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1

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

Lagarde, A., Rouleau, E., Ferrari, A., Noguchi, T., Qiu, J., Briaux, A., Bourdon, V., Remy, V., Gaildrat, P., Adelaide, J., Birnbaum, D., Lidereau, R., Sobol, H., Olschwang, S.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

2

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

Grandval, P., Fabre, A. J., Gaildrat, P., Baert-Desurmont, S., Buisine, M.-P., Ferrari, A., Wang, Q., Beroud, C., Olschwang, S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.09 MB

english, 2013

3

The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations

Grandval, Philippe, Blayau, Martine, Buisine, Marie-Pierre, Coulet, Florence, Maugard, Christine, Pinson, Stéphane, Remenieras, Audrey, Tinat, Julie, Uhrhammer, Nancy, Béroud, Christophe, Olschwang, S

Journal:

Year:

2014

Language:

english

File:

PDF, 452 KB

english, 2014

4

Actionable Genes, Core Databases and LOCUS Specific Databases (LSDBs)

Pinard, Amélie, Miltgen, Morgane, Blanchard, Arnaud, Mathieu, Hélène, Desvignes, Jean-Pierre, Fabre, Aurélie, Arnaud, Pauline, Barré, Laura, Krahn, Martin, Grandval, Philippe, Olschwang, Sylviane, Zaf

Journal:

Year:

2016

Language:

english

File:

PDF, 887 KB

english, 2016

5

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects

Isabelle Tournier, Myriam Vezain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert-Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg,

Journal:

Year:

2008

Language:

english

File:

PDF, 364 KB

english, 2008

6

Plantes médicinales africaines : XIX. Dosage de la vitexine par chromatographie liquide haute performance dans un extrait brut de Combretum micranthum G. Don

E. Bassene, A. Laurance, D. Olschwang, J.L. Pousset

Journal:

Journal of Chromatography A

Year:

1985

File:

PDF, 161 KB

1985

7

Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Results from a European Cooperative Study 1

Cetta, F., Montalto, G., Gori, M., Curia, M. C., Cama, A., Olschwang, S.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2000

Language:

english

File:

PDF, 462 KB

english, 2000

8

3??? Mutation of the APC Gene and Family History of FAP in a Patient With Apparently Sporadic Desmoid Tumors

Benoit, Laurent, Faivre, Laurence, Cheynel, Nicolas, Ortega-Deballon, Pablo, Facy, Olivier, Marty, Marion, Olschwang, Sophie, Fraisse, Jean, Cuisenier, Jean

Journal:

Journal of Clinical Gastroenterology

Year:

2007

Language:

english

File:

PDF, 154 KB

english, 2007

9

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome

Etienne Rouleau, Cédrick Lefol, Violaine Bourdon, Florence Coulet, Tetsuro Noguchi, Florent Soubrier, Ivan Bièche, Sylviane Olschwang, Hagay Sobol, Rosette Lidereau

Journal:

Year:

2009

Language:

english

File:

PDF, 427 KB

english, 2009

10

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

T Martin-Denavit, S Duthel, S Giraud, S Olschwang, JC Saurin, H Plauchu

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 1.78 MB

english, 2001

11

Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population

Sylviane Olschwang, Pierre Laurent-Puig, Anne Vassal, Rémy-J. Salmon, Gilles Thomas

Journal:

Year:

1991

Language:

english

File:

PDF, 207 KB

english, 1991

12

Hysteroscopic findings in women at risk of HNPCC. Results of a prospective observational study

Fabrice Lécuru, Ulrike Metzger, Catherine Scarabin, Marie Aude Le Frère Belda, Sylviane Olschwang, Pierre Laurent Puig

Journal:

Familial Cancer

Year:

2007

Language:

english

File:

PDF, 143 KB

english, 2007

13

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

Bonadona, V., Bonaiti, B., Olschwang, S., Grandjouan, S., Huiart, L., Longy, M., Guimbaud, R., Buecher, B., Bignon, Y.-J., Caron, O.

