Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Catarina Limbert"'
Autor:
Iris Caramalho, Paula Matoso, Dário Ligeiro, Tiago Paixão, Daniel Sobral, Ana Laura Fitas, Catarina Limbert, Jocelyne Demengeot, Carlos Penha-Gonçalves
Publikováno v:
Frontiers in Immunology, Vol 14 (2024)
IntroductionEarly-onset Type 1 diabetes (EOT1D) is considered a disease subtype with distinctive immunological and clinical features. While both Human Leukocyte Antigen (HLA) and non-HLA variants contribute to age at T1D diagnosis, detailed analyses
Externí odkaz:
https://doaj.org/article/9c2c31772930482bbe946e8a148ecbe3
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 3125-3128 (2020)
Abstract The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
Externí odkaz:
https://doaj.org/article/07000d06c24e46b8a404a188430104aa
Autor:
Ana Luísa Leite, Elisa Galo, Ana Antunes, Brígida Robalo, Daniela Amaral, Filipa Espada, Sofia Castro, Sara Simões Dias, Catarina Limbert
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
IntroductionThere are several concerns associated with gonadotropin-releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP), such as obesity and changes in body mass index (BMI). We aimed to investigate whether any anthropome
Externí odkaz:
https://doaj.org/article/66e64370217c4c61907eab3f11b77226
Publikováno v:
Case Reports in Pediatrics, Vol 2016 (2016)
Pseudotumor cerebri (PTC) is defined by clinical criteria of increased intracranial pressure, elevated intracranial pressure with normal cerebrospinal fluid (CSF) composition, and exclusion of other causes such tumors, vascular abnormalities, or infe
Externí odkaz:
https://doaj.org/article/d4915f993f9e479189f0a5e8bcd5b136
Autor:
Lénia Ferrão, Maria Lurdes Lopes, Catarina Limbert, Bárbara Marques, Filomena Boieiro, Marisa Silva, Ramira Marques, João Lavinha, Amilcar Mota, João Gonçalves
Publikováno v:
Acta Médica Portuguesa, Vol 15, Iss 2 (2002)
The Turner syndrome (TS) has been described in association with different sex chromosome aberrations. Although most TS patients show no evidence of Y chromosome sequences, according to different authors some TS patients may have Y chromosome material
Externí odkaz:
https://doaj.org/article/c0a5c60c0c8045ed88dac63101c7e92f
Autor:
Carolina Castro, Filipa Espada, Ana Luísa Leite, Ana Antunes, Brígida Robalo, Daniela Amaral, Elisa Galo, Sofia Castro, Sofia Ferreira, Catarina Limbert
Publikováno v:
Clinical Endocrinology. 98:670-677
© 2023 John Wiley & Sons Ltd.
Objective: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treat
Objective: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treat
Autor:
Francisco Branco Caetano, Ana Lança, Cláudia Rodrigues, Sofia Bota, Ana Garcia, Catarina Diamantino, Ana Fitas, Júlia Galhardo, Rosa Pina, Lurdes Lopes, Catarina Limbert
Publikováno v:
Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo.
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 12, Pp 3125-3128 (2020)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Clinical Case Reports, Vol 8, Iss 12, Pp 3125-3128 (2020)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
The authors present a new association of tw
The authors present a new association of tw
Autor:
Catarina Limbert, Stefanie Lanzinger, Carine deBeaufort, Violeta Iotova, Julie Pelicand, Mariana Prieto, Riccardo Schiaffini, Zdeněk Šumnik, Danièle Pacaud
Publikováno v:
Diabetes Research and Clinical Practice. 192:110110
Aims: To evaluate access to screening tools for monogenic diabetes in paediatric diabetes centres across the world and its impact on diagnosis and clinical outcomes of children and youth with genetic forms of diabetes. Methods: 79 centres from the SW