Ludwine M Messiaen

Ludwine M Messiaen

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Ludwine M Messiaen

Ludwine M Messiaen

Publications by authors named "Ludwine M Messiaen"

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From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Am J Med Genet A 2019 Jun 25;179(6):1098-1106. Epub 2019 Mar 25.

Division of Neuroscience, Oregon National Primate Research Center, and Department of Cell, Developmental and Cancer Biology, Oregon Health & Science University, Portland, Oregon.

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http://dx.doi.org/10.1002/ajmg.a.61112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488427PMC
June 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.

J Am Acad Dermatol 2017 Jun 18;76(6):1077-1083.e3. Epub 2017 Mar 18.

Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, Alabama.

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http://dx.doi.org/10.1016/j.jaad.2017.02.027DOI Listing
June 2017

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

Am J Med Genet A 2017 Mar 14;173(3):647-653. Epub 2016 Nov 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38058DOI Listing
March 2017

Sex-discordant monochorionic twins with blood and tissue chimerism.

Am J Med Genet A 2015 Apr 23;167A(4):872-7. Epub 2015 Feb 23.

Division of Genetics, Department of Pediatrics, School of Medicine University of Texas at Houston, Houston, Texas; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.37022DOI Listing
April 2015

Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.

Am J Med Genet A 2013 Aug 4;161A(8):2105-7. Epub 2013 Jul 4.

Department of Pediatrics, Division of Endocrinology, LSU Health Sciences Center and Children's Hospital, New Orleans, LA 70118, USA.

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http://dx.doi.org/10.1002/ajmg.a.36031DOI Listing
August 2013

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Pediatr Neurol 2013 Jun;48(6):447-53

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.02.004DOI Listing
June 2013

Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.

Am J Med Genet A 2012 May 21;158A(5):1195-9. Epub 2012 Mar 21.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.35297DOI Listing
May 2012

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Double inactivation of NF1 in tibial pseudarthrosis.

Am J Hum Genet 2006 Jul 10;79(1):143-8. Epub 2006 May 10.

Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA.

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http://dx.doi.org/10.1086/504441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474128PMC
July 2006