Journal:

JAMA The Journal of the American Medical Association

Year:

2011

Language:

english

File:

PDF, 201 KB

english, 2011

14

Cancer de l’endomètre du syndrome HNPCC: Actualisation des données

F. Lécuru, Y. Ansquer, A.-S. Bats, S. Olschwang, P. Laurent-Puig, F. Eisinger

Journal:

Journal de Gynécologie Obstétrique et Biologie de la Reproduction

Year:

2008

File:

PDF, 157 KB

2008

15

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients

Sylviane Olschwang, Anne Tiret, Pierre Laurent-Puig, Martine Muleris, Rolland Parc, Gilles Thomas

Journal:

Year:

1993

Language:

english

File:

PDF, 1.50 MB

english, 1993

16

Alleles of the APC gene: An attenuated form of familial polyposis

Lisa Spirio, Sylviane Olschwang, Joanna Groden, Margaret Robertson, Wade Samowitz, Geoff Joslyn, Lawrence Gelbert, Andrew Thliveris, Mary Carlson, Brith Otterud, Henry Lynch, Patrice Watson, Patrick L

Journal:

Year:

1993

Language:

english

File:

PDF, 877 KB

english, 1993

17

Relative frequency and morphology of cancers in STK11 mutation carriers

Wendy Lim, Sylviane Olschwang, Josbert J. Keller, Anne Marie Westerman, Fred H. Menko, Lisa A. Boardman, Rodney J. Scott, Jill Trimbath, Francis M. Giardiello, Stephen B. Gruber, Johan J.P. Gille, G.J

Journal:

Gastroenterology

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

18

La clusterine : un nouveau marqueur pour le diagnostic différentiel entre les tumeurs endocrines et les tumeurs solides et pseudopapillaires du pancréas

Mourra, N., Couvelard, A., Olschwang, S., Flejou, J.-F.

Journal:

Annales de Pathologie

Year:

2006

Language:

french

File:

PDF, 117 KB

french, 2006

19

Gastrectomie totale prophylactique chez 6 sujets porteurs de mutations germinales de CDH1 : présence constante de foyers d’adénocarcinome

Svrcek, M., Sezeur, A., Olschwang, S., Flejou, J.F., De Lajarte-Thirouard, A.S.

Journal:

Annales de Pathologie

Year:

2004

Language:

french

File:

PDF, 59 KB

french, 2004

20

Formes atypiques de neurofibromatose de type 2

Goutagny, S., Bouccara, D., Grayeli, A., Olschwang, S., Faillot, T., Redondo, A., Rey, A., Sterkers, O., Kalamarides, M.

Journal:

Year:

2005

Language:

french

File:

PDF, 101 KB

french, 2005

21

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Caspari, Reiner, Olschwang, Sylciane, Friedl, Waltraut, Mandl, Marion, Boisson, Cécile, Böker, Thorsten, Augustin, Albert, Kadmon, Martina, Möslein, Gabriela, Thomas, Gilles, Propping, Peter

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 347 KB

english, 1995

22

Similar Colorectal Cancer Risk in Patients with Monoallelic and Biallelic Mutations in the MYH Gene Identified in a Population with Adenomatous Polyposis

Olschwang, Sylviane, Blanché, Hélène, de Moncuit, Céline, Thomas, Gilles

Journal:

Genetic Testing

Year:

2007

Language:

english

File:

PDF, 150 KB

english, 2007

23

Prédisposition héréditaire au cancer colorectal et inactivation de la fonction de réparation des mésappariements de l'ADN

Olschwang, S., Eisinger, F.

Journal:

EMC - Gastro-entérologie

Year:

2006

Language:

french

File:

PDF, 191 KB

french, 2006

24

Association of p53 mutations with short survival in colorectal cancer

Hamelin, Richard, Laurent-Puig, Pierre, Olschwang, Sylviane, Jego, Nathalie, Asselain, Bernard, Remvikos, Yorghos, Girodet, Jacques, Salmon, Remi J., Thomas, Gilles

Journal:

Gastroenterology

Year:

1994

Language:

english

File:

PDF, 1.20 MB

english, 1994

25

Mastocytose cutanée maculopapuleuse métamérique

Maciejewski, M., Debarre, J.-M., Georgin-Lavialle, S., Kettani, S., Olschwang, S., Guérin-Moreau, M., Le Corre, Y., Martin, L.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2017

File:

