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A Brazilian cohort of individuals with Phelan-McDermid syndrome genotype- phenotype correlation and identification of an atypical case

Claudia Ismania Samogy-Costa Elisa Varella-Branco; Frederico Monfardini; Helen Ferraz; Rodrigo Ambrosio Fock; Ricardo Henrique Almeida Barbosa; André Luiz Santos Pessoa; Ana Beatriz Alvarez Perez; Naila Lourenço; Maria Vibranovski; Ana Cristina Victorino Krepischi; Carla Rosenberg; Maria Rita Passos-Bueno

Journal of Neurodevelopmental Disorders London v. 11, article 13, 2019

London 2019

Item não circula. Consulte sua biblioteca.(Acessar)

2
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Costain, Gregory ; Walker, Susan ; Argiropoulos, Bob ; Baribeau, Danielle A ; Bassett, Anne S ; Boot, Erik ; Devriendt, Koen ; Kellam, Barbara ; Marshall, Christian R ; Prasad, Aparna ; Serrano, Moises A ; Stavropoulos, D James ; Twede, Hope ; Vermeesch, Joris R ; Vorstman, Jacob A S ; Scherer, Stephen W

Journal of neurodevelopmental disorders, 2019-02, Vol.11 (1), p.3-3, Article 3 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
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In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

Motahari, Zahra ; Moody, Sally Ann ; Maynard, Thomas Michael ; LaMantia, Anthony-Samuel

Journal of neurodevelopmental disorders, 2019-06, Vol.11 (1), p.7-28, Article 7 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model
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Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model

Lukkes, J L ; Drozd, H P ; Fitz, S D ; Molosh, A I ; Clapp, D W ; Shekhar, A

Journal of neurodevelopmental disorders, 2020-01, Vol.12 (1), p.2-13, Article 2 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders
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Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders

Rahn, Rachel M ; Weichselbaum, Claire T ; Gutmann, David H ; Dougherty, Joseph D ; Maloney, Susan E

Journal of neurodevelopmental disorders, 2021-03, Vol.13 (1), p.10-10, Article 10 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications
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Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Delling, Jan Philipp ; Boeckers, Tobias M

Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.55-55, Article 55 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance
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Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance

O'Hora, Kathleen P ; Lin, Amy ; Kushan-Wells, Leila ; Bearden, Carrie E

Journal of neurodevelopmental disorders, 2022-07, Vol.14 (1), p.41-16, Article 41 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome
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Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome

Kippenhan, J. Shane ; Gregory, Michael D ; Nash, Tiffany ; Kohn, Philip ; Mervis, Carolyn B ; Eisenberg, Daniel P ; Garvey, Madeline H ; Roe, Katherine ; Morris, Colleen A ; Kolachana, Bhaskar ; Pani, Ariel M ; Sorcher, Leah ; Berman, Karen F

Journal of neurodevelopmental disorders, 2023-08, Vol.15 (1), p.1-29, Article 29 [Periódico revisado por pares]

London: BioMed Central Ltd

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