Ludwine Messiaen

Ludwine Messiaen

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Ludwine Messiaen

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

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

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Child Neurology: Spastic paraparesis and dystonia with a novel mutation.

Neurology 2019 09;93(11):510-514

From the Departments of Neurology (M.D., D.G.S.) and Genetics (L.M., B.R.K.) and Division of Pediatric Neurology, Department of Pediatrics (S.R.), University of Alabama at Birmingham; and HudsonAlpha Institute for Biotechnology (G.M.C., M.D.A.), Huntsville, AL.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000008089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746208PMC
September 2019

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

Am J Med Genet A 2019 06 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
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

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Hum Genet 2019 Jan 26;138(1):73-81. Epub 2018 Nov 26.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-018-1961-5DOI Listing
January 2019

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Hum Genet 2018 Jul 10;137(6-7):511-520. Epub 2018 Jul 10.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-018-1904-1DOI Listing
July 2018

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

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.

Neurogenetics 2017 Jul 11;18(3):169-174. Epub 2017 Mar 11.

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1007/s10048-017-0512-xDOI Listing
July 2017

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

Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.

PLoS One 2015 12;10(6):e0129216. Epub 2015 Jun 12.

Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America; Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129216PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466565PMC
March 2016

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

J Med Genet 2016 Feb 2;53(2):123-6. Epub 2015 Sep 2.

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103177DOI Listing
February 2016

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

Hum Mol Genet 2016 Feb 27;25(3):484-96. Epub 2015 Nov 27.

Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany,

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http://dx.doi.org/10.1093/hmg/ddv487DOI Listing
February 2016

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Am J Med Genet A 2015 Dec 14;167A(12):3186-91. Epub 2015 Sep 14.

Division of Pediatric Hematology and Oncology, University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.37356DOI Listing
December 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Decoding NF1 Intragenic Copy-Number Variations.

Am J Hum Genet 2015 Aug 16;97(2):238-49. Epub 2015 Jul 16.

Medical Genomics Laboratory, 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.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573439PMC
August 2015

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

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.

Hum Mutat 2014 Jul 21;35(7):891-8. Epub 2014 May 21.

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

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http://dx.doi.org/10.1002/humu.22569DOI Listing
July 2014

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

Elucidating distinct roles for NF1 in melanomagenesis.

Cancer Discov 2013 Mar 21;3(3):338-49. Epub 2012 Nov 21.

Genetics Division, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1158/2159-8290.CD-12-0313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595355PMC
March 2013

Review and update of SPRED1 mutations causing Legius syndrome.

Hum Mutat 2012 Nov 1;33(11):1538-46. Epub 2012 Aug 1.

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22152DOI Listing
November 2012

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

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.

PLoS Genet 2011 Nov 17;7(11):e1002371. Epub 2011 Nov 17.

Division Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1371/journal.pgen.1002371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219598PMC
November 2011

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

Hum Mutat 2011 Feb;32(2):213-9

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

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http://doi.wiley.com/10.1002/humu.21418
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http://dx.doi.org/10.1002/humu.21418DOI Listing
February 2011

The development of cutaneous neurofibromas.

Am J Pathol 2011 Feb;178(2):500-5

Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.

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http://dx.doi.org/10.1016/j.ajpath.2010.10.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070575PMC
February 2011

Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.

J Am Acad Dermatol 2010 Sep 3;63(3):440-7. Epub 2010 Jun 3.

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

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http://linkinghub.elsevier.com/retrieve/pii/S019096220901251
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http://dx.doi.org/10.1016/j.jaad.2009.09.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922676PMC
September 2010

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.

Genet Test Mol Biomarkers 2010 Aug;14(4):505-10

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

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http://dx.doi.org/10.1089/gtmb.2009.0188DOI Listing
August 2010

NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome.

Cell 2010 Jul;142(2):218-29

Divisions of Molecular Carcinogenesis and Molecular Genetics, Center for Biomedical Genetics and Cancer Genomics Center, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cell.2010.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913027PMC
July 2010

Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2.

J Neurosurg 2010 Jan;112(1):81-7

Department of Otorhinolaryngology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.3171/2009.6.JNS09105DOI Listing
January 2010

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
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.

Ophthalmic Genet 2008 Sep;29(3):133-8

School of Medicine, Oregon Health & Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1080/13816810802206507DOI Listing
September 2008

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

Am J Hum Genet 2007 Aug 20;81(2):243-51. Epub 2007 Jun 20.

Center for Medical Genetics, Department of Dermatology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1086/519562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950809PMC
August 2007

Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.

Anal Biochem 2006 Dec 14;359(1):144-6. Epub 2006 Aug 14.

Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ab.2006.07.039DOI Listing
December 2006

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).

Am J Med Genet A 2006 Aug;140(15):1647-54

Department of Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1002/ajmg.a.31330DOI Listing
August 2006

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

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

Arch Dermatol Res 2006 Apr 15;297(10):439-49. Epub 2006 Feb 15.

Department of Dermatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1007/s00403-006-0644-6DOI Listing
April 2006

Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt.

Biochem Biophys Res Commun 2006 Feb 4;340(4):1200-8. Epub 2006 Jan 4.

Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.bbrc.2005.12.129DOI Listing
February 2006

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

Am J Med Genet A 2005 Jul;136(3):242-5

Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30813DOI Listing
July 2005

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Am J Med Genet A 2005 Apr;134A(1):12-23

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

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http://dx.doi.org/10.1002/ajmg.a.30106DOI Listing
April 2005

Pigment cell-related manifestations in neurofibromatosis type 1: an overview.

Pigment Cell Res 2005 Feb;18(1):13-24

Department of Dermatology, Ghent University, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1111/j.1600-0749.2004.00206.xDOI Listing
February 2005

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.

Dermatology 2004 ;209(3):223-7

Department of Dermatology, University Hospital Ghent, Ghent, Belgium.

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http://dx.doi.org/10.1159/000079894DOI Listing
December 2004

The human FOXL2 mutation database.

Hum Mutat 2004 Sep;24(3):189-93

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.20079DOI Listing
September 2004

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

Hum Genet 2004 Feb 6;114(3):284-90. Epub 2003 Nov 6.

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185-0K5, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1007/s00439-003-1047-9DOI Listing
February 2004

Neurofibromin is actively transported to the nucleus.

FEBS Lett 2004 Feb;560(1-3):98-102

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185-0K5, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/S0014-5793(04)00078-XDOI Listing
February 2004

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Genes Chromosomes Cancer 2003 Jul;37(3):314-20

Center for Medical Genetics, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1002/gcc.10221DOI Listing
July 2003

Quantification of NF1 transcripts reveals novel highly expressed splice variants.

FEBS Lett 2002 Jul;522(1-3):71-6

Centre for Medical Genetics, Ghent University Hospital-0K5, De Pintelaan 185, Belgium.

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http://dx.doi.org/10.1016/s0014-5793(02)02887-9DOI Listing
July 2002