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1.

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

McGee, Stacey R; Rajamanickam, Shivakumar; Adhikari, Sandeep; Falayi, Oluwatosin C; Wilson, Theresa A; Shayota, Brian J; Cooley Coleman, Jessica A; Skinner, Cindy; Caylor, Raymond C; Stevenson, Roger E; Quaio, Caio Robledo D' Angioli Costa; Wilke, Berenice Cunha; Bain, Jennifer M; Anyane-Yeboa, Kwame; Brown, Kaitlyn; Greally, John M; Bijlsma, Emilia K; Ruivenkamp, Claudia A L; Politi, Keren; Arbogast, Lydia A; Collard, Michael W; Huggenvik, Jodi I; Elsea, Sarah H; Jensik, Philip J.

Hum Mol Genet; 32(3): 386-401, 2023 01 13.

Artículo en Inglés | MEDLINE | ID: mdl-35981081

2.

Parental age effects and Rett syndrome.

Fang, Xiaolan; Baggett, Lauren M; Caylor, Raymond C; Percy, Alan K; Neul, Jeffrey L; Lane, Jane B; Glaze, Daniel G; Benke, Tim A; Marsh, Eric D; Motil, Kathleen J; Barrish, Judy O; Annese, Fran E; Skinner, Steven A.

Am J Med Genet A; 194(2): 160-173, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-37768187

3.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano.

Genet Med; 25(1): 49-62, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36322151

4.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cuscó, Ivon; Duran-Romaña, Ramon; Ekhilevitch, Nina; Fernández-Alvarez, Paula; Gordon, Christopher T; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M; Muir, Alison M; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E; Schnur, Rhonda E; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S; Vengoechea, Jaime; Ville, Dorothée; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G; Mefford, Heather C; Peeters, Hilde.

Genet Med; 24(12): 2464-2474, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36214804

5.

Nonrandom X Chromosome Inactivation Detection.

Caylor, Raymond C.

Curr Protoc; 3(4): e748, 2023 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-37074091

6.

Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.

Fang, Xiaolan; Fee, Timothy; Davis, Jessica; Stolerman, Elliot S; Caylor, Raymond C.

Cold Spring Harb Mol Case Stud; 9(3)2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-37263801

7.

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.

Haghshenas, Sadegheh; Foroutan, Aidin; Bhai, Pratibha; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Skinner, Cindy D; Caylor, Raymond C; Tedder, Matthew L; Stevenson, Roger E; Sadikovic, Bekim; Schwartz, Charles E.

Eur J Hum Genet; 31(8): 879-886, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-36797465

8.

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang, Xiaolan; Butler, Kameryn M; Abidi, Fatima; Gass, Jennifer; Beisang, Arthur; Feyma, Timothy; Ryther, Robin C; Standridge, Shannon; Heydemann, Peter; Jones, Mary; Haas, Richard; Lieberman, David N; Marsh, Eric D; Benke, Tim A; Skinner, Steve; Neul, Jeffrey L; Percy, Alan K; Friez, Michael J; Caylor, Raymond C.

Mol Genet Genomic Med; 10(5): e1917, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35318820

9.

HSD10 disease in a female: A case report and review of literature.

Upadia, Jariya; Walano, Nicolette; Noh, Grace S; Liu, Jiao; Li, Yuwen; Deputy, Stephen; Elliott, Lindsay T; Wong, Joaquin; Lee, Jennifer A; Caylor, Raymond C; Andersson, Hans C.

JIMD Rep; 62(1): 35-43, 2021 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-34765396

10.

The Caenorhabditis elegans voltage-gated calcium channel subunits UNC-2 and UNC-36 and the calcium-dependent kinase UNC-43/CaMKII regulate neuromuscular junction morphology.

Caylor, Raymond C; Jin, Yishi; Ackley, Brian D.

Neural Dev; 8: 10, 2013 May 10.

Artículo en Inglés | MEDLINE | ID: mdl-23663262

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