Publications by authors named "Katherine Lachlan"

50Publications

Haematological chimerism masquerading as disorder of sex development.

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

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

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http://dx.doi.org/10.1111/cen.14160DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.61449DOI Listing
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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http://dx.doi.org/10.1002/ajmg.c.31743DOI Listing
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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http://dx.doi.org/10.1016/j.stem.2019.03.004DOI Listing
May 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 03 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

: 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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http://dx.doi.org/10.1136/jmedgenet-2016-104100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502304PMC
April 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Changes over time in sex assignment for disorders of sex development.

Pediatrics 2014 Sep 4;134(3):e710-5. Epub 2014 Aug 4.

Pediatric Endocrinology and Diabetes Unit, Dana Children's Hospital, Tel Aviv, Israel; Sourasky Medical Center, Tel Aviv, Israel; and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1542/peds.2014-1088DOI Listing
September 2014

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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http://dx.doi.org/10.1093/jnci/djt290DOI Listing
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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http://dx.doi.org/10.1007/s00467-013-2484-xDOI Listing
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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http://dx.doi.org/10.1016/j.mce.2012.11.002DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S17697212120025
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http://dx.doi.org/10.1016/j.ejmg.2012.08.012DOI Listing
January 2013

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2011 Jun 22;21(6):420-7. Epub 2011 Apr 22.

Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.03.006DOI Listing
June 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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http://dx.doi.org/10.1136/jnnp.2009.176255DOI Listing
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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http://dx.doi.org/10.1097/MCD.0b013e3283365a6aDOI Listing
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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http://dx.doi.org/10.1007/s00439-008-0611-8DOI Listing
March 2009

Clinical and radiographic delineation of odontochondrodysplasia.

Am J Med Genet A 2008 Mar;146A(6):770-8

Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32214DOI Listing
March 2008

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Hum Mutat 2006 Nov;27(11):1092-103

DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA.

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http://dx.doi.org/10.1002/humu.20392DOI Listing
November 2006

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Eur J Hum Genet 2005 Jun;13(6):716-20

Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201377DOI Listing
June 2005

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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http://dx.doi.org/10.1007/s00439-004-1175-xDOI Listing
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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http://dx.doi.org/10.1038/sj.ejhg.5201252DOI Listing
October 2004