SIGAUDY, S.: search on Z-Library

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1

Antenatal prognostic factor of fetal echogenic bowel

Ronin, Candice, Mace, Pierre, Stenard, Fabien, Loundou, Anderson, Capelle, Marianne, Mortier, Isabelle, Pellissier, Marie Christine, Sigaudy, Sabine, Levy, Annie, D’ercole, Claude, Hoffmann, Pascale,

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2017

Language:

english

File:

PDF, 156 KB

english, 2017

2

Whole body perinatal postmortem CT angiography

Sarda-Quarello, L., Bartoli, C., Laurent, P.-E., Torrents, J., Piercecchi-Marti, M.-D., Sigaudy, S., Ariey-Bonnet, D., Gorincour, G.

Journal:

Diagnostic and Interventional Imaging

Year:

2015

Language:

english

File:

PDF, 783 KB

english, 2015

3

Switching Impulse Tests of EHV and UHV Transformers

Thione, L., Spinelli, A., Bossi, A., Sesto, E., Sigaudi, G., Babare, A.

Journal:

IEEE Transactions on Power Apparatus and Systems

Year:

1980

Language:

english

File:

PDF, 6.55 MB

english, 1980

4

Whole ARX gene duplication is compatible with normal intellectual development

Popovici, Cornel, Busa, Tiffany, Boute, Odile, Thuresson, Ann-Charlotte, Perret, Odile, Sigaudy, Sabine, Södergren, Tommy, Andrieux, Joris, Moncla, Anne, Philip, Nicole

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 158 KB

english, 2014

5

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

Hichri, Haifa, Stoetzel, Corinne, Laurier, Virginie, Caron, Solenne, Sigaudy, Sabine, Sarda, Pierre, Hamel, Christian, Martin-Coignard, Dominique, Gilles, Morin, Leheup, Bruno

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 297 KB

english, 2005

6

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

Nava, C., Hanna, N., Michot, C., Pereira, S., Pouvreau, N., Niihori, T., Aoki, Y., Matsubara, Y., Arveiler, B., Lacombe, D., Pasmant, E., Parfait, B., Baumann, C., Heron, D., Sigaudy, S., Toutain, A.,

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 815 KB

english, 2007

7

Approche de la dysmorphologie fœtale in utero

N. Philip, E. Quarello, G. Gorincour, S. Sigaudy

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2010

File:

PDF, 616 KB

2010

8

Ganglioneuromatose iléo-colique diffuse avec hypersécrétion de peptide vaso-intestinal chez un nourrisson : une manifestation inaugurale exceptionnelle d’une NF1

Delarue, Arnauld, Fernandez, Carla, Kadri, Malik, Fabre, Alexandre, Coze, Carole, Daniel, Laurent, Petit, Philippe, Sigaudy, Sabine, Pinson, Stéphane, Bouvier, Corinne

Journal:

Annales de Pathologie

Year:

2012

Language:

french

File:

PDF, 1.70 MB

french, 2012

9

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 4.49 MB

2019

10

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia

V Bennouna-Greene, S Kremer, C Stoetzel, D Christmann, C Schuster, M Durand, A Verloes, S Sigaudy, M Holder-Espinasse, J Godet, C Brandt, V Marion, A Danion, J-L Dietemann, H Dollfus

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 5.25 MB

english, 2011

11

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome

Marie Soulier, Sabine Sigaudy, Cécile Chau, Nicole Philip

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 58 KB

english, 2002

12

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

Florence Bretelle, Laura Beyer, Marie Christine Pellissier, Chantal Missirian, Sabine Sigaudy, Marc Gamerre, Claude D’Ercole, Nicole Philip

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

13

Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France

Suard, CornÃ©lie, Flori, Audrey, Paoli, Florent, Loundou, Anderson, Fouilloux, Virginie, Sigaudy, Sabine, Michel, Fabrice, Antomarchi, Julie, Moceri, Pamela, Paquis-Flucklinger, VÃ©ronique, DâErcole

Journal:

Year:

2020

File:

PDF, 1007 KB

2020

14

Renal and retinal involvement in the Sensenbrenner syndrome

Tsimaratos, Michel, Sarles, Jacques, Sigaudy, Sabine, Philip, Nicole

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

15

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Deborah Scheffer, Céline Huber, Lihadh I. Al-Gazali, Maja Di Rocco, Anne Godard, Jelena Martinovic, Annick Raas-Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fon

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.19 MB

english, 2004

16

BBS10 mutations are common in 'Meckel'-type cystic kidneys

Putoux, A., Mougou-Zerelli, S., Thomas, S., Elkhartoufi, N., Audollent, S., Le Merrer, M., Lachmeijer, A., Sigaudy, S., Buenerd, A., Fernandez, C., Delezoide, A.-L., Gubler, M.-C., Salomon, R., Saad,

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 647 KB

english, 2010

17

Multiple lateral meningoceles, distinctive fades and skeletal anomalies

PHILIP, N., ANDRAC, L., MONCLA, A., SIGAUDY, S., ZANON, N., LENA, G., CHOUX, M.

