Detalhe da pesquisa
1.
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
J Allergy Clin Immunol
; 149(4): 1464-1472.e3, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34536415
2.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32427345
3.
Plk4 is required for cytokinesis and maintenance of chromosomal stability.
Proc Natl Acad Sci U S A
; 107(15): 6888-93, 2010 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-20348415
4.
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
Eur J Pediatr
; 171(8): 1223-9, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22581207
5.
The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region.
Hum Mol Genet
; 18(22): 4255-67, 2009 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19684026
6.
Murine Pif1 interacts with telomerase and is dispensable for telomere function in vivo.
Mol Cell Biol
; 27(3): 1017-26, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17130244
7.
High definition cytogenetics and oligonucleotide aCGH analyses of cisplatin-resistant ovarian cancer cells.
Genes Chromosomes Cancer
; 47(5): 427-36, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18273836
8.
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.
J AAPOS
; 22(4): 312-314.e3, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29551606
9.
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Eur J Med Genet
; 61(6): 315-321, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29307790
10.
Novel 6p rearrangements and recurrent translocation breakpoints in retinoblastoma cell lines identified by spectral karyotyping and mBAND analyses.
Cancer Genet Cytogenet
; 179(2): 102-11, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18036396
11.
Identification of cryptic microaberrations in osteosarcoma by high-definition oligonucleotide array comparative genomic hybridization.
Cancer Genet Cytogenet
; 179(1): 52-61, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17981215
12.
Prkar1a is an osteosarcoma tumor suppressor that defines a molecular subclass in mice.
J Clin Invest
; 120(9): 3310-25, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20697156
13.
Distinct patterns of structural and numerical chromosomal instability characterize sporadic ovarian cancer.
Neoplasia
; 10(10): 1057-65, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18813350
14.
Epigenetic and phenotypic consequences of a truncation disrupting the imprinted domain on distal mouse chromosome 7.
Mol Cell Biol
; 28(3): 1092-103, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18039841
15.
The breakage-fusion-bridge (BFB) cycle as a mechanism for generating genetic heterogeneity in osteosarcoma.
Chromosoma
; 115(6): 459-67, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16897100