Mackie Ogilvie, Caroline: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

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

Year:

2010

Language:

english

File:

PDF, 137 KB

english, 2010

2

Preimplantation genetic diagnosis

Braude, Peter, Pickering, Susan, Flinter, Frances, Ogilvie, Caroline Mackie

Journal:

Nature Reviews Genetics

Year:

2002

Language:

english

File:

PDF, 1.40 MB

english, 2002

3

FISH for Pre-implantation Genetic Diagnosis

Scriven, Paul N., Kirby, Toby L., Ogilvie, Caroline Mackie

Journal:

Journal of Visualized Experiments

Year:

2011

Language:

english

File:

PDF, 251 KB

english, 2011

4

Clinical expression of Menkes disease in a girl with X;13 translocation

Abusaad, Iman, Mohammed, Shehla N., Ogilvie, Caroline Mackie, Ritchie, Jane, Pohl, Keith R.E., Docherty, Zoe

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1013 KB

english, 1999

5

Chromosome 22q11 deletions are not found in autistic patients identified using strict diagnostic criteria

Ogilvie, Caroline Mackie, Moore, Janette, Daker, Michael, Palferman, Sarah, Docherty, Zoe

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 43 KB

english, 2000

6

Detection of submicroscopic subtelomeric chromosome translocations: A new case study

Warburton, Pamela, Mohammed, Shehla, Ogilvie, Caroline Mackie

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.95 MB

english, 2000

7

Characterization of terminal chromosome anomalies using multisubtelomere FISH

Angela F. Davies, Toby L. Kirby, Zoe Docherty, Caroline Mackie Ogilvie

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 127 KB

english, 2003

8

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases

Melita Irving, Helen Hanson, Peter Turnpenny, Carole Brewer, Caroline Mackie Ogilvie, Angela Davies, Jonathan Berg

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 234 KB

english, 2003

9

A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype

Julian Barwell, Roberto Mazzaschi, Sue Bint, Caroline Mackie Ogilvie, Frances Elmslie

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 122 KB

english, 2004

10

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities

Mary J. Seller, Susan Bint, Fred Kavalier, Richard N. Brown, Caroline Mackie Ogilvie

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 242 KB

english, 2006

11

Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay

Angela F. Davies, Caroline Mackie Ogilvie

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

12

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

Year:

2007

Language:

english

File:

PDF, 1.01 MB

english, 2007

13

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

Thomas Liehr, Kristin Mrasek, Nadezda Kosyakova, Caroline Mackie Ogilvie, Joris Vermeesch, Vladimir Trifonov, Nikolai Rubtsov

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 666 KB

english, 2008

14

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Joo Wook Ahn, Kathy Mann, Zoe Docherty, Caroline Mackie Ogilvie

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 163 KB

english, 2008

15

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

Caroline Mackie Ogilvie, Joo Wook Ahn, Kathy Mann, Roland G Roberts, Frances Flinter

Journal:

Molecular Cytogenetics

Year:

2009

Language:

english

File:

PDF, 476 KB

english, 2009

16

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

Year:

2010

Language:

english

File:

PDF, 785 KB

english, 2010

17

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

Joo Wook Ahn, Kathy Mann, Sally Walsh, Marwa Shehab, Sarah Hoang, Zoe Docherty, Shehla Mohammed, Caroline Mackie Ogilvie

Journal:

Molecular Cytogenetics

Year:

2010

Language:

english

File:

PDF, 1003 KB

english, 2010

18

Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping

Taita Stojilkovic-Mikic, Kathy Mann, Zoe Docherty, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

19

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

Year:

2005

Language:

english

File:

PDF, 236 KB

english, 2005

20

Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification

Pamela J. Renwick, Cathryn M. Lewis, Stephen Abbs, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 1.76 MB

english, 2007

21

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

Year:

2007

Language:

english

File:

PDF, 152 KB

english, 2007

22

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

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

23

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

Year:

2003

Language:

english

File:

PDF, 238 KB

english, 2003

24

Preimplantation genetic diagnosis (PGD) for reciprocal translocations

Caroline Mackie Ogilvie, Paul N. Scriven

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

25

Deletion of chromosome 3q proximal region gives rise to a variable phenotype

Caroline Mackie Ogilvie, Susan C Rooney, Shirley V Hodgson, A Caroline Berry

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 791 KB

english, 1998

26

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

Caroline Mackie Ogilvie, Alison Lashwood, Lyn Chitty, Jonathan J. Waters, Paul N. Scriven, Frances Flinter

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

27

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion

Flomen, Rachel H, Davies, Angela F, Di Forti, Marta, Cascia, Caterina La, Mackie-Ogilvie, Caroline, Murray, Robin, Makoff, Andrew J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 366 KB

english, 2008

28

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart

Gill, Harinder K, Parsons, Sian R, Spalluto, Cosma, Davies, Angela F, Knorz, Victoria J, Burlinson, Clare EG, Ng, Bee Ling, Carter, Nigel P, Ogilvie, Caroline Mackie, Wilson, David I

