Suchergebnisse - "Dulcetti, Francesca"

PubPharm (20)

1

Fetoplacental mosaicism : potential implications for false-positive and false-negative noninvasive prenatal screening results

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2014

von Grati, F. | Malvestiti, F. | Ferreira, J. | +11

2

De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses : chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

enthalten in: Prenatal diagnosis | 2014

von Malvestiti, F. | De Toffol, S. | Grimi, B. | +12

3

De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

enthalten in: Prenatal diagnosis | 2014

von Malvestiti, F. | De Toffol, S. | Grimi, B. | +12

4

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"

enthalten in: Prenatal diagnosis | 2013

von Grati, F. | Malvestiti, F. | Grimi, B. | +16

CommentOn: Prenat Diagn. 2013 May;33(5):502-8. - PMID 23606546

5

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”

enthalten in: Prenatal diagnosis | 2013

von Grati, F. | Malvestiti, F. | Grimi, B. | +16

6

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

enthalten in: Prenatal diagnosis | 2013

von Grati, F. | Malvestiti, F. | Grimi, B. | +16

CommentIn: Prenat Diagn. 2013 Nov;33(11):1115-6. - PMID 23868568

7

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

enthalten in: Prenatal diagnosis | 2013

von Grati, F. | Malvestiti, F. | Grimi, B. | +16

8

Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes

enthalten in: American journal of medical genetics. Part A | 2010

von Grati, F. | Barlocco, A. | Grimi, B. | +12

9

Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region

enthalten in: Genetic testing and molecular biomarkers | 2010

von De Toffol, S. | Bellone, E. | Dulcetti, F. | +7

10

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)

enthalten in: American journal of medical genetics. Part A | 2009

von Grati, F. | Lesperance, M. | De Toffol, S. | +11