Louise C Wilson

Louise C Wilson

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Louise C Wilson

Louise C Wilson

Publications by authors named "Louise C Wilson"

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Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Bone 2020 Jan 23;130:115098. Epub 2019 Oct 23.

Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115098DOI Listing
January 2020

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Am J Med Genet A 2019 Jul 15;179(7):1346-1350. Epub 2019 May 15.

Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.61169DOI Listing
July 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

J Clin Endocrinol Metab 2019 Apr;104(4):1079-1089

Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380466PMC
April 2019

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Am J Med Genet A 2015 Dec 3;167A(12):3153-60. Epub 2015 Sep 3.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37336DOI Listing
December 2015

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37044DOI Listing
June 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.

Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36066DOI Listing
September 2013

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.33998DOI Listing
June 2011

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

Pediatr Diabetes 2009 May 22;10(3):193-7. Epub 2008 Oct 22.

Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/j.1399-5448.2008.00470.xDOI Listing
May 2009

Immunological abnormalities in CHARGE syndrome.

Eur J Med Genet 2007 Sep-Oct;50(5):338-45. Epub 2007 May 27.

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.002DOI Listing
November 2007

Cranio-osteoarthropathy in sibs.

Clin Dysmorphol 2007 Jul;16(3):197-201

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32801470d8DOI Listing
July 2007

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

Am J Med Genet A 2006 Dec;140(23):2625-30

Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.31374
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31374DOI Listing
December 2006

Albright's hereditary osteodystrophy.

Authors:
Louise C Wilson

J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:671-3

Clinical & Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK.

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http://dx.doi.org/10.1515/jpem.2006.19.s2.671DOI Listing
May 2006

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.

Semin Musculoskelet Radiol 2002 Dec;6(4):273-83

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1055/s-2002-36726DOI Listing
December 2002