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 565 KB

english, 2009

29

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

Frost, Amy R, Böhm, Sabrina V, Sewduth, Raj N, Josifova, Dragana, Ogilvie, Caroline Mackie, Izatt, Louise, Roberts, Roland G

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 252 KB

english, 2010

30

Preimplantation genetic diagnosis

Braude, Peter, Pickering, Susan, Flinter, Frances, Ogilvie, Caroline Mackie

Journal:

Nature Reviews Genetics

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003

31

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region

Male, Alison, Davies, Angela, Bergbaum, Anne, Keeling, Jean, FitzPatrick, David, Ogilvie, Caroline Mackie, Berg, Jonathan

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 208 KB

english, 2002

32

Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos

Ogilvie, Caroline Mackie, Scriven, Paul N

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 141 KB

english, 2002

33

Class II neocentromeres: a putative common neocentromere site in band 4q21.2

Warburton, Pamela C, Barwell, Julian, Splitt, Miranda, Maxwell, Darryl, Bint, Susan, Ogilvie, Caroline Mackie

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

34

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

Year:

2004

Language:

english

File:

PDF, 196 KB

english, 2004

35

Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

Willatt, Lionel R, Barber, John C K, Clarkson, Amanda, Simonic, Ingrid, Raymond, F Lucy, Docherty, Zoe, Ogilvie, Caroline Mackie

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 155 KB

english, 2006

36

Chromosomal Mosaicism in Cleavage-Stage Human Embryos and the Accuracy of Single-Cell Genetic Analysis

Hung-Chih Kuo, Caroline Mackie Ogilvie, Alan H. Handyside

Journal:

Journal of Assisted Reproduction and Genetics

Year:

1998

Language:

english

File:

PDF, 512 KB

english, 1998

37

Preimplantation testing for chromosome aneuploidy

Caroline Mackie Ogilvie

Journal:

The Obstetrician & Gynaecologist

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

38

QF-PCR: application, overview and review of the literature

Kathy Mann, Caroline Mackie Ogilvie

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 241 KB

english, 2012

39

Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform

Sarah Hoang, JooWook Ahn, Kathy Mann, Sue Bint, Sahar Mansour, Tessa Homfray, Shehla Mohammed, Caroline Mackie Ogilvie

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

40

Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

Elizabeth C. Galizia, Maithili Srikantha, Rodger Palmer, Jonathan J. Waters, Nicholas Lench, Caroline Mackie Ogilvie, Dalia Kasperavičiūtė, Lina Nashef, Sanjay M. Sisodiya

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 269 KB

english, 2012

41

Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring

Caroline Mackie Ogilvie, Sally Watson, Peter Braude, Susan Pickering, Paul N. Scriven

Journal:

Fertility and Sterility

Year:

2010

Language:

english

File:

PDF, 534 KB

english, 2010

42

Velopharyngeal incompetence and chromosome 22q11 deletion

John G Boorman, Sanjay Varma, Caroline Mackie Ogilvie

Journal:

Year:

2001

Language:

english

File:

PDF, 48 KB

english, 2001

43

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

Kathy Mann, Susan P Fox, Stephen J Abbs, Shu Ching Yau, Paul N Scriven, Zoe Docherty, Caroline Mackie Ogilvie

Journal:

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

44

Prenatal detection of chromosome disorders

Kathy Mann, Caroline Mackie Ogilvie

Journal:

Year:

2001

Language:

english

File:

PDF, 45 KB

english, 2001

45

Laboratory diagnosis

Caroline Mackie Ogilvie

Journal:

Year:

2003

Language:

english

File:

PDF, 43 KB

english, 2003

46

Preimplantation genetic diagnosis

Caroline Mackie Ogilvie

Journal:

Year:

2003

Language:

english

File:

PDF, 45 KB

english, 2003

47

Prenatal diagnosis

Caroline Mackie Ogilvie, Frances Flinter

Journal:

Year:

2005

Language:

english

File:

PDF, 49 KB

english, 2005

48

Prenatal diagnosis for chromosome abnormalities: past, present and future

Caroline Mackie Ogilvie

Journal:

Pathologie Biologie

Year:

2003

File:

PDF, 62 KB

2003

49

Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues

Renwick, Pamela, Ogilvie, Caroline Mackie

Journal:

Expert Review of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 943 KB

english, 2007

50

Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells

Pamela Renwick, Jane Trussler, Alison Lashwood, Peter Braude, Caroline Mackie Ogilvie

Journal:

Reproductive BioMedicine Online

Year:

2010

Language:

english

File:

PDF, 395 KB

english, 2010