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Alexsandra C. Malaquias
Alexsandra C. Malaquias
Médica Assistente da Unidade de Endocrinologia Pediátrica no Departamento de Pediatria da Irmandade
Verified email at fcmsantacasasp.edu.br
Title
Cited by
Cited by
Year
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
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
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
892012
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
792012
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
722019
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
672014
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
662014
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
522014
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
482019
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
472018
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
402018
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
362010
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
332014
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
322012
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
252019
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
232010
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
222008
Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity
AC Malaquias, AAL Jorge
Molecular and cellular endocrinology 519, 111040, 2021
192021
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
192008
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
182013
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