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 | 253 | 2015 |
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 | 125 | 2009 |
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, 2012 | 89 | 2012 |
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, 2012 | 79 | 2012 |
Multigene sequencing analysis of children born small for gestational age with isolated short stature BL Freire, TK Homma, MFA Funari, AM Lerario, GA Vasques, ... The Journal of Clinical Endocrinology & Metabolism 104 (6), 2023-2030, 2019 | 72 | 2019 |
Further evidence of the importance of RIT1 in Noonan syndrome DR Bertola, GL Yamamoto, TF Almeida, M Buscarilli, AAL Jorge, ... American journal of medical genetics Part A 164 (11), 2952-2957, 2014 | 67 | 2014 |
The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis AC Malaquias, RC Scalco, EGP Fontenele, EF Costalonga, AD Baldin, ... Hormone research in paediatrics 80 (6), 449-456, 2014 | 66 | 2014 |
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways APM Canton, SS Costa, TC Rodrigues, DR Bertola, AC Malaquias, ... European journal of endocrinology 171 (2), 253-262, 2014 | 52 | 2014 |
Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing TK Homma, BL Freire, RSH Kawahira, A Dauber, MF de Assis Funari, ... The Journal of Pediatrics 215, 192-198, 2019 | 48 | 2019 |
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients BL Freire, TK Homma, MFA Funari, AM Lerario, AM Leal, EDRP Velloso, ... European journal of medical genetics 61 (3), 130-133, 2018 | 47 | 2018 |
Recurrent copy number variants associated with syndromic short stature of unknown cause TK Homma, ACV Krepischi, TK Furuya, RS Honjo, AC Malaquias, ... Hormone research in paediatrics 89 (1), 13-21, 2018 | 40 | 2018 |
PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes AS Brasil, AC Pereira, LT Wanderley, CA Kim, AC Malaquias, AAL Jorge, ... Genetic testing and molecular biomarkers 14 (3), 425-432, 2010 | 36 | 2010 |
Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism AF Braz, EF Costalonga, EB Trarbach, RC Scalco, AC Malaquias, ... The Journal of Clinical Endocrinology & Metabolism 99 (9), E1808-E1813, 2014 | 33 | 2014 |
The interactive effect of GHR-exon 3 and− 202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome AF Braz, EF Costalonga, LR Montenegro, EB Trarbach, SRR Antonini, ... The Journal of Clinical Endocrinology & Metabolism 97 (4), E671-E677, 2012 | 32 | 2012 |
Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan syndrome AC Malaquias, RM Noronha, TTO Souza, TK Homma, MFA Funari, ... Hormone research in paediatrics 91 (4), 252-261, 2019 | 25 | 2019 |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? AS Brasil, AC Malaquias, LT Wanderley, C Kim, JE Krieger, AAL Jorge, ... Arquivos Brasileiros de Endocrinologia & Metabologia 54, 717-722, 2010 | 23 | 2010 |
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients LV Ferreira, SCAL Souza, LR Montenegro, AC Malaquias, IJP Arnhold, ... Clinical endocrinology 69 (3), 426-431, 2008 | 22 | 2008 |
Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity AC Malaquias, AAL Jorge Molecular and cellular endocrinology 519, 111040, 2021 | 19 | 2021 |
Síndrome de Noonan: do fenótipo à terapêutica com hormônio de crescimento AC Malaquias, LV Ferreira, SC Souza, IJP Arnhold, BB Mendonça, ... Arquivos Brasileiros de Endocrinologia & Metabologia 52 (5), 800-808, 2008 | 19 | 2008 |
Tegumentary manifestations of Noonan and Noonan-related syndromes CRD Quaio, TF Almeida, AS Brasil, AC Pereira, AAL Jorge, AC Malaquias, ... Clinics 68, 1079-1083, 2013 | 18 | 2013 |