Katrina Tatton-Brown

Katrina Tatton-Brown

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Katrina Tatton-Brown

Katrina Tatton-Brown

Publications by authors named "Katrina Tatton-Brown"

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36Publications

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Unusual association of Mayer-Rokitansky-Küster-Hauser and Sotos syndromes: a case report.

Clin Dysmorphol 2019 Jul;28(3):157-159

South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, Cranmer Terrace.

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http://dx.doi.org/10.1097/MCD.0000000000000273DOI Listing
July 2019

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.

Clin Med (Lond) 2019 Jul;19(4):269-272

St George's University Hospitals NHS Foundation Trust, London, UK and professor in clinical genetics and genomic education, St George's, University of London, London, UK and Joint Committee on Genomics in Medicine, Royal College of Physicians, London, UK

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http://dx.doi.org/10.7861/clinmedicine.19-4-269DOI Listing
July 2019

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Am J Med Genet A 2019 Mar 13;179(3):344-349. Epub 2019 Jan 13.

South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.61024DOI Listing
March 2019

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J Endocr Soc 2018 Oct 3;2(10):1100-1108. Epub 2018 Aug 3.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1210/js.2018-00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137279PMC
October 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Am J Med Genet A 2018 05 31;176(5):1108-1114. Epub 2018 Jan 31.

South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38610DOI Listing
May 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Am J Hum Genet 2017 May;100(5):725-736

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355PMC
May 2017

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

JAMA Ophthalmol 2016 Sep;134(9):1049-53

Institute of Ophthalmology, University College London, London, England2Moorfields Eye Hospital, London, England7Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5833DOI Listing
September 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Pneumothorax from subpleural blebs-a new association of sotos syndrome?

Am J Med Genet A 2014 May 23;164A(5):1222-6. Epub 2014 Jan 23.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, Yorkshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36406DOI Listing
May 2014

The NSD1 and EZH2 overgrowth genes, similarities and differences.

Am J Med Genet C Semin Med Genet 2013 May 16;163C(2):86-91. Epub 2013 Apr 16.

Institute of Cancer Research, St George's University of London and the Royal Marsden Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.c.31359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845886PMC
May 2013

Molecular mechanisms of childhood overgrowth.

Am J Med Genet C Semin Med Genet 2013 May 18;163C(2):71-5. Epub 2013 Apr 18.

Institute of Cancer Research, St George's University of London and the Royal Marsden Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.c.31362DOI Listing
May 2013

Sotos syndrome.

Eur J Hum Genet 2007 Mar 13;15(3):264-71. Epub 2006 Sep 13.

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201686DOI Listing
March 2007

Evaluation of NSD2 and NSD3 in overgrowth syndromes.

Eur J Hum Genet 2005 Feb;13(2):150-3

Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201298DOI Listing
February 2005

Clinical features of NSD1-positive Sotos syndrome.

Clin Dysmorphol 2004 Oct;13(4):199-204

Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.

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October 2004