Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Steinman, Kyle J; Spence, Sarah J; Ramocki, Melissa B; Proud, Monica B; Kessler, Sudha K; Marco, Elysa J; Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Chung, Wendy K; Sherr, Elliott H.

Am J Med Genet A ; 170(11): 2943-2955, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-27410714

2.

Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy.

El Achkar, Christelle M; Spence, Sarah J.

Epilepsy Behav ; 47: 183-90, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25599987

3.

A survey of seizures and current treatments in 15q duplication syndrome.

Conant, Kerry D; Finucane, Brenda; Cleary, Nicole; Martin, Ashley; Muss, Candace; Delany, Mary; Murphy, Erin K; Rabe, Olivia; Luchsinger, Kadi; Spence, Sarah J; Schanen, Carolyn; Devinsky, Orrin; Cook, Edwin H; LaSalle, Janine; Reiter, Lawrence T; Thibert, Ronald L.

Epilepsia ; 55(3): 396-402, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24502430

4.

Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.

Abreu, Nicolas J; Chiujdea, Madeline; Liu, Shanshan; Zhang, Bo; Spence, Sarah J.

Pediatr Neurol ; 150: 17-23, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-37939453

5.

Optimizing Care for Autistic Patients in Health Care Settings: A Scoping Review and Call to Action.

Harris, Holly K; Weissman, Laura; Friedlaender, Eron Y; Neumeyer, Ann M; Friedman, Alexander J; Spence, Sarah J; Rotman, Chloe; Krauss, Shari; Broder-Fingert, Sarabeth; Weitzman, Carol.

Acad Pediatr ; 24(3): 394-407, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37951351

6.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey, Flore; Sherr, Elliott H; Beckmann, Noam D; Hanson, Ellen; Maillard, Anne M; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Faucett, W Andrew; Goin-Kochel, Robin P; Grant, Ellen; Harewood, Louise; Hunter, Jill V; Lebon, Sébastien; Ledbetter, David H; Martin, Christa Lese; Männik, Katrin; Martinet, Danielle; Mukherjee, Pratik; Ramocki, Melissa B; Spence, Sarah J; Steinman, Kyle J; Tjernagel, Jennifer; Spiro, John E; Reymond, Alexandre; Beckmann, Jacques S; Chung, Wendy K; Jacquemont, Sébastien.

J Med Genet ; 49(10): 660-8, 2012 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23054248

7.

Impairment Types and Combinations Among Adolescents and Young Adults with Disabilities: Colorado 2014-2018.

Chien, Alyna T; Spence, Sarah J; Okumura, Megumi J; Lu, Sifan; Chan, Christina H; Houtrow, Amy J; Kuo, Dennis Z; Van Cleave, Jeanne M; Shanske, Susan A; Schuster, Mark A; Kuhlthau, Karen A; Toomey, Sara L.

Acad Pediatr ; 2023 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-37925071

8.

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

Moufawad El Achkar, Christelle; Rosen, Alyssa; Kessler, Sudha Kilaru; Steinman, Kyle J; Spence, Sarah J; Ramocki, Melissa; Marco, Elysa Jill; Green Snyder, LeeAnne; Spiro, John E; Chung, Wendy K; Annapurna, Poduri; Sherr, Elliott H.

Neurol Genet ; 8(5): e200018, 2022 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-36531974

9.

Common neurological co-morbidities in autism spectrum disorders.

Maski, Kiran P; Jeste, Shafali S; Spence, Sarah J.

Curr Opin Pediatr ; 23(6): 609-15, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21970828

10.

The role of epilepsy and epileptiform EEGs in autism spectrum disorders.

Spence, Sarah J; Schneider, Mark T.

Pediatr Res ; 65(6): 599-606, 2009 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-19454962

11.

Neurometabolic disorders and dysfunction in autism spectrum disorders.

Zecavati, Nassim; Spence, Sarah J.

Curr Neurol Neurosci Rep ; 9(2): 129-36, 2009 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19268036

12.

Evaluation and Management of the Child With Autism Spectrum Disorder.

Baumer, Nicole; Spence, Sarah J.

Continuum (Minneap Minn) ; 24(1, Child Neurology): 248-275, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29432246

13.

Testing autism interventions: trials and tribulations.

Spence, Sarah J; Thurm, Audrey.

Lancet ; 375(9732): 2124-5, 2010 Jun 19.

Artigo em Inglês | MEDLINE | ID: mdl-20494435

14.

Recent advances in autism spectrum disorders.

Spence, Sarah J; Tasker, Robert C; Pomeroy, Scott L.

Curr Opin Pediatr ; 23(6): 607-8, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21970831

15.

CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.

Shoffner, John; Trommer, Barbara; Thurm, Audrey; Farmer, Cristan; Langley, William A; Soskey, Laura; Rodriguez, Aldeboran N; D'Souza, Precilla; Spence, Sarah J; Hyland, Keith; Swedo, Susan E.

Neurology ; 86(24): 2258-63, 2016 06 14.

Artigo em Inglês | MEDLINE | ID: mdl-27178705

16.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M; Faucett, W Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J R A; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina; Forzano, Francesca; Gérard, Marion; Goin-Kochel, Robin P; Grant, Ellen; Hunter, Jill V; Isidor, Bertrand; Jacquette, Aurélia; Jønch, Aia E; Keren, Boris; Lacombe, Didier; Le Caignec, Cédric; Martin, Christa Lese; Männik, Katrin; Metspalu, Andres; Mignot, Cyril; Mukherjee, Pratik; Owen, Michael J; Passeggeri, Marzia; Rooryck-Thambo, Caroline; Rosenfeld, Jill A; Spence, Sarah J; Steinman, Kyle J; Tjernagel, Jennifer; Van Haelst, Mieke; Shen, Yiping; Draganski, Bogdan; Sherr, Elliott H; Ledbetter, David H; van den Bree, Marianne B M; Beckmann, Jacques S.

JAMA Psychiatry ; 73(1): 20-30, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26629640

17.

beta2-adrenergic receptor activation and genetic polymorphisms in autism: data from dizygotic twins.

Connors, Susan L; Crowell, Dorothy E; Eberhart, Charles G; Copeland, Joshua; Newschaffer, Craig J; Spence, Sarah J; Zimmerman, Andrew W.

J Child Neurol ; 20(11): 876-84, 2005 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-16417856

18.

Predicting Autism Spectrum Disorder in Very Preterm Infants.

Soul, Janet S; Spence, Sarah J.

Pediatrics ; 146(4)2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32900874

19.

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

Conciatori, Monica; Stodgell, Christopher J; Hyman, Susan L; O'Bara, Melanie; Militerni, Roberto; Bravaccio, Carmela; Trillo, Simona; Montecchi, Francesco; Schneider, Cindy; Melmed, Raun; Elia, Maurizio; Crawford, Lori; Spence, Sarah J; Muscarella, Lucianna; Guarnieri, Vito; D'Agruma, Leonardo; Quattrone, Alessandro; Zelante, Leopoldo; Rabinowitz, Daniel; Pascucci, Tiziana; Puglisi-Allegra, Stefano; Reichelt, Karl-Ludvig; Rodier, Patricia M; Persico, Antonio M.

Biol Psychiatry ; 55(4): 413-9, 2004 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-14960295

20.

The genetics of autism.

Spence, Sarah J.

Semin Pediatr Neurol ; 11(3): 196-204, 2004 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-15575414

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