Detalhe da pesquisa
1.
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Hum Genet
; 140(12): 1665-1678, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34448047
2.
Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Clin Genet
; 85(5): 446-51, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23683030
3.
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.
Haemophilia
; 14(3): 593-8, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18328062
4.
Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study.
Eur J Neurol
; 15(12): 1338-44, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19049551
5.
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
Am J Med Genet
; 95(4): 336-8, 2000 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-11186887
6.
Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.
Am J Med Genet A
; 149A(5): 1058-61, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353587
7.
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
Ophthalmic Genet
; 20(2): 127-31, 1999 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10420199
8.
Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
Ophthalmic Genet
; 21(3): 185-9, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11035551
9.
A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers.
Genet Couns
; 12(1): 95-100, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-11332984
10.
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.
Genet Couns
; 11(3): 261-5, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-11043434
11.
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.
Genet Couns
; 13(2): 171-7, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12150218
12.
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
J Assist Reprod Genet
; 25(9-10): 477-81, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18853247
13.
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.
Prenat Diagn
; 23(3): 232-4, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12627425
14.
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid.
Prenat Diagn
; 20(1): 63-5, 2000 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-10701855
15.
Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosed in the second trimester.
Fetal Diagn Ther
; 15(2): 97-101, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-10720874
16.
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
Prenat Diagn
; 19(9): 884-6, 1999 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10521852
17.
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
Hum Mutat
; 12(3): 213, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-10651486
18.
Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.
Hum Mutat
; 12(3): 218, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-10660337
19.
Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.
Fetal Diagn Ther
; 16(2): 95-7, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-11173955
20.
Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: report of 66 cases.
Prenat Diagn
; 19(10): 934-40, 1999 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-10521819