Detalhe da pesquisa
1.
Effect of Growth Hormone Secretagogue Receptor Deletion on Growth, Pulsatile Growth Hormone Secretion, and Meal Pattern in Male and Female Mice.
Neuroendocrinology
; 112(3): 215-234, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-33774644
2.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
3.
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Hum Mol Genet
; 27(2): 224-238, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29077851
4.
De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa.
Eat Weight Disord
; 25(6): 1643-1650, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664672
5.
Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.
J Neural Transm (Vienna)
; 126(11): 1505-1511, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388831
6.
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Hum Mol Genet
; 24(4): 1106-18, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305082
7.
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
Hum Mol Genet
; 23(6): 1516-26, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24179174
8.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623388
9.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
10.
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat
; 36(1): 106-17, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385192
11.
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Am J Med Genet A
; 167A(12): 3076-81, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358754
12.
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Amino Acids
; 47(12): 2647-58, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26215737
13.
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Brain
; 137(Pt 6): 1676-700, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24860126
14.
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
Proc Natl Acad Sci U S A
; 109(36): 14514-9, 2012 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912398
15.
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
Am J Med Genet A
; 164A(3): 789-95, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357419
16.
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Neurogenetics
; 14(3-4): 215-24, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24072599
17.
Chronic food restriction in mice and increased systemic ghrelin induce preference for running wheel activity.
Psychoneuroendocrinology
; 155: 106311, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37295225
18.
The role of dysregulated ghrelin/LEAP-2 balance in anorexia nervosa.
iScience
; 26(11): 107996, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867951
19.
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Hum Mol Genet
; 19(22): 4462-73, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20829227
20.
Association between the IL-1 family gene cluster and spondyloarthritis.
Ann Rheum Dis
; 71(6): 885-90, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22312160