All Stories

  1. Brazilian growth charts for 22q11.2 deletion syndrome from birth to 17 years

    Article • Jornal de Pediatria, July 2026, Elsevier

    Débora Gusmão Melo

  2. Family quality of life in the context of Rett syndrome: insights from Brazilian families

    Article • Journal of Community Genetics, April 2026, Springer Science + Business Media

    Débora Gusmão Melo

  3. Tireoidite granulomatosa subaguda simulando carcinoma de tireoide: desafios diagnósticos

    Article • Revista de Medicina, November 2025, Universidade de Sao Paulo Sistema Integrado de Bibliotecas - SIBiUSP

    Débora Gusmão Melo

  4. Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil

    Article • International Journal of Neonatal Screening, June 2025, MDPI AG

    Dr Simone Martins de Castro, Débora Gusmão Melo

  5. Mindfulness-Based Intervention Improves Quality of Life and Reduces Burden in Family Caregivers of People with Intellectual Disabilities: A Pragmatic Randomized Trial with an Active Control

    Article • June 2025, Qeios Ltd

    Débora Gusmão Melo

  6. Caring for a Child with Cornelia de Lange Syndrome in Brazil: What Families in Brazil Taught Us

    Article • American Journal of Medical Genetics Part A, May 2025, Wiley

    Aline Apis, Débora Gusmão Melo

  7. Living with Neurofibromatosis type 1 in Brazil: Stories of Uncertainty, Strength, and Adaptation

    Article • Journal of Genetic Counseling, April 2025, Wiley

    Roberta Moraes, Débora Gusmão Melo

  8. Patient-centered clinical outcomes - EQ-5D-3L and net promoter score in lysosomal diseases: Data from a participating center in the National Rare Diseases Network (RARAS)

    Article • Molecular Genetics and Metabolism, February 2025, Elsevier

    Débora Gusmão Melo

  9. How do clinical geneticists perceive the quality of genetic counseling in Brazil?

    Article • Journal of Community Genetics, January 2025, Springer Science + Business Media

    Maria Vitoria Gomes da Silva, Débora Gusmão Melo

  10. Teaching and training of human resources for genetics and genomics in Brazil

    Article • Journal of Community Genetics, August 2024, Springer Science + Business Media

    Débora Gusmão Melo

  11. FACT: a tool to measure college students' knowledge about the effects of alcohol on pregnancy.

    Article • Frontiers in Public Health, May 2024, Frontiers

    Guilherme Leite, Débora Gusmão Melo

  12. Suicidal behavior among individuals with trisomy 21: an integrative review

    Article • International Review of Psychiatry, March 2024, Taylor & Francis

    Débora Gusmão Melo

  13. Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study

    Article • Anais Brasileiros de Dermatologia, March 2024, Elsevier

    Débora Gusmão Melo

  14. What do we know about the SARS-CoV-2 infection in people with Down syndrome?

    Article • Sao Paulo Medical Journal, January 2024, FapUNIFESP (SciELO)

    Débora Gusmão Melo, Maria Vitoria Gomes da Silva

  15. Prevalence and antimicrobial resistance profile of pathogens isolated from patients with urine tract infections admitted to a university hospital in a medium-sized Brazilian city

    Article • January 2024, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  16. Exploring spiritual/religious coping strategies among mothers of children with severe or profound intellectual disability during genetic counseling in Brazil

    Article • Journal of Genetic Counseling, September 2023, Wiley

    Débora Gusmão Melo

  17. Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study

    Article • Journal of Community Genetics, August 2023, Springer Science + Business Media

    Débora Gusmão Melo

  18. DEFICIÊNCIA INTELECTUAL GRAVE OU PROFUNDA: INVESTIGAÇÃO QUALITATIVA DE ESTRATÉGIAS MATERNAS DE ENFRENTAMENTO

    Article • Psicologia em Estudo, July 2023, Universidade Estadual de Maringa

    Débora Gusmão Melo

  19. COVID-19 in individuals with sickle cell disease: an integrative review of what we know so far

    Article • Frontiers in Medicine, May 2023, Frontiers

    Laura Resende Guimarães Pereira , Débora Gusmão Melo

  20. Cross-cultural adaptation and psychometric properties of the Brazilian Portuguese version of the Impact of Neurofibromatosis type 1 on Quality of Life (INF1-QoL) questionnaire

    Article • British Journal of Dermatology, February 2023, Oxford University Press (OUP)

    Débora Gusmão Melo

  21. BELIEFS AND ATTITUDES OF CAREGIVERS REGARDING INFANT FEEDING AND WEIGHT DEVELOPMENT IN THE COVID-19 PANDEMIC

    Article • Cogitare Enfermagem, January 2023, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  22. CREENCIAS Y ACTITUDES DE LAS CUIDADORAS SOBRE LA ALIMENTACIÓN Y EL DESARROLLO PONDERAL INFANTIL DURANTE LA PANDEMIA DE COVID-19.

