Detalhe da pesquisa
1.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
2.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
3.
Advances in prenatal screening: the ethical dimension.
Nat Rev Genet
; 12(9): 657-63, 2011 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850045
4.
Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.
Clin Chem
; 61(12): 1515-23, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26467504
5.
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Am J Hum Genet
; 89(1): 94-110, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21763481
6.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nat Genet
; 30(4): 441-5, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889467
7.
LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung.
Am J Physiol Lung Cell Mol Physiol
; 303(9): L778-87, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22962010
8.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Nat Commun
; 13(1): 6570, 2022 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36323681
9.
Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.
Hum Reprod
; 26(11): 2915-7, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840907
10.
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Hum Mutat
; 31(1): 90-8, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19847789
11.
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Brain
; 131(Pt 4): 1078-86, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18321925
12.
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
Hum Mutat
; 28(10): 1034-42, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546640
13.
Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.
Public Health Genomics
; 18(5): 260-71, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26202817
14.
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Eur J Hum Genet
; 23(3): 317-24, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24939586
15.
Clinical study and haplotype analysis in two brothers with Partington syndrome.
Am J Med Genet
; 112(4): 361-8, 2002 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12376938
16.
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
Am J Med Genet
; 112(4): 427-8, 2002 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12376949
17.
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Eur J Med Genet
; 52(2-3): 94-100, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19249392
18.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Am J Hum Genet
; 81(4): 713-25, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17846997
19.
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.
Hum Mol Genet
; 12(13): 1463-74, 2003 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12812975
20.
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
Am J Med Genet A
; 119A(3): 367-74, 2003 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12784308