PDF, 1.55 MB

2017

26

Étude des cancers coliques du sujet jeune

Selves, Janick, Olschwang, Sylviane

Journal:

médecine/sciences

Year:

2009

Language:

french

File:

PDF, 85 KB

french, 2009

27

Somatically acquired genetic alterations in flat colorectal neoplasias

Sylviane Olschwang, Premysl Slezak, Maud Roze, Edgar Jaramillo, Hiroshi Nakano, Koichi Koizumi, Carlos A. Rubio, Pierre Laurent-Puig, Gilles Thomas

Journal:

International Journal of Cancer

Year:

1998

Language:

english

File:

PDF, 385 KB

english, 1998

28

Somatically acquired genetic alterations in flat colorectal neoplasias. Int. J. Cancer77, 366–369 (1998).

S. Olschwang, P. Slezak, M. Roze, E. Jaramillo, H. Nakano, K. Koizumi, C. A. Rubio, P. Laurent-Puig, G. Thomas

Journal:

International Journal of Cancer

Year:

1998

File:

PDF, 33 KB

1998

29

Fine deletion mapping of chromosome 8p in non-small-cell lung carcinoma

Florence Lerebours, Sylviane Olschwang, Bénédicte Thuille, Annette Schmitz, Pierre Fouchet, Bruno Buecher, Nadine Martinet, Françoise Galateau, Gilles Thomas

Journal:

International Journal of Cancer

Year:

1999

Language:

english

File:

PDF, 180 KB

english, 1999

30

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma

Sylviane Olschwang, Stéphane Richard, Cécile Boisson, Sophie Giraud, Pierre Laurent-Puig, François Resche, Gilles Thomas

Journal:

Year:

1998

Language:

english

File:

PDF, 252 KB

english, 1998

31

Deletion mapping of the tumor suppressor locus involved in colorectal cancer on chromosome band 8p21

Florence Lerebours, Sylviane Olschwang, Bénédicte Thuille, Annette Schmitz, Pierre Fouchet, Pierre Laurent-Puig, Françoise Boman, Jean-François Fléjou, Geneviève Monges, François Paraf, Pierre Bedossa

Journal:

Genes, Chromosomes and Cancer

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

32

High resolution genetic map of the adenomatous polyposis coli gene (APC) region

Sylviane Olschwang, Pierre Laurent-Puig, Thomas Melot, Bénédicte Thuille, Dr. Gilles Thomas

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 833 KB

english, 1995

33

Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients

Herma H. Fidder, Sylviane Olschwang, Benjamin Avidan, Habib Zouali, Alon Lang, Eytan Bardan, Orit Picard, Simon Bar-Meir, Jean Frederic Colombel, Yehuda Chowers

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

34

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis

Adriana Handra-Luca, Christel Condroyer, Céline de Moncuit, Maryline Tepper, Jean-François Fléjou, Gilles Thomas, Sylviane Olschwang

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 139 KB

english, 2005

35

Retention of chromosome arm 5q in stage II colon cancers identifies 83% of liver metastasis occurrences

Guy Zeitoun, Bruno Buecher, Jan Bayer, Marie-Laure Tanguy, Gilles Thomas, Sylviane Olschwang

Journal:

Genes, Chromosomes and Cancer

Year:

2006

Language:

english

File:

PDF, 248 KB

english, 2006

36

Predominance of normal karyotype in colorectal tumors from hereditary non-polyposis colorectal cancer patients

Martine Muleris, Anne Marie Dutrillaux, Sylviane Olschwang, Remy Jacques Salmon, Bernard Dutrillaux

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 351 KB

english, 1995

37

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method

Isabelle Tournier, Grégory Raux, Fréderic Di Fiore, Isabelle Maréchal, Carole Leclerc, Cosette Martin, Qing Wang, Marie-Pierre Buisine, Dominique Stoppa-Lyonnet, Sylviane Olschwang, Thierry Frébourg,

Journal:

Year:

2004

Language:

english

File:

PDF, 215 KB

english, 2004

38

Genotype–phenotype correlation in von Hippel-Lindau families with renal lesions

Catherine Gallou, Dominique Chauveau, Stéphane Richard, Dominique Joly, Sophie Giraud, Sylviane Olschwang, Natacha Martin, Céline Saquet, Yves Chrétien, Arnaud Méjean, Jean-Michel Correas, Gérard Beno

