Turleau, Catherine: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Monosomy 18p

Catherine Turleau

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 687 KB

english, 2008

2

Distal Xq duplication and functional Xq disomy

Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 775 KB

english, 2009

3

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome

Briault, Sylvain, Odent, Sylvie, Lucas, Josette, Le Merrer, Martine, Turleau, Catherine, Munnich, Arnold, Moraine, Claude

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 158 KB

english, 1999

4

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

Faivre, Laurence, Viot, G�raldine, Prieur, Marguerite, Turleau, Catherine, Gosset, Philippe, Romana, Serge, Munnich, Arnold, Vekemans, Michel, Cormier-Daire, Val�rie

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 206 KB

english, 2000

5

Multibranched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability, and facial anomalies

Catherine Turleau, Marie-Odile Cabanis, Danièle Girault, Françoise Ledeist, René Mettey, Hugues Puissant, Marguerite Prieur, Dr. Jean De Grouchy

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 494 KB

english, 1989

6

Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X

Hubert Journal, Judith Melki, Catherine Turleau, Arnold Munnich, Jean de Grouchy

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 459 KB

english, 1990

7

Molecular detection of constitutional deletions in patients with retinoblastoma

Véronique Blanquet, Nicole Créau-Goldberg, Jean De Grouchy, Catherine Turleau

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 638 KB

english, 1991

8

Parental origin of the X chromosomes in rett syndrome

Laure Benedetti, Arnold Munnich, Dr. Judith Melki, Marc Tardieu, Catherine Turleau

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 119 KB

english, 1992

9

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

Azarnouche Ardalan, Marguerite Prieur, Agnès Choiset, Catherine Turleau, Françoise Goutieres, Sylvie Girard-Orgeolet

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 222 KB

english, 2005

10

De novo trisomy 20p of paternal origin

Myriam Chaabouni, Catherine Turleau, Lotfi Karboul, Lamia Ben Jemaa, Faouzi Maazoul, Tania Attié-Bitach, Serge Romana, Habiba Chaabouni

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 171 KB

english, 2007

11

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

Nadia Boutry-Kryza, Audrey Labalme, Marianne Till, Caroline Schluth-Bolard, Jacques Langue, Catherine Turleau, Patrick Edery, Damien Sanlaville

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 170 KB

english, 2012

12

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

Olivier Baud, Valérie Cormier-Daire, Stanislas Lyonnet, Laurence Desjardins, Catherine Turleau, François Doz

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 269 KB

english, 1999

13

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

Nicole Créau-Goldberg, Anne Gegonne, Jean Delabar, Chantal Cochet, Marie-Odile Cabanis, Dominique Stehelin, Catherine Turleau, Jean Grouchy

Journal:

Year:

1987

Language:

english

File:

PDF, 347 KB

english, 1987

14

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases

Catherine Turleau, Jean Grouchy, Françoise Chavin-Colin, Hélène Martelli, Marcel Voyer, Robert Charlas

Journal:

Year:

1984

Language:

english

File:

PDF, 794 KB

english, 1984

15

Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome

Catherine Turleau, Patrick Niaudet, Charles Sultan, Gilles Rault, Abdelmoutaleb Mahfound, Claire Nihoul-Fekete, Lucien Iris, Jean Grouchy

Journal:

Year:

1987

Language:

english

File:

PDF, 1.05 MB

english, 1987

16

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13

Catherine Turleau, J. Grouchy, J. L. Dufier, Phuc Hoang, P. H. Schmelck, R. Rappaport, Claire Nihoul-Fékété, Nicole Diebold

Journal:

Year:

1981

Language:

english

File:

PDF, 1.98 MB

english, 1981

17

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma

Isabelle Henry, Marc Jeanpierre, Philippe Couillin, Fernande Barichard, Jean-Louis Serre, Hubert Journel, Annie Lamouroux, Catherine Turleau, Jean Grouchy, Claudine Junien

Journal:

Year:

1989

Language:

english

File:

PDF, 538 KB

english, 1989

18

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1

Catherine Turleau, F. Taillard, Mireille Doussau de Bazignan, Nicole Delépine, J. C. Desbois, J. Grouchy

Journal:

Year:

1986

Language:

english

File:

