Publications by authors named "Helen M Stuart"

15Publications

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.

Kidney Int Rep 2020 Oct 14;5(10):1823-1827. Epub 2020 Jul 14.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.ekir.2020.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569699PMC
October 2020

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.

Clin Genet 2019 12 11;96(6):515-520. Epub 2019 Sep 11.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899476PMC
December 2019

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Kidney Int 2019 05 8;95(5):1138-1152. Epub 2019 Mar 8.

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, UK; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1016/j.kint.2018.11.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481288PMC
May 2019

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

Am J Med Genet A 2019 03 9;179(3):404-409. Epub 2019 Jan 9.

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.61032
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http://dx.doi.org/10.1002/ajmg.a.61032DOI Listing
March 2019

Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

Pediatr Nephrol 2019 02 27;34(2):195-210. Epub 2017 Nov 27.

Division of Cell Matrix Biology, Wellcome Trust Centre for Cell-Matrix Research, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s00467-017-3838-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311200PMC
February 2019

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.

Pediatr Nephrol 2015 Sep 5;30(9):1459-65. Epub 2015 Mar 5.

Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, M13 9PT, Manchester, UK,

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http://dx.doi.org/10.1007/s00467-015-3067-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536279PMC
September 2015

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Hum Mol Genet 2014 Aug 1;23(16):4302-14. Epub 2014 Apr 1.

Centre for Genomic Medicine and Centre for Paediatrics and Child Health, Institute of Human Development, Faculty of Medical and Human Sciences,

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http://dx.doi.org/10.1093/hmg/ddu147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103677PMC
August 2014

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

Pediatr Nephrol 2014 Apr 9;29(4):513-8. Epub 2013 Jul 9.

Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Science Centre, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

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http://dx.doi.org/10.1007/s00467-013-2552-2DOI Listing
April 2014

Genetics of human congenital urinary bladder disease.

Pediatr Nephrol 2014 Mar 13;29(3):353-60. Epub 2013 Apr 13.

Centre for Paediatrics Child Health, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

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http://dx.doi.org/10.1007/s00467-013-2472-1DOI Listing
March 2014