Journal:

Clinical Dysmorphology

Year:

1995

File:

PDF, 227 KB

1995

18

Prenatal ultrasonographic findings in Proteus syndrome

S. Sigaudy, C. Fredouille, D. Gambarelli, A. Potier, D. Cassin, C. Piquet, N. Philip

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 180 KB

english, 1998

19

Scanner du squelette fœtal : quand ? Comment ? Pourquoi ?

Gorincour, G., Chaumoitre, K., Bourliere-Najean, B., Bretelle, F., Sigaudy, S., D’Ercole, C., Philip, N., Potier, A., Petit, P., Panuel, M.

Journal:

Journal de Radiologie diagnostique et interventionnelle

Year:

2014

Language:

french

File:

PDF, 2.06 MB

french, 2014

20

Costello syndrome.

Philip, N, Sigaudy, S

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 772 KB

english, 1998

21

Value of fetal skeletal radiographs in the diagnosis of fetal death

B. Bourlière-Najean, A. Russel, M. Panuel, M. Piercecchi-Marti, S. Sigaudy, C. Fredouille, P. Petit, N. Philip, P. Devred

Journal:

European Radiology

Year:

2003

Language:

english

File:

PDF, 138 KB

english, 2003

22

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau, Pierre, Navarro, Claire, Harhouri, Karim, Roll, Patrice, Sigaudy, Sabine, Kaspi, Elise, Perrin, Sophie, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas

Journal:

Seminars in Cell & Developmental Biology

Year:

2014

Language:

english

File:

PDF, 5.51 MB

english, 2014

23

The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?

Bosselut, Hortense, Panuel, Michel, Sigaudy, Sabine, Gorincour, Guillaume, Chaumoitre, Kathia, Bretelle, Florence

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

24

Added value of MRI for the prenatal diagnosis of isolated orofacial clefts and comparison with ultrasound

Dabadie, A., Quarello, E., Degardin, N., Desbriere, R., Heckenroth, H., Sigaudy, S., Gorincour, G.

Journal:

Diagnostic and Interventional Imaging

Year:

2016

Language:

english

File:

PDF, 1.68 MB

english, 2016

25

Fetal megacystisâmicrocolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Billon, Clarisse, Molin, Arnaud, Poirsier, CÃ©line, Clemenson, Alix, Dauge, Coralie, Grelet, Maude, Sigaudy, Sabine, Patrier, Sophie, Goldenberg, Alice, Layet, ValÃ©rie, Tantau, Julia, Fleury, ClÃ©men

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 3.15 MB

2020

26

Behavioral and temperamental features of children with Costello syndrome

Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, Kattalin Etchegoyhen, Emmanuelle Taupiac, Sabine Sigaudy, Benoît Arveiler, Nicole Philip, Manuel Bouvard, Didier Lacombe

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

27

Retard mental avec alpha-thalassémie: phénotype clinique. Un nouveau syndrome lié au chromosome X

A. Moncla, P. Malzac, S. Sigaudy, J. Mancini, B. Chabrol, M.O. Livet, N. Philip

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 148 KB

1996

28

Prenatal diagnosis of complete nonrotation of fetal bowel with ultrasound and magnetic resonance imaging

Lesieur, E., Lecompte, J.-F., Gorincour, G., Potier, A., Héry, G., Bretelle, F., Sigaudy, S., de Lagausie, P.

Journal:

Diagnostic and Interventional Imaging

Year:

2016

Language:

english

File:

PDF, 530 KB

english, 2016

29

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Barthélémy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Roll, Patrice, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisèle, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios E, Spilioti

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.58 MB

english, 2015

30

Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

Fabienne Giuliano, Albert David, Patrick Edery, Sabine Sigaudy, Dominique Bonneau, Valérie Cormier-Daire, Nicole Philip

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 146 KB

english, 2004

31

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

Huber, Céline, Wu, Sulin, Kim, Ashley S., Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Le Quan Sang, Kim-Hanh, Rimoin, David L., Cohn, Daniel H., Munnich, Arnold, Krakow, Debo

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 781 KB

english, 2013

32

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

Lo Cicero, Alessandra, Saidani, Manoubia, Allouche, Jennifer, Egesipe, Anne Laure, Hoch, Lucile, Bruge, Celine, Sigaudy, Sabine, De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Baldeschi, Christine,

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 2.02 MB

english, 2018

33

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

Nguyen, K., Putoux, A., Busa, T., Cordier, M.P., Sigaudy, S., Till, M., Chabrol, B., Michel-Calemard, L., Bernard, R., Julia, S., Malzac, P., Labalme, A., Missirian, C., Edery, P., Popovici, C., Phili

