Celia D. DeLozier : rechercher sur Z-Library

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1

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

Heleen van der Klift, Juul Wijnen, Anja Wagner, Paul Verkuilen, Carli Tops, Robyn Otway, Maija Kohonen-Corish, Hans Vasen, Cristina Oliani, Daniela Barana, Pal Moller, Celia DeLozier-Blanchet, Pierre

Journal:

Genes, Chromosomes and Cancer

Année:

2005

Langue:

english

Fichier:

PDF, 577 KB

english, 2005

2

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Rousseau, François, Heitz, Dominique, Biancalana, Valérie, Blumenfeld, Sandra, Kretz, Christine, Boué, Joëlle, Tommerup, Niels, Hagen, Carl Van Der, DeLozier-Blanchet, Célia, Croquette, Marie-François

Journal:

Boston Medical and Surgical Journal

Année:

1991

Langue:

english

Fichier:

PDF, 9.48 MB

english, 1991

3

Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum

Claudio Soravia, Heleen van der Klift, Marie-Anne Bründler, Jean-Louis Blouin, Juul Wijnen, Pierre Hutter, Riccardo Fodde, Célia Delozier-Blanchet

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 126 KB

english, 2003

4

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

Merete Bugge, Celia deLozier-Blanchet, Mads Bak, Carsten A. Brandt, Jens Michael Hertz, Jytte Bieber Nielsen, Laurance Duprez, Michael B. Petersen

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 54 KB

english, 2005

5

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region

Robert Lyle, Uppala Radhakrishna, Jean-Louis Blouin, Sarantis Gagos, David B. Everman, Corinne Gehrig, Celia Delozier-Blanchet, Jitendra V. Solanki, Uday C. Patel, Swapan K. Nath, Fiorella Gurrieri, G

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 449 KB

english, 2006

6

Brief report: Two sisters with Rett syndrome

Charles -A. Haenggeli, Jaime Moura-Serra, Celia D. DeLozier-Blanchet

Journal:

Journal of Autism and Developmental Disorders

Année:

1990

Langue:

english

Fichier:

PDF, 521 KB

english, 1990

7

Double frameshift mutations inAPCandMSH2in the same individual

Claudio Soravia, Celia D. DeLozier, Zuzana Dobbie, Claudine Rey Berthod, Eviano Arrigoni, Marie-Anne Bründler, Jean-Louis Blouin, William D. Foulkes, Pierre Hutter

Journal:

International Journal of Colorectal Disease

Année:

2005

Langue:

english

Fichier:

PDF, 92 KB

english, 2005

8

Double frameshift mutations in APC and MSH2 in the same individual

Claudio Soravia, Celia D. Delozier, Zuzana Dobbie, Claudine Rey Berthod, Eviano Arrigoni, Marie-Anne Bründler, Jean-Louis Blouin, William D. Foulkes, Pierre Hutter

Journal:

International Journal of Colorectal Disease

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

9

MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13

DeLozier-Blanchet, Célia D, Haenggeli, Charles-Antoine, Bottani, Armand

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 134 KB

english, 1999

10

Cytogenetic studies of human testicular germ cell tumours

CELIA D. DELOZIER-BLANCHET, H. WALT, E. ENGEL, P. VUAGNAT

Journal:

International Journal of Andrology

Année:

1987

Langue:

english

Fichier:

PDF, 1.25 MB

english, 1987

11

High incidence of ectopic nucleolar organizer regions in human testicular tumors

Marguerite Neerman-Arbez, Celia D. DeLozier-Blanchet, Jean-François Bolle, Raymond Rondez, Michael Morris

Journal:

Cancer Genetics and Cytogenetics

Année:

1993

Langue:

english

Fichier:

PDF, 521 KB

english, 1993

12

Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases

Danielle Wyss, Celia D. DeLozier, James Daniell, Eric Engel

Journal:

Clinical Genetics

Année:

1982

Langue:

english

Fichier:

PDF, 978 KB

english, 1982

13

A fourth case of ring chromosome 7

Célia D. DeLozier, Gérald Theintz, Pierre Sizonenko, Eric Engel

Journal:

Clinical Genetics

Année:

1982

Langue:

english

Fichier:

PDF, 607 KB

english, 1982

14

Cytogenetics of ring chromosome 7

Celia D. DeLozier-Blanchet, Rita Guenin

Journal:

Clinical Genetics

Année:

1984

Langue:

english

Fichier:

PDF, 131 KB

english, 1984

15

Prenatal Diagnosis of Collagen Disorders by Direct Biochemical Analysis of Chorionic Villus Biopsies

Raghunath, Michael, Steinmann, Beat, Delozier-Blanchet, Celia, Extermann, Philippe, Superti-Furga, Andrea

Journal:

Pediatric Research

Année:

1994

Langue:

english

Fichier:

PDF, 6.41 MB

english, 1994

16

DNAI1 Mutations Explain Only 2&percnt; of Primary Ciliary Dykinesia

Failly, Mike, Saitta, Alexandra, Mu&ntilde, oz, Analia, Falconnet, Emilie, Rossier, Colette, Santamaria, Francesca, de Santi, Maria Margherita, Lazor, Romain, DeLozier-Blanchet, Celia D., Bartoloni, Lu

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 245 KB

english, 2008

17

Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Reinstein, Eyal, DeLozier, Celia Dawn, Simon, Ziv, Bannykh, Serguei, Rimoin, David L, Curry, Cynthia J

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 873 KB

english, 2013

18

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

ROUSSEAU, FRANÇOIS, HEITZ, DOMINIQUE, BIANCALANA, VALÉRIE, BLUMENFELD, SANDRA, KRETZ, CHRISTINE, BOUÉ, JOELLE, TOMMERUP, NIELS, DER HAGEN, CARL VAN, DELOZIER-BLANCHET, CÉLIA, CROQUETTE, MARIE FRANÇOIS

Journal:

Obstetric and Gynecologic Survey

Année:

1992

Fichier:

PDF, 253 KB

1992

19

Syndromes and dysplasias, including metabolic bone disease

Kaelin, André J., DeLozier-Blanchet, Célia D.

Journal:

Current Opinion in Orthopaedics

Année:

1992

Fichier:

PDF, 598 KB

1992

20

A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer)

Zhu, Viola W., Hinduja, Sanjay, Knezevich, Stevan R., Silveira, William R., DeLozier, Celia D.

Journal:

Clinical Neurology and Neurosurgery

Année:

2017

Langue:

english

Fichier:

PDF, 492 KB

english, 2017

21

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

Ali, Mir, Delozier, Celia Dawn, Chaudhary, Uzair

Journal:

BMC Medical Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 817 KB

english, 2019

22

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

Ali, Mir, Delozier, Celia Dawn, Chaudhary, Uzair

Journal:

BMC Medical Genetics

Année:

2019

Fichier:

PDF, 817 KB

2019