Works matching IS 14712350 AND DT 2014 AND VI 15 AND IP 1

Results: 142
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    Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 128, doi. 10.1186/s12881-014-0128-z
    By:
    • Dharmadhikari, Avinash V;
    • Gambin, Tomasz;
    • Szafranski, Przemyslaw;
    • Cao, Wenjian;
    • Probst, Frank J;
    • Weihong Jin;
    • Ping Fang;
    • Gogolewski, Krzysztof;
    • Gambin, Anna;
    • George-Abraham, Jaya K;
    • Golla, Sailaja;
    • Boidein, Francoise;
    • Duban-Bedu, Benedicte;
    • Delobel, Bruno;
    • Andrieux, Joris;
    • Becker, Kerstin;
    • Holinski-Feder, Elke;
    • Sau Wai Cheung;
    • Stankiewicz, Pawel
    Publication type:
    Article
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    Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 224, doi. 10.1186/s12881-014-0143-0
    By:
    • Henríquez-Hernández, Luis Alberto;
    • Valenciano, Almudena;
    • Foro-Arnalot, Palmira;
    • Álvarez-Cubero, María Jesús;
    • Cozar, José Manuel;
    • Suárez-Novo, José Francisco;
    • Castells-Esteve, Manel;
    • Fernández-Gonzalo, Pablo;
    • De-Paula-Carranza, Belén;
    • Ferrer, Montse;
    • Guedea, Ferrán;
    • Sancho-Pardo, Gemma;
    • Craven-Bartle, Jordi;
    • Ortiz-Gordillo, María José;
    • Cabrera-Roldán, Patricia;
    • Herrera-Ramos, Estefanía;
    • Rodríguez-Gallego, Carlos;
    • Rodríguez-Melcón, Juan Ignacio;
    • Lara, Pedro C.
    Publication type:
    Article
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    Duplication 9p and their implication to phenotype.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 207, doi. 10.1186/s12881-014-0142-1
    By:
    • Guilherme, Roberta Santos;
    • Meloni, Vera Ayres;
    • Alvarez Perez, Ana Beatriz;
    • Pilla, Ana Luiza;
    • de Ramos, Marco Antonio Paula;
    • Dantas, Anelisa Gollo;
    • Takeno, Sylvia Satomi;
    • Kulikowski, Leslie Domenici;
    • Melaragno, Maria Isabel
    Publication type:
    Article
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    Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 156, doi. 10.1186/s12881-014-0139-9
    By:
    • Brue, Thierry;
    • Quentien, Marie-Hélène;
    • Khetchoumian, Konstantin;
    • Bensa, Marco;
    • Capo-Chichi, José;
    • Delemer, Brigitte;
    • Balsalobre, Aurelio;
    • Nassif, Christina;
    • Papadimitriou, Dimitris T.;
    • Pagnier, Anne;
    • Hasselmann, Caroline;
    • Patry, Lysanne;
    • Schwartzentruber, Jeremy;
    • Souchon, Pierre-François;
    • Takayasu, Shinobu;
    • Enjalbert, Alain;
    • Van Vliet, Guy;
    • Majewski, Jacek;
    • Drouin, Jacques;
    • Samuels, Mark E.
    Publication type:
    Article
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    A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 82, doi. 10.1186/s12881-014-0134-1
    By:
    • McLaughlin, Heather M.;
    • Ceyhan-Birsoy, Ozge;
    • Christensen, Kurt D.;
    • Kohane, Isaac S.;
    • Krier, Joel;
    • Lane, William J.;
    • Lautenbach, Denise;
    • Lebo, Matthew S.;
    • Machini, Kalotina;
    • MacRae, Calum;
    • Azzariti, Danielle R.;
    • Murray, Michael F.;
    • Seidman, Christine E.;
    • Vassy, Jason L.;
    • Green, Robert C.;
    • Rehm, Heidi L.
    Publication type:
    Article
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    Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5
    By:
    • Ritelli, Marco;
    • Chiarelli, Nicola;
    • Dordoni, Chiara;
    • Reffo, Elena;
    • Venturini, Marina;
    • Quinzani, Stefano;
    • Monica, Matteo Della;
    • Scarano, Gioacchino;
    • Santoro, Giuseppe;
    • Russo, Maria Giovanna;
    • Calzavara-Pinton, Piergiacomo;
    • Milanesi, Ornella;
    • Colombi, Marina
    Publication type:
    Article
    24

    Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0121-6
    By:
    • Knez, Judita;
    • Salvi, Erika;
    • Tikhonoff, Valérie;
    • Stolarz-Skrzypek, Katarzyna;
    • Ryabikov, Andrew;
    • Thijs, Lutgarde;
    • Braga, Daniele;
    • Kloch-Badelek, Malgorzata;
    • Malyutina, Sofia;
    • Casiglia, Edoardo;
    • Czarnecka, Danuta;
    • Kawecka-Jaszcz, Kalina;
    • Cusi, Daniele;
    • Nawrot, Tim;
    • Staessen, Jan A.;
    • Kuznetsova, Tatiana
    Publication type:
    Article
    25

    Fragile X protein in newborn dried blood spots.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0119-0
    By:
    • Adayev, Tatyana;
    • LaFauci, Giuseppe;
    • Dobkin, Carl;
    • Caggana, Michele;
    • Wiley, Veronica;
    • Field, Michael;
    • Wotton, Tiffany;
    • Kascsak, Richard;
    • Nolin, Sarah L.;
    • Glicksman, Anne;
    • Hosmer, Nicole;
    • Ted Brown, W.
    Publication type:
    Article
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    Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0111-8
    By:
    • Bayley, Jean-Pierre;
    • Oldenburg, Rogier A.;
    • Nuk, Jennifer;
    • Hoekstra, Attje S.;
    • Van der Meer, Conny A.;
    • Korpershoek, Esther;
    • McGillivray, Barbara;
    • Corssmit, Eleonora P. M.;
    • Dinjens, Winand N. M.;
    • De Krijger, Ronald R.;
    • Devilee, Peter;
    • Jansen, Jeroen C.;
    • Hes, Frederik J.
    Publication type:
    Article
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    Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0093-6
    By:
    • Shah, Shivang S.;
    • Machariaria, Alex;
    • Makale, Johnstone;
    • Uyoga, Sophie;
    • Kivinen, Katja;
    • Craik, Rachel;
    • Hubbart, Christina;
    • Wellems, Thomas E.;
    • Rockett, Kirk A.;
    • Kwiatkowski, Dominic P.;
    • Williams, Thomas N
    Publication type:
    Article
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    Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0096-3
    By:
    • Borsatto, Taciane;
    • Sperb-Ludwig, Fernanda;
    • Pinto, Louise L. C.;
    • De Luca, Gisele R.;
    • Carvalho, Francisca L.;
    • De Souza, Carolina F. M.;
    • De Medeiros, Paula F. V.;
    • Lourenço, Charles M.;
    • Filho, Reinaldo L. O.;
    • Neto, Eurico C.;
    • Bernardi, Pricila;
    • Leistner-Segal, Sandra;
    • Schwartz, Ida V. D.
    Publication type:
    Article
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