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51

Origines géniques et chromosomiques des anomalies de la spermatogenèse : aspects cliniques et rapports avec les modèles animaux

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

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2003

Language:

french

File:

PDF, 343 KB

french, 2003

52

In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

Christine Gicquel, Véronique Gaston, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Antoine Flahault, Yves Le Bouc

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

53

Quality assessment of induced spermatogenesis in hypogonadotrophic hypogonadic men treated with gonadotrophins

K. Krabchi, I. Berthaut, S. Chantot-Bastaraud, C. Ravel, N. Chabbert-Buffet, V. de Larouzière, P. Bouchard, J. Mandelbaum, J.-P. Siffroi, S. Christin-Maitre

Journal:

Reproductive BioMedicine Online

Year:

2011

Language:

english

File:

PDF, 188 KB

english, 2011

54

Polymorphisms in DLGH1 and LAMC1 in Mayer–Rokitansky–Kuster–Hauser syndrome

Celia Ravel, Anu Bashamboo, Joelle Bignon-Topalovic, Jean-Pierre Siffroi, Ken McElreavey, Emile Darai

Journal:

Reproductive BioMedicine Online

Year:

2012

Language:

english

File:

PDF, 316 KB

english, 2012

55

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot-Le Moal, Guy Montantin, Ludovic Jeanson, Aline Tamalet, Jean-François Papon, Jean-Pierre Siffroi, Nathalie Rives, Valérie

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 589 KB

english, 2012

56

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno-De-Luca, Delphine Heron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean-Pierre Siffroi, Sandra Chantot-Bastaraud, Baya Benyahia, Oriane

Journal:

Biological Psychiatry

Year:

2009

Language:

english

File:

PDF, 510 KB

english, 2009

57

Underlying karyotype abnormalities in IVF/ICSI patients

S Chantot-Bastaraud, C Ravel, JP Siffroi

Journal:

Reproductive BioMedicine Online

Year:

2008

Language:

english

File:

PDF, 399 KB

english, 2008

58

P59 Sperm transcriptome profiling and spermatogenesis decays in normal and oligozoospermic patients

D. Montjean, P. Cohen-Bacrie, P. De La Grange, D. Gentien, J-P. Siffroi, S. Belloc, Y. Ménézo, M. Benkhalifa

Journal:

Reproductive BioMedicine Online

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

59

A Circadian Clock Transcription Model for the Personalization of Cancer Chronotherapy

Li, X.-M., Mohammad-Djafari, A., Dumitru, M., Dulong, S., Filipski, E., Siffroi-Fernandez, S., Mteyrek, A., Scaglione, F., Guettier, C., Delaunay, F., Levi, F.

Journal:

Cancer Research

Year:

2013

Language:

english

File:

PDF, 1.42 MB

english, 2013

60

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers

Rouen, A., Balet, R., Dorna, M., Hyon, C., Pollet-Villard, X., Chantot-Bastaraud, S., Joye, N., Portnoi, M.-F., Cassuto, N. G., Siffroi, J.-P.

Journal:

Human Reproduction

Year:

2013

Language:

english

File:

PDF, 185 KB

english, 2013

61

Competition between Calnexin and BiP in the Endoplasmic Reticulum Can Lead to the Folding or Degradation of Human Thyroperoxidase †

Le Fourn, Valérie, Siffroi-Fernandez, Sandrine, Ferrand, Mireille, Franc, Jean-Louis

Journal:

Year:

2006

Language:

english

File:

PDF, 442 KB

english, 2006

62

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

Carabalona, A., Beguin, S., Pallesi-Pocachard, E., Buhler, E., Pellegrino, C., Arnaud, K., Hubert, P., Oualha, M., Siffroi, J. P., Khantane, S., Coupry, I., Goizet, C., Gelot, A. B., Represa, A., Card

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 974 KB

english, 2012

63

Are human male patients with DAX1/NR0B1 mutations infertile?

