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K Fagan
Observed names:
K FAGAN,
K. Fagan,
Kelly Fagan
Institutions:
University of California, San Francisco,
UCSF Benioff Children's Hospital
Observed institutions:
University of California, San Francisco,
John Hunter Hospital,
Hunter Genetics,
Sydney Children's Hospital,
UCSF Benioff Children's Hospital
OpenAlex ID:
A5113360876
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.
1997
·
M W Partington
, K Fagan
, et al.
·
Journal of Medical Genetics
·
66
PDF
"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?
1994
·
A Lipson
, B Emanuel
, et al.
·
Journal of Medical Genetics
·
27
PDF
Ring chromosome 11 and café‐au‐lait spots
1988
·
K. Fagan
, G. K. Suthers
, et al.
·
American Journal of Medical Genetics
·
25
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
1997
·
S Worthington
, A Colley
, et al.
·
Journal of Medical Genetics
·
24
PDF
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.
2007
·
N M C Maas
, S Van Vooren
, et al.
·
PubMed
·
22
A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.
1989
·
K Fagan
, A Gill
, et al.
·
Journal of Medical Genetics
·
22
PDF
Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.
1990
·
G C Webb
, R T Baker
, et al.
·
Europe PMC (PubMed Central)
·
19
A new interstitial deletion of 4q (q21.1::q22.1).
1989
·
K Fagan
, A Gill
·
Journal of Medical Genetics
·
12
PDF
An interstitial deletion of chromosome 7(q35).
1994
·
K Fagan
, C Kennedy
, et al.
·
Journal of Medical Genetics
·
10
PDF
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
2024
·
Maria Carla Borroto
, Coralie Michaud
, et al.
·
Genes
·
9
PDF
Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families
2000
·
K FAGAN
, V SOUBJAKI
, et al.
·
Journal of Medical Genetics
·
3
PDF
Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories
2016
·
D.C. Wright
, N. Adayapalam
, et al.
·
Pathology
4p16 olfactory receptor gene cluster is a promiscuous hotspot for chromosomal rearrangements
2007
·
Joris Vermeesch
, Nmc Maas
, et al.
De novo translocation of chromosomes 14 and 18, resulting in an 18q deletion phenotype
1983
·
A. Manuel
, G. Cohen
, et al.
·
Pathology
Complete deletion of heterochromatin of the y chromosome in an azoospermic male
1983
·
A. Manuel
, G. Cohen
, et al.
·
Pathology
Chemically induced heritable translocations in the mouse
1980
·
I.-D. Adler
, G. Fekete
, et al.
·
Mutation Research/Environmental Mutagenesis and Related Subjects
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Works count:
16
Citation count:
239
H-index:
9
I10-index:
9
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