Detalles de la búsqueda
1.
Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.
Pathologica
; 116(1): 62-68, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38482676
2.
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.
Genet Med
; 16(8): 620-4, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24525917
3.
De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches.
Prenat Diagn
; 34(5): 460-8, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24436202
4.
Application of a new molecular technique for the genetic evaluation of products of conception.
Prenat Diagn
; 33(1): 32-41, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23168908
5.
QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses.
Prenat Diagn
; 33(5): 502-8, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23606546
6.
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories.
Prenat Diagn
; 32(4): 329-35, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22467163
7.
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
Genet Med
; 12(10): 634-40, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20847698
8.
Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.
Am J Med Genet A
; 152A(6): 1434-42, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20503318
9.
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).
Am J Med Genet A
; 149A(5): 906-13, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19353688
10.
Response to "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses".
Prenat Diagn
; 33(11): 1117, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24590588
11.
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
JCO Precis Oncol
; 22018.
Artículo
en Inglés
| MEDLINE | ID: mdl-31517176
12.
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
Hum Mutat
; 27(10): 1047-56, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16941473
13.
Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH.
Prenat Diagn
; 30(3): 280-3, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20049850
14.
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Clin Case Rep
; 2(2): 25-32, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25356238
15.
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.
Case Rep Genet
; 2013: 306098, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23762669
16.
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.
Genet Test Mol Biomarkers
; 14(2): 225-31, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20187762
17.
Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions.
Mol Cell Probes
; 22(5-6): 316-9, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18657607
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