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» Authors » Thais K Homma

Thais K Homma

Explore the profile of Thais K Homma including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 100
Followers 0
Related Specialties
Endocrinology
Pediatrics
Genetics
Top 10 Co-Authors
Alexander A L Jorge
Bruna L Freire
Mariana F A Funari
Alexsandra C Malaquias
Antonio M Lerario
Gabriela A Vasques
Debora R Bertola
Chong A Kim
Rachel S Honjo
Ivo J P Arnhold
Published In
Horm Res Paediatr
Clin Genet
Eur J Med Genet
J Biol Chem
J Clin Endocrinol Metab
Affiliations
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Recent Articles
1.
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder
Magrino J, Munford V, Martins D, Homma T, Page B, Gaubitz C, et al.
J Biol Chem . 2023 Mar; 299(5):104656. PMID: 36990216
Proliferating cell nuclear antigen (PCNA) is a sliding clamp protein that coordinates DNA replication with various DNA maintenance events that are critical for human health. Recently, a hypomorphic homozygous serine...
2.
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
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...
3.
Evaluation of SHOX defects in the era of next-generation sequencing
Funari M, de Barros J, Santana L, Lerario A, Freire B, Homma T, et al.
Clin Genet . 2019 Jun; 96(3):261-265. PMID: 31219618
Short stature homeobox (SHOX) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of SHOX mutations continues to be performed using standard methods, including...
4.
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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...
5.
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...
6.
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
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...
7.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
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...