D. Delozier-Blanchet: search on 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

Year:

2005

Language:

english

File:

PDF, 577 KB

english, 2005

2

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

P. Hutter, C. Rey-Berthod, P.O. Chappuis, A. Couturier, V. Membrez, A. Murphy, F. Joris, D. F. Schorderet, C. Delozier-Blanchet, C. Soravia

Journal:

Year:

2001

Language:

english

File:

PDF, 44 KB

english, 2001

3

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

Year:

1991

Language:

english

File:

PDF, 9.48 MB

english, 1991

4

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

Failly, M, Bartoloni, L, Letourneau, A, Munoz, A, Falconnet, E, Rossier, C, de Santi, M M, Santamaria, F, Sacco, O, DeLozier-Blanchet, C D, Lazor, R, Blouin, J-L

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 402 KB

english, 2009

5

Cutaneous Findings in Ring Chromosome 7 Syndrome

Rotern, Vollenweider, Masouyé, I., Delozier-Blanchet, C.D., Saurat, J.-H.

Journal:

Year:

1993

Language:

english

File:

PDF, 600 KB

english, 1993

6

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

Eliez, Stephan, Morris, Michael A., Dahoun-Hadorn, Sophie, DeLozier-Blanchet, C. Dawn, Gos, Arnaud, Sizonenko, Pierre, Antonarakis, Stylianos E.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 351 KB

english, 1997

7

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

C. Dawn DeLozier-Blanchet, Elizabeth Roeder, Riccardo Denis-Arrue, Jean-Louis Blouin, Jackie Low, Jamie Fisher, David Scharnhorst, Cynthia J. Curry

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 252 KB

english, 2000

8

A human testicular germ cell tumor with borderline histology between seminoma and embryonal carcinoma secreted beta-human chorionic gonadotropin and alpha-fetoprotein only as a xenograft

Heinrich Walt, Stefan Arrenbrecht, C. Dawn Delozier-Blanchet, Paul J. Keller, Renate Nauer, Christoph E. Hedinger

Journal:

Year:

1986

Language:

english

File:

PDF, 953 KB

english, 1986

9

Differences between subcutaneous and intraperitoneal forms of three human testicular teratocarcinomas in nude mice

Michel Niederberger, Christoph E. Hedinger, Heinrich Walt, C. Dawn Delozier-Blanchet

Journal:

Year:

1988

Language:

english

File:

PDF, 1.02 MB

english, 1988

10

Lethal multiple pterygium syndrome: Report of a new case with hydranencephaly

A. Mbakop, J. N. Cox, C. Störmann, C. D. Delozier-Blanchet, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 310 KB

english, 1986

11

Antley-Bixler syndrome from a prognostic perspective

C. Dawn DeLozier-Blanchet, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 194 KB

english, 1989

12

Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

Professor Eric Engel, C. Dawn DeLozier-Blanchet

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 1001 KB

english, 1991

13

Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma

Dr. C. D. Delozier-Blanchet, I. Masouyé, S. Vollenweider

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 162 KB

english, 1992

14

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

A. Bottani, W. P. Robinson, C. D. Delozier-Blanchet, E. Engel, M. A. Morris, B. Schmitt, L. Thun-Hohenstein, A. Schinzel

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 604 KB

english, 1994

15

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

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

16

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

Year:

2005

Language:

english

File:

PDF, 54 KB

english, 2005

17

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

Year:

2006

Language:

english

File:

PDF, 449 KB

english, 2006

18

Trisomy 7 in chorionic villi: Follow-up studies of pregnancy, normal child, and placental clonal anomalies

Dr. C. Dawn DeLozier-Blanchet, Eric Engel, Philippe Extermann, Béatrice Pastori

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 414 KB

english, 1988

19

Chromosomal damage in lymphocytes and fibroblasts of patients treated for testicular cancer

C. D. DeLozier-Blanchet

Journal:

Year:

1990

Language:

english

File:

PDF, 155 KB

english, 1990

20

Brief report: Two sisters with Rett syndrome

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

Journal:

Journal of Autism and Developmental Disorders

Year:

1990

Language:

english

File:

PDF, 521 KB

english, 1990

21

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

Year:

1999

Language:

english

File:

PDF, 134 KB

english, 1999

22

Cytogenetic studies of human testicular germ cell tumours

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

Journal:

International Journal of Andrology

Year:

1987

Language:

english

File:

PDF, 1.25 MB

english, 1987

23

Possible localization of a major gene for cleft lip and palate to 4q

S. Beiraghi, T. Foroud, S. Diouhy, D. Bixler, P. M. Conneally, D. Delozier-Blanchet, M. E. Hodes

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 177 KB

english, 1994

24

Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling

C. D. DeLozier-Blanchet, L. Francipane, M. A. Morris, J. M. N. Hoovers, N. J. Leschot, J. N. Cox

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 457 KB

english, 1995

25

Aspects génétiques et cytogénétiques

C Delozier-Blanchet, M Vekemans

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 176 KB

1996

26

Cytogenetic discrepancies between fetus and placenta: A frequent cause of reproductive pathologies?