Ravel, Célia, Hyon, Capucine, Siffroi, Jean-Pierre, Christin-Maitre, Sophie

Journal:

Annales d'Endocrinologie

Year:

2014

File:

PDF, 213 KB

2014

64

Nucleolar transcriptional activity in human round spermatids

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

Journal:

Biology of the Cell

Year:

1992

Language:

english

File:

PDF, 140 KB

english, 1992

65

SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy

Keren, Boris, Chantot-Bastaraud, Sandra, Brioude, Frédéric, Mach, Corinne, Fonteneau, Eric, Azzi, Salah, Depienne, Christel, Brice, Alexis, Netchine, Irène, Le Bouc, Yves, Siffroi, Jean-Pierre, Rossig

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 658 KB

english, 2013

66

Le don anonyme de sperme n’augmente pas significativement les unions entre apparentés, la consanguinité et l’incidence des maladies récessives

Serre, J.-L., Leutenegger, A.-L., Bernheim, A., Fellous, M., Rouen, A., Kunstmann, J.-M., Hyon, C., Siffroi, J.-P.

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2014

Language:

french

File:

PDF, 611 KB

french, 2014

67

Découverte prénatale d’un isodicentrique (Yp) : enseignements à tirer

Receveur, A., Quibel, C., Tang, N., Verhoest, P., Siffroi, J.P., Copin, H.

Journal:

Year:

2006

Language:

french

File:

PDF, 98 KB

french, 2006

68

Apport d’une démarche d’assurance qualité de la production de l’information médicalisée pour l’enregistrement et le codage des mort-nés par le PMSI, dans les sites de naissances de l’Assistance publique–Hôpitaux de Paris (projet NEMOSIS)

Serfaty, A., Taille, C., Buhl, C., Christol, R., Loulizi, H., Leclerc, C., Elhouseini, R., Benifla, J.-L., Coulomb, A., Siffroi, J.-P., Jouannic, J.-M., Cisse, G., Frenkiel, J., Talvard, O., Taright,

Journal:

Revue d'Épidémiologie et de Santé Publique

Year:

2013

Language:

french

File:

PDF, 61 KB

french, 2013

69

Caractéristiques du polyomavirus de Merkel dans des lignées de carcinome à cellules de Merkel au cours du temps

Molet, L, Cantero-Brassart, L, Chantot-Bastaraud, S, Nicco, C, Vallette, B, Valent, A, Siffroi, JP, Batteux, F, Rozenberg, F

Journal:

Revue Francophone des Laboratoires

Year:

2014

Language:

french

File:

PDF, 473 KB

french, 2014

70

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

Lévy, Jonathan, Receveur, Aline, Jedraszak, Guillaume, Chantot-Bastaraud, Sandra, Renaldo, Florence, Gondry, Jean, Andrieux, Joris, Copin, Henri, Siffroi, Jean-Pierre, Portnoï, Marie-France

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1000 KB

english, 2015

71

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

Journal:

Human Reproduction

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

72

Functional genomics identify Birc5 / Survivin as a candidate gene involved in the chronotoxicity of cyclin-dependent kinase inhibitors

Siffroi-Fernandez, Sandrine, Dulong, Sandrine, Li, Xiao-Mei, Filipski, Elisabeth, Gréchez-Cassiau, Aline, Peteri-Brünback, Brigitta, Meijer, Laurent, Lévi, Francis, Teboul, Michèle, Delaunay, Franck

Journal:

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014

73

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Benzacken, B, Siffroi, J P, Le Bourhis, C, Krabchi, K, Joye, N, Maschino, F, Viguie, F, Soulie, J, Gonzales, M, Migne, G, Bucourt, M, Encha-Razavi, F, Carbillon, L, Taillemite, J L

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.53 MB

english, 1997

74

Taux de mortinatalité en France : un indicateur de santé publique fiable auxxiesiècle ?

Serfaty, A., Moreira, S., Pedrero, C., Gonzales, M., Coulomb, A., Siffroi, J. -P., Benifla, J. -L., Jouannic, J. -M.

