Publications by authors named "John A Sayer"

100Publications

Regarding "Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis".

Kidney Int 2020 11;98(5):1347

Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.kint.2020.08.016DOI Listing
November 2020

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

Electrolyte Disturbances in SARS-CoV-2 Infection.

F1000Res 2020 10;9:587. Epub 2020 Jun 10.

Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newacstle upon Tyne, Tyne and Wear, NE77DN, UK.

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http://dx.doi.org/10.12688/f1000research.24441.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533733.2PMC
October 2020

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

BMC Nephrol 2020 Oct 15;21(1):435. Epub 2020 Oct 15.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1186/s12882-020-02094-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559414PMC
October 2020

RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Pediatr Neurol 2020 11 24;112:10. Epub 2020 Jul 24.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; NHS Foundation Trust, Newcastle upon Tyne Hospitals, Renal Services, Newcastle upon Tyne, UK; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.07.010DOI Listing
November 2020

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Genes (Basel) 2020 Aug 20;11(9). Epub 2020 Aug 20.

Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.3390/genes11090967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565137PMC
August 2020

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.

BMC Nephrol 2020 Aug 14;21(1):347. Epub 2020 Aug 14.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1186/s12882-020-02013-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429752PMC
August 2020

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

J Nephrol 2020 Jul 8. Epub 2020 Jul 8.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s40620-020-00795-0DOI Listing
July 2020

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

Kidney Int 2020 08 23;98(2):476-487. Epub 2020 Mar 23.

Department of Nephrology, Hemodialysis and Renal Transplantation, University Hospital, Brest, France; Univ Brest, F-29200 Brest, France; National Institute for Research in Health Science (INSERM) UMR 1078, "Genetics, Genomics and Biotechnologies," Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2020.02.022DOI Listing
August 2020

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.

Clin J Am Soc Nephrol 2020 Jun 5;15(6):855-872. Epub 2020 Mar 5.

Faculty of Medical Sciences, Translational and Clinical Research Institute, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom

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http://dx.doi.org/10.2215/CJN.08890719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274277PMC
June 2020

SGLT2 inhibitors - a potential treatment for Alport syndrome.

Clin Sci (Lond) 2020 02;134(4):379-388

Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, U.K.

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http://dx.doi.org/10.1042/CS20191276DOI Listing
February 2020

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.

Int J Mol Sci 2020 Jan 6;21(1). Epub 2020 Jan 6.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.3390/ijms21010369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981752PMC
January 2020

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Proc Natl Acad Sci U S A 2020 01 26;117(2):1113-1118. Epub 2019 Dec 26.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1912602117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969532PMC
January 2020

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Kidney Int Rep 2019 Dec 30;4(12):1751-1759. Epub 2019 Aug 30.

Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, Tyne and Wear, UK.

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http://dx.doi.org/10.1016/j.ekir.2019.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895654PMC
December 2019

ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.

Small GTPases 2019 Dec 18:1-10. Epub 2019 Dec 18.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1080/21541248.2019.1703466DOI Listing
December 2019

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

F1000Res 2019 15;8:666. Epub 2019 May 15.

Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.

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http://dx.doi.org/10.12688/f1000research.19006.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694456PMC
June 2020

The Molecular Genetics of Gordon Syndrome.

Genes (Basel) 2019 11 29;10(12). Epub 2019 Nov 29.

Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK.

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http://dx.doi.org/10.3390/genes10120986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947027PMC
November 2019

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Invest Ophthalmol Vis Sci 2019 11;60(14):4811-4819

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.19-27263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944245PMC
November 2019

The challenges of diagnosis and management of Gitelman syndrome.

Clin Endocrinol (Oxf) 2020 01 6;92(1):3-10. Epub 2019 Oct 6.

Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/cen.14104DOI Listing
January 2020

Renal ciliopathies.

Curr Opin Genet Dev 2019 06 13;56:49-60. Epub 2019 Aug 13.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, NE4 5PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2019.07.005DOI Listing
June 2019

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.

Sci Rep 2019 07 25;9(1):10828. Epub 2019 Jul 25.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom.

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http://dx.doi.org/10.1038/s41598-019-47243-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658666PMC
July 2019

Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.

Kidney Blood Press Res 2019 9;44(4):870-877. Epub 2019 Jul 9.

Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

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http://dx.doi.org/10.1159/000500922DOI Listing
January 2020

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Pediatr Nephrol 2019 09 11;34(9):1615-1623. Epub 2019 May 11.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00467-019-04267-xDOI Listing
September 2019

A case of ocular cystinosis associated with two potentially severe CTNS mutations.

Ophthalmic Genet 2019 04 6;40(2):157-160. Epub 2019 Apr 6.

b Institute of Genetic Medicine, International Centre for Life, Newcastle University , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.1080/13816810.2019.1592198DOI Listing
April 2019

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.

