Pesquisa | Biblioteca Virtual em Saúde

1.

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Lupiáñez, Darío G; Kraft, Katerina; Heinrich, Verena; Krawitz, Peter; Brancati, Francesco; Klopocki, Eva; Horn, Denise; Kayserili, Hülya; Opitz, John M; Laxova, Renata; Santos-Simarro, Fernando; Gilbert-Dussardier, Brigitte; Wittler, Lars; Borschiwer, Marina; Haas, Stefan A; Osterwalder, Marco; Franke, Martin; Timmermann, Bernd; Hecht, Jochen; Spielmann, Malte; Visel, Axel; Mundlos, Stefan.

Cell; 161(5): 1012-1025, 2015 May 21.

Artigo em Inglês | MEDLINE | ID: mdl-25959774

2.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome.

Bauer, Christiane K; Schneeberger, Pauline E; Kortüm, Fanny; Altmüller, Janine; Santos-Simarro, Fernando; Baker, Laura; Keller-Ramey, Jennifer; White, Susan M; Campeau, Philippe M; Gripp, Karen W; Kutsche, Kerstin.

Am J Hum Genet; 104(6): 1139-1157, 2019 Jun 06.

Artigo em Inglês | MEDLINE | ID: mdl-31155282

3.

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E; Annerén, Göran; Stattin, Eva-Lena; Palomares-Bralo, María; Santos-Simarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura.

Clin Genet; 95(5): 607-614, 2019 May.

Artigo em Inglês | MEDLINE | ID: mdl-30859550

4.

MAGEL2-related disorders: A study and case series.

Patak, Jameson; Gilfert, James; Byler, Melissa; Neerukonda, Vamsee; Thiffault, Isabelle; Cross, Laura; Amudhavalli, Shivarajan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Garcia-Minaur, Sixto; Santos-Simarro, Fernando; Powis, Zoe; Alcaraz, Wendy; Tang, Sha; Jurgens, Julie; Barry, Brenda; England, Eleina; Engle, Elizabeth; Hess, Jonathon; Lebel, Robert R.

Clin Genet; 96(6): 493-505, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-31397880

5.

Further delineation of Malan syndrome.

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela.

Hum Mutat; 39(9): 1226-1237, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29897170

6.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Rodriguez-Laguna, Lara; Ibañez, Kristina; Gordo, Gema; Garcia-Minaur, Sixto; Santos-Simarro, Fernando; Agra, Noelia; Vallespín, Elena; Fernández-Montaño, Victoria E; Martín-Arenas, Rubén; Del Pozo, Ángela; González-Pecellín, Héctor; Mena, Rocío; Rueda-Arenas, Inmaculada; Gomez, María V; Villaverde, Cristina; Bustamante, Ana; Ayuso, Carmen; Ruiz-Perez, Víctor L; Nevado, Julián; Lapunzina, Pablo; Lopez-Gutierrez, Juan C; Martinez-Glez, Victor.

Genet Med; 20(8): 882-889, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-29446767

7.

Noncoding copy-number variations are associated with congenital limb malformation.

Flöttmann, Ricarda; Kragesteen, Bjørt K; Geuer, Sinje; Socha, Magdalena; Allou, Lila; Sowinska-Seidler, Anna; Bosquillon de Jarcy, Laure; Wagner, Johannes; Jamsheer, Aleksander; Oehl-Jaschkowitz, Barbara; Wittler, Lars; de Silva, Deepthi; Kurth, Ingo; Maya, Idit; Santos-Simarro, Fernando; Hülsemann, Wiebke; Klopocki, Eva; Mountford, Roger; Fryer, Alan; Borck, Guntram; Horn, Denise; Lapunzina, Pablo; Wilson, Meredith; Mascrez, Bénédicte; Duboule, Denis; Mundlos, Stefan; Spielmann, Malte.

Genet Med; 20(6): 599-607, 2018 06.

Artigo em Inglês | MEDLINE | ID: mdl-29236091

8.

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

López, María; García-Oguiza, Alberto; Armstrong, Judith; García-Cobaleda, Inmaculada; García-Miñaur, Sixto; Santos-Simarro, Fernando; Seidel, Verónica; Domínguez-Garrido, Elena.

BMC Med Genet; 19(1): 36, 2018 03 05.

Artigo em Inglês | MEDLINE | ID: mdl-29506490

9.

Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain.

Muñoz-Cabello, Patricia; García-Miñaúr, Sixto; Espinel-Vallejo, Manuel Eliecer; Fernández-Franco, Lorenzo; Stephens, Alexandra; Santos-Simarro, Fernando; Lapunzina-Badía, Pablo; McAllister, Marion.

J Genet Couns; 27(3): 732-743, 2018 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-28944441

10.

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Rodriguez-Zabala, Maria; Aza-Carmona, Miriam; Rivera-Pedroza, Carlos I; Belinchón, Alberta; Guerrero-Zapata, Isabel; Barraza-García, Jimena; Vallespin, Elena; Lu, Min; Del Pozo, Angela; Glucksman, Marc J; Santos-Simarro, Fernando; Heath, Karen E.

