Siffroi, J P: search on Z-Library

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1

Polymorphisme du gène du récepteur des androgènes: recherche de mosaïques tissulaires et relation avec l'infertilité masculine

C. Ravel, J. P. Siffroi, M. Neves, E. Vendrely, J. P. Dadoune

Journal:

Year:

2002

File:

PDF, 528 KB

2002

2

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

Capucine Hyon, Sandrine Marlin, Sandra Chantot-Bastaraud, Philippe Mabboux, Marie-Paule Beaujard, Essam Al Ageeli, Marie-Paule Vazquez, Arnaud Picard, Jean-Pierre Siffroi, Marie-France Portnoï

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 933 KB

english, 2011

3

Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts

Debbie Montjean, Moncef Benkhalifa, Lionel Dessolle, Paul Cohen-Bacrie, Stéphanie Belloc, Jean-Pierre Siffroi, Célia Ravel, Anu Bashamboo, Kenneth McElreavey

Journal:

Fertility and Sterility

Year:

2011

Language:

english

File:

PDF, 266 KB

english, 2011

4

L’avenir de la cytogénétique après le séquencage du génome humain

Siffroi, J.-P., Chantot-Bastaraud, S.

Journal:

Year:

2004

Language:

french

File:

PDF, 273 KB

french, 2004

5

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, J

Journal:

Molecular Autism

Year:

2015

Language:

english

File:

PDF, 2.01 MB

english, 2015

6

Infertilités masculines

Ravel, C., Berthaut, I., Siffroi, J.-P.

Journal:

EMC - Endocrinologie - Nutrition

Year:

2009

Language:

french

File:

PDF, 865 KB

french, 2009

7

Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma

Bourcigaux, N, Rubino, C, Berthaud, I, Toubert, M E, Donadille, B, Leenhardt, L, Petrot-Keller, I, Brailly-Tabard, S, Fromigué, J, de Vathaire, F, Simon, T, Siffroi, J P, Schlumberger, M, Bouchard, P,

Journal:

Human Reproduction

Year:

2018

Language:

english

File:

PDF, 407 KB

english, 2018

8

Apport de la FISH sur frottis buccal dans le diagnostic et la prise en charge des patientes avec un syndrome de Turner

Graff, A., Donadille, B., Morel, H., Villy, M.C., Bourcigaux, N., Vatier, C., Borgel, A., Khodawardi, A., Siffroi, J.P., Christin-Maitre, S.

Journal:

Annales d'Endocrinologie

Year:

2020

File:

PDF, 235 KB

2020

9

Acrocentric chromosome polymorphisms: beware of cryptic translocations

Brigitte Benzacken, Frédérique Monier-Gavelle, Jean Pierre Siffroi, Placide Agbo, Arnaud Chalvon, Jean Philippe Wolf

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 95 KB

english, 2001

10

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

Nicolas Gruchy, Marie-Line Jacquemont, Stanislas Lyonnet, Philippe Labrune, Imen El Kamel, Jean-Pierre Siffroi, Marie-France Portnoï

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 248 KB

english, 2007

11

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis

S. Marlin, H. Ducou Le Pointe, M. Le Merrer, M.F. Portnoi, S. Chantot, L. Jonard, A. Mantel-Guiochon, J.P. Siffroi, E.N. Garabedian, F. Denoyelle

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 114 KB

english, 2010

12

Sequestration of connexin43 in the early endosomes: An early event of Leydig cell tumor progression

Dominique Segretain, Xavier Decrouy, Jim Dompierre, Denise Escalier, Nafis Rahman, Céline Fiorini, Baharia Mograbi, Jean-Pierre Siffroi, Ilpo Huhtaniemi, Patrick Fenichel, Georges Pointis

Journal:

Molecular Carcinogenesis

Year:

2003

Language:

english

File:

PDF, 571 KB

english, 2003

13

Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH)

B. Benzacken, JM Lapierre, JP Siffroi, A. Chalvon, G. Tachdjian

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.48 MB

english, 1998

14

Co-localization of HP1 and TP1 transcripts in human spermatids by double electron microscopy in situ hybridization

Siffroi, Alfonsi, Dadoune

Journal:

International Journal of Andrology

Year:

1999

Language:

english

File:

PDF, 463 KB

english, 1999

15

Association of the thyrotropin receptor with calnexin, calreticulin and BiP : Effects on the maturation of the receptor

Sandrine Siffroi-Fernandez, Annie Giraud, Jeanne Lanet, Jean-Louis Franc

Journal:

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

16

Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin?