Urolithiasis 2019 Dec 23;47(6):511-519. Epub 2019 Feb 23.

Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Liebigstr. 20, 04103, Leipzig, Germany.

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http://dx.doi.org/10.1007/s00240-019-01116-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825645PMC
December 2019

CYP24A1 mutations and hypervitaminosis D.

Clin Med (Lond) 2019 01;19(1):92-93

Newcastle University, Newcastle upon Tyne, UK.

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http://www.clinmed.rcpjournal.org/lookup/doi/10.7861/clinmed
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http://dx.doi.org/10.7861/clinmedicine.19-1-92aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399622PMC
January 2019

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.

F1000Res 2018 25;7:1133. Epub 2018 Jul 25.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.12688/f1000research.15511.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127739PMC
September 2019

Precision medicine in renal stone-formers.

Urolithiasis 2019 Feb 20;47(1):99-105. Epub 2018 Nov 20.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00240-018-1091-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373186PMC
February 2019

Targeted exon skipping of a mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Proc Natl Acad Sci U S A 2018 12 16;115(49):12489-12494. Epub 2018 Nov 16.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1809432115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298104PMC
December 2018

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Am J Hum Genet 2018 10 27;103(4):612-620. Epub 2018 Sep 27.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286PMC
October 2018

Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

F1000Res 2018 22;7:356. Epub 2018 Mar 22.

Renal Services, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, Tyne and Wear , NE7 7DN, UK.

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http://dx.doi.org/10.12688/f1000research.13708.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930549PMC
March 2018

Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan.

Clin Kidney J 2018 Feb 27;11(1):62-69. Epub 2017 Jul 27.

Newcastle University, Institute of Genetic Medicine, Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1093/ckj/sfx071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798152PMC
February 2018

Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.

Front Pediatr 2017 5;5:287. Epub 2018 Jan 5.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.3389/fped.2017.00287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770800PMC
January 2018

Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Case Rep Nephrol 2017 18;2017:4653267. Epub 2017 Oct 18.

Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1155/2017/4653267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664188PMC
October 2017

Editorial Comment.

J Urol 2018 03 21;199(3):632. Epub 2017 Nov 21.

Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

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http://dx.doi.org/10.1016/j.juro.2017.09.155DOI Listing
March 2018

Urolithiasis as an extraarticular manifestation of ankylosing spondylitis.

Rheumatol Int 2017 Dec 18;37(12):1949-1956. Epub 2017 Aug 18.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s00296-017-3788-0DOI Listing
December 2017

Kidney Disease in Oman: a View of the Current and Future Landscapes.

Iran J Kidney Dis 2017 Jul;11(4):263-270

The Renal Medicine Department, Royal Hospital, Muscat, Oman.

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July 2017

From disease modelling to personalised therapy in patients with mutations.

F1000Res 2017 12;6:669. Epub 2017 May 12.

Institute of Genetic Medicine, Newcastle University, Newcastle, NE1 3BZ, UK.

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https://f1000research.com/articles/6-669/v1
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http://dx.doi.org/10.12688/f1000research.11553.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482330PMC
May 2017

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases.

Int J Nephrol 2017 8;2017:6403985. Epub 2017 Jun 8.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1155/2017/6403985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480059PMC
June 2017

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

F1000Res 2017 12;6:470. Epub 2017 Apr 12.

Renal Services, Newcastle upon Tyne NHS Foundation Trust, Newcastle, NE77DN, UK.

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http://dx.doi.org/10.12688/f1000research.11316.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443337PMC
April 2017

Tenofovir disoproxil fumarate-associated renal tubular dysfunction: noninvasive assessment of mitochondrial injury.

AIDS 2017 06;31(9):1297-1301

aWellcome Trust Centre for Mitochondrial Research bInstitute of Genetic Medicine, Newcastle University cDepartment of Infection and Tropical Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1097/QAD.0000000000001466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427982PMC
June 2017

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.

Clin Kidney J 2016 Dec 1;9(6):807-810. Epub 2016 Jul 1.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle, UK.

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http://dx.doi.org/10.1093/ckj/sfw057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162405PMC
December 2016

Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

Authors:
John A Sayer

J Am Soc Nephrol 2017 Mar 8;28(3):748-759. Epub 2016 Dec 8.

Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle, United Kingdom

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http://www.jasn.org/lookup/doi/10.1681/ASN.2016050576
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http://dx.doi.org/10.1681/ASN.2016050576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328168PMC
March 2017

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome.

F1000Res 2016 12;5:875. Epub 2016 May 12.

Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.12688/f1000research.8732.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897758PMC
June 2016

Mutations in SLC26A1 Cause Nephrolithiasis.