Hum Mutat; 38(11): 1471-1476, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28730625

11.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita, Masako; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Hayashi, Shion; Watanabe, Atsushi; Yokozawa, Masato; Suzumura, Hiroshi; Nakahara, Akihiko; Nakano, Yusuke; Hokosaki, Tatsunori; Ohmori, Ayumi; Sawada, Hirofumi; Migita, Ohsuke; Mima, Aya; Lapunzina, Pablo; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Ogata, Tsutomu; Kawame, Hiroshi; Kurosawa, Kenji; Ohashi, Hirofumi; Inoue, Shin-Ichi; Matsubara, Yoichi; Kure, Shigeo; Aoki, Yoko.

Hum Genet; 135(2): 209-22, 2016 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-26714497

12.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A.

Hum Genet; 135(5): 569-86, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-27071622

13.

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

Barraza-García, Jimena; Iván Rivera-Pedroza, Carlos; Salamanca, Luis; Belinchón, Alberta; López-González, Vanesa; Sentchordi-Montané, Lucía; del Pozo, Ángela; Santos-Simarro, Fernando; Campos-Barros, Ángel; Lapunzina, Pablo; Guillén-Navarro, Encarna; González-Casado, Isabel; García-Miñaur, Sixto; Heath, Karen E.

Am J Med Genet A; 170A(1): 210-6, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26374189

14.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio, Jair; Romanelli, Valeria; Martin-Trujillo, Alex; Fernández, García-Moya; Segovia, Mabel; Perandones, Claudia; Pérez Jurado, Luis A; Esteller, Manel; Fraga, Mario; Arias, Pedro; Gordo, Gema; Dapía, Irene; Mena, Rocío; Palomares, María; Pérez de Nanclares, Guiomar; Nevado, Julián; García-Miñaur, Sixto; Santos-Simarro, Fernando; Martinez-Glez, Víctor; Vallespín, Elena; Monk, David; Lapunzina, Pablo.

Am J Med Genet A; 170(10): 2740-9, 2016 10.

Artigo em Inglês | MEDLINE | ID: mdl-27480579

15.

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez-Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén-Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García-Santiago, Fé; González-Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A; Santos-Simarro, Fernando; García-Miñaur, Sixto; Fernández, Luis; Mena, Rocío; Benito-Sanz, Sara; del Pozo, Ángela; Silla, Juan Carlos; Ibañez, Kristina; López-Granados, Eduardo; Martín-Trujillo, Alex; Montaner, David; Heath, Karen E; Campos-Barros, Ángel; Dopazo, Joaquín; Nevado, Julián; Monk, David; Ruiz-Pérez, Víctor L; Lapunzina, Pablo.

Hum Mutat; 35(12): 1436-41, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-25196541

16.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

Delicado, Alicia; Fernández, Luis; de Torres, María Luisa; Nevado, Julián; García-Santiago, Fe Amalia; Rodríguez, Roberto; Mansilla, Elena; Palomares, María; Santos-Simarro, Fernando; Vallespín, Elena; Mori, María Ángeles; Lapunzina, Pablo.

BMC Med Genet; 15: 116, 2014 Oct 29.

Artigo em Inglês | MEDLINE | ID: mdl-25358766

17.

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Teresa-Rodrigo, María E; Eckhold, Juliane; Puisac, Beatriz; Dalski, Andreas; Gil-Rodríguez, María C; Braunholz, Diana; Baquero, Carolina; Hernández-Marcos, María; de Karam, Juan C; Ciero, Milagros; Santos-Simarro, Fernando; Lapunzina, Pablo; Wierzba, Jolanta; Casale, César H; Ramos, Feliciano J; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J; Pié, Juan.

Int J Mol Sci; 15(6): 10350-64, 2014 Jun 10.

Artigo em Inglês | MEDLINE | ID: mdl-24918291

18.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo, María; Vallespín, Elena; Del Pozo, Ángela; Ibañez, Kristina; Silla, Juan Carlos; Galán, Enrique; Gordo, Gema; Martínez-Glez, Víctor; Alba-Valdivia, Lázaro I; Heath, Karen E; García-Miñaúr, Sixto; Lapunzina, Pablo; Santos-Simarro, Fernando.

Genet Med; 19(11): 1285-1286, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28640240

19.

Chondrodysplasia punctata associated with maternal Sjögren syndrome.

Huarte, Natalia Marin; Santos-Simarro, Fernando; Abascal, Ignacio Pastor; García-Miñaur, Sixto; Omeñaca, Felix.

Am J Med Genet A; 164A(6): 1606-10, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24668828

20.

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.

Peces, Ramón; Mena, Rocío; Peces, Carlos; Santos-Simarro, Fernando; Fernández, Luis; Afonso, Sara; Lapunzina, Pablo; Selgas, Rafael; Nevado, Julián.

Mol Genet Genomic Med; 7(4): e00568, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30784238

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