Nadia Schoenmakers

Nadia Schoenmakers

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Nadia Schoenmakers

Nadia Schoenmakers

Publications by authors named "Nadia Schoenmakers"

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A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.

Clin Endocrinol (Oxf) 2018 12 1;89(6):813-823. Epub 2018 Oct 1.

Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, University of Cambridge Metabolic Research Laboratories, Cambridge, UK.

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http://doi.wiley.com/10.1111/cen.13827
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http://dx.doi.org/10.1111/cen.13827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282842PMC
December 2018

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism.

Eur Thyroid J 2018 Oct 19;7(5):225-237. Epub 2018 Jul 19.

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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https://www.karger.com/Article/FullText/491388
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http://dx.doi.org/10.1159/000491388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198777PMC
October 2018

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.

J Clin Endocrinol Metab 2017 09;102(9):3085-3090

University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2017-00529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587079PMC
September 2017

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

Endocrinol Diabetes Metab Case Rep 2017 7;2017. Epub 2017 Jun 7.

University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, CambridgeUK.

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http://dx.doi.org/10.1530/EDM-17-0040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467655PMC
June 2017

Semantic prioritization of novel causative genomic variants.

PLoS Comput Biol 2017 04 17;13(4):e1005500. Epub 2017 Apr 17.

King Abdullah University of Science and Technology, Computer, Electrical & Mathematical Sciences and Engineering Division, Computational Bioscience Research Center, Thuwal, Saudi Arabia.

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http://dx.doi.org/10.1371/journal.pcbi.1005500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411092PMC
April 2017

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

J Clin Endocrinol Metab 2016 12 15;101(12):4521-4531. Epub 2016 Aug 15.

University of Cambridge Metabolic Research Laboratories (A.K.N., E.S., G.L., V.K.K.C., N.S.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom; Department of Human Genetics (E.G.S., C.A.A.), The Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; Research Centre for Regenerative and Restorative Medicine (H.C.), Department of Medical Genetics Istanbul Medipol University, Kavacık, Istanbul, Turkey; Pediatric Endocrine Unit (S.A., I.U.), Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman; Paediatric Endocrinology Department (A.D.), Mafraq Hospital, AbuDhabi, United Arab Emirates; Pediatric Department Prince Mohamed Bin Abdulaziz Hospital (A.M.H.), Madinah, Kingdom of Saudi Arabia; Department of Paediatrics (M.A.), Madina Maternity & Children's Hospital Madina Munawara, Saudi Arabia; 8. Department of Endocrinology (C.P.), Great Ormond St Hospital for Children, London, United Kingdom; Department of Paediatrics (N.N.), Luton and Dunstable University Hospital, Luton, United Kingdom; Division of Paediatric Endocrinology (Z.A.), Dr Sami Ulus Woman Health and Children Research Hospital Ankara, Turkey; Department of Paediatric Endocrinology (H.S.), Uludağ University, School of Medicine Bursa, Turkey; Department of Paediatric Endocrinology (E.B.), Dokuz Eylül University, Faculty of Medicine Izmir, Turkey; Developmental Endocrinology Research Group (M.D.), Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, United Kingdom; Department of Paediatrics (S.S.), Leicester Royal infirmary, Leicester United Kingdom; Centre for Paediatrics and Child Health (P.G.M.), Institute of Human Development University of Manchester, and Royal Manchester Children's Hospital, Manchester, United Kingdom; Paediatric Endocrinology Division (A.B.), College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia; Department of Paediatrics (R.W., A.T.), University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; W Midlands Regional Genetics Laboratory (R.I.), Birmingham Women's Hospital NHS Foundation Trust, Birmingham, United Kingdom; Department of Paediatric Endocrinology (R.P.), Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Department of Paediatrics (K.T.), Diana Princess of Wales Hospital, Grimsby, United Kingdom; Department of Paediatric Endocrinology (J.H.D.), University Hospital Southampton, Southampton, United Kingdom; Department of Paediatrics (V.P.), Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, United Kingdom; Department of Clinical Genetics (S.-M.P.), Cambridge University Hospitals NHS Foundation Trust, Cambridge United Kingdom; London N W Healthcare NHS Trust (A.F.M.), Harrow, Middlesex, United Kingdom; Division of Population Medicine (J.W.G.), School of Medicine, Cardiff University, Heath Park Cardiff, UK; Department of Paediatric Endocrinology (A.A.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Centre for Endocrinology (E.P.-G.), William Harvey Research Institute, Queen Mary University London and Children's Hospital, Barts Health NHS Trust, London, United Kingdom; Department of Medical Genetics (H.M., K.B., E.R.M.), University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

