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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
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
4512017
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
2532015
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
2472019
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
1962008
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
1902006
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
1532002
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
1362007
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
1312013
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
1272017
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
1252009
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
1212010
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
1062005
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
992018
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
902019
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
892012
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
882010
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
812002
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
802019
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
792012
Growth hormone therapy in children; research and practice–a review
PF Collett-Solberg, AAL Jorge, MCS Boguszewski, BS Miller, ...
Growth Hormone & IGF Research 44, 20-32, 2019
752019
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