PDF, 319 KB

english, 1986

19

De novo t(2;13)(p24.3;q14.2) and retinoblastoma

Yéronique Blanquet, Catherine Turleau, Nicole Créau-Goldberg, Chantal Cochet, J. Grouchy

Journal:

Year:

1987

Language:

english

File:

PDF, 971 KB

english, 1987

20

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)

J. M. Delabar, P. M. Sinet, Bernadette Chadefaux, Annie Nicole, Anne Gegonne, D. Stehelin, Françoise Fridlansky, Nicole Créau-Goldberg, Catherine Turleau, J. Grouchy

Journal:

Year:

1987

Language:

english

File:

PDF, 1.11 MB

english, 1987

21

Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D

Horacio Rivera, Catherine Turleau, Jean Grouchy, Claudine Junien, Suzy Despoisse, Jean-Michel Zucker

Journal:

Year:

1981

Language:

english

File:

PDF, 923 KB

english, 1981

22

Localisation of the humanABO: Np-1: AK-1linkage group by regional assignment of AK-1 to 9q34

M. A. Ferguson-Smith, D. A. Aitken, Catherine Turleau, J. Grouchy

Journal:

Year:

1976

Language:

english

File:

PDF, 732 KB

english, 1976

23

New observations on the human and chimpanzee karyotypes

Catherine Turleau, J. de Grouchy

Journal:

Year:

1973

Language:

english

File:

PDF, 1.25 MB

english, 1973

24

Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8

J. Grouchy, Marie-Dominique Dautzenberg, Catherine Turleau, Suzette Beguin, Françoise Chavin-Colin

Journal:

Year:

1984

Language:

english

File:

PDF, 719 KB

english, 1984

25

A 45,X male with translocation of euchromatic Y chromosome material

Catherine Turleau, Françoise Chavin-Colin, J. Grouchy

Journal:

Year:

1980

Language:

english

File:

PDF, 938 KB

english, 1980

26

Gene mapping of the gibbon. Its position in primate evolution

Catherine Turleau, Nicole Créau-Goldberg, Chantal Cochet, J. Grouchy

Journal:

Year:

1983

Language:

english

File:

PDF, 1.06 MB

english, 1983

27

Del11p13/nephroblastoma without aniridia

Catherine Turleau, J. Grouchy, Claire Nihoul-Fékété, J. L. Dufier, Françoise Chavin-Colin, Claudine Junien

Journal:

Year:

1984

Language:

english

File:

PDF, 236 KB

english, 1984

28

Conservation of the human COL1A1-TK-GAA synteny and homoeologous assignment in the African green monkey and the baboon (Cercopithecoidae)

Nicole Créau-Goldberg, Catherine Turleau, Chantal Cochet, Cécile Huerre, Claudine Junien, Jean Grouchy

Journal:

Year:

1984

Language:

english

File:

PDF, 684 KB

english, 1984

29

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

Catherine Turleau, Françoise Chavin-Colin, J. Grouchy, G. Repessé, P. Beauvais

Journal:

Year:

1977

Language:

english

File:

PDF, 415 KB

english, 1977

30

Partial trisomy 9q: A new syndrome

Catherine Turleau, J. Grouchy, Françoise Chavin-Colin, Michelle Roubin, P. E. Brissaud, G. Repessé, Anne Safar, P. Borniche

Journal:

Year:

1975

Language:

english

File:

PDF, 535 KB

english, 1975

31

Monosomy 10 qter

Catherine Turleau, J. Grouchy, G. Ponsot, D. Bouygues

Journal:

Year:

1979

Language:

english

File:

PDF, 224 KB

english, 1979

32

Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23

Catherine Turleau, Françoise Chavin-Colin, J. Grouchy, P. Maroteaux, H. Rivera

Journal:

Year:

1982

Language:

english

File:

PDF, 1.78 MB

english, 1982

33

Regional mapping to 4q32.1 by in situ hybridization of a DNA domain rearranged in human liver cancer

Véronique Blanquet, Floriane Garreau, X. Chenivesse, C. Brechot, Catherine Turleau

Journal:

Year:

1988

Language:

english

File:

PDF, 278 KB

english, 1988

34

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation

Marlène Rio, Catherine Ozilou, Valérie Cormier-Daire, Catherine Turleau, Marguerite Prieur, Michel Vekemans, Pierre Chauveau, Arnold Munnich, Laurence Colleaux

Journal:

Year:

2001

Language:

english

File:

PDF, 88 KB

english, 2001

35

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Malan, Valérie, Chevallier, Suzanne, Soler, Gwendoline, Coubes, Christine, Lacombe, Didier, Pasquier, Laurent, Soulier, Jean, Morichon-Delvallez, Nicole, Turleau, Catherine, Munnich, Arnold

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 345 KB

english, 2009

36

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 395 KB

english, 2009

37

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Colleaux, Laurence, Rio, Marlène, Heuertz, Solange, Moindrault, Séverine, Turleau, Catherine, Ozilou, Catherine, Gosset, Philippe, Raoult, Odile, Lyonnet, Stanislas, Cormier-Daire, Valérie

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 314 KB

english, 2001

38

In memoriam : Jean de Grouchy, 1926–2003

Catherine Turleau

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

39

6q1 monosomy: a distinctive syndrome

Catherine Turleau, Gérard Demay, Marie-Odille Cabanis, Gérard Lenoir, Jean de Grouchy

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

40

X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female

Catherine Turleau, P. Niaudet, Marie-Odile Cabanis, Ghislaine Plessis, D. Cau, J. de Grouchy

Journal:

Clinical Genetics

Year:

1989

Language:

english

File:

PDF, 463 KB

english, 1989

41

Parental origin and mechanisms of formation of three eases of 12p tetrasomy

Catherine Turleau, Brigitte Simon-Bouy, Estelle Austruy, Marie-Claude Grisard, Françoise Lemaire, Denise Molina-Gomes, Jean-Pierre Siffroi, Joëlle Boué

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 627 KB

english, 1996

42

Molecular karyotyping in human constitutional cytogenetics

Damien Sanlaville, Jean-Michel Lapierre, Catherine Turleau, Aurélie Coquin, Guntram Borck, Laurence Colleaux, Michel Vekemans, Serge Pierrick Romana

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 261 KB

english, 2005

43

Retinoblastoma, deletion 13q14, and esterase D: Application of gene dosage effect to prenatal diagnosis

Claudine Junien, Suzy Despoisse, Catherine Turleau, Henriette Nicolas, François Picard, Bernard Le Marec, Jean-Claude Kaplan, Jean de Grouchy

Journal:

Cancer Genetics and Cytogenetics

Year:

1982

Language:

english

File:

PDF, 531 KB

english, 1982

44

Cytogenetic forms of retinoblastoma: Their incidence in a survey of 66 patients

Catherine Turleau, Jean de Grouchy, Françoise Chavin-Colin, Claudine Junien, Jeanine Séger, Pierre Schlienger, Antoine Leblanc, Christian Haye

Journal:

Cancer Genetics and Cytogenetics

Year:

1985

Language:

english

File:

PDF, 618 KB

english, 1985

45

Trisomy 9q - a new syndrome

Catherine Turleau, Jean de Grouchy

Journal:

Clinical Genetics

Year:

1975

Language:

english

File:

PDF, 55 KB

english, 1975

46

Trisomy 18qter and trisomy mapping of chromosome 18

Catherine Turleau, Jean de Grouchy

Journal:

Clinical Genetics

Year:

1977

Language:

english

File:

PDF, 806 KB

english, 1977

47

Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature

Catherine Turleau, Jean de Grouchy, Marie-France Tournade, Marie-France Gagnadoux, Claudine Junien

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 501 KB

english, 1984

48

Assignment of a human cyclin A gene to 4q26–q27

Blanquet, Véronique, Wang, Jian, Chenivesse, Xavier, Henglein, Berthold, Garreau, Floriane, Bréchot, Christian, Turleau, Catherine

Journal:

Year:

1990

Language:

english

File:

PDF, 1.14 MB

english, 1990

49

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients

Plougastel, Béatrice, Couillin, Philippe, Blanquet, Véronique, Guern, Eric Le, Bakker, Egbert, Turleau, Catherine, de Grouchy, Jean, Créau-Goldberg, Nicole

Journal:

Year:

1992

Language:

english

File:

PDF, 658 KB

english, 1992

50

Assignment of the human recombination activating gene 1 (RAG1) to the 14q21.3–q22.2 region

Blanquet, Véronique, Turleau, Catherine, Goossens, Michel, Besmond, Claude

Journal:

Year:

1992

Language:

english

File:

PDF, 1.71 MB

english, 1992