Search Results - "MEDEIRA, Ana"

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta by Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Sousa, Ana Berta, Medeira, Ana, Whiteford, Margo, Hermanns‐Lê, Trinh, Coucke, Paul J, De Paepe, Anne, Malfait, Fransiska

“…ABSTRACT Whereas the vast majority of osteogenesis imperfecta (OI) is caused by autosomal dominant defects in the genes encoding type I procollagen, mutations…”
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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype by Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

“…Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011,…”
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DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients by Gouveia-Silva, Raquel, Rodrigues-Alves, João, Dupont, Juliette, Moldovan, Oana, Dias, Patrícia, Rodrigues, Márcia, Medeira, Ana, Sousa, Ana B.

“…Introduction: DYRK1A heterozygous pathogenic variants have been shown to cause a syndromic form of intellectual disability (ID) with impaired speech…”
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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 by Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes

“…Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin…”
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Ophthalmological Aspects of Pierson Syndrome by Bredrup, Cecilie, Matejas, Verena, Barrow, Margaret, Bláhová, Květa, Bockenhauer, Detlef, Fowler, Darren J, Gregson, Richard M, Maruniak-Chudek, Iwona, Medeira, Ana, Mendonça, Erica Laima, Kagan, Mikhail, Koenig, Jens, Krastel, Hermann, Kroes, Hester Y, Saggar, Anand, Sawyer, Taylor, Schittkowski, Michael, Świetliński, Janusz, Thompson, Dorothy, VanDeVoorde, Rene G, Wittebol-Post, Dienke, Woodruff, Geoffrey, Zurowska, Aleksandra, Hennekam, Raoul C, Zenker, Martin, Russell-Eggitt, Isabelle

“…Purpose To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. Design…”
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Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence by DUNLOP, Elaine A, DODD, Kayleigh M, DUARTE MEDEIRA, Ana Maria, KINGSTON, Helen, SAMPSON, Julian R, DAVIES, David Mark, TEE, Andrew R, LAND, Stephen C, DAVIES, Peter A, MARTINS, Nicole, STUART, Helen, MCKEE, Shane, KINGSWOOD, Chris, SAGGAR, Anand, CORDERIO, Isabel

“…Tuberous sclerosis complex (TSC) is a genetic condition characterized by the growth of benign tumours in multiple organs, including the brain and kidneys,…”
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BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies by Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L, Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J, Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

“…RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been…”
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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience by Quelhas, Dulce, Martins, Esmeralda, Azevedo, Luísa, Bandeira, Anabela, Diogo, Luísa, Garcia, Paula, Sequeira, Sílvia, Ferreira, Ana Cristina, Teles, Elisa Leão, Rodrigues, Esmeralda, Fortuna, Ana Maria, Mendonça, Carla, Fernandes, Helena Cabral, Medeira, Ana, Gaspar, Ana, Janeiro, Patrícia, Oliveira, Anabela, Laranjeira, Francisco, Ribeiro, Isaura, Souche, Erica, Race, Valérie, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak

“…To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs)…”
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A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure: A Case Report and Mutation Update by Alvelos, Maria Inês, Rodrigues, Magda, Lobo, Luísa, Medeira, Ana, Sousa, Ana Berta, Simão, Carla, Lemos, Manuel Carlos

“…Hepatocyte nuclear factor 1 beta (HNF1B) plays an important role in embryonic development, namely in the kidney, pancreas, liver, genital tract, and gut…”
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Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum by Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B., Barrow, Margaret, Bláhová, Květa, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C., Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J., Koenig, Jens, Kogan, Jillene, Kroes, Hester Y., Kuwertz-Bröking, Eberhard, Lewanda, Amy F., Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin

“…Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic…”
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth by Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M, Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P M, Cabrol, Christelle, Haas, Stefan A, Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye

“…Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an…”
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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 by Moldovan, Oana, Carvalho, Raquel, Jorge, Zulmira, Medeira, Ana

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Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case by Girbal, Inês, Nunes, Teresa, Medeira, Ana, Bandeira, Teresa

“…Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main…”
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Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas by Dupont, Juliette, Pereira, Carla, Medeira, Ana, Duarte, Rui, Ellard, Sian, Sampaio, Lurdes

“…Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes diagnosed within the first 6 months of life. Heterozygous activation mutations in…”
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BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies by Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L, Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Holger, Thiele, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J, Altmüller, Janine, Reymond, Alexandre, Nünberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

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A new intellectual disability syndrome with digital anomalies by Dias, Patrícia, Medeira, Ana, Cordeiro, Isabel

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A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14 by Gonçalves, Vânia, Theisen, Patrícia, Antunes, Ofélia, Medeira, Ana, Ramos, José Silva, Jordan, Peter, Isidro, Glória

“…A missense mutation at codon 640 in the APC gene was identified in a familial adenomatous polyposis (FAP) patient, however, its pathological consequence…”
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Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas by Isidro, Glória, Laranjeira, Francisco, Pires, Ana, Leite, Júlio, Regateiro, Fernando, e Sousa, F. Castro, Soares, José, Castro, Clara, Giria, João, Brito, Maria J., Medeira, Ana, Teixeira, Ricardo, Morna, Henrique, Gaspar, Isabel, Marinho, Carla, Jorge, Rosa, Brehm, António, Ramos, J. Silva, Boavida, Maria Guida

“…Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal…”
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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients by ORRICO, Alfredo, GALLI, Lucia, CAVALIERE, Maria Luigia, GARAVELLI, Livia, FRYNS, Jean-Pierre, CRUSHELL, Ellen, RINALDI, Maria Michela, MEDEIRA, Ana, SORRENTINO, Vincenzo

“…Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to…”
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Determining the pathogenicity of patient-derived mutations by functional characterization and clinical evidence by Tee, Andrew Robert, Dunlop, Elaine A, Dodd, Kayleigh M, Land, Stephen C, Davies, Peter A, Martins, Nicole, Stuart, Helen, Mckee, Shane, Kingswood, Chris, Saggar, Anand, Cordeiro, Isabel, Medeira, Ana, Kingston, Helen, Sampson, Julian R., Davies, D Mark

“…Tuberous Sclerosis Complex is a genetic condition characterised by the growth of benign tumours in multiple organs, including the brain and kidneys, alongside…”
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