Anne-Lise Delezoïde : rechercher sur Z-Library

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1

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

Mary, Laura, Scheidecker, Sophie, Kohler, Monique, Lombardi, Maria-Paola, Delezoide, Anne-Lise, Auberger, Elisabeth, Triau, Stéphane, Colin, Estelle, Gerard, Marion, Grzeschik, Karl-Heinz, Dollfus, Hