Detalhe da pesquisa
1.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Nat Immunol
; 17(5): 495-504, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27019227
2.
Sex-chromosome dosage effects on gene expression in humans.
Proc Natl Acad Sci U S A
; 115(28): 7398-7403, 2018 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29946024
3.
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.
Am J Med Genet B Neuropsychiatr Genet
; 180(7): 471-482, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31161682
4.
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
J Hum Genet
; 62(2): 229-234, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604558
5.
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Am J Med Genet A
; 161A(10): 2487-94, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918653
6.
Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome.
Pediatr Cardiol
; 33(5): 757-63, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22349727
7.
Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression.
J Neurosci
; 30(10): 3803-12, 2010 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20220015
8.
A serotonin and melanocortin circuit mediates D-fenfluramine anorexia.
J Neurosci
; 30(44): 14630-4, 2010 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21048120
9.
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
Am J Med Genet A
; 152A(12): 3084-90, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108393
10.
Dynamic regulation of p53 subnuclear localization and senescence by MORC3.
Mol Biol Cell
; 18(5): 1701-9, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17332504
11.
Computing power of quantitative trait locus association mapping for haploid loci.
BMC Bioinformatics
; 10: 261, 2009 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19698182
12.
Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice.
Mol Endocrinol
; 22(7): 1723-34, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18451093
13.
NK cell defects in X-linked pigmentary reticulate disorder.
JCI Insight
; 4(21)2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31672938
14.
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
Hum Genet
; 123(5): 469-76, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18404279
15.
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.
J Pediatr
; 152(5): 716-22, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18410780
16.
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea.
Hum Reprod
; 23(1): 216-21, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17959613
17.
Cognitive and motor development during childhood in boys with Klinefelter syndrome.
Am J Med Genet A
; 146A(6): 708-19, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18266239
18.
Cryptic chromosomal abnormalities identified in children with congenital heart disease.
Pediatr Res
; 64(4): 358-63, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18535492
19.
EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 147B(4): 507-9, 2008 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17948898
20.
A Turner syndrome neurocognitive phenotype maps to Xp22.3.
Behav Brain Funct
; 3: 24, 2007 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-17517138