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1.

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Schottlaender, Lucia V; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou-Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P M; Livingston, John H; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard-Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry.

Am J Hum Genet; 106(3): 412-421, 2020 Mar 05.

Artigo em Inglês | MEDLINE | ID: mdl-32142645

2.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Fischer-Zirnsak, Björn; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M; Fleming, Emily; Foss, Kimberly; Ha, Thoa; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-Hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F; Mirzaa, Ghayda; Ehmke, Nadja.

Am J Hum Genet; 105(3): 631-639, 2019 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-31353024

3.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S; Edvardson, Simon; Nolano, Maria; Devaux, Jérôme; Houlden, Henry.

Brain; 142(10): 2948-2964, 2019 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-31501903

4.

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.

Macnamara, Ellen F; Koehler, Alanna E; D'Souza, Precilla; Estwick, Tyra; Lee, Paul; Vezina, Gilbert; Fauni, Harper; Braddock, Stephen R; Torti, Erin; Holt, James Matthew; Sharma, Prashant; Malicdan, May Christine V; Tifft, Cynthia J.

Hum Mutat; 40(5): 532-538, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-30740830

5.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Besnard, Thomas; Sloboda, Natacha; Goldenberg, Alice; Küry, Sébastien; Cogné, Benjamin; Breheret, Flora; Trochu, Eva; Conrad, Solène; Vincent, Marie; Deb, Wallid; Balguerie, Xavier; Barbarot, Sébastien; Baujat, Geneviève; Ben-Omran, Tawfeg; Bursztejn, Anne-Claire; Carmignac, Virginie; Datta, Alexandre N; Delignières, Aline; Faivre, Laurence; Gardie, Betty; Guéant, Jean-Louis; Kuentz, Paul; Lenglet, Marion; Nassogne, Marie-Cécile; Ramaekers, Vincent; Schnur, Rhonda E; Si, Yue; Torti, Erin; Thevenon, Julien; Vabres, Pierre; Van Maldergem, Lionel; Wand, Dorothea; Wiedemann, Arnaud; Cariou, Bertrand; Redon, Richard; Lamazière, Antonin; Bézieau, Stéphane; Feillet, Francois; Isidor, Bertrand.

Genet Med; 21(9): 2025-2035, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-30723320

6.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti, Erin; Keren, Boris; Palmer, Elizabeth E; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J; Andrews, Marisa V; Atkinson, Celia; Au, Margaret; Berry, Susan A; Bowling, Kevin M; Boyle, Jackie; Buratti, Julien; Cathey, Sara S; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F; Finley, Sabra Ledare; Graham, John M; Grange, Dorothy K; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M; Hibbs, Kathleen A; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G; Person, Richard E.

Genet Med; 21(9): 2036-2042, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-30739909

7.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren.

Genet Med; 21(8): 1797-1807, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-30679821

8.

Retinoic acid receptor beta variant-related colonic hypoganglionosis.

Foster, Katharine J; Zhang, Stephanie Q; Braddock, Stephen R; Torti, Erin; Chikarmane, Rashmi; Sotelo-Avila, Cirilo; Greenspon, Jose.

Am J Med Genet A; 179(5): 817-821, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-30790422

9.

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Dines, Jennifer N; Liu, Yajuan J; Neufeld-Kaiser, Whitney; Sawyer, Taylor; Ishak, Gisele E; Tully, Hannah M; Racobaldo, Melissa; Sanchez-Valle, Amarilis; Disteche, Christine M; Juusola, Jane; Torti, Erin; McWalter, Kirsty; Doherty, Dan; Dipple, Katrina M.

Am J Med Genet A; 179(9): 1783-1790, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-31294511

10.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Chung, Wendy K; Martin, Kimberly; Jalas, Chaim; Braddock, Stephen R; Juusola, Jane; Monaghan, Kristin G; Warner, Barbara; Franks, Samuel; Yudkoff, Marc; Lulis, Lauren; Rhodes, Roy H; Prasad, Vinay; Torti, Erin; Cho, Megan T; Shinawi, Marwan.