    Article • Cogitare Enfermagem, January 2023, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  23. CRENÇAS E ATITUDES DAS CUIDADORAS QUANTO À ALIMENTAÇÃO E EVOLUÇÃO PONDERAL INFANTIL NA PANDEMIA DE COVID-19

    Article • Cogitare Enfermagem, January 2023, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  24. How does having a child with Rubinstein-Taybi syndrome in Brazil modify the quality of family life?

    Article • American Journal of Medical Genetics Part A, August 2022, Wiley

    Amanda Rodrigues Vale, Débora Gusmão Melo

  25. Quality of life of Brazilian families who have children with Williams syndrome

    Article • Journal of Intellectual Disabilities, May 2022, SAGE Publications

    Débora Gusmão Melo

  26. Family quality of life among families who have children with mild intellectual disability associated with mild autism spectrum disorder

    Article • Arquivos de Neuro-Psiquiatria, April 2022, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  27. Currículo médico baseado em competência e especialização voltada à atuação na atenção primária à saúde

    Article • Revista Brasileira de Educação Médica, January 2022, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  28. Genética em Medicina e Enfermagem: percepções de profissionais de saúde envolvidos com o processo ensino-aprendizagem

    Article • Revista Brasileira de Educação Médica, January 2022, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  29. Anormalidades cromossômicas identificadas em um serviço de genética médica do interior do Estado de São Paulo, Brasil

    Article • Saúde e Desenvolvimento Humano, November 2021, Centro Universitario La Salle - UNILASALLE

    Débora Gusmão Melo

  30. Why are Birth Defects Surveillance Programs Important?

    Article • Frontiers in Public Health, November 2021, Frontiers

    Débora Gusmão Melo

  31. Do surgimento à extinção: a trajetória de um serviço ambulatorial de genética médica no Brasil

    Article • Revista de Atenção à Saúde, June 2021, USCS Universidade Municipal de Sao Caetano do Sul

    Débora Gusmão Melo

  32. Alcohol Consumption During Pregnancy in Brazil: Elements of an Interpretive Approach

    Article • Qualitative Health Research, June 2021, SAGE Publications

    Débora Gusmão Melo

  33. Neonatal thyrotropin levels and auditory neural maturation in full-term newborns

    Article • PLOS One, June 2021, PLOS

    Débora Gusmão Melo

  34. Neonatal screening program for five conditions in Honduras

    Article • Journal of Community Genetics, January 2021, Springer Science + Business Media

    Débora Gusmão Melo

  35. Identificação de doenças genéticas na Atenção Primária à Saúde

    Article • Revista Brasileira de Medicina de Família e Comunidade, August 2020, Sociedade Brasileira de Medicina de Familia e Comunidade (SBMFC)

    Débora Gusmão Melo

  36. Effects of intrauterine latent iron deficiency on auditory neural maturation in full-term newborns

    Article • Jornal de Pediatria, March 2020, Elsevier

    Débora Gusmão Melo

  37. Effects of intrauterine latent iron deficiency on auditory neural maturation in full‐term newborns

    Article • Jornal de Pediatria (Versão em Português), March 2020, Elsevier

    Débora Gusmão Melo

  38. Fragilidade na formação dos profissionais de saúde quanto à Língua Brasileira de Sinais: reflexo na atenção à saúde dos surdos

    Article • Audiology - Communication Research, January 2020, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  39. Why do women drink (or not) during pregnancy? A study in Brazil

    Article • PLOS One, October 2019, PLOS

    Julia Lustosa Martinelli, Débora Gusmão Melo

  40. Qualidade de vida de famílias de filhos com deficiência intelectual moderada

    Article • Jornal Brasileiro de Psiquiatria, June 2019, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  41. A qualitative study about quality of life in Brazilian families with children who have severe or profound intellectual disability

    Article • Journal of Applied Research in Intellectual Disabilities, October 2018, Wiley

    Débora Gusmão Melo

  42. Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento

    Article • Saúde e Desenvolvimento Humano, October 2018, Centro Universitario La Salle - UNILASALLE

    Débora Gusmão Melo

  43. Follicular thyroid carcinoma in a male adolescent with Williams–Beuren syndrome

    Article • Clinical Dysmorphology, January 2017, Wolters Kluwer Health

    Débora Gusmão Melo

  44. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

    Article • European Journal of Medical Research, August 2016, Springer Science + Business Media