C. DeLozier-Blanchet, L. Francipane, J. Ebener, J. Cox, P. Extermann

Journal:

Year:

1993

Language:

english

File:

PDF, 86 KB

english, 1993

27

Mosaïque chromosomique et retard de croissance intra-utérin

C DeLozier-Blanchet, M Vekemans

Journal:

Archives de Pédiatrie

Year:

1997

File:

PDF, 269 KB

1997

28

Translocation 2;11 and other significant chromosome changes in acute monoblastic leukemia (M5) with clonal evolution: Sequential clinical and cytogenetic studies

C.Dawn DeLozier-Blanchet, Christine Cabrol, Christiane Werner-Favre, Photis Beris, Eric Engel

Journal:

Cancer Genetics and Cytogenetics

Year:

1985

Language:

english

File:

PDF, 509 KB

english, 1985

29

Isochromosome 12p in malignant testicular tumors

C.Dawn Delozier-Blanchet, Eric Engel, Heinrich Walt

Journal:

Cancer Genetics and Cytogenetics

Year:

1985

Language:

english

File:

PDF, 113 KB

english, 1985

30

Cytogenetic studies of testicular germ cell tumors and tumor cell lines

C.D. DeLozier-Blanchet, H. Walt, M.-C. Hofmann, E. Engel

Journal:

Cancer Genetics and Cytogenetics

Year:

1989

Language:

english

File:

PDF, 95 KB

english, 1989

31

Cytogenetic and molecular studies of NORs in testicular tumours.

M. Neerman, M. Morris, C.D. DeLozier-Blanchet

Journal:

Cancer Genetics and Cytogenetics

Year:

1991

Language:

english

File:

PDF, 52 KB

english, 1991

32

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

Year:

1993

Language:

english

File:

PDF, 521 KB

english, 1993

33

Cytogenetics of ring chromosome 7

Celia D. DeLozier-Blanchet, Rita Guenin

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 131 KB

english, 1984

34

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

Year:

1994

Language:

english

File:

PDF, 6.41 MB

english, 1994

35

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.

Xiang, F, Zhang, Z, Clarke, A, Joseluiz, P, Sakkubai, N, Sarojini, B, Delozier-Blanchet, C D, Hansmann, I, Edstrom, L, Anvret, M

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 587 KB

english, 1998

36

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

Hutter, Pierre, E.Antonarakis, Stylianos, Delozier-Blanchet, Célla D., Morris, Michael A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.88 MB

english, 1994

37

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

Hutter, P, Couturier, A, Scott, R J, Alday, P, Delozier-Blanchet, C, Cachat, F, Antonarakis, S E, Joris, F, Gaudin, M, D'Amato, L, Buerstedde, J M

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.29 MB

english, 1996

38

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Bartoloni, L., Blouin, J.-L., Pan, Y., Gehrig, C., Maiti, A. K., Scamuffa, N., Rossier, C., Jorissen, M., Armengot, M., Meeks, M., Mitchison, H. M., Chung, E. M. K., Delozier-Blanchet, C. D., Craigen,

Journal:

Proceedings of the National Academy of Sciences

Year:

2002

Language:

english

File:

PDF, 309 KB

english, 2002

39

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Sidransky, E, Tayebi, N, Stubblefield, B K, Eliason, W, Klineburgess, A, Pizzolato, G P, Cox, J N, Porta, J, Bottani, A, DeLozier-Blanchet, C D

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.73 MB

english, 1996

40

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)

Maiti, A.K., Bartoloni, L., Mitchison, H.M., Meeks, M., Chung, E., Spiden, S., Gehrig, C., Rossier, C., DeLozier-Blanchet, C.D., Blouin, J.-L., Gardiner, R.M., Antonarakis, S.E.

Journal:

Cytogenetic and Genome Research

Year:

2000

Language:

english

File:

PDF, 197 KB

english, 2000

41

Assignment1 of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

Bartoloni, L., Blouin, J.-L.C., Sainsbury, A.J., Gos, A., Morris, M.A., Affara, N.A., DeLozier-Blanchet, C.D., Antonarakis, S.E.

Journal:

Cytogenetic and Genome Research

Year:

1999

Language:

english

File:

PDF, 231 KB

english, 1999

42

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:

Year:

2008

Language:

english

File:

PDF, 245 KB

english, 2008

43

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

Year:

1992

File:

PDF, 253 KB

1992

44

Syndromes and dysplasias, including metabolic bone disease

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

Journal:

Current Opinion in Orthopaedics

Year:

1992

File:

PDF, 598 KB

1992

45

Primary Ciliary Dyskinesia: A search for the responsible genes through linkage and candidate gene approaches

Delozier-Blanchet, C D, Bartoloni, L, Gehriq, C, Radhakrishna, U, Meeks, M, Duriaux-Sail, G, Maiti, A, Guerne, P A, Walt, H, Gardiner, R M, Antonarakis, S E, Blouin, J L

Journal:

Genetics in Medicine

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

46

Ectopic nucleolus organizer regions (NORs) in human testicular tumors

DeLozier-Blanchet, C.D, Walt, H., Engel, E.

Journal:

Cytogenetic and Genome Research

Year:

1986

Language:

english

File:

PDF, 1.36 MB

english, 1986