Alexsandra C Malaquias
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Explore the profile of Alexsandra C Malaquias including associated specialties, affiliations and a list of published articles.
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28
Citations
421
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Recent Articles
1.
Rezende R, Noronha R, Keselman A, Quedas E, Dantas N, Andrade N, et al.
Horm Res Paediatr
. 2022 Feb;
95(1):51-61.
PMID: 35176743
Introduction: Pubertal delay is described as one of the clinical features in Noonan syndrome (NS) and it may be one of the factors causing short adult height in those patients....
2.
Noronha R, Villares S, Torres N, Quedas E, Homma T, Albuquerque E, et al.
Am J Med Genet A
. 2020 Dec;
185(3):774-780.
PMID: 33382187
Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously...
3.
Bertola D, Castro M, Yamamoto G, Honjo R, Ceroni J, Buscarilli M, et al.
Am J Med Genet C Semin Med Genet
. 2020 Oct;
184(4):896-911.
PMID: 33128510
We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from a single Tertiary Center in Brazil, the largest study from Latin America. Noonan...
4.
Malaquias A, Jorge A
Mol Cell Endocrinol
. 2020 Oct;
519:111040.
PMID: 33011209
RASopathies are a heterogeneous group of syndromes caused by germline mutations in genes encoding components of the RAS/MAPK pathway. Postnatal short stature is a cardinal feature of the RASopathies. Although...
5.
Homma T, Freire B, Honjo R, Dauber A, Funari M, Lerario A, et al.
Horm Res Paediatr
. 2019 Nov;
92(2):115-123.
PMID: 31715605
Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by dysmorphic facial features, short stature, and expressive language delay. Objective: The aim of this study was to describe a cohort...
6.
Malaquias A, Noronha R, Souza T, Homma T, Funari M, Yamamoto G, et al.
Horm Res Paediatr
. 2019 May;
91(4):252-261.
PMID: 31132774
Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials And Methods: Forty-two patients (35...
7.
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
Freire B, Homma T, Funari M, Lerario A, Vasques G, Malaquias A, et al.
J Clin Endocrinol Metab
. 2019 Jan;
104(6):2023-2030.
PMID: 30602027
Context: Patients born small for gestational age (SGA) who present with persistent short stature could have an underlying genetic etiology that will account for prenatal and postnatal growth impairment. We...
8.
Cardoso-Demartini A, Malaquias A, Boguszewski M
Pediatr Endocrinol Rev
. 2018 Nov;
16(Suppl 1):105-112.
PMID: 30378788
Despite the difficulty to define born small for gestational age (SGA), being SGA has been associated with a higher risk of short stature, early-onset and rapid progression of puberty, neurocognitive...
9.
Freire B, Homma T, Funari M, Lerario A, Leal A, Velloso E, et al.
Eur J Med Genet
. 2017 Nov;
61(3):130-133.
PMID: 29133208
Background: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes...
10.
Homma T, Krepischi A, Furuya T, Honjo R, Malaquias A, Bertola D, et al.
Horm Res Paediatr
. 2017 Nov;
89(1):13-21.
PMID: 29130988
Background/aims: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short...