Judith A Goodship
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Explore the profile of Judith A Goodship including associated specialties, affiliations and a list of published articles.
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57
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3112
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Recent Articles
11.
Stuart H, Roberts N, Hilton E, Mckenzie E, Daly S, Hadfield K, et al.
J Am Soc Nephrol
. 2014 Aug;
26(4):797-804.
PMID: 25145936
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge...
12.
Topf A, Griffin H, Glen E, Soemedi R, Brown D, Hall D, et al.
PLoS One
. 2014 Aug;
9(8):e95453.
PMID: 25093829
Objective: Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of...
13.
Towers R, Murgiano L, Millar D, Glen E, Topf A, Jagannathan V, et al.
PLoS One
. 2013 Dec;
8(12):e81625.
PMID: 24324710
Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions...
14.
Mamasoula C, Prentice R, Pierscionek T, Pangilinan F, Mills J, Druschel C, et al.
Circ Cardiovasc Genet
. 2013 Jul;
6(4):347-53.
PMID: 23876493
Background: Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious. Methods And Results: We compared genotypes between CHD cases and...
15.
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy
Wilson V, Darlay R, Wong W, Wood K, McFarlane J, Schejbel L, et al.
Am J Kidney Dis
. 2013 Jul;
62(5):978-83.
PMID: 23870792
We report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H...
16.
Cordell H, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, et al.
Nat Genet
. 2013 May;
45(7):822-4.
PMID: 23708191
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of...
17.
Holmes L, Strain L, Staniforth S, Moore I, Marchbank K, Kavanagh D, et al.
PLoS One
. 2013 Apr;
8(4):e60352.
PMID: 23613724
In this study we have used multiplex ligation-dependent probe amplification (MLPA) to measure the copy number of CFHR3 and CFHR1 in DNA samples from 238 individuals from the UK and...
18.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
Cordell H, Topf A, Mamasoula C, Postma A, Bentham J, Zelenika D, et al.
Hum Mol Genet
. 2013 Jan;
22(7):1473-81.
PMID: 23297363
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A...
19.
Twigg S, Lloyd D, Jenkins D, Elcioglu N, Cooper C, Al-Sannaa N, et al.
Am J Hum Genet
. 2012 Oct;
91(5):897-905.
PMID: 23063620
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical...
20.
Caparros-Martin J, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, et al.
Hum Mol Genet
. 2012 Oct;
22(1):124-39.
PMID: 23026747
Hedgehog (Hh) signaling is involved in patterning and morphogenesis of most organs in the developing mammalian embryo. Despite many advances in understanding core components of the pathway, little is known...