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 255 KB

english, 2015

34

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

S. Sigaudy, G. Vittu, A. David, J. Vigneron, D. Lacombe, A. Moncla, E. Flori, N. Philip

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 113 KB

english, 2000

35

Les phénotypes comportementaux

N. Philip, S. Sigaudy, B. Chabrol

Journal:

Archives de Pédiatrie

Year:

1997

File:

PDF, 309 KB

1997

36

Agénésie déférentielle bilatérale et hernie inguinale chez un enfant. Une présentation précoce rare de la mucoviscidose

T Merrot, A Delarue, K Chaumoitre, M Panuel, S Sigaudy, J.P Chazalette, P Alessandrini

Journal:

Archives de Pédiatrie

Year:

2001

Language:

french

File:

PDF, 26 KB

french, 2001

37

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

N. Philip, L. Colleaux, S. Sigaudy, T. Attié-Bitach, C. Missirian, A. Moncla, M.G. Mattei, G. Bollini

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 307 KB

english, 2005

38

Oral-facial-digital syndrome with retinal abnormalities: Report of a new case

Dr. S. Sigaudy, N. Philip, C. Gire, B. Chabrol

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 149 KB

english, 1996

39

Angio-scanner post-mortem périnatal corps entier

Sarda-Quarello, L., Bartoli, C., Laurent, P.-E., Torrents, J., Piercecchi-Marti, M.-D., Sigaudy, S., Ariey-Bonnet, D., Gorincour, G.

Journal:

Journal de Radiologie diagnostique et interventionnelle

Year:

2015

Language:

french

File:

PDF, 818 KB

french, 2015

40

Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz- Jampel syndrome type 2

Sigaudy, S, Moncla, A, Fredouille, C, Bourli??re, B, Lambert, J C, Philip, N

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 403 KB

1998

41

Fetal skeletal computed tomography: When? How? Why?

Gorincour, G., Chaumoitre, K., Bourliere-Najean, B., Bretelle, F., Sigaudy, S., D’Ercole, C., Philip, N., Potier, A., Petit, P., Panuel, M.

Journal:

Diagnostic and Interventional Imaging

Year:

2014

Language:

english

File:

PDF, 2.04 MB

english, 2014

42

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, SÃ©bastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, DaniÃ¨le, Bit

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 669 KB

2020

43

Neurofibrome plexiforme isolé de survenue tardive, en dehors d’un contexte de neurofibromatose

Levy Bencheton, A., Mallet, S., Rojat Habib, M.-C., Figarella-Branger, D., Sigaudy, S., Grob, J.-J., Richard, M.-A.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2010

File:

PDF, 984 KB

2010

44

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S

Journal:

Year:

2015

Language:

english

File:

PDF, 292 KB

english, 2015

45

Approche segmentaire des cardiopathies congénitales : principes et applications en imagerie prénatale

Lesieur, E., Dabadie, A., Pico, H., Bourachot, M., Gach, P., Sorensen, C., Capelle, M., Bretelle, F., Sigaudy, S., Gorincour, G.

Journal:

Gynécologie Obstétrique & Fertilité

Year:

2016

File:

PDF, 2.62 MB

2016

46

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, C. Stoetzel, M. C. Vincent, C. C. Leitch, V. Laurier, J. M. Danse, S. Hellé, V. Marion, V. Bennouna-Greene, S. Vicaire, A. Megarbane, J. Kaplan, V. Drouin-Garraud, M. Hamdani, S. Sigaudy,

Journal:

Year:

2010

Language:

english

File:

PDF, 487 KB

english, 2010

47

Prenatal findings in cardio-facio-cutaneous syndrome

Templin, Ludivine, Baumann, Clarisse, Busa, Tiffany, Heckenroth, Hélène, Pouvreau, Nathalie, Toutain, Annick, Cave, Hélène, Verloes, Alain, Sigaudy, Sabine, Philip, Nicole

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 153 KB

english, 2016

48

Gestion prénatale des fœtus avec un périmètre crânien inférieur au 3 e percentile

Mace, P., Milh, M., Girard, N., Sigaudy, S., Quarello, E.

Journal:

La Revue Sage-Femme

Year:

2017

File:

PDF, 14.38 MB

2017

49

CHARGE syndrome: Report of 47 cases and review

Tellier, A.L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., de Lonlay-Debeney, P., Morrisseau-Durand, M.P., Hubert, P., Michel, J.L., Jan, D., Dollfus, H., Baumann, C., Labrune,

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 617 KB

english, 1998

50

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Imhoff, O., Marion, V., Stoetzel, C., Durand, M., Holder, M., Sigaudy, S., Sarda, P., Hamel, C. P., Brandt, C., Dollfus, H., Moulin, B.

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2011

Language:

english

File:

PDF, 94 KB

english, 2011

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