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Nascer e Crescer
Print version ISSN 0872-0754On-line version ISSN 2183-9417

 

XLIV Conferências de Genética Doutor Jacinto Magalhães

Table of contents
Nascer e Crescer vol.24  supl.1 Porto Feb. 2015

 Invited speakers
  
 ·  Mechanisms of primary ovarian insufficiency
Christin-Maitre, Sophie

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Azoospermia e oligozoospermia: características clínicas e causas genéticas
Louro, Nuno

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Toxic RNA and myotonic dystrophy: from the dissection of disease mechanisms to the development of novel therapeutic strategies
Gomes-Pereira, Mário

        · text in English     · English ( pdf )
  
 ·  Contributo da neuropatologia para o diagnóstico das doenças neuromusculares
Pires, Manuel Melo

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Doenças neuromusculares no adulto: abordagem clínica
Coelho, Teresa

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  New therapeutic approaches in adult neuromuscular disorders
Evangelista, Teresinha

        · text in English     · English ( pdf )
  
 ·  140 years since the identification of Gaucher disease: what is there left to learn?
Futerman, Tony

        · text in English     · English ( pdf )
  
 ·  Carrier screening: will it be possible to eliminate autosomal recessive disorders?
Ferreira, José Carlos

        · text in English     · English ( pdf )
  
 Oral communication
  
 ·  Diagnosis of neurometabolic disorders through next generation sequencing panels and bioinformatics tools: two years of experience
Gouveia, Sofia; Fernández-Marmiesse, Ana; Otero, Iria; Cocho, Juan; Castiñeiras, Daisy; Fraga, José; Couce, Mª Luz

        · text in English     · English ( pdf )
  
 Posters Presentations - Abstracts
  
 ·  Schwannnomatose múltipla não relacionada com NF2
Bagueixa, Mónica

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP
Tkachenko, Natália; Soares, Gabriela; Sá, Maria João; Soares, Ana Rita; Fortuna, Ana Maria

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Recessive TTN truncating mutation define a novel antenatal severe form of “CAP-myopathy” in absence of heart disease
Fernández-Marmiesse, Ana; Carrascosa-Romero, M. Carmen; Roca, Iria; Gouveia, Sofia; Pico, Mª Luz Couce

        · text in English     · English ( pdf )
  
 ·  Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies
Gouveia, Sofia; Fernández-Marmiesse, Ana; Otero, Iria; Cocho, Juan; Castiñeiras, Daisy; Fraga, José; Couce, Mª Luz

        · text in English     · English ( pdf )
  
 ·  Long-term follow-up of individuals with Williams-Beuren syndrome: facilitate transition from pediatric medicine to adult medicine (a case report)
Carmona, Carla; Saraiva, Teresa; Fortuna, Ana

        · text in English     · English ( pdf )
  
 ·  Aplicação dos marcadores IRT/PAP/IRT no rastreio neonatal da fibrose quística
Lopes, Lurdes; Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Vilarinho, Laura

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Translocação 11;22 num caso de infertilidade
Botelho, Pedro; Souto, Marta; Arantes, Regina; Martins, Márcia; Gomes, Zélia; Moutinho, Osvaldo; Leite, Rosário Pinto

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Infertility: importance of cytogenetic study
Souto, Marta; Botelho, Pedro; Arantes, Regina; Gomes, Zélia; Martins, Márcia; Moutinho, Osvaldo; Leite, Rosário Pinto

        · text in English     · English ( pdf )
  
 ·  Male infertility and chromosome aberrations: two case reports
Oliveira, Fernanda Paula; Teles, Natália Oliva; Freitas, Manuela Mota; Soares, Gabriela; Silva, Maria da Luz Fonseca e

        · text in English     · English ( pdf )
  
 ·  Autosome-autosome reciprocal translocation: implications in the fertility
Pires, Sílvia; Teles, Natália Oliva; Louro, Nuno; Silva, Maria da Luz Fonseca e

        · text in English     · English ( pdf )
  
 ·  Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families
Oliveira, Márcia E.; Maia, Nuno; Marques, Isabel; Santos, Rosário

        · text in English     · English ( pdf )
  
 ·  High phenotypic variability in two siblings with spinal muscular atrophy
Saraiva, Teresa; Oliveira, Jorge; Oliveira, Márcia E.; Soares, Ana; Santos, Rosário; Fortuna, Ana

        · text in English     · English ( pdf )
  
 ·  Pregnancy in a patient with distal arthrogryposis type 2B: clinical diagnosis, prenatal diagnosis and genetic counseling
Rodrigues, Márcia; Antunes, Diana; Carvalho, Inês; Freixo, João; Amorim, Marta; Lourenço, Teresa; Bernardo, Ana; Nunes, Luís

        · text in English     · English ( pdf )
  
 ·  Whole-exome sequencing analysis of adult patients with rare genetic diseases: what have we learned?
Oliveira, Jorge; Negrão, Luís; Pereira, Rute; Barros, Alberto; Sousa, Mário; Santos, Rosário

        · text in English     · English ( pdf )
  
 ·  Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset
Sá, Maria João; Chorão, Rui; Santos, Manuela; Fortuna, Ana Maria; Soares, Gabriela

        · text in English     · English ( pdf )
  
 ·  A portuguese family with CADASIL diagnosis with anticipation age of onset observed
Lopes-de-Almeida, Maria; Ramos, Lina; Cordeiro, Gustavo; Almeida, Rosário; Sá, Joaquim; Saraiva, Jorge M

        · text in English     · English ( pdf )
  
 ·  Lujan-Fryns and Opitz-Kaveggia syndromes: MED12 molecular screening
Paulino, Cathy; Marques, Isabel; Chaves, Raquel; Jorge, Paula; Santos, Rosário

        · text in English     · English ( pdf )
  
 ·  Distúrbios hereditários raros revelados pelo esfregaço de sangue periférico
Teixeira, Cláudia; Barbot, José; Freitas, Maria Inês

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Frontotemporal dementia and neuronal ceroid lipofuscinosis
Carvalho, Ana Luísa; Ramos, Lina; Venâncio, Maria Margarida; Santana, Isabel; Macário, Carmo; Almeida, Rosário; Saraiva, Jorge

        · text in English     · English ( pdf )
  
 ·  Forma adulta da doença de Pompe em Portugal
Caseiro, Carla; Laranjeira, Francisco; Silva, Elisabete; Ribeiro, Helena; Ferreira, Célia; Pinto, Fernanda; Ribeiro, Isaura; Sousa, Domingos; Rocha, Sónia; Pinto, Eugénia; Pacheco, Sara; Quelhas, Dulce; Lacerda, Lúcia

        · text in Portuguese     · Portuguese ( pdf )
  
 ·  Intronic long interspersed nuclear element (LINE-1) insertion in the DMD gene as a cause of Becker muscular dystrophy
Gonçalves, Ana; Coelho, Teresa; Oliveira, Jorge; Vieira, Emília; Taipa, Ricardo; Pires, Manuel Melo; Rocha, Elsa Bronze da; Santos, Rosário

        · text in English     · English ( pdf )
  
 ·  Doenças hereditárias do metabolismo: afinal não são assim tão raras no adulto...
Rocha, Sónia; Laranjeira, Francisco; Caseiro, Carla; Ribeiro, Isaura; Pinto, Eugénia; Ferreira, Célia; Ribeiro, Helena; Quelhas, Dulce; Lacerda, Lúcia

        · text in Portuguese     · Portuguese ( pdf )