Detalhe da pesquisa
1.
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
Int J Cancer
; 146(4): 999-1009, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081934
2.
Genomes of Ellobius species provide insight into the evolutionary dynamics of mammalian sex chromosomes.
Genome Res
; 26(9): 1202-10, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510564
3.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res
; 20(1): 7, 2018 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368626
4.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
J Med Genet
; 52(4): 240-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604083
5.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706941
6.
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
J Med Genet
; 50(12): 838-47, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24092917
7.
Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.
Chromosome Res
; 20(1): 191-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215485
8.
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
Cleft Palate Craniofac J
; 49(3): 357-64, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21539471
9.
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
Am J Med Genet A
; 152A(4): 994-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358615
10.
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
Stem Cell Reports
; 14(3): 390-405, 2020 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32084385
11.
C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle.
Muscle Nerve
; 50(3): 454-5, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24817207
12.
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
PLoS One
; 11(9): e0162592, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27632209
13.
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.
Am J Med Genet A
; 152A(8): 2143, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635357
14.
Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders.
Medicina (Kaunas)
; 41(8): 633-40, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16160410
15.
Denys-Drash syndrome.
Medicina (Kaunas)
; 41(2): 132-4, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15758579
16.
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.
Sex Dev
; 9(3): 136-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26043854
17.
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiol Aging
; 36(11): 3117.e1-3117.e6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362943
18.
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
Neurobiol Aging
; 35(5): 1214.e1-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24378086
19.
Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.
J Plast Reconstr Aesthet Surg
; 65(11): 1573-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22537416
20.
Genetic polymorphisms in the formaldehyde dehydrogenase gene and their biological significance.
Toxicol Lett
; 207(2): 121-7, 2011 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920416