Pesquisa | BVS IEC

1.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Niggl, Eva; Bouman, Arjan; Briere, Lauren C; Hoogenboezem, Remco M; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D R O; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J; Bertrand, Miriam; Blesson, Alyssa E; Clayton-Smith, Jill; Ellingford, Jamie M; Gillentine, Madelyn A; Goodloe, Dana H; Haack, Tobias B; Jain, Mahim; Krantz, Ian; Luu, Sharon M; McPheron, Molly; Muss, Candace L; Raible, Sarah E; Robin, Nathaniel H; Spiller, Michael; Starling, Susan; Sweetser, David A; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Zhou, Dihong; Elgersma, Ype; van Esbroeck, Annelot C M.

Am J Hum Genet ; 110(8): 1414-1435, 2023 08 03.

Artigo em Inglês | MEDLINE | ID: mdl-37541189

2.

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.

Myers, Scott J; Yuan, Hongjie; Perszyk, Riley E; Zhang, Jing; Kim, Sukhan; Nocilla, Kelsey A; Allen, James P; Bain, Jennifer M; Lemke, Johannes R; Lal, Dennis; Benke, Timothy A; Traynelis, Stephen F.

Hum Mol Genet ; 32(19): 2857-2871, 2023 09 16.

Artigo em Inglês | MEDLINE | ID: mdl-37369021

3.

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.

Artigo em Inglês | MEDLINE | ID: mdl-35981081

4.

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.

Sudnawa, Khemika K; Li, Wenxing; Calamia, Sean; Kanner, Cara H; Bain, Jennifer M; Abdelhakim, Aliaa H; Geltzeiler, Alexa; Mebane, Caroline M; Provenzano, Frank A; Sands, Tristan T; Fee, Robert J; Montes, Jacqueline; Shen, Yufeng; Chung, Wendy K.

Genet Med ; : 101169, 2024 May 20.

Artigo em Inglês | MEDLINE | ID: mdl-38785164

5.

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

Sudnawa, Khemika K; Garber, Alison; Cohen, Ryan; Calamia, Sean; Kanner, Cara H; Montes, Jacqueline; Bain, Jennifer M; Fee, Robert J; Chung, Wendy K.

Clin Genet ; 105(5): 523-532, 2024 05.

Artigo em Inglês | MEDLINE | ID: mdl-38247296

6.

Assessing the feasibility of using the ketogenic diet in autism spectrum disorder.

Albers, Jacob; Kraja, Gearta; Eller, Danielle; Eck, Karen; McBrian, Danielle; Bain, Jennifer M.

J Hum Nutr Diet ; 36(4): 1303-1315, 2023 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-36478324

7.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Kreienkamp, Hans-Jürgen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-François; Michaud, Jacques L; Dumas, Meghan; Smith, Rosemarie; Löbel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M; Bain, Jennifer M; Lessel, Davor.

Hum Genet ; 141(2): 257-272, 2022 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-34907471

8.

Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.

Aravamuthan, Bhooma R; Shusterman, Michele; Green Snyder, Leeanne; Lemmon, Monica E; Bain, Jennifer M; Gross, Paul.

Dev Med Child Neurol ; 64(6): 723-733, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-35092695

9.

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.

Lippa, Natalie C; Barua, Subit; Aggarwal, Vimla; Pereira, Elaine; Bain, Jennifer M.

BMC Neurol ; 21(1): 358, 2021 Sep 16.

Artigo em Inglês | MEDLINE | ID: mdl-34530748

10.

Genetic testing in individuals with cerebral palsy.

May, Halie J; Fasheun, Jennifer A; Bain, Jennifer M; Baugh, Evan H; Bier, Louise E; Revah-Politi, Anya; Roye, David P; Goldstein, David B; Carmel, Jason B.

Dev Med Child Neurol ; 63(12): 1448-1455, 2021 12.

Artigo em Inglês | MEDLINE | ID: mdl-34114234

11.

Inclusion and perception of hand therapy content in occupational therapy programs: A mixed-method study.

Short, Nathan; Bain, Jennifer; Barker, Courtney; Dammeyer, Kristina; Fahrney, Ethan; Hale, Kalin; Nieman, Caitlyn.

J Hand Ther ; 33(1): 112-118, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-30679089

12.

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Bain, Jennifer M; Cho, Megan T; Telegrafi, Aida; Wilson, Ashley; Brooks, Susan; Botti, Christina; Gowans, Gordon; Autullo, Leigh Anne; Krishnamurthy, Vidya; Willing, Marcia C; Toler, Tomi L; Ben-Zev, Bruria; Elpeleg, Orly; Shen, Yufeng; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K.

Am J Hum Genet ; 99(3): 728-734, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27545675

13.

Hirsutism in Women.

Matheson, Eric; Bain, Jennifer.

Am Fam Physician ; 100(3): 168-175, 2019 08 01.

Artigo em Inglês | MEDLINE | ID: mdl-31361105

14.

Prevalence of Seizures in Pediatric Extracorporeal Membrane Oxygenation Patients as Measured by Continuous Electroencephalography.

Okochi, Shunpei; Shakoor, Aqsa; Barton, Sunjay; Zenilman, Ariela R; Street, Cherease; Streltsova, Svetlana; Cheung, Eva W; Middlesworth, William; Bain, Jennifer M.

Pediatr Crit Care Med ; 19(12): 1162-1167, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30247227

15.

A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.

White-Brown, Alexandre M; Lemire, Gabrielle; Ito, Yoko A; Thornburg, Olivia; Bain, Jennifer M; Dyment, David A.

Am J Med Genet A ; 188(2): 668-671, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34719854

16.

Self-assembled MmsF proteinosomes control magnetite nanoparticle formation in vitro.

Rawlings, Andrea E; Bramble, Jonathan P; Walker, Robyn; Bain, Jennifer; Galloway, Johanna M; Staniland, Sarah S.

Proc Natl Acad Sci U S A ; 111(45): 16094-9, 2014 Nov 11.

Artigo em Inglês | MEDLINE | ID: mdl-25349410

17.

Bioinspired nanoreactors for the biomineralisation of metallic-based nanoparticles for nanomedicine.

Bain, Jennifer; Staniland, Sarah S.

Phys Chem Chem Phys ; 17(24): 15508-21, 2015 Jun 28.

Artigo em Inglês | MEDLINE | ID: mdl-25865599

18.

Oral health education and therapy reduces gingivitis during pregnancy.

Geisinger, Maria L; Geurs, Nicolaas C; Bain, Jennifer L; Kaur, Maninder; Vassilopoulos, Philip J; Cliver, Suzanne P; Hauth, John C; Reddy, Michael S.

J Clin Periodontol ; 41(2): 141-8, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-24164645

19.

Evolving capacity and decision-making in practice: adolescents' access to legal abortion services in Mexico City.

Clyde, Jessie; Bain, Jennifer; Castagnaro, Kelly; Rueda, Marcela; Tatum, Carrie; Watson, Katherine.

Reprod Health Matters ; 21(41): 167-75, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23684199

20.

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Gonzalez, Joseph Nicho; Goldman, Sylvie; Carter, Melissa T; Bain, Jennifer M.

Genes (Basel) ; 14(6)2023 05 26.

Artigo em Inglês | MEDLINE | ID: mdl-37372334

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