Pesquisa | Biblioteca Virtual em Saúde

1.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J; Duban-Bedu, Benedicte; Dubourg, Christèle; Eiset, Saga Elise; Escobar, Luis F; Ferrarini, Alessandra; Haack, Tobias B; Hashim, Mona; Heide, Solveig; Helbig, Katherine L; Helbig, Ingo; Heredia, Raul; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y; Lavillaureix, Alinoë; Lu, Xin; Maas, Saskia M; Maegawa, Gustavo H B; Marcelis, Carlo L M; Mark, Paul R; Masruha, Marcelo R; McLaughlin, Heather M; McWalter, Kirsty.

Am J Hum Genet; 104(6): 1210-1222, 2019 06 06.

Artigo em Inglês | MEDLINE | ID: mdl-31079897

2.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L.

N Engl J Med; 377(6): 544-552, 2017 08 10.

Artigo em Inglês | MEDLINE | ID: mdl-28792876

3.

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Prasov, Lev; Ullah, Ehsan; Turriff, Amy E; Warner, Blake M; Conley, Julie; Mark, Paul R; Hufnagel, Robert B; Huryn, Laryssa A.

Am J Med Genet A; 182(3): 493-497, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-32022389

4.

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E; Palmer, Elizabeth E; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Gonçalves, Ana R; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J; Douglas, Ganka; Alexander, Nora; Buckley, Michael F; Mark, Paul R; Adès, Lesley C; Sandaradura, Sarah A; Lupski, James R.

Hum Mutat; 2019 Oct 23.

Artigo em Inglês | MEDLINE | ID: mdl-31646703

5.

Mutation update for the SATB2 gene.

Zarate, Yuri A; Bosanko, Katherine A; Caffrey, Aisling R; Bernstein, Jonathan A; Martin, Donna M; Williams, Marc S; Berry-Kravis, Elizabeth M; Mark, Paul R; Manning, Melanie A; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H; Estrada-Veras, Juvianee I; van Dooren, Marieke F; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P; Maarup, Timothy J; Alsters, Suzanne Im; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M; Turner, Lesley; Raggio, Víctor; Spangenberg, Lucía; Garcia-Miñaúr, Sixto; Roeder, Elizabeth R; Littlejohn, Rebecca O; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.

Hum Mutat; 40(8): 1013-1029, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-31021519

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.

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.

Baker, Rachael A; Priestley, Jessica R C; Wilstermann, Amy M; Reese, Kalina J; Mark, Paul R.

Am J Med Genet A; 179(3): 373-380, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30582773

8.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-Gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G; Valente, Enza Maria.

J Med Genet; 53(9): 608-15, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27208211

9.

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.

Mark, Paul R; Radlinski, Brian C; Core, Nathalie; Fryer, Alan; Kirk, Edwin P; Haldeman-Englert, Chad R.

Am J Med Genet A; 161A(5): 1117-21, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23495172

10.

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Mark, Paul R; Torres-Martinez, Wilfredo; Lachman, Ralph S; Weaver, David D.

Am J Med Genet A; 155A(1): 174-9, 2011 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21204228

11.

SLC6A1 G443D associated with developmental delay and epilepsy.

Devries, Seth; Mulder, Monica; Charron, Jacob G; Prokop, Jeremy W; Mark, Paul R.

Cold Spring Harb Mol Case Stud; 6(4)2020 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-32660967

12.

Understanding nanoparticle assembly: a simulation approach to SERS-active dimers.

Mark, Paul R; Fabris, Laura.

J Colloid Interface Sci; 369(1): 134-43, 2012 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-22189386

13.

Comment on critical region for talipes equinovarus in patients with 5q23 deletions.

Tecos, Maria; Mark, Paul R.

Eur J Med Genet; 58(4): 243, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25676702

14.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Girirajan, Santhosh; Rosenfeld, Jill A; Cooper, Gregory M; Antonacci, Francesca; Siswara, Priscillia; Itsara, Andy; Vives, Laura; Walsh, Tom; McCarthy, Shane E; Baker, Carl; Mefford, Heather C; Kidd, Jeffrey M; Browning, Sharon R; Browning, Brian L; Dickel, Diane E; Levy, Deborah L; Ballif, Blake C; Platky, Kathryn; Farber, Darren M; Gowans, Gordon C; Wetherbee, Jessica J; Asamoah, Alexander; Weaver, David D; Mark, Paul R; Dickerson, Jennifer; Garg, Bhuwan P; Ellingwood, Sara A; Smith, Rosemarie; Banks, Valerie C; Smith, Wendy; McDonald, Marie T; Hoo, Joe J; French, Beatrice N; Hudson, Cindy; Johnson, John P; Ozmore, Jillian R; Moeschler, John B; Surti, Urvashi; Escobar, Luis F; El-Khechen, Dima; Gorski, Jerome L; Kussmann, Jennifer; Salbert, Bonnie; Lacassie, Yves; Biser, Alisha; McDonald-McGinn, Donna M; Zackai, Elaine H; Deardorff, Matthew A; Shaikh, Tamim H; Haan, Eric.

Nat Genet; 42(3): 203-9, 2010 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-20154674

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