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1.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet;
105(4): 844-853, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585108
2.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet;
105(4): 689-705, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
3.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet;
105(3): 606-615, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
4.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet;
2018 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471716
5.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet;
102(2): 309-320, 2018 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
6.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet;
103(5): 752-768, 2018 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
7.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain;
142(11): 3351-3359, 2019 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504246
8.
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Am J Med Genet C Semin Med Genet;
2019 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31441589
9.
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Am J Hum Genet;
99(5): 1117-1129, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773430
10.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med;
2019 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263215
11.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med;
2019 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
12.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain;
2018 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365063
13.
Further delineation of Malan syndrome.
Hum Mutat;
39(9): 1226-1237, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
14.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genet Med;
20(11): 1354-1364, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671837
15.
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Am J Med Genet A;
2018 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30513141
16.
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Am J Med Genet A;
176(3): 676-681, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29341397
17.
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Am J Med Genet A;
2018 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063105
18.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain;
140(10): 2610-2622, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969385
19.
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
Am J Med Genet A;
173(12): 3127-3131, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29048727
20.
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.
Am J Med Genet A;
2017 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28464511