lin, AAL Jorge, AC Latronico, S Marui, MCV Fragoso, RM Martin, ...
The Journal of Clinical Endocrinology & Metabolism 85 (3), 1211-1214, 2000
462000
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