Detalhe da pesquisa
1.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
2.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842493
3.
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Hum Mutat
; 36(6): 593-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25824905
4.
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
Hum Mutat
; 36(11): 1112, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26457590
5.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Hum Mol Genet
; 22(13): 2590-602, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23462291
6.
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Hum Mol Genet
; 22(10): 1960-70, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23390136
7.
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Am J Hum Genet
; 90(6): 1071-8, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608712
8.
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
BMC Med Genet
; 16: 51, 2015 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189493
9.
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
Am J Med Genet C Semin Med Genet
; 166C(3): 315-26, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25169753
10.
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Hum Mol Genet
; 21(24): 5306-17, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983954
11.
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
Am J Med Genet A
; 164A(12): 3061-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256099
12.
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
Acta Neuropathol Commun
; 12(1): 62, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637827
13.
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
Am J Med Genet A
; 155A(2): 343-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271651
14.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
J Med Genet
; 47(5): 299-311, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20452996
15.
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Mol Genet Genomic Med
; 9(9): e1768, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402213
16.
GABAergic abnormalities in the fragile X syndrome.
Eur J Paediatr Neurol
; 24: 100-104, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31926845
17.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun
; 11(1): 4932, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004838
18.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun
; 11(1): 5398, 2020 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087701
19.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Hum Mutat
; 30(3): 334-41, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006240
20.
Correction to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
J Mol Neurosci
; 64(2): 331, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353437