Journal:

Year:

2004

Language:

english

File:

PDF, 282 KB

english, 2004

39

Genotype–phenotype correlation in von Hippel-Lindau families with renal lesions

Catherine Gallou, Dominique Chauveau, Stéphane Richard, Dominique Joly, Sophie Giraud, Sylviane Olschwang, Natacha Martin, Céline Saquet, Yves Chrétien, Arnaud Méjean, Jean-Michel Correas, Gérard Beno

Journal:

Year:

2004

Language:

english

File:

PDF, 141 KB

english, 2004

40

The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

Françoise Charbonnier, Stephanie Baert-Desurmont, Ping Liang, Frederic Di Fiore, Cosette Martin, Stephanie Frerot, Sylviane Olschwang, Qing Wang, Marie-Pierre Buisine, Brigitte Gilbert, Mef Nilbert, A

Journal:

Year:

2005

Language:

english

File:

PDF, 700 KB

english, 2005

41

The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome

JingHua Qiu, Pierre Hutter, Nils Rahner, Simon Patton, Sylviane Olschwang

Journal:

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

42

Preservation of chromosome and DNA characteristics of human colorectal adenocarcinomas after passage in nude mice

Danielle Lefrançois, Sylviane Olschwang, Olivier Delattre, Martine Muleris, Anne-Marie Dutrillaux, Gilles Thomas, Bernard Dutrillaux

Journal:

International Journal of Cancer

Year:

1989

Language:

english

File:

PDF, 1.28 MB

english, 1989

43

Association of ki-ras mutation with differentiation and tumor-formation pathways in colorectal carcinoma

P. Laurent-Puig, S. Olschwang, O. Delattre, P. Validire, T. Melot, V. Mosseri, R. J. Salmon, G. Thomas

Journal:

International Journal of Cancer

Year:

1991

Language:

english

File:

PDF, 549 KB

english, 1991

44

Y253H mutation appearing in a μ-BCR-ABL (e19a2) CML

Cornel Popovici, Aude Charbonnier, Olivier Gisserot, Philippe Aguilon, Virginie Rémy, Sylviane Olschwang, Marie-Joëlle Mozziconacci

Journal:

Leukemia Research

Year:

2008

Language:

english

File:

PDF, 74 KB

english, 2008

45

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

Guillaume Rousseau, Tetsuro Noguchi, Violaine Bourdon, Hagay Sobol, Sylviane Olschwang

Journal:

Year:

2011

Language:

english

File:

PDF, 178 KB

english, 2011

46

Frequent polymorphism in the 13th exon of the adenomatous polyposis coli gene

S. Olschwang, P. Laurent-Puig, B. Thuille, G. Thomas

Journal:

Year:

1992

Language:

english

File:

PDF, 406 KB

english, 1992

47

Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region

Sylviane Olschwang, Richard Fabre, Pierre Laurent-Puig, Anne Vassal, Bernard Hamelin, Yusuke Nakamura, Gilles Thomas

Journal:

Year:

1992

Language:

english

File:

PDF, 309 KB

english, 1992

48

L’oncogénétique en Gastroentérologie

Sylviane Olschwang

Journal:

Bio Tribune Magazine

Year:

2003

File:

PDF, 695 KB

2003

49

Genetic Alterations in Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Clinical Implications and Suggestions for Early Detection

Francesco Cetta, Sylviane Olschwang, Margherita Petracci, Giulia Montalto, Claudio Baldi, Michele Zuckermann, Renato Mariani Costantini, Alfredo Fusco

Journal:

World Journal of Surgery

Year:

1998

Language:

english

File:

PDF, 190 KB

english, 1998

50

Tissue microarray technology: validation in colorectal carcinoma and analysis of p53, hMLH1, and hMSH2 immunohistochemical expression

Florence Jourdan, Nicole Sebbagh, Eva Comperat, Najat Mourra, Antoine Flahault, Sylviane Olschwang, Alex Duval, Richard Hamelin, Jean-François Flejou

Journal:

Virchows Archiv

Year:

2003

Language:

english

File:

PDF, 382 KB

english, 2003