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http://dx.doi.org/10.1210/jc.2016-1879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155683PMC
December 2016

Recent advances in central congenital hypothyroidism.

J Endocrinol 2015 Dec 28;227(3):R51-71. Epub 2015 Sep 28.

University of Cambridge Metabolic Research LaboratoriesWellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Level 4, PO Box 289, Hills Road, Cambridge CB2 0QQ, UKDevelopmental Endocrinology Research GroupSection of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.

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http://joe.endocrinology-journals.org/content/227/3/R51.full
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http://joe.endocrinology-journals.org/lookup/doi/10.1530/JOE
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http://dx.doi.org/10.1530/JOE-15-0341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4629398PMC
December 2015

Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism.

Nat Rev Endocrinol 2015 May 24;11(5):258-9. Epub 2015 Feb 24.

University of Cambridge Metabolic Research Laboratories, Level 4, Wellcome Trust-MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

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http://www.nature.com/articles/nrendo.2015.27
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http://dx.doi.org/10.1038/nrendo.2015.27DOI Listing
May 2015

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.

J Clin Endocrinol Metab 2014 Jul 19;99(7):E1381-6. Epub 2014 Mar 19.

University of Cambridge Metabolic Research Laboratories (N.S., C.M., M.A., O.R., G.L., M.G., K.C.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom; Institute of Endocrine Sciences (I.C., P.B.-P.), University of Milan, 20132 Milan, Italy; Department of Biochemistry (J.S.), University of Leicester, Leicester LE1 7RH, United Kingdom; Departments of Paediatrics (T.B.) and Clinical Chemistry (M.B.), Birmingham Childrens Hospital, Birmingham B15 2TT, United Kingdom; Departments of Endocrinology (M.D.), St Bartholomew's Hospital, London E1 4NS, United Kingdom; Department of Clinical Biochemistry (F.G.), Ealing Hospital, London UB1 3EU, United Kingdom; Department of Clinical Biochemistry (A.O., P.C.), Selly Oak Hospital, Birmingham B29 6JD, United Kingdom; and Department of Clinical Biochemistry (O.B., S.B., D.H.), Addenbrooke's Hospital, Cambridge CB2 2OO, United Kingdom.

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https://www.repository.cam.ac.uk/bitstream/handle/1810/24658
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http://press.endocrine.org/doi/abs/10.1210/jc.2013-4077
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http://dx.doi.org/10.1210/jc.2013-4077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191552PMC
July 2014

An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

J Clin Endocrinol Metab 2013 Nov 12;98(11):4254-61. Epub 2013 Aug 12.

University of Cambridge, Metabolic Research Laboratories, Institute of Metabolic Science, Level 4, Box 289, Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-2215DOI Listing
November 2013

Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha.

Biochim Biophys Acta 2013 Jul 23;1830(7):4004-8. Epub 2013 Mar 23.

Institute of Metabolic Science, University of Cambridge, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165130009
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http://dx.doi.org/10.1016/j.bbagen.2013.03.018DOI Listing
July 2013

Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy.

J Clin Endocrinol Metab 2012 Mar 11;97(3):E438-42. Epub 2012 Jan 11.

Wolfson Brain Imaging Centre, Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2011-2587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380089PMC
March 2012

A mutation in the thyroid hormone receptor alpha gene.

N Engl J Med 2012 Jan 14;366(3):243-9. Epub 2011 Dec 14.

University of Cambridge Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1110296DOI Listing
January 2012