Journal:

Revue de médecine périnatale

Year:

2015

Language:

french

File:

PDF, 199 KB

french, 2015

75

Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI

Journal:

Molecular Human Reproduction

Year:

1997

Language:

english

File:

PDF, 173 KB

english, 1997

76

O01 Obtention d’adipocytes beiges humains fonctionnels in vitro et in vivo à partir de cellules souches à pluripotence induite

Guénantin, A.-C., Briand, N., Capel, E., Stillitano, F., Jeziorowska, D., Morichon, R., Siffroi, J.-P., Fève, B., Capeau, J., Hulot, J.-S., Vigouroux, C.

Journal:

Diabetes & Metabolism

Year:

2015

Language:

french

File:

PDF, 73 KB

french, 2015

77

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers

Rouen, Alexandre, Lavillaureix, Alinoë, Hyon, Capucine, Heide, Solveig, Clède, Sylvain, Balet, Richard, Kott, Esther, Cassuto, Nino Guy, Siffroi, Jean-Pierre

Journal:

Reproductive BioMedicine Online

Year:

2015

Language:

english

File:

PDF, 559 KB

english, 2015

78

Identification of thyroglobulin domain(s) involved in cell-surface binding and endocytosis

Siffroi-Fernandez, S

Journal:

Journal of Endocrinology

Year:

2001

Language:

english

File:

PDF, 308 KB

english, 2001

79

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

Heide, Solveig, Afenjar, Alexandra, Edery, Patrick, Sanlaville, Damien, Keren, Boris, Rouen, Alexandre, Lavillaureix, Alinoë, Hyon, Capucine, Doummar, Diane, Siffroi, Jean-Pierre, Chantot-Bastaraud, S

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 457 KB

english, 2015

80

Heritable Disease and Sperm Donation

Siffroi, Jean-Pierre

Journal:

JAMA The Journal of the American Medical Association

Year:

2010

Language:

english

File:

PDF, 63 KB

english, 2010

81

Acidic Fibroblast Growth Factor (FGF-1) and FGF Receptor 1 Signaling in Human Y79 Retinoblastoma

Siffroi-Fernandez, Sandrine

Journal:

Archives of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 165 KB

english, 2005

82

Expression of the TAR RNA binding protein in human testis

Journal:

Molecular Human Reproduction

Year:

2001

Language:

english

File:

PDF, 565 KB

english, 2001

83

Regulation of the Intracellular Localization of Foxo3a by Stress-Activated Protein Kinase Signaling Pathways in Skeletal Muscle Cells

Clavel, S., Siffroi-Fernandez, S., Coldefy, A. S., Boulukos, K., Pisani, D. F., Derijard, B.

Journal:

Molecular and Cellular Biology

Year:

2010

Language:

english

File:

PDF, 2.40 MB

english, 2010

84

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

Frapsauce, C., Ravel, C., Legendre, M., Sibony, M., Mandelbaum, J., Donadille, B., Achermann, J. C., Siffroi, J.- P., Christin-Maitre, S.

Journal:

Human Reproduction

Year:

2011

Language:

english

File:

PDF, 214 KB

english, 2011

85

Retinoic Acid Regulates the Expression of Photoreceptor Transcription Factor NRL

Khanna, H., Akimoto, M., Siffroi-Fernandez, S., Friedman, J. S., Hicks, D., Swaroop, A.

Journal:

Journal of Biological Chemistry

Year:

2006

Language:

english

File:

PDF, 864 KB

english, 2006

86

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Lévy, Jonathan, Jouannic, Jean-Marie, Saada, Julien, Dhombres, Ferdinand, Siffroi, Jean-Pierre, Portnoï, Marie-France

Journal:

Case Reports in Genetics

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

87

First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

Rouen, Alexandre, Hyon, Capucine, Balet, Richard, Joyé, Nicole, Cassuto, Nino Guy, Siffroi, Jean-Pierre

Journal:

Case Reports in Genetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

88

Connexin43 Gene Expression and Regulation in the Rodent Seminiferous Epithelium

Batias, C., Siffroi, J.-P., Fenichel, P., Pointis, G., Segretain, D.

