Detalhe da pesquisa
1.
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.
Prenat Diagn;
37(2): 201-205, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27943351
2.
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
J Lipid Res;
57(3): 482-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26802169
3.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn;
35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25754886
4.
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol;
29(12): 2191-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19762784
5.
Molecular characterization of iron-containing superoxide dismutases in the heterotrophic dinoflagellate Crypthecodinium cohnii.
Protist;
159(2): 223-38, 2008 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18276189
6.
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Eur J Hum Genet;
26(12): 1784-1790, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30135486
7.
The presence of four iron-containing superoxide dismutase isozymes in trypanosomatidae: characterization, subcellular localization, and phylogenetic origin in Trypanosoma brucei.
Free Radic Biol Med;
40(2): 210-25, 2006 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16413404
8.
Wilson disease in offspring of affected patients: report of four French families.
Clin Res Hepatol Gastroenterol;
37(3): 240-5, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23567103
9.
Morphological and molecular identification of non-Tritrichomonas foetus trichomonad protozoa from the bovine preputial cavity.
J Eukaryot Microbiol;
54(2): 161-8, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17403157
10.
Molecular identification of Tritrichomonas foetus-like organisms as coinfecting agents of human Pneumocystis pneumonia.
J Clin Microbiol;
44(3): 1165-8, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16517921
11.
Molecular phylogenies of Blastocystis isolates from different hosts: implications for genetic diversity, identification of species, and zoonosis.
J Clin Microbiol;
43(1): 348-55, 2005 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15634993
12.
Specificity and phenetic relationships of iron- and manganese-containing superoxide dismutases on the basis of structure and sequence comparisons.
J Biol Chem;
279(10): 9248-54, 2004 Mar 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14672935
13.
Molecular phylogeny of parabasalids inferred from small subunit rRNA sequences, with emphasis on the Devescovinidae and Calonymphidae (Trichomonadea).
Mol Phylogenet Evol;
25(3): 545-56, 2002 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12450758