Beatrice Parfait

Beatrice Parfait

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Beatrice Parfait

Beatrice Parfait

Publications by authors named "Beatrice Parfait"

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Coexistence of schwannomatosis and glioblastoma in two families.

Eur J Med Genet 2019 Aug 22;62(8):103680. Epub 2019 May 22.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103680DOI Listing
August 2019

Segmental schwannomatosis: characteristics in 12 patients.

Orphanet J Rare Dis 2019 Aug 22;14(1):207. Epub 2019 Aug 22.

Service de Dermatologie, Hôpital Larrey, CHU de Toulouse, Toulouse, France.

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http://dx.doi.org/10.1186/s13023-019-1176-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704629PMC
August 2019

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Eur J Hum Genet 2015 May 30;23(5):596-601. Epub 2014 Jul 30.

1] Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France [2] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402624PMC
May 2015

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

J Hum Genet 2015 Apr 29;60(4):221-4. Epub 2015 Jan 29.

1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://www.nature.com/articles/jhg20156
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http://dx.doi.org/10.1038/jhg.2015.6DOI Listing
April 2015

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

Clin Cancer Res 2014 Jan 11;20(2):358-71. Epub 2013 Nov 11.

Authors' Affiliations: UMR_S745 INSERM, Université Paris Descartes Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques; Department of Plastic and Reconstructive Surgery, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), PRES Sorbonne Paris Cité; Service d'Anatomie et Cytologie Pathologiques, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Cochin, Université Paris Descartes; Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP); UMR8194 CNRS, PRES Sorbonne Paris Cité, Paris Descartes; Department of Orthopedic Surgery, Cochin Hospital; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Cochin, Laboratory of Biochemistry; Tumour bank, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University; INSERM, U1016, Institut Cochin, and CNRS, UMR8104, Paris; Département de pathologie Assistance Publique-Hôpitaux de Paris (AP-HP) and Université Paris Est Créteil (UPEC); Platform of Biological Ressources; Department of Plastic and Reconstructive Surgery, Assistance Publique-Hôpitaux de Paris (AP-HP) and Université Paris Est Créteil (UPEC), Hôpital Henri-Mondor; Department of Dermatology, Hôpital Henri-Mondor, Assistance Publique-Hôpitaux de Paris (AP-HP) and EA 4393 LIC, UPEC, Créteil, France; Laboratoire d'Oncogénétique, Institut Curie, Hôpital René Huguenin; FNCLCC, Saint-Cloud; and Genetics Division, Department of Medicine, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1158/1078-0432.CCR-13-0780DOI Listing
January 2014

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

Neuro Oncol 2014 Jan 18;16(2):250-5. Epub 2013 Dec 18.

Corresponding author: Ilyess Zemmoura, MD, Service de Neurochirurgie, CHRU Bretonneau, 2 boulevard Tonnellé, 37004, Tours Cedex, France.

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http://dx.doi.org/10.1093/neuonc/not165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895380PMC
January 2014

Prevalence of low phospholipid-associated cholelithiasis in young female patients.

Dig Liver Dis 2013 Nov 16;45(11):915-9. Epub 2013 May 16.

Services d'hépato-gastro-entérologie, de radiologie et de chirurgie viscérale, Hôpital Saint-Camille, Bry-sur-Marne, France. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2013.04.002DOI Listing
November 2013

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Hum Mutat 2013 Nov 26;34(11):1510-8. Epub 2013 Aug 26.

UMR745 INSERM, PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; IRD, UMR216, Mère et enfant face aux infections tropicales, Paris, France; PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/humu.22392DOI Listing
November 2013

Neurofibromatosis type 2 in the elderly population: clinical and molecular features.

Am J Med Genet A 2013 Apr 15;161A(4):667-70. Epub 2013 Jan 15.

Department of Neurosurgery, NF2 Clinic, APHP, Hôpital Beaujon, Clichy, France.

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http://dx.doi.org/10.1002/ajmg.a.35851DOI Listing
April 2013

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Am J Med Genet A 2012 Sep 27;158A(9):2290-1. Epub 2012 Jul 27.

Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35496DOI Listing
September 2012

Long-term follow-up of 287 meningiomas in neurofibromatosis type 2 patients: clinical, radiological, and molecular features.

