Detalhe da pesquisa
1.
The fetus in the age of the genome.
Hum Genet
; 141(5): 1017-1026, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34426855
2.
General Cognitive Abilities and Psychosocial Development in Children and Adolescents Having a Co-Twin with Down Syndrome.
J Pediatr
; 232: 214-219, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450221
3.
Behavioral and psychological features in girls and women with triple-X syndrome.
Am J Med Genet A
; 176(11): 2284-2291, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30070765
4.
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.
Neurosurg Rev
; 37(1): 161-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23722637
5.
Novel FHL1 mutation in a family with reducing body myopathy.
Muscle Nerve
; 47(1): 127-34, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169582
6.
To know or not to know the genomic sequence of a fetus.
Nat Rev Genet
; 13(10): 676-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22945393
7.
An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis.
Nat Rev Genet
; 10(8): 515, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19546855
8.
Genome wide expression profiling identifies specific deregulated pathways in meningioma.
Int J Cancer
; 124(2): 346-51, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19003955
9.
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Eur J Hum Genet
; 16(1): 62-72, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17851451
10.
Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
Eur J Pediatr
; 167(2): 225-9, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17387511
11.
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
Invest Ophthalmol Vis Sci
; 48(11): 5007-12, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17962451
12.
Histopathologic indicators of recurrence in meningiomas: correlation with clinical and genetic parameters.
Virchows Arch
; 449(5): 529-38, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17016718
13.
Interstitial loss and gain of sequences on chromosome 22 in meningiomas with normal karyotype.
Int J Oncol
; 26(2): 385-93, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15645123
14.
Detailed chromosomal characterization of the breast cancer cell line MCF7 with special focus on the expression of the serine-threonine kinase 15.
Oncol Rep
; 14(1): 23-31, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15944763
15.
Allocation criteria for an initial shortage of a future SARS-CoV-2 vaccine and necessary measures for global immunity.
Vaccine
; 38(34): 5396-5397, 2020 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32600909
16.
A classification of the aims of vaccination and its relevance to transgenerational justice.
J Glob Health
; 10(1): 010341, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373320
17.
Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation: insights from the novel three dimensional speckle tracking echocardiography.
PLoS One
; 10(4): e0124112, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25901601
18.
New insights into the genetics of glioblastoma multiforme by familial exome sequencing.
Oncotarget
; 6(8): 5918-31, 2015 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537509
19.
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
Eur J Hum Genet
; 10(12): 790-800, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12461685
20.
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Eur J Hum Genet
; 12(11): 879-90, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15340364