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Alice M. George
Observed names:
A George,
A. George,
A. M. George,
A.M. George,
ALICE M. GEORGE,
Alice George
show all 6
Institution:
Auckland City Hospital
Observed institutions:
University of Auckland,
Auckland City Hospital,
University of Oxford,
Auckland District Health Board,
Starship Children's Health
OpenAlex ID:
A5110018048
Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound
2003
·
Art Daniel
, Neil Athayde
, et al.
·
Australian and New Zealand Journal of Obstetrics and Gynaecology
·
101
PDF
False‐positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells
2003
·
Alice M. George
, Paul Oei
, et al.
·
Prenatal Diagnosis
·
76
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
2012
·
Elise Boudry-Labis
, Bénédicte Demeer
, et al.
·
European Journal of Medical Genetics
·
74
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
2012
·
Richard H. Roxburgh
, Renate Marquis-Nicholson
, et al.
·
Journal of Neurology
·
44
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients
2016
·
Adrian Mc Cormack
, Karen Claxton
, et al.
·
Molecular Cytogenetics
·
39
PDF
Case Report Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal
2010
·
F. Ashton
, R. O�Connor
, et al.
·
Genetics and Molecular Research
·
36
PDF
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum
2011
·
A.M. George
, D.R. Love
, et al.
·
Molecular Syndromology
·
32
PDF
Microduplication of 3p26.3 Implicated in Cognitive Development
2014
·
Leah Te Weehi
, Raj Maikoo
, et al.
·
Case Reports in Genetics
·
24
PDF
Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay
2012
·
Amel Al-Murrani
, Fern Ashton
, et al.
·
Case Reports in Genetics
·
19
PDF
A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
2014
·
Roberto L. P. Mazzaschi
, Juliet Taylor
, et al.
·
Case Reports in Genetics
·
16
PDF
12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
2015
·
Adrian Mc Cormack
, Cynthia Sharpe
, et al.
·
Case Reports in Genetics
·
15
PDF
The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing
2015
·
Lisa Duffy
, Liangtao Zhang
, et al.
·
Journal of Clinical Medicine Research
·
13
PDF
A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
2014
·
Adrian Mc Cormack
, Juliet Taylor
, et al.
·
Case Reports in Genetics
·
13
PDF
Karyotypes of the East African common zebra, Equus burchelli: centric fission in a pedigree
2008
·
D.B. Whitehouse
, E.P. Evans
, et al.
·
Cytogenetics and Cell Genetics
·
12
Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes
2013
·
Adrian Mc Cormack
, Juliet Taylor
, et al.
·
Case Reports in Genetics
·
11
PDF
Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
2011
·
Rachel O'Connor
, Amel Al-Murrani
, et al.
·
Case Reports in Genetics
·
10
PDF
Interstitial deletion of 10q23.1 and confirmation of three 10qdel syndromes.
2011
·
S Singh
, S Aftimos
, et al.
·
PubMed
·
9
Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of the Entire KCNJ2 Gene as a Cause of Sudden Cardiac Death
2014
·
Renate Marquis-Nicholson
, Debra O. Prosser
, et al.
·
Circulation Cardiovascular Genetics
·
8
Bacterial artificial chromosomes (BACs)-on-Beads™ as a diagnostic platform for the rapid aneuploidy screening of products of conception
2013
·
KAREN L. SHEATH
, LISA DUFFY
, et al.
·
Molecular Medicine Reports
·
7
PDF
Chromosome microarray analysis in a clinical environment: new perspective and new challenge
2011
·
A. George
, R. Marquis-Nicholson
, et al.
·
British Journal of Biomedical Science
·
7
Prenatal diagnosis of partial tetrasomy 14: a case study
2002
·
Alice M. George
, Lavinia Hallam
, et al.
·
Prenatal Diagnosis
·
7
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
2015
·
Sarah Nickerson
, Renate Marquis-Nicholson
, et al.
·
Microarrays
·
6
PDF
Array-Based Identification of Copy Number Changes in a Diagnostic Setting : Simultaneous Gene - Focused and Low Resolution Whole Human Genome Analysis
2013
·
Renate Marquis Nicholson
, Elaine Doherty
, et al.
·
Sultan Qaboos University medical journal
·
5
PDF
Inheritance of a Ring Chromosome 21 in a Couple UndergoingIn VitroFertilization (IVF): A Case Report
2011
·
Roberto L. P. Mazzaschi
, Donald R. Love
, et al.
·
Case Reports in Genetics
·
5
PDF
Clinical Outcomes and Counselling Issues Regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay
2013
·
Karen L. Sheath
, Roberto L. Mazzaschi
, et al.
·
Sultan Qaboos University medical journal
·
4
PDF
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Works count:
41
Citation count:
615
H-index:
13
I10-index:
16
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