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47 patients with FLNA associated periventricular nodular heterotopia.
Published in:
2015
By:
- Lange, Max;
- Kasper, Burkhard;
- Bohring, Axel;
- Rutsch, Frank;
- Kluger, Gerhard;
- Hoffjan, Sabine;
- Spranger, Stephanie;
- Behnecke, Anne;
- Ferbert, Andreas;
- Hahn, Andreas;
- Oehl-Jaschkowitz, Barbara;
- Graul-Neumann, Luitgard;
- Diepold, Katharina;
- Schreyer, Isolde;
- Bernhard, Matthias K.;
- Mueller, Franziska;
- Siebers-Renelt, Ulrike;
- Beleza-Meireles, Ana;
- Uyanik, Goekhan;
- Janssens, Sandra
Publication type:
journal article
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 557, doi. 10.1002/ajmg.c.31749
By:
- Ostrowski, Philip J.;
- Zachariou, Anna;
- Loveday, Chey;
- Beleza‐Meireles, Ana;
- Bertoli, Marta;
- Dean, John;
- Douglas, Andrew G. L.;
- Ellis, Ian;
- Foster, Alison;
- Graham, John M.;
- Hague, Jennifer;
- Hilhorst‐Hofstee, Yvonne;
- Hoffer, Mariette;
- Johnson, Diana;
- Josifova, Dragana;
- Kant, Sarina G.;
- Kini, Usha;
- Lachlan, Katherine;
- Lam, Wayne;
- Lees, Melissa
Publication type:
Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
By:
- Mannucci, Ilaria;
- Dang, Nghi D. P.;
- Huber, Hannes;
- Murry, Jaclyn B.;
- Abramson, Jeff;
- Althoff, Thorsten;
- Banka, Siddharth;
- Baynam, Gareth;
- Bearden, David;
- Beleza-Meireles, Ana;
- Benke, Paul J.;
- Berland, Siren;
- Bierhals, Tatjana;
- Bilan, Frederic;
- Bindoff, Laurence A.;
- Braathen, Geir Julius;
- Busk, Øyvind L.;
- Chenbhanich, Jirat;
- Denecke, Jonas;
- Escobar, Luis F.
Publication type:
Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
By:
- Mannucci, Ilaria;
- Dang, Nghi D. P.;
- Huber, Hannes;
- Murry, Jaclyn B.;
- Abramson, Jeff;
- Althoff, Thorsten;
- Banka, Siddharth;
- Baynam, Gareth;
- Bearden, David;
- Beleza-Meireles, Ana;
- Benke, Paul J.;
- Berland, Siren;
- Bierhals, Tatjana;
- Bilan, Frederic;
- Bindoff, Laurence A.;
- Braathen, Geir Julius;
- Busk, Øyvind L.;
- Chenbhanich, Jirat;
- Denecke, Jonas;
- Escobar, Luis F.
Publication type:
Article
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2389, doi. 10.1002/ajmg.a.62775
By:
- Kaw, Anita;
- Kaw, Kaveeta;
- Hostetler, Ellen M.;
- Beleza‐Meireles, Ana;
- Smith‐Collins, Adam;
- Armstrong, Catherine;
- Scurr, Ingrid;
- Cotts, Timothy;
- Aatre, Rajani;
- Bamshad, Michael J.;
- Earl, Dawn;
- Groner, Abraham;
- Agre, Katherine;
- Raveh, Yehuda;
- Kwartler, Callie S.;
- Milewicz, Dianna M.
Publication type:
Article
A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3006, doi. 10.1002/ajmg.a.37343
By:
- Yilmaz, Rüstem;
- Beleza‐Meireles, Ana;
- Price, Susan;
- Oliveira, Renata;
- Kubisch, Christian;
- Clayton‐Smith, Jill;
- Szakszon, Katalin;
- Borck, Guntram
Publication type:
Article
Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 589, doi. 10.1002/ajmg.a.35713
By:
- Beleza‐Meireles, Ana;
- Matoso, Eunice;
- Ramos, Lina;
- Melo, Joana B.;
- Carreira, Isabel M.;
- Silva, Eduardo D.;
- Saraiva, Jorge M.
