Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815585
2.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
3.
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Am J Med Genet A
; 182(6): 1400-1406, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32190976
4.
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Am J Med Genet A
; 176(5): 1175-1179, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29341437
5.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251352
6.
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Am J Med Genet A
; 170(10): 2731-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374371
7.
A Novel SHOC2 Variant in Rasopathy.
Hum Mutat
; 35(11): 1290-4, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25137548
8.
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Hum Mutat
; 35(4): 462-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415674
9.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543972
10.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937
11.
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(8): 1009-1011, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28660352
12.
What patients and their relatives think about testing for BMPR2.
J Genet Couns
; 17(5): 452-8, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18791814
13.
Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.
J Neurosurg Pediatr
; 20(2): 164-169, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28524787
14.
The role of genetics in pediatric endocrinology.
Pediatr Endocrinol Rev
; 1(3): 262-73, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16437020
15.
A copy number variation morbidity map of developmental delay.
Nat Genet
; 43(9): 838-46, 2011 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21841781
16.
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genet Med
; 9(7): 427-41, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17666889