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Ana Medeira

Research Profile

Geographic Areas

Portugal

Procedures

DNA Mutational Analysis

Physiology

Living Beings

Disorders

Phenomena

Polymorphism, Single-Stranded Conformational

Chemicals & Drugs

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Publications

TOP 3
Patrícia Dias; Ana Medeira; Isabel Cordeiro
A new intellectual disability syndrome with digital anomalies.
Juliette Dupont; Sian Ellard; Ana Medeira; Carla Pereira; Rui Duarte; Lurdes Sampaio
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
Oana Moldovan; Raquel Carvalho; Zulmira Jorge; Ana Medeira
A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.

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All Publications

2012: Patrícia Dias; Ana Medeira; Isabel Cordeiro
A new intellectual disability syndrome with digital anomalies.
Clinical dysmorphology 2012;21(4):222-5.
2012: Juliette Dupont; Sian Ellard; Ana Medeira; Carla Pereira; Rui Duarte; Lurdes Sampaio
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
Journal of pediatric endocrinology & metabolism : JPEM 2012;25(3-4):367-70.
2011: Oana Moldovan; Raquel Carvalho; Zulmira Jorge; Ana Medeira
A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.
American journal of medical genetics. Part A 2011;155A(9):2329-30.
2011: Marcos Morey; José Nieto; Manuel Pombo; Lourdes Rey-Cordo; Itxaso Rica; Berta Rodríguez; Leandro Soriano-Guillén; Jaime Vila-Cots; Ramón Vilalta; Fernando Aleixandre; Gema Ariceta; Jesús Barreiro; Ignacio Bernabeu; Paloma Cabanas; Lidia Castro-Feijóo; José M Díaz-Grande; Angeles Fernandez; Ana Fontalba; Sixto García-Miñaur; Carmen García-Pardos; José M García-Sagredo; Marta Gil; Saioa Juaristi; Antonio Martínez-Peinado; Loreto Martorell; Ana Medeira; José M Millán; Oana Moldovan; Lourdes Loidi
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
BMC medical genetics 2011;12():116.
2009: Vânia Gonçalves; Patrícia Theisen; Ofélia Antunes; Ana Medeira; José Silva Ramos; peter Jordan; Glória Isidro
A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.
Mutation research 2009;662(1-2):33-6.
2009: Monica Santos; Teresa Temudo; Teresa Kay; Inês Carrilho; Ana Medeira; Helena Cabral; Roseli Gomes; Maria Teresa Lourenço; Margarida Venâncio; Eulália Calado; Ana Moreira; Guiomar Oliveira; Patrícia Maciel
Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Journal of child neurology 2009;24(1):49-55.
2008: Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kveta Bláhová; Detlef Bockenhauer; DJ Fowler; Richard M Gregson; Iwona Maruniak-Chudek; Ana Medeira; Erica Laima Mendonça; Mikhail Kagan; Jens Koenig; Hermann Krastel; Hester Y Kroes; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietliński; Dorothy Thompson; Rene G VanDeVoorde; Dienke Wittebol-Post; Geoffrey Woodruff; Aleksandra Zurowska; Raoul Hennekam; Martin Zenker; Isabelle Russell-Eggitt
Ophthalmological aspects of Pierson syndrome.
American journal of ophthalmology 2008;146(4):602-611.
2006: Ana Berta Sousa; Ana Medeira; Binita M Kamath; Nancy B Spinner; Isabel Cordeiro
Familial stenosis of the pulmonary artery branches with a JAG1 mutation.
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2006;25(4):447-52.
2005: Maria Luís Cardoso; A Balreira; Esmeralda Martins; L Nunes; A Cabral; M Marques; M Reis Lima; J S Marques; Ana Medeira; Isabel Cordeiro; S Pedro; M C Mota; Carlo Dionisi Vici; Filippo M Santorelli; Cornelis Jakobs; P T Clayton; Laura Vilarinho
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Molecular genetics and metabolism 2005;85(3):228-35.
2004: Glória Isidro; Francisco Laranjeira; Ana Pires; Júlio Leite; Fernando Regateiro; F Castro e Sousa; José Soares; Clara Castro; João Giria; Maria J Brito; Ana Medeira; Ricardo Teixeira; Henrique Morna; Isabel Gaspar; Carla Marinho; Rosa Jorge; António Brehm; J Silva Ramos; Maria G Boavida
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
Human mutation 2004;24(4):353-4.
2004: Alfredo Orrico; Lucia Galli; Maria Luigia Cavaliere; Livia Garavelli; Jean-Pierre Fryns; Ellen Crushell; Maria Michela Rinaldi; Ana Medeira; Vincenzo Sorrentino
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
European journal of human genetics : EJHG 2004;12(1):16-23.
2001: Jorge Saraiva; Maximina R Pinto; Carolino Monteiro; M Reis Lima; Ana Medeira; P Rendeiro
Portugal: the practice of medical genetics in Portugal. Portuguese Society of Human Genetics.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):220-1.
2001: H Vassal; Ana Medeira; Isabel Cordeiro; HG Santos; Sérgio Castedo; C Saraiva; P M da Silva; Carolino Monteiro
Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.
American journal of medical genetics 2001;99(4):331-4.
2000: Glória Isidro; Paulo Matos; S Almeida; S Claudino; Brendan Marshall; José Soares; Júlio Leite; Fernando Regateiro; M J Brito; J Giria; C Castro; J Ramos; L Novais; H Morna; Ana Medeira; Sérgio Castedo; Maria G Boavida
Eleven novel APC mutations identified in Portuguese FAP families.
Human mutation 2000;16(2):178.