Nicole Revencu

Nicole Revencu

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Nicole Revencu

Nicole Revencu

Publications by authors named "Nicole Revencu"

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mosaic mutations in patients with capillary malformation-arteriovenous malformation.

J Med Genet 2019 Jul 12. Epub 2019 Jul 12.

Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center.

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http://dx.doi.org/10.1136/jmedgenet-2019-106024DOI Listing
July 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome.

Blood Press 2019 04 9;28(2):139-143. Epub 2019 Jan 9.

a Division of Cardiology , Cliniques Universitaires Saint-Luc, Université Catholique de Louvain , Brussels , Belgium.

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https://www.tandfonline.com/doi/full/10.1080/08037051.2018.1
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http://dx.doi.org/10.1080/08037051.2018.1557507DOI Listing
April 2019

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

Eur J Med Genet 2019 Feb 2. Epub 2019 Feb 2.

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.010DOI Listing
February 2019

Unmasking familial CPX by WES and identification of novel clinical signs.

Am J Med Genet A 2018 12 21;176(12):2661-2667. Epub 2018 Nov 21.

Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.40630DOI Listing
December 2018

Angiosarcoma arising from congenital primary lymphedema.

Pediatr Dermatol 2018 Nov 14;35(6):e382-e388. Epub 2018 Sep 14.

Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1111/pde.13664DOI Listing
November 2018

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

Heredity of port-wine stains: investigation of families without a RASA1 mutation.

J Cosmet Laser Ther 2015 12;17(4):204-8. Epub 2015 Mar 12.

Department of Dermatology, Laser & Vascular Anomaly, Skåne University Hospital , Malmoe , Sweden.

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http://www.tandfonline.com/doi/full/10.3109/14764172.2015.10
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http://dx.doi.org/10.3109/14764172.2015.1007060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975081PMC
May 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Am J Med Genet A 2016 May 20;170A(5):1216-24. Epub 2016 Jan 20.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37564DOI Listing
May 2016

Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.

Atherosclerosis 2016 Apr 5;247:97-104. Epub 2016 Feb 5.

Université catholique de Louvain, Cliniques Universitaires Saint Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, Bruxelles, Belgium. Electronic address:

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http://nordphysicianguides.org/wp-content/uploads/2014/06/NO
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http://linkinghub.elsevier.com/retrieve/pii/S002191501630052
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http://dx.doi.org/10.1016/j.atherosclerosis.2016.02.009DOI Listing
April 2016

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

Am J Med Genet A 2014 Jul 3;164A(7):1789-94. Epub 2014 Apr 3.

Center for Human Genetics, Cliniques Universitaires St. Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36516DOI Listing
July 2014

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

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.

Am J Med Genet A 2013 Dec 24;161A(12):3176-81. Epub 2013 Sep 24.

Department of Pediatrics, Landeskrankenhaus Feldkirch, Academic Teaching Hospital, Austria.

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http://dx.doi.org/10.1002/ajmg.a.36176DOI Listing
December 2013

Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

J Pediatr 2009 Jul 25;155(1):90-3. Epub 2009 Apr 25.

Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2009.02.023DOI Listing
July 2009

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Eur J Hum Genet 2005 Nov;13(11):1239-42

Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and University of Louvain Medical School, Brussels, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201486DOI Listing
November 2005

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

Eur J Pediatr 2004 Jan 30;163(1):33-7. Epub 2003 Oct 30.

Center for Human Genetics and Medical Genetics Unit, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Av. Mounier 5220, 1200 Brussels, Belgium.

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http://dx.doi.org/10.1007/s00431-003-1330-8DOI Listing
January 2004