Works matching IS 01973851 AND DT 2015 AND VI 35 AND IP 10

Results: 19

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

Published in:

2015

By:

Hill, Melissa;
Twiss, Philip;
Verhoef, Talitha I.;
Drury, Suzanne;
McKay, Fiona;
Mason, Sarah;
Jenkins, Lucy;
Morris, Stephen;
Chitty, Lyn S.

Publication type:

journal article

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

Published in:

2015

By:

Filges, Isabel;
Friedman, Jan M.

Publication type:

journal article

The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure.

Published in:

2015

By:

Grati, Francesca Romana;
Bajaj, Komal;
Malvestiti, Francesca;
Agrati, Cristina;
Grimi, Beatrice;
Malvestiti, Barbara;
Pompilii, Eva;
Maggi, Federico;
Gross, Susan;
Simoni, Giuseppe;
Ferreira, Jose Carlos P.

Publication type:

journal article

Overview of the impact of noninvasive prenatal testing on diagnostic procedures.

Published in:

2015

By:

Warsof, Steven L.;
Larion, Sebastian;
Abuhamad, Alfred Z.

Publication type:

journal article

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

Published in:

2015

By:

Westerfield, Lauren E.;
Stover, Samantha R.;
Mathur, Veena S.;
Nassef, Salma A.;
Carter, Tiffiney G.;
Yang, Yaping;
Eng, Christine M.;
Van den Veyver, Ignatia B.

Publication type:

journal article

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Published in:

2015

By:

Drury, Suzanne;
Williams, Hywel;
Trump, Natalie;
Boustred, Christopher;
Lench, Nicholas;
Scott, Richard H.;
Chitty, Lyn S.

Publication type:

journal article

Next generation sequencing and the next generation: how genomics is revolutionizing reproduction.

Published in:

2015

By:

Chitty, Lyn S.;
Bianchi, Diana W.

Publication type:

Editorial

A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome.

Published in:

2015

By:

Dello Russo, Claudio;
Padula, Francesco;
Di Giacomo, Gianluca;
Mesoraca, Alvaro;
Gabrielli, Ivan;
Bizzoco, Domenico;
Giorlandino, Claudio

Publication type:

Case Study

Uterine leiomyoma confounding a noninvasive prenatal test result.

Published in:

2015

By:

Dharajiya, Nilesh G.;
Namba, Akira;
Horiuchi, Isao;
Miyai, Shunsuke;
Farkas, Daniel H.;
Almasri, Eyad;
Saldivar, Juan‐Sebastian;
Takagi, Kenjiro;
Kamei, Yoshimasa

Publication type:

Case Study

Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.

Published in:

2015

By:

Helgeson, J.;
Wardrop, J.;
Boomer, T.;
Almasri, E.;
Paxton, W. B.;
Saldivar, J. S.;
Dharajiya, N.;
Monroe, T. J.;
Farkas, D. H.;
Grosu, D. S.;
McCullough, R. M.

Publication type:

journal article

Changing trends in carrier screening for genetic disease in the United States.

Published in:

2015

By:

Nazareth, Shivani B.;
Lazarin, Gabriel A.;
Goldberg, James D.

Publication type:

journal article

Global perspectives on clinical adoption of NIPT.

Published in:

2015

By:

Minear, Mollie A.;
Lewis, Celine;
Pradhan, Subarna;
Chandrasekharan, Subhashini

Publication type:

journal article

Validation of a semiconductor next-generation sequencing-based protocol for preimplantation genetic diagnosis of reciprocal translocations.

Published in:

2015

By:

Bono, S.;
Biricik, A.;
Spizzichino, L.;
Nuccitelli, A.;
Minasi, M. G.;
Greco, E.;
Spinella, F.;
Fiorentino, F.

Publication type:

journal article

Prenatal whole-exome sequencing: parental attitudes.

Published in:

2015

By:

Kalynchuk, Eve J.;
Althouse, Andrew;
Parker, Lisa S.;
Saller, Devereux N.;
Rajkovic, Aleksandar;
Saller, Devereux N Jr

Publication type:

journal article

Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.

Published in:

2015

By:

Sachs, Amy;
Blanchard, Leah;
Buchanan, Amanda;
Norwitz, Errol;
Bianchi, Diana W.

Publication type:

Letter

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy.

Published in:

2015

By:

Flowers, Nicola;
Kelley, Joanne;
Sigurjonsson, Styrmir;
Bruno, Damien L.;
Pertile, Mark D.

Publication type:

Case Study

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

Published in:

2015

By:

Oever, Jessica M. E.;
Bijlsma, Emilia K.;
Feenstra, Ilse;
Muntjewerff, Nienke;
Mathijssen, Inge B.;
Bakker, Egbert;
Belzen, Martine J.;
Boon, Elles M. J.

Publication type:

journal article

Expanded carrier screening: too much of a good thing?

Published in:

2015

By:

Rose, Nancy C.

Publication type:

Editorial

Cell-free DNA screening and sex chromosome aneuploidies.

Published in:

2015

By:

Mennuti, Michael T.;
Chandrasekaran, Suchitra;
Khalek, Nahla;
Dugoff, Lorraine

Publication type:

journal article