Publication type:
Article
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0
By:
- Sabir, Ataf H.;
- Morley, Elizabeth;
- Sheikh, Jameela;
- Calder, Alistair D.;
- Beleza-Meireles, Ana;
- Cheung, Moira S.;
- Cocca, Alessandra;
- Jansson, Mattias;
- Lillis, Suzanne;
- Patel, Yogen;
- Yau, Shu;
- Hall, Christine M.;
- Offiah, Amaka C.;
- Irving, Melita
Publication type:
Article
Risk Factors for Hypospadias in the Estrogen Receptor 2 Gene.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 9, p. 3712, doi. 10.1210/jc.2007-0543
By:
- Beleza-Meireles, Ana;
- Kockum, Ingrid;
- Lundberg, Fredrik;
- Söderhäll, Cilla;
- Nordenskjöld, Agneta
Publication type:
Article
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 4, p. 405, doi. 10.1038/sj.ejhg.5201777
By:
- Beleza-Meireles, Ana;
- Lundberg, Fredrik;
- Lagerstedt, Kristina;
- Zhou, Xiaolei;
- Omrani, Davood;
- Frisén, Louise;
- Nordenskjöld, Agneta
Publication type:
Article
Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias.
Published in:
European Journal of Endocrinology, 2008, v. 158, n. 5, p. 729, doi. 10.1530/EJE-07-0793
By:
- Ana Beleza-Meireles
Publication type:
Article
Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias.
Published in:
Reproductive Biology & Endocrinology, 2007, v. 5, p. 8, doi. 10.1186/1477-7827-5-8
By:
- Beleza-Meireles, Ana;
- Barbaro, Michela;
- Wedell, Anna;
- Töhönen, Virpi;
- Nordenskjöld, Agneta
Publication type:
Article
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model.
Published in:
Clinical Genetics, 2022, v. 102, n. 6, p. 494, doi. 10.1111/cge.14220
By:
- Sanchez Marco, Silvia Beatriz;
- Buhl, Edgar;
- Firth, Rose;
- Zhu, Bangfu;
- Gainsborough, Mary;
- Beleza‐Meireles, Ana;
- Moore, Sandra;
- Caswell, Richard;
- Stals, Karen;
- Ellard, Sian;
- Kennedy, Cameron;
- Hodge, James J. L.;
- Majumdar, Anirban
Publication type:
Article
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 11, p. 1900, doi. 10.1093/hmg/ddaa050
By:
- Alharatani, Reham;
- Ververi, Athina;
- Beleza-Meireles, Ana;
- Ji, Weizhen;
- Mis, Emily;
- Patterson, Quinten T;
- Griffin, John N;
- Bhujel, Nabina;
- Chang, Caitlin A;
- Dixit, Abhijit;
- Konstantino, Monica;
- Healy, Christopher;
- Hannan, Sumayyah;
- Neo, Natsuko;
- Cash, Alex;
- Li, Dong;
- Bhoj, Elizabeth;
- Zackai, Elaine H;
- Cleaver, Ruth;
- Baralle, Diana
Publication type:
Article
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0
By:
- Sabir, Ataf H.;
- Morley, Elizabeth;
- Sheikh, Jameela;
- Calder, Alistair D.;
- Beleza-Meireles, Ana;
- Cheung, Moira S.;
- Cocca, Alessandra;
- Jansson, Mattias;
- Lillis, Suzanne;
- Patel, Yogen;
- Shu Yau;
- Hall, Christine M.;
- Offiah, Amaka C.;
- Irving, Melita
Publication type:
Article
Descrição de uma forma autossômica dominante de síndrome de Kabukipor mutação no gene MLL2.
Published in:
Scientia Medica, 2013, v. 23, n. 1, p. 47, doi. 10.15448/1980-6108.2013.1.12083
By:
- Santos, Maria Inês;
- Beleza-Meireles, Ana;
- Loureiro, Susana;
- Fonseca, Margarida;
- Reis, Cláudia F.;
- Rodrigues, Fidjy;
- Ramos, Fabiana;
- Ramos, Lina;
- Cardoso, Elisa;
- Saraiva, Jorge
Publication type:
Article
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
By:
- Peter, Michelle;
- Mellis, Rhiannon;
- McInnes-Dean, Hannah;
- Daniel, Morgan;
- Walton, Holly;
- Fisher, Jane;
- Leeson-Beevers, Kerry;
- Allen, Stephanie;
- Baple, Emma L.;
- Beleza-Meireles, Ana;
- Bertoli, Marta;
- Campbell, Jennifer;
- Canham, Natalie;
- Cilliers, Deirdre;
- Cobben, Jan;
- Eason, Jacqueline;
- Harrison, Victoria;
- Holder-Espinasse, Muriel;
- Male, Alison;
- Mansour, Sahar
Publication type:
Article
Complex aetiology of an apparently Mendelian form of Mental Retardation.
Published in:
BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-6
By:
- Beleza-Meireles, Ana;
- Kockum, Ingrid;
- Qiu-Ping Yuan;
- Picelli, Simone;
- Wetterberg, Lennart;
- Gustavson, Karl-Henrik;
- Schalling, Martin
Publication type:
Article

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