Neuro Oncol 2012 Aug 18;14(8):1090-6. Epub 2012 Jun 18.

Department of Neurosurgery, Neurofibromatosis type 2 clinic, Hôpital Beaujon, Assistance Publique Hôpitaux de Paris, Clichy, France.

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http://dx.doi.org/10.1093/neuonc/nos129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408259PMC
August 2012

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

J Natl Cancer Inst 2011 Nov 27;103(22):1713-22. Epub 2011 Oct 27.

UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, 4 avenue de l'Observatoire, Paris, France.

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http://dx.doi.org/10.1093/jnci/djr416DOI Listing
November 2011

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

J Mol Diagn 2009 Nov 18;11(6):524-9. Epub 2009 Sep 18.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, 4 avenue de l'Observatoire, 75006 Paris, France.

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http://dx.doi.org/10.2353/jmoldx.2009.090064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765750PMC
November 2009

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Hum Mol Genet 2009 Aug 5;18(15):2768-78. Epub 2009 May 5.

Faculté des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Université Paris Descartes, Paris 75006, France.

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http://dx.doi.org/10.1093/hmg/ddp212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722187PMC
August 2009

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Eur J Hum Genet 2008 Dec 23;16(12):1459-66. Epub 2008 Jul 23.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.134DOI Listing
December 2008

Gene symbol: MAP2K2. Disease: Cardio-Facio-Cutaneous syndrome.

Hum Genet 2008 Jun;123(5):543

InsermU745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Avenue de l’observatoire,4, 75006, Paris, France.

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June 2008

Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1.

Clin Cancer Res 2007 Jan 3;13(2 Pt 1):398-407. Epub 2007 Jan 3.

Laboratoire de Génétique Moléculaire-Institut National de la Sante et de la Recherche Medicale U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, 4 avenue de l'Observatoire, Paris, France.

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http://clincancerres.aacrjournals.org/lookup/doi/10.1158/107
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http://dx.doi.org/10.1158/1078-0432.CCR-06-0182DOI Listing
January 2007

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

FEBS Lett 2006 May 12;580(10):2477-82. Epub 2006 Apr 12.

INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université René Descartes 4 avenue de l'Observatoire, 75270 Paris Cedex 06, France.

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http://dx.doi.org/10.1016/j.febslet.2006.03.088DOI Listing
May 2006

Noonan syndrome: relationships between genotype, growth, and growth factors.

J Clin Endocrinol Metab 2006 Jan 1;91(1):300-6. Epub 2005 Nov 1.

Department of Pediatrics, University Hospital, 49933 Angers, France.

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http://dx.doi.org/10.1210/jc.2005-0983DOI Listing
January 2006

[Mutation mechanisms and their consequences].

Med Sci (Paris) 2005 Nov;21(11):969-80

Laboratoire de Génétique Moléculaire EA 3618, Université René Descartes Paris 5, Faculté des Sciences Pharmaceutiques et Biologiques, 4, avenue de l'Observatoire, 75006 Paris, France.

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http://dx.doi.org/10.1051/medsci/20052111969DOI Listing
November 2005

Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.

Proteins 2005 Jan;58(1):7-13

INSERM U428, Faculté des Sciences Pharmaceutiques et Biologiques, PARIS, France.

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http://dx.doi.org/10.1002/prot.20296DOI Listing
January 2005

Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR.

Mol Cancer 2004 Jul 15;3:20. Epub 2004 Jul 15.

Laboratoire de Génétique Moléculaire-UPRES EA 3618, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, Paris, France.

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http://dx.doi.org/10.1186/1476-4598-3-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC493279PMC
July 2004

CGA gene (coding for the alpha subunit of glycoprotein hormones) overexpression in ER alpha-positive prostate tumors.

Eur Urol 2002 Mar;41(3):335-41

Laboratoire de Génétique Moléculaire-UPRES JE 2195, Faculté des Sciences Pharmaceutiques et Biologiques de Paris, Université René Descartes-Paris V, 4 Avenue de l'Observatoire, F-75006 Paris, France.

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http://dx.doi.org/10.1016/s0302-2838(02)00020-9DOI Listing
March 2002