Celia Donaghue : rechercher sur Z-Library

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1

QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region

Alison Hills, Celia Donaghue, Jonathan Waters, Katie Waters, Caroline Sullivan, Abhijit Kulkarni, Zoe Docherty, Kathy Mann, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Année:

2010

Langue:

english

Fichier:

PDF, 137 KB

english, 2010

2

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

Melita D. Irving, Karin Buiting, Deniz Kanber, Celia Donaghue, Reiner Schulz, Amaka Offiah, Shehla N. Mohammed, Rebecca J. Oakey

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 177 KB

english, 2010

3

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

Joo Wook Ahn, Caroline Mackie Ogilvie, Alysia Welch, Helen Thomas, Rajiv Madula, Alison Hills, Celia Donaghue, Kathy Mann

Journal:

BMC Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2007

4

MLPA for confirmation of array CGH results and determination of inheritance

Alison Hills, Joo Wook Ahn, Celia Donaghue, Helen Thomas, Kathy Mann, Caroline Mackie Ogilvie

Journal:

Molecular Cytogenetics

Année:

2010

Langue:

english

Fichier:

PDF, 785 KB

english, 2010

5

Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis

Celia Donaghue, Kathy Mann, Zoe Docherty, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 236 KB

english, 2005

6

Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS

Jonathan J. Waters, Kathy Mann, Lee Grimsley, Caroline Mackie Ogilvie, Celia Donaghue, Leonie Staples, Alison Hills, Tracey Adams, Christine Wilson

Journal:

Prenatal Diagnosis

Année:

2007

Langue:

english

Fichier:

PDF, 152 KB

english, 2007

7

Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing

Kathy Mann, Mariama Kabba, Celia Donaghue, Alison Hills, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Année:

2007

Langue:

english

Fichier:

PDF, 114 KB

english, 2007

8

Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis

Celia Donaghue, Kathy Mann, Zoe Docherty, Roberto Mazzaschi, Claudine Fear, Caroline Ogilvie

Journal:

Prenatal Diagnosis

Année:

2010

Langue:

english

Fichier:

PDF, 129 KB

english, 2010

9

Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance

Celia Donaghue, Angharad Roberts, Kathy Mann, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Année:

2003

Langue:

english

Fichier:

PDF, 238 KB

english, 2003

10

In vivo somatic microsatellite mutations identified in non-malignant human tissue

Kathy Mann, Celia Donaghue, CarolineMackie Ogilvie

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 378 KB

english, 2003

11

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy

Mann, Kathy, Donaghue, Celia, Fox, Susan P, Docherty, Zoe, Ogilvie, Caroline Mackie

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 196 KB

english, 2004

12

Identification and characterisation of the Drosophila homologue of the yeast Uba2 gene

Celia Donaghue, Helen Bates, Sue Cotterill

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Année:

2001

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2001

13

Quantitative fluorescence PCR analysis of >40 000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X

Mann, Kathy, Hills, Alison, Donaghue, Celia, Thomas, Helen, Ogilvie, Caroline Mackie

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 334 KB

english, 2012

14

Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

Celia Donaghue,Nada Davies,Joo Wook Ahn,Helen Thomas…

Journal:

Molecular Cytogenetics

Année:

2017

Langue:

english

Fichier:

PDF, 911 KB

english, 2017