Lieve Verstraete, Jean-Marc Costa, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Olivia Fiori, Serge Uzan, Nadia Berkane

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 76 KB

english, 2007

17

Prenatal diagnosis of partial 2p trisomy by ‘de novo’ duplication 2p (13.1 → 21). Confirmation by FISH

J. P. Siffroi, D. Molina-Gomez, F. Viguie, C. Nessmann, J. P. Dadoune

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 286 KB

english, 1994

18

The fetal phenotype of partial 2q trisomy

J. P. Siffroi, D. Molina Gomes, J. Roume

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 424 KB

english, 1995

19

Structural chromosomal mosaicism and prenatal diagnosis

E. Pipiras, C. Dupont, S. Chantot-Bastaraud, J. P. Siffroi, M. Bucourt, A. Batallan, C. Largillière, M. Uzan, J. P. Wolf, B. Benzacken

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

20

Génétique de l’infertilité chez l’homme, nouvelles approches

Marc Fellous, Jean-Pierre Siffroi

Journal:

Year:

2003

File:

PDF, 1.06 MB

2003

21

Syndrome de klinefelter et conseil génétique

Journal:

Year:

2001

Language:

french

File:

PDF, 534 KB

french, 2001

22

Mutations du gène de la polymérase gamma de l’ADN mitochondrial (POLG) associées

Isabelle Esther Aknin-Seifer, Renaud -Laurian Touraine, Jean -Pierre Siffroi, Clément Jimenez, Hervé Lejeune, Thierry Bienvenu, Catherine Patrat, Jacques Chouteau, Ken McElreavey, Rachel Levy

Journal:

Year:

2004

File:

PDF, 476 KB

2004

23

Eutopic endometrium and peritoneal, ovarian and bowel endometriotic tissues express a different profile of matrix metalloproteinases-2, -3 and -11, and of tissue inhibitor metalloproteinases-1 and -2

Catherine Uzan, Annie Cortez, Charlotte Dufournet, Raffaèle Fauvet, Jean-Pierre Siffroi, Emile Daraï

Journal:

Virchows Archiv

Year:

2004

Language:

english

File:

PDF, 364 KB

english, 2004

24

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

Nathalie Rives, Célia Ravel, Véronique Duchesne, Jean-Pierre Siffroi, Nathalie Mousset-Siméon, Bertrand Macé

Journal:

Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 207 KB

english, 2005

25

Stratégies reproductives et transmission des gènes: grâce aux femmes et malgré les hommes ?

Journal:

Year:

2010

Language:

french

File:

PDF, 475 KB

french, 2010

26

Y chromosome variants and male reproductive function

Ken McElreavey, Celia Ravel, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi

Journal:

International Journal of Andrology

Year:

2006

Language:

english

File:

PDF, 110 KB

english, 2006

27

Ultrastructural localization of rDNA and rRNA by in situ hybridization in the nucleolus of human spermatids

Jean-Pierre Dadoune, Jean-Pierre Siffroi, Marie-Françoise Alfonsi

Journal:

Cell and Tissue Research

Year:

1994

Language:

english

File:

PDF, 2.60 MB

english, 1994

28

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre, Uppala Radh

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 667 KB

english, 2010

29

Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre, Uppala Radh

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 31 KB

english, 2010

30

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

Sandra Chantot-Bastaraud, Christine Muti, Eva Pipiras, Marie Claude Routon, Anne Roubergue, Lydie Burglen, Jean Pierre Siffroi, Brigitte Simon-Bouy

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 268 KB

english, 2004

31

Endometrium from women with and without endometriosis, and peritoneal, ovarian and bowel endometriosis, show different c-kit protein expression

Catherine Uzan, Annie Cortez, Charlotte Dufournet, Raffaèle Fauvet, Jean-Pierre Siffroi, Emile Daraï

Journal:

Journal of Reproductive Immunology

Year:

2005

Language:

english

File:

PDF, 257 KB

english, 2005

32

Expression of apoptosis-related proteins in peritoneal, ovarian and colorectal endometriosis

Charlotte Dufournet, Catherine Uzan, Raffaèle Fauvet, Annie Cortez, Jean-Pierre Siffroi, Emile Daraï

Journal:

Journal of Reproductive Immunology

Year:

2006

Language:

english

File:

PDF, 377 KB

english, 2006

33

French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature

I Luquet, F Mugneret, P.D Athis, N Nadal, B Favre, C Abel, N Chelloug, J Lespinasse, M.F Portnoi, N Joyé, J.M Dupont, A Lebbar, J.L Bresson, F Fellmann, J.P Siffroi, S Chantot-Bastaraud, J Chiesa, F A

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 107 KB

english, 2002

34

Unstable translocation t(14;21) in a man, inherited as a t(13;14) in one of his daughters

J. P. Siffroi, F. Viguie, F. Romani

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 343 KB

english, 1988

35

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

36

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

Marie-Paule Beaujard, Sandra Chantot, Michèle Dubois, Boris Keren, Wassila Carpentier, Philippe Mabboux, Sandra Whalen, Michel Vodovar, Jean-Pierre Siffroi, Marie-France Portnoï

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 652 KB

english, 2009

37

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure

Celia Ravel, Sandra Chantot-Bastaraud, Brahim El Houate, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Ken McElreavey

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 83 KB

english, 2006

38

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection

Celia Ravel, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Denise Escalier, Jean-Marie Antoine, Jacqueline Mandelbaum

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 711 KB

english, 2006

39

High incidence of chromosomal abnormalities in oocyte donors

Célia Ravel, Hélène Letur, Dominique Le Lannou, Claire Barthélémy, Jean Luc Bresson, Jean Pierre Siffroi

Journal:

Fertility and Sterility

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

40

Y-chromosome AZFc structural architecture and relationship to male fertility

Celia Ravel, Sandra Chantot-Bastaraud, Brahim El Houate, Hassan Rouba, Marie Legendre, Diana Lorenço, Jacqueline Mandelbaum, Jean Pierre Siffroi, Ken McElreavey

Journal:

Fertility and Sterility

Year:

2009

Language:

english

File:

PDF, 518 KB

english, 2009

41

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome

Celia Ravel, Diana Lorenço, Lionel Dessolle, Jacqueline Mandelbaum, Ken McElreavey, Emile Darai, Jean Pierre Siffroi

Journal:

Fertility and Sterility

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

42

Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination

Nino Guy Cassuto, Nathalie Le Foll, Sandra Chantot-Bastaraud, Richard Balet, Dominique Bouret, Alexandre Rouen, Rakia Bhouri, Capucine Hyon, Jean Pierre Siffroi

Journal:

Fertility and Sterility

Year:

2011

Language:

english

File:

PDF, 307 KB

english, 2011

43

Le caryotype systématique chez les donneurs et donneuses de gamètes : utilité réelle ou simple sécurité ?

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2004

File:

PDF, 310 KB

2004

44

Aspects moléculaires du déterminisme sexuel : régulation génique et pathologie

C. Ravel, S. Chantot-Bastaraud, J.-P. Siffroi

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2004

Language:

french

File:

PDF, 474 KB

french, 2004

45

Indications et contre-indications génétiques à l'accueil d'embryon

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2005

Language:

french

File:

PDF, 103 KB

french, 2005

46

Polymorphismes du chromosome Y et fertilité masculine

C. Ravel, S. Chantot-Bastaraud, K. McElreavey, J.-P. Siffroi

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2006

Language:

french

File:

PDF, 469 KB

french, 2006

47

Spermiogenèse : l’acétylation des histones déclenche la reprogrammation du génome mâle

S. Rousseaux, J. Gaucher, J. Thevenon, C. Caron, A.-L. Vitte, S. Curtet, C. Derobertis, A.-K. Faure, R. Levy, I. Aknin-Seifer, C. Ravel, J.-P. Siffroi, K. Mc Elreavey, H. Lejeune, C. Jimenez, S. Henne

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2009

File:

PDF, 155 KB

2009

48

Anomalies de structure du chromosome Y et syndrome de Turner

C. Ravel, J.-P. Siffroi

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2009

File:

PDF, 386 KB

2009

49

Chromosome Y et spermatogenèse

C. Ravel, J.-P. Siffroi

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2009

File:

PDF, 341 KB

2009

50

Cellules fœtales dans le sang maternelet diagnostic anténatal

J.P Siffroi, N Freiss-Rouas, S Kanafani, C Menier

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2000

Language:

french

File:

PDF, 91 KB

french, 2000