    Débora Gusmão Melo

  45. Possíveis novos determinantes da qualidade de vida de pacientes com câncer de tireoide tratado: um estudo qualitativo

    Article • Ciência & Saúde Coletiva, August 2016, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  46. Quality of Life in Adults with Neurofibromatosis 1 in Brazil

    Article • Journal of Genetic Counseling, March 2016, Wiley

    Débora Gusmão Melo

  47. Políticas públicas de saúde para deficientes intelectuais no Brasil: uma revisão integrativa

    Article • Ciência & Saúde Coletiva, January 2016, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  48. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education

    Article • Journal of Community Genetics, April 2015, Springer Science + Business Media

    Débora Gusmão Melo

  49. Triagem neonatal de hemoglobinopatias no município de São Carlos, São Paulo, Brasil: análise de uma série de casos

    Article • Revista Paulista de Pediatria, March 2015, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  50. Os "daltônicos" e suas dificuldades: condição negligenciada no Brasil?

    Article • Physis Revista de Saúde Coletiva, December 2014, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  51. Effects of 3,5,3′-Triiodothyroacetic Acid, Nanoencapsulated or Not, on Intact and Atrophic Skin in Rats

    Article • Journal of Nanotechnology in Engineering and Medicine, August 2014, ASME International

    Débora Gusmão Melo

  52. Maternal and perinatal aspects of birth defects: a case-control study

    Article • Revista Paulista de Pediatria, March 2014, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  53. Sarcoidosis simulating metastasis in patient with Merkel cell carcinoma

    Article • Jornal Brasileiro de Patologia e Medicina Laboratorial, January 2014, GN1 Genesis Network

    Débora Gusmão Melo

  54. Afeto, proximidade, frequência e uma clínica hesitante: bases do "vínculo" entre pacientes com síndrome de Down e a Atenção Primária à Saúde?

    Article • Ciência & Saúde Coletiva, July 2013, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  55. Endovascular treatment of external iliac vein stenosis caused by graft compression after kidney transplantation

    Article • Jornal Vascular Brasileiro, June 2013, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  56. A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

    Article • European Journal of Medical Genetics, November 2012, Elsevier

    Débora Gusmão Melo

  57. The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil

    Article • Genetic Testing and Molecular Biomarkers, July 2012, Mary Ann Liebert Inc

    Jorge Sequeiros, Débora Gusmão Melo

  58. Confiabilidade da Declaração de Nascido Vivo como fonte de informação sobre os defeitos congênitos no Município de São Carlos, São Paulo, Brasil

    Article • Ciência & Saúde Coletiva, April 2012, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  59. Fluorescence spectroscopy as a tool to detect and evaluate glucocorticoid-induced skin atrophy

    Article • Lasers in Medical Science, January 2012, Springer Science + Business Media

    Débora Gusmão Melo

  60. Amostragem em pesquisas qualitativas: proposta de procedimentos para constatar saturação teórica

    Article • Cadernos de Saúde Pública, February 2011, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  61. Critical analysis of the neonatal screening program for hemoglobinopathies

    Article • Revista Brasileira de Hematologia e Hemoterapia, January 2011, Revista Brasileira de Hematologia e Hemoterapia (RBHH)

    Débora Gusmão Melo

  62. Ambulatório de genética médica na Apae: experiência no ensino médico de graduação

    Article • Revista Brasileira de Educação Médica, September 2008, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  63. Monozygotic twins discordant for Goldenhar syndrome

    Article • Jornal de Pediatria, March 2006, Jornal de Pediatria

    Débora Gusmão Melo

  64. Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas

    Article • Jornal de Pediatria, February 2006, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  65. Efeitos do consumo de bebida alcoólica sobre o feto

    Article • Revista Brasileira Ginecologia e Obstetrícia, July 2005, FapUNIFESP (SciELO)

    Débora Gusmão Melo

  66. Neuroimaging and echocardiographic findings in Sotos syndrome

    Article • American Journal of Medical Genetics, February 2000, Wiley

    Débora Gusmão Melo

  67. Neuroimaging and echocardiographic findings in Sotos syndrome

    Article • American Journal of Medical Genetics, February 2000, Wiley

    Débora Gusmão Melo

  68. Ablepharon-Macrostomia syndrome: First report of familial occurrence

    Article • American Journal of Medical Genetics, January 2000, Wiley

    Débora Gusmão Melo

  69. 10.1016/j.abdp.2024.03.004

    Article • January 2000, Unmaintained records

    Débora Gusmão Melo