Journal:

Journal of Histochemistry & Cytochemistry

Year:

2000

Language:

english

File:

PDF, 4.90 MB

english, 2000

89

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

Chantot-Bastaraud, S., Ravel, C., Berthaut, I., McElreavey, K., Bouchard, P., Mandelbaum, J., Siffroi, J.P.

Journal:

Molecular Human Reproduction

Year:

2006

Language:

english

File:

PDF, 229 KB

english, 2006

90

Mutations in the protamine 1 gene associated with male infertility

Ravel, C., Chantot-Bastaraud, S., El Houate, B., Berthaut, I., Verstraete, L., De Larouziere, V., Lourenco, D., Dumaine, A., Antoine, J.M., Mandelbaum, J., Siffroi, J.P., McElreavey, K.

Journal:

Molecular Human Reproduction

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

91

Prenatal Diagnosis of a Large Centromeric Heteromorphism of Chromosome 12: Implications for Genetic Counseling

Chantot-Bastaraud, Sandra, Siffroi, Jean Pierre, Berkane, Nadia, Heim, Nazbanou, Herve, Fran&ccedil, ois, Uzan, Serge, Vendrely, Eric

Journal:

Fetal Diagnosis and Therapy

Year:

2003

Language:

english

File:

PDF, 65 KB

english, 2003

92

Calnexin and Calreticulin Binding to Human Thyroperoxidase Is Required for Its First Folding Step(s) But Is Not Sufficient to Promote Efficient Cell Surface Expression 1

Fayadat, Laurence, Siffroi-Fernandez, Sandrine, Lanet, Jeanne, Franc, Jean-Louis

Journal:

Year:

2000

File:

PDF, 441 KB

2000

93

Calnexin and Calreticulin Binding to Human Thyroperoxidase Is Required for Its First Folding Step(s) But Is Not Sufficient to Promote Efficient Cell Surface Expression 1

Fayadat, Laurence, Siffroi-Fernandez, Sandrine, Lanet, Jeanne, Franc, Jean-Louis

Journal:

Year:

2000

Language:

english

File:

PDF, 441 KB

english, 2000

94

A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility 1

Krausz, C., Quintana-Murci, L., Barbaux, S., Siffroi, J.-P., Rouba, H., Delafontaine, D., Souleyreau-Therville, N., Arvis, G., Antoine, J. M., Erdei, E., Taar, J. P., Tar, A., Jeandidier, E., Plessis,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 614 KB

english, 1999

95

Binding and Internalization of Thyroglobulin: Selectivity, pH Dependence, and Lack of Tissue Specificity

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

Journal:

Year:

1997

Language:

english

File:

PDF, 651 KB

english, 1997

96

Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?

Serre, J.-L., Leutenegger, A.-L., Bernheim, A., Fellous, M., Rouen, A., Siffroi, J.-P.

Journal:

Human Reproduction

Year:

2014

Language:

english

File:

PDF, 199 KB

english, 2014

97

Advanced paternal age and de-novo complex chromosomal rearrangement in offspring

Benzacken, B., Siffroi, J. P., Straub, B., Le Bourhis, C., Sauvion, S., Gaudelus, J., Dadoune, J. P., Wolf, J. P.

Journal:

Human Reproduction

Year:

1998

Language:

english

File:

PDF, 115 KB

english, 1998

98

Y chromosome microdeletions and germinal mosaicism in infertile males

Le Bourhis, C., Siffroi, J. P., McElreavey, K., Dadoune, J. P.

Journal:

Molecular Human Reproduction

Year:

2000

Language:

english

File:

PDF, 295 KB

english, 2000

99

Stratégies reproductives et transmission des gènes: grâce aux femmes et malgré les hommes ?; Reproductive strategies and gene transmission: thanks to women in spite of men?;

Journal:

Year:

2010

Language:

french

File:

PDF, 122 KB

french, 2010

100

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency

Hyon, C., Mansour-Hendili, L., Chantot-Bastaraud, S., Donadille, B., Kerlan, V., Dodé, C., Jonard, S., Delemer, B., Gompel, A., Reznik, Y., Touraine, P., Siffroi, J. P., Christin-Maitre, S.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 696 KB

english, 2016