J Med Genet; 52(9): 627-35, 2015 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-26185144

11.

Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation.

Pota, Pruthvi; Grammatopoulou, Vasiliki; Torti, Erin; Braddock, Stephen; Batanian, Jacqueline R.

Cytogenet Genome Res; 144(4): 280-4, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-25632983

12.

An intragenic deletion of the gene MNAT1 in a family with pectus deformities.

Heithaus, Jennifer L; Davenport, Sandra; Twyman, Kimberly A; Torti, Erin E; Batanian, Jacqueline R.

Am J Med Genet A; 164A(5): 1293-7, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24664931

13.

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

Torti, Erin E; Braddock, Stephen R; Bernreuter, Kristen; Batanian, Jacqueline R.

Am J Med Genet A; 161A(8): 1992-8, 2013 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-23894059

14.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend, Renee; Cohen, Lior; Carter, Melissa T; Lyons, Michael J; Niyazov, Dmitriy; Mikati, Mohamad A; Rojas, Samantha K; Person, Richard E; Si, Yue; Wentzensen, Ingrid M; Torti, Erin; Lee, Jennifer A; Boycott, Kym M; Basel-Salmon, Lina; Ferreira, Carlos R; Gonzaga-Jauregui, Claudia.

Eur J Hum Genet; 28(1): 76-87, 2020 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-31395947

15.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Kim, Hyung-Goo; Rosenfeld, Jill A; Scott, Daryl A; Bénédicte, Gerard; Labonne, Jonathan D; Brown, Jason; McGuire, Marianne; Mahida, Sonal; Naidu, Sakkubai; Gutierrez, Jacqueline; Lesca, Gaetan; des Portes, Vincent; Bruel, Ange-Line; Sorlin, Arthur; Xia, Fan; Capri, Yline; Muller, Eric; McKnight, Dianalee; Torti, Erin; Rüschendorf, Franz; Hummel, Oliver; Islam, Zeyaul; Kolatkar, Prasanna R; Layman, Lawrence C; Ryu, Duchwan; Kong, Il-Keun; Madan-Khetarpal, Suneeta; Kim, Cheol-Hee.

Mol Autism; 10: 35, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31649809

16.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L; Boysen, Katja; Muir, Alison M.

Nat Commun; 10(1): 3094, 2019 07 12.

Artigo em Inglês | MEDLINE | ID: mdl-31300657

17.

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Hintze, Jonathan P; Kirby, Amelia; Torti, Erin; Batanian, Jacqueline R.

Mol Syndromol; 7(2): 80-6, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-27385964

18.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa, Ghayda; Timms, Andrew E; Conti, Valerio; Boyle, Evan August; Girisha, Katta M; Martin, Beth; Kircher, Martin; Olds, Carissa; Juusola, Jane; Collins, Sarah; Park, Kaylee; Carter, Melissa; Glass, Ian; Krägeloh-Mann, Inge; Chitayat, David; Parikh, Aditi Shah; Bradshaw, Rachael; Torti, Erin; Braddock, Stephen; Burke, Leah; Ghedia, Sondhya; Stephan, Mark; Stewart, Fiona; Prasad, Chitra; Napier, Melanie; Saitta, Sulagna; Straussberg, Rachel; Gabbett, Michael; O'Connor, Bridget C; Keegan, Catherine E; Yin, Lim Jiin; Lai, Angeline Hwei Meeng; Martin, Nicole; McKinnon, Margaret; Addor, Marie-Claude; Boccuto, Luigi; Schwartz, Charles E; Lanoel, Agustina; Conway, Robert L; Devriendt, Koenraad; Tatton-Brown, Katrina; Pierpont, Mary Ella; Painter, Michael; Worgan, Lisa; Reggin, James; Hennekam, Raoul; Tsuchiya, Karen; Pritchard, Colin C; Aracena, Mariana; Gripp, Karen W.

JCI Insight; 1(9)2016 06 16.

Artigo em Inglês | MEDLINE | ID: mdl-27631024

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