Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
Majority of transferred mosaic embryos developed healthy live births revealed by a preclinical study using embryonic morphology assessment and noninvasive PGT-A on cell-free DNA in blastocoel fluid.
J Assist Reprod Genet
; 39(11): 2483-2504, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36422765
3.
Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.
Hum Mutat
; 38(4): 378-389, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27925688
4.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25140959
5.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
6.
Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.
Pflugers Arch
; 468(8): 1311-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27125215
7.
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
Am J Hum Genet
; 92(3): 375-86, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23472757
8.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
9.
Quantitative evaluation of left ventricular volume and function in middle-aged healthy chinese people with 3 Tesla MRI.
J Magn Reson Imaging
; 44(5): 1143-1150, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27015960
10.
Copy number variation plays an important role in clinical epilepsy.
Ann Neurol
; 75(6): 943-58, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24811917
11.
Autistic children exhibit decreased levels of essential Fatty acids in red blood cells.
Int J Mol Sci
; 16(5): 10061-76, 2015 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25946342
12.
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
Am J Hum Genet
; 89(6): 751-9, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22118881
13.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
14.
Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure.
Reprod Biomed Online
; 29(3): 382-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24912415
15.
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.
Genet Med
; 15(9): 706-12, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23558256
16.
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
Am J Med Genet B Neuropsychiatr Genet
; 162B(8): 832-40, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24019301
17.
Three-Tesla magnetic resonance imaging of left ventricular volume and function in comparison with computed tomography and echocardiography.
Medicine (Baltimore)
; 102(15): e33549, 2023 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058049
18.
Identification of novel rare mutations of DACT1 in human neural tube defects.
Hum Mutat
; 33(10): 1450-5, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22610794
19.
Mutations in HFM1 in recessive primary ovarian insufficiency.
N Engl J Med
; 370(10): 972-4, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24597873
20.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia
; 53(8): e146-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22690784