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Evolution of a prenatal genetic clinic-A 10-year cohort study.
Published in:
2020
By:
- Mone, Fionnuala;
- O'Connor, Clare;
- Hamilton, Susan;
- Quinlan‐Jones, Elizabeth;
- Allen, Stephanie;
- Marton, Tamas;
- Williams, Denise;
- Kilby, Mark D.;
- Quinlan-Jones, Elizabeth
Publication type:
journal article
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Published in:
2019
By:
- Chong, Hsu P.;
- Hamilton, Susan;
- Mone, Fionnuala;
- Cheung, Ka Wang;
- Togneri, Fiona S.;
- Morris, Rachel K.;
- Quinlan‐Jones, Elizabeth;
- Williams, Denise;
- Allen, Stephanie;
- McMullan, Dominic J.;
- Kilby, Mark D.;
- Quinlan-Jones, Elizabeth
Publication type:
journal article
Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing.
Published in:
2017
By:
- Quinlan-Jones, Elizabeth;
- Williams, Denise;
- Bell, Charlotte;
- Miller, Claire;
- Gokhale, Carolyn;
- Kilby, Mark D.
Publication type:
Case Study
'If it helps ...' the use of microarray technology in prenatal testing: Patient and partners reflections.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1619, doi. 10.1002/ajmg.a.35981
By:
- Hillman, Sarah C.;
- Skelton, John;
- Quinlan‐Jones, Elizabeth;
- Wilson, Amie;
- Kilby, Mark D.
Publication type:
Article
The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.
Published in:
Fetal Diagnosis & Therapy, 2021, v. 48, n. 2, p. 112, doi. 10.1159/000512488
By:
- Mone, Fionnuala;
- Stott, Bethany K.;
- Hamilton, Susan;
- Seale, Anna N.;
- Quinlan-Jones, Elizabeth;
- Allen, Stephanie;
- Hurles, Matthew E.;
- McMullan, Dominic J.;
- Maher, Eamonn R.;
- Kilby, Mark D.
Publication type:
Article
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.
Published in:
2020
By:
- Kodabuckus, Shahela S.;
- Quinlan-Jones, Elizabeth;
- McMullan, Dominic J.;
- Maher, Eamonn R.;
- Hurles, Matthew E.;
- Barton, Pelham M.;
- Kilby, Mark D.;
- Kodabuckus, Shahela S;
- McMullan, Dominic J;
- Maher, Eamonn R;
- Hurles, Matthew E;
- Barton, Pelham M;
- Kilby, Mark D
Publication type:
journal article
Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray.
Published in:
Clinical Case Reports, 2020, v. 8, n. 3, p. 508, doi. 10.1002/ccr3.2509
By:
- Drozniewska, Malgorzata;
- Kilby, Mark D.;
- Vogt, Julie;
- Togneri, Fiona;
- Quinlan‐Jones, Elizabeth;
- Reali, Lisa;
- Allen, Stephanie;
- McMullan, Dominic
Publication type:
Article
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder.
Published in:
Clinical Case Reports, 2018, v. 6, n. 1, p. 189, doi. 10.1002/ccr3.1285
By:
- Hodgetts Morton, Victoria;
- Quinlan‐Jones, Elizabeth;
- Butts, Natasha;
- Williams, Denise;
- Hamilton, Sue;
- Marton, Tamas;
- Morris, Katie
Publication type:
Article
Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.
Published in:
2017
By:
- Quinlan‐Jones, Elizabeth;
- Hillman, Sarah C.;
- Kilby, Mark D.;
- Greenfield, Sheila M.
Publication type:
journal article
Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.
Published in:
2016
By:
- Quinlan‐Jones, Elizabeth;
- Kilby, Mark D.;
- Greenfield, Sheila;
- Parker, Michael;
- McMullan, Dominic;
- Hurles, Matthew E.;
- Hillman, Sarah C.
Publication type:
journal article

Found: 10