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Autor: João, AL, Antunes, D, Cordeiro, AI, Paiva Lopes, MJ

Publikováno v: Portuguese Journal of Dermatology and Venereology. 80

Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a0f96cc96867100fb45761bb35c3ee1
https://doi.org/10.24875/pjdv.22000002

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Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

Autor: Joana Soares, Marta Amorim, Catarina Limbert, Rita Valsassina, Filipa Briosa

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ccfcfb50074149214eefa0359706f11
https://doi.org/10.1002/ccr3.3370

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Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE

Autor: Joana Tavares, Diana Antunes, Mamede de Carvalho, Ana Catarina Pronto-Laborinho, Marta Gromicho, Rita Raposeiro, Ana Coutinho

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd8a5beff40e9c4282e3085885ea121
https://doi.org/10.1007/s00415-020-10042-y

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English

Autor: Susana Abreu, Diana de Oliveira Antunes, Fátima Abreu

Publikováno v: Portuguese Journal of Pediatrics; Vol. 52 No. 3 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 3 (2021)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 52, Iss 3 (2021)

Interstitial lung disease is a very heterogeneous group of diseases. Dysfunction of surfactant proteins is included in this group and ABCA3 gene mutations are a well-established genetic cause. There is a large spectrum of clinical presentation concer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5902cc960bee5957e3b266a426269864
https://pjp.spp.pt/article/view/20929

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A novel variant of DeSanto-Shinawi Syndrome with joint manifestations

Autor: Joana Branco, Marta Amorim, Marta Conde

Publikováno v: European Journal of Medical Genetics. 65:104534

The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features, variable degrees of developmental delay and intellectual disability that were recently delineated as DeSanto-Shinawi syndrome (OMIM 616708).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad531ddc63f3bb61887b260c461e089
https://doi.org/10.1016/j.ejmg.2022.104534

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Caracterização de Crianças com Distúrbio do Espectro da Neuropatia Auditiva e sua Reabilitação

Autor: Mariano, Marta, Correia, Isabel, Nunes, Sofia, Cunha, Inês, Sousa, Herédio, Kay, Teresa, Barros, Ezequiel

Objectivos: Identificar e caracterizar os casos pediátricos de Distúrbio do Espectro da Neuropatia Auditiva (DENA) e analisar a sua reabilitação. Desenho do Estudo: Estudo observacional descritivo. Material e Métodos: Análise dos processos clí

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3765e9d94ffc10a1254c37a419e897b8
https://hdl.handle.net/10400.17/4337

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Genetic Deafness Profile: Hearing Rehabilitation and Predictive Prognostic Factors

Autor: Pereira, Susana, Nunes, Sofia, Mariano, Marta, Sousa, Herédio, Lavra, Tânia, Kay, Teresa, Barros, Ezequiel

Publikováno v: Portuguese Journal of Otorhinolaryngology and Head and Neck Surgery; Vol. 59 No. 2 (2021): June; 139-146
Revista Portuguesa de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço; Vol. 59 Núm. 2 (2021): Junho; 139-146
Revista Portuguesa de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço; v. 59 n. 2 (2021): Junho; 139-146

Objetivos: Caracterizar a população com surdez de etiologia genética, a relação genótipo-fenótipo e fatores prognósticos na decisão de tratamento de reabilitação. Material e Métodos: Análise retrospetiva da população pediátrica refere

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edaf76e55d1b3b6a5e40895c56d0279b
https://hdl.handle.net/10400.17/4338

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Raquitismo hipofosfatêmico ligado ao X: uma nova mutação

Autor: João Parente Freixo, Telma Francisco, Helena Sousa, Margarida Abranches, Lia Mano, Sara Rocha, Patrícia Maio, Rute Baeta Baptista

Publikováno v: Brazilian Journal of Nephrology, Issue: ahead, Published: 04 SEP 2020
Brazilian Journal of Nephrology, Volume: 43, Issue: 2, Pages: 279-282, Published: 04 SEP 2020
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Jornal Brasileiro de Nefrologia
Brazilian Journal of Nephrology, Vol 43, Iss 2, Pp 279-282 (2020)
Brazilian Journal of Nephrology v.43 n.2 2021
Sociedade Brasileira de Nefrologia (SBN)
instacron:SBN

Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinic

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020005031201&lng=en&tlng=en

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Primary hyperoxaluria type 1 – two case reports

Autor: Marta Amorim, Dinorah Cardoso, Marisa Braga da Cruz, Susana Nobre, Inês Ganhão, Catarina Borges, Margarida Abranches, Telma Francisco

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Primary hyperoxaluria type 1 is a rare autosomal recessive inherited disease, caused by mutations in AGXT gene, with an estimated incidence of 1:100.000 live births per year in Europe. Over 50% present with end stage renal disease at diagnosis. Case

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https://doi.org/10.32932/pjnh.2020.04.064

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Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Autor: Salomé de Almeida, Patrícia Mendes, José M. Inácio, Rui Anjos, José António Belo, Duarte Martins, José Maio, Fernando Cristo

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e471fc5be288e33884a87e815a4001a
http://link.springer.com/article/10.1186/s12881-017-0444-1

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