Am J Hum Genet 2016 06 19;98(6):1228-1234. Epub 2016 May 19.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908148PMC
June 2016

Yersinia pseudotuberculosis aortitis in a patient with diverticulosis and polycystic kidney disease.

Oxf Med Case Reports 2015 Apr 21;2015(4):269-71. Epub 2015 Apr 21.

Renal Unit , Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK ; Institute of Genetic Medicine , Newcastle University , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.1093/omcr/omv032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664852PMC
April 2015

Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole.

Clin Kidney J 2015 Aug 25;8(4):453-5. Epub 2015 May 25.

Institute of Genetic Medicine , Newcastle University , Newcastle , UK ; Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle , UK.

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http://dx.doi.org/10.1093/ckj/sfv028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515887PMC
August 2015

Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis.

Authors:
John A Sayer

Eur Urol 2015 Jul;68(1):164-5

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle NE1 3BZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.eururo.2015.03.056DOI Listing
July 2015

Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation.

Oxf Med Case Reports 2014 Aug 1;2014(5):86-8. Epub 2014 Aug 1.

Department of Renal Medicine , Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle NE7 7DN , UK ; Institute of Genetic Medicine, Newcastle University , Central Parkway, Newcastle NE1 3BZ , UK.

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http://dx.doi.org/10.1093/omcr/omu033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360297PMC
August 2014

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Clin J Am Soc Nephrol 2015 Jul 11;10(7):1235-45. Epub 2015 May 11.

Academic and Children's Renal Unit, School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;

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http://dx.doi.org/10.2215/CJN.10981114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491297PMC
July 2015

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Clin Kidney J 2015 Feb 5;8(1):113-9. Epub 2014 Dec 5.

Institute of Genetic Medicine , International Centre for Life, Newcastle University , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.1093/ckj/sfu129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310431PMC
February 2015

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Clin Kidney J 2014 Apr 18;7(2):197-200. Epub 2013 Dec 18.

Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK ; Institute of Genetic Medicine , Newcastle University, International Centre for Life , Newcastle upon Tyne , UK.

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https://academic.oup.com/ckj/article-lookup/doi/10.1093/ckj/
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http://dx.doi.org/10.1093/ckj/sft144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970340PMC
April 2014

Nephronophthisis.

J Pediatr Genet 2014 Jun;3(2):103-14

Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.3233/PGE-14086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020989PMC
June 2014

CYP24A1 mutation leading to nephrocalcinosis.

Kidney Int 2014 Jun;85(6):1475

1] Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK [2] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538155635
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http://dx.doi.org/10.1038/ki.2013.416DOI Listing
June 2014

The challenges and surprises of a definitive molecular genetic diagnosis.

Kidney Int 2014 Apr;85(4):748-9

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ki.2013.432DOI Listing
April 2014

Functional modelling of a novel mutation in BBS5.

Cilia 2014 Feb 21;3(1). Epub 2014 Feb 21.

International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, UK.

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http://dx.doi.org/10.1186/2046-2530-3-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931281PMC
February 2014

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.

Physiol Rep 2013 Nov 19;1(6):e00160. Epub 2013 Nov 19.

Institute of Genetic Medicine, Newcastle University Central Parkway, Newcastle upon Tyne, NE1 3BZ, U.K. ; Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne, NE7 7DN, U.K.

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http://dx.doi.org/10.1002/phy2.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3871474PMC
November 2013

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.

BMC Res Notes 2013 Dec 10;6:527. Epub 2013 Dec 10.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1186/1756-0500-6-527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867415PMC
December 2013

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Clin Kidney J 2013 Aug 23;6(4):410-3. Epub 2013 Jun 23.

Renal Unit, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle Upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1093/ckj/sft058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898336PMC
August 2013

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.

PLoS One 2012 24;7(9):e44975. Epub 2012 Sep 24.

Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0044975PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454386PMC
March 2013

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

ANKH and renal stone formation in ankylosing spondylitis.

J Rheumatol 2012 Aug;39(8):1756; author reply 1757

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http://dx.doi.org/10.3899/jrheum.120161DOI Listing
August 2012

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.

NDT Plus 2011 Dec 18;4(6):421-3. Epub 2011 Aug 18.

Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1093/ndtplus/sfr096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421651PMC
December 2011

A meckelin-filamin A interaction mediates ciliogenesis.

Hum Mol Genet 2012 Mar 25;21(6):1272-86. Epub 2011 Nov 25.

Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/hmg/ddr557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284117PMC
March 2012

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.

Cell Mol Life Sci 2012 Mar 29;69(6):993-1009. Epub 2011 Sep 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00018-011-0826-zDOI Listing
March 2012

Nephronophthisis: a genetically diverse ciliopathy.

Int J Nephrol 2011 15;2011:527137. Epub 2011 May 15.

Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.4061/2011/527137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108105PMC
July 2011