Publications by authors named "Muriel Holder-Espinasse"

71Publications

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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http://dx.doi.org/10.1111/cen.14160DOI Listing
May 2020

Post-mortem Characterisation of a Case With an Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.

Front Physiol 2019 24;10:623. Epub 2019 May 24.

Centre for the Developing Brain, Division of Imaging Sciences and Biomedical Engineering, King's College London, St Thomas' Hospital, London, United Kingdom.

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http://dx.doi.org/10.3389/fphys.2019.00623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558385PMC
May 2019

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome.

Front Genet 2019 30;10:21. Epub 2019 Jan 30.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.3389/fgene.2019.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363664PMC
January 2019

Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).

J Hand Surg Eur Vol 2019 Jan 31;44(1):80-87. Epub 2018 Oct 31.

2 Clinical Genetics Department, Guy's Hospital, UK.

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http://dx.doi.org/10.1177/1753193418807375DOI Listing
January 2019

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Orphanet J Rare Dis 2018 04 4;13(1):47. Epub 2018 Apr 4.

Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, SE1 9RT, UK.

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http://dx.doi.org/10.1186/s13023-018-0795-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885380PMC
April 2018

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Am J Med Genet A 2016 12 19;170(12):3133-3137. Epub 2016 Sep 19.

Division of Medical and Molecular Genetics, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37946DOI Listing
December 2016

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Hum Mutat 2015 Aug 11;36(8):743-52. Epub 2015 Jun 11.

Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1002/humu.22804DOI Listing
August 2015

Clinical utility gene card for: 3-M syndrome - update 2013.

Eur J Hum Genet 2014 Apr 31;22(4). Epub 2013 Jul 31.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953895PMC
April 2014

Phenotypic variability of prenatally presenting Gaucher's disease.

Prenat Diagn 2013 Oct 4;33(10):1004-6. Epub 2013 Jul 4.

Department of Pathology, University Hospital, CHRU and Lille II University, Lille, France.

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http://dx.doi.org/10.1002/pd.4171DOI Listing
October 2013

Tracheal regeneration: evidence of bone marrow mesenchymal stem cell involvement.

J Thorac Cardiovasc Surg 2013 May 27;145(5):1297-1304.e2. Epub 2012 Oct 27.

University of Paris Descartes, Alain Carpentier Foundation, EA Laboratory of Surgical Research, Assistance Publique-Hôpitaux de Paris, European Georges Pompidou Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.jtcvs.2012.09.079DOI Listing
May 2013

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Am J Hum Genet 2012 Aug 12;91(2):358-64. Epub 2012 Jul 12.

South West Thames Regional Genetics Service, St George's Hospital, University of London, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539PMC
August 2012

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

Eur J Med Genet 2011 Sep-Oct;54(5):e525-7. Epub 2011 Jul 14.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.011DOI Listing
December 2011

Clinical utility gene card for: 3M syndrome.

Eur J Hum Genet 2011 Sep 2;19(9). Epub 2011 Mar 2.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.

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http://dx.doi.org/10.1038/ejhg.2011.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179355PMC
September 2011

Crane-Heise syndrome: two further case reports.

Eur J Med Genet 2011 Mar-Apr;54(2):169-72. Epub 2010 Nov 20.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, 59037 Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.004DOI Listing
August 2011

Tracheal replacement with cryopreserved, decellularized, or glutaraldehyde-treated aortic allografts.

Ann Thorac Surg 2009 Mar;87(3):861-7

Laboratoire de Recherches Biochirurgicales, Fondation Alain Carpentier, Université Paris V, Paris, France.

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http://dx.doi.org/10.1016/j.athoracsur.2008.11.038DOI Listing
March 2009

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Eur J Med Genet 2008 Mar-Apr;51(2):172-7. Epub 2008 Jan 14.

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.002DOI Listing
June 2008

A new mutation in TP63 is associated with age-related pathology.

Eur J Hum Genet 2007 Nov 4;15(11):1115-20. Epub 2007 Jul 4.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201888DOI Listing
November 2007

Tracheal replacement by allogenic aorta in the pig.

Chest 2006 Nov;130(5):1397-404

Département de Chirurgie, Polyclinique du Bois, Lille, France.

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http://dx.doi.org/10.1378/chest.130.5.1397DOI Listing
November 2006

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Eur J Hum Genet 2006 May;14(5):549-54

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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http://dx.doi.org/10.1038/sj.ejhg.5201586DOI Listing
May 2006

Tracheal regeneration following tracheal replacement with an allogenic aorta.

Ann Thorac Surg 2005 Mar;79(3):942-8; discussion 949

Laboratoire d'Etude des Greffes et Prothèses Cardiaques, Hôpital Broussais, Université Paris 6, Paris, France.

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http://dx.doi.org/10.1016/j.athoracsur.2004.08.035DOI Listing
March 2005

Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

Am J Med Genet A 2004 Feb;124A(4):417-22

Service de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, 59037 Lille Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.20359DOI Listing
February 2004

Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?

Clin Dysmorphol 2003 Oct;12(4):275

Clinical Genetics Unit, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1097/00019605-200310000-00013DOI Listing
October 2003

Clinical and molecular analysis of nine families with Adams-Oliver syndrome.

Eur J Hum Genet 2003 Jun;11(6):457-63

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5200980DOI Listing
June 2003