Publications by authors named "Katherine Lachlan"

52Publications

Haematological chimerism masquerading as disorder of sex development.

Clin Endocrinol (Oxf) 2020 05 3;92(5):487-489. Epub 2020 Feb 3.

Department of Paediatric Endocrinology, King's College Hospital, London, UK.

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May 2020

Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.

Am J Med Genet A 2020 03 12;182(3):553-556. Epub 2019 Dec 12.

Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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March 2020

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.

Am J Med Genet C Semin Med Genet 2019 12 14;181(4):591-610. Epub 2019 Oct 14.

Wessex Clinical Genetics Service, University Hospitals Southampton NHS Trust, Southampton, United Kingdom.

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December 2019

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.

Cell Stem Cell 2019 05 11;24(5):736-752.e12. Epub 2019 Apr 11.

Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany; Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), University of Cantabria, Cantabria, Spain. Electronic address:

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May 2019

: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

J Med Genet 2017 04 3;54(4):269-277. Epub 2016 Nov 3.

Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK.

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April 2017

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

J Natl Cancer Inst 2013 Nov 17;105(21):1595-7. Epub 2013 Oct 17.

Affiliations of author: Wessex Clinical Genetics Service, University of Southampton Foundation NHS Trust, Southampton, UK; and Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southamption, UK.

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November 2013

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.

Pediatr Nephrol 2013 Nov 28;28(11):2217-20. Epub 2013 Apr 28.

Regional Paediatric Nephro-Urology Unit, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK,

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November 2013

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

Mol Cell Endocrinol 2013 Jan 16;365(2):277-91. Epub 2012 Nov 16.

Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo, Hospital de Clínicas José de San Martín, C1120AAR Buenos Aires, Argentina.

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January 2013

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Eur J Med Genet 2013 Jan 8;56(1):1-6. Epub 2012 Oct 8.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, UK.

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January 2013

Autism, language and communication in children with sex chromosome trisomies.

Arch Dis Child 2011 Oct 23;96(10):954-9. Epub 2010 Jul 23.

Department of Experimental Psychology, University of Oxford, Tinbergen Building, 2, South Parks Road, Oxford OX1 3UD, UK.

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October 2011

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

J Neurol Neurosurg Psychiatry 2010 Mar;81(3):310-2

Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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March 2010

Amniotic bands in paternal half-siblings.

Clin Dysmorphol 2010 Apr;19(2):62-4

Princess Anne Hospital, University of Southampton, UK.

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April 2010

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).

Hum Genet 2009 Mar 24;125(2):181-8. Epub 2008 Dec 24.

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, SP2 8BJ, UK.

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March 2009

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Hum Genet 2004 Oct 24;115(5):399-408. Epub 2004 Aug 24.

Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, SO16 5YA, Southampton, UK.

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October 2004

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Eur J Hum Genet 2004 Oct;12(10):790-6

Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK.

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October 2004