Nadem Soufir

Nadem Soufir

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Nadem Soufir

Publications by authors named "Nadem Soufir"

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42Publications

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Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.

Genes Chromosomes Cancer 2018 Jun 21;57(6):294-303. Epub 2018 Feb 21.

INSERM U976, Centre de Recherche sur la Peau, Hôpital Saint Louis, 75010, Paris, France.

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http://dx.doi.org/10.1002/gcc.22528DOI Listing
June 2018

Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.

Genes Chromosomes Cancer 2017 09 23;56(9):691-694. Epub 2017 Jun 23.

Département of Biopathology, Centre Leon Bérard, Lyon, France.

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http://dx.doi.org/10.1002/gcc.22473DOI Listing
September 2017

Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.

Endocr Relat Cancer 2016 10 10;23(10):T57-67. Epub 2016 Aug 10.

Department of Digestive OncologyBeaujon Hospital, Paris 7 University, APHP, Clichy, France

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http://dx.doi.org/10.1530/ERC-16-0269DOI Listing
October 2016

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

J Natl Cancer Inst 2016 Mar 17;108(3). Epub 2015 Dec 17.

Affiliations of authors: INSERM, U976, Centre de Recherche sur la Peau, Hôpital Saint Louis , Paris , France (HHH, JA, SM, LM, VD, NBS, MB, AB, CL, ND, NS); AP-HP, Hôpital Bichat Claude Bernard, Département de Génétique , Paris , France (HHH, CK, AT, BG, NS); Université Paris Diderot, Sorbonne Paris Cité , UMRS976, Paris , France (HHH, CK, JA, LM, NBS, MB, AB, LD, AT, BG, ND, NS); Université Paris 6, INSERM UMRS975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, AP-HP , Paris , France (SL, AB); INSERM, U940, Laboratoire de Pharmacologie, Hôpital Saint Louis Paris , France (SM); AP-HP, Hôpital Bichat Claude Bernard, Service de Dermatologie , Paris , France (VD); AP-HP, Hôpital Saint Louis, Service de Dermatologie , Paris , France (NBS, MB, CL, ND); INSERM, CRB3, Département de Pathologie, Hôpital Bichat, AP-HP , Paris , France (LD); AP-HP, Hôpital Ambroise Paré, Service de Dermatologie , Boulogne Billancourt , France (PS); CHU Grenoble, Service de Dermatologie , Grenoble , France (MTL); Gustave Roussy, Service de Génétique, Département de Biopathologie , Villejuif , France (BBdP); Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580 , Heidelberg , Germany (RK); Department of Neurology, University Hospital of Würzburg , Würzburg , Germany (SK); Inserm UMR1037, Centre de Recherche en Cancérologie de Toulouse , Toulouse , France (NAA); Hôpital de l'Hôtel-Dieu, Service de Dermatologie , Lyon , France (LT); AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique, Cytogénétique et Embryologie , Paris , France (AB).

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http://dx.doi.org/10.1093/jnci/djv340DOI Listing
March 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?

J Am Acad Dermatol 2015 Jun;72(6):e173-6

Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Department of Dermatology, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2015.02.1124DOI Listing
June 2015

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Res Int 2014 10;2014:925716. Epub 2014 Apr 10.

INSERM U976, Centre de Recherche sur la Peau, Hôpital Saint Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France ; Laboratoire de Génétique, Hôpital Bichat Claude Bernard, APHP, IFR02, Université Paris 7, 46 rue Henri Hucahrd, 75018 Paris, France.

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http://dx.doi.org/10.1155/2014/925716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003837PMC
February 2015

Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.

Nat Commun 2014 Feb 26;5:3401. Epub 2014 Feb 26.

Division of Molecular Genetic Epidemiology, German Cancer Research Center, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1038/ncomms4401DOI Listing
February 2014

Genetic variation at KIT locus may predispose to melanoma.

Pigment Cell Melanoma Res 2013 Jan 23;26(1):88-96. Epub 2012 Nov 23.

Département de Génétique, Hôpital Bichat-Claude Bernard, APHP, Paris, France.

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http://dx.doi.org/10.1111/pcmr.12032DOI Listing
January 2013

Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

J Dermatol Sci 2011 Nov 22;64(2):127-33. Epub 2011 Aug 22.

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard, APHP, IFR02, 75018, Paris, France.

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http://dx.doi.org/10.1016/j.jdermsci.2011.07.003DOI Listing
November 2011

Hereditary renal cancer syndromes: an update of a systematic review.

Eur Urol 2010 Nov 27;58(5):701-10. Epub 2010 Aug 27.

AP-HP, Hôpital Saint-Louis, Laboratoire de Pathologie, Paris, France.

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http://dx.doi.org/10.1016/j.eururo.2010.08.031DOI Listing
November 2010

New trends in the susceptibility to melanoma.

Cancer Treat Res 2009 ;146:213-23

Department of Dermatology, Laboratoire de Biochimie Hormonale et Génétique, IFR02, Hopital Bichat-Claude Bernard, 46rue Henri Huchard, Paris, France.

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http://dx.doi.org/10.1007/978-0-387-78574-5_19DOI Listing
September 2010

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

J Invest Dermatol 2010 Jun 7;130(6):1537-42. Epub 2010 Jan 7.

Laboratoire de Biochimie hormonale et génétique, Hôpital Bichat, APHP, Université Paris VII, 46 Rue Henri Huchard, Paris, France.

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http://dx.doi.org/10.1038/jid.2009.409DOI Listing
June 2010

Matrix metalloproteinase-3 and intracranial arterial dolichoectasia.

Ann Neurol 2010 Apr;67(4):508-15

Neurology Department, Versailles Hospital and Versailles Saint-Quentin-en-Yvelines University, Versailles, France.

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http://dx.doi.org/10.1002/ana.21922DOI Listing
April 2010

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.

Eur J Cancer 2009 Dec 26;45(18):3228-36. Epub 2009 May 26.

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, APHP, IFR02, Université Paris, Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1016/j.ejca.2009.04.034DOI Listing
December 2009

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):472-8. Epub 2008 May 2.

Department of Gynecology and Obstetrics, General Hospital, BP 1125, 73011 Chambery cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.002DOI Listing
November 2008

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

J Hum Genet 2007 1;52(9):771-80. Epub 2007 Sep 1.

Laboratoire de Biochimie et Biologie Moléculaire, Faculté de Médecine, Université de la Méditerranée Aix-Marseille II, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France.

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http://dx.doi.org/10.1007/s10038-007-0181-yDOI Listing
November 2007

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

J Natl Cancer Inst 2005 Sep;97(17):1297-301

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Faculté de Médecine, Paris VII, Paris, France.

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http://dx.doi.org/10.1093/jnci/dji253DOI Listing
September 2005

[Patched/Sonic Hedgehog pathway and basal cell carcinoma].

Med Sci (Paris) 2004 Oct;20(10):899-903

Inserm U.532, Institut de recherche sur la peau, Hôpital Saint-Louis, 1, avenue Claude-Vellefaux, 75010 Paris, France.

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http://www.medecinesciences.org/10.1051/medsci/20042010899
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http://dx.doi.org/10.1051/medsci/20042010899DOI Listing
October 2004

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

Blood 2003 Sep 1;102(5):1904-10. Epub 2003 May 1.

INSERM U409, Faculte Xavier Bichat, 16 rue Henri Huchard, BP 416, 75870 Paris cedex 18, France.

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http://dx.doi.org/10.1182/blood-2003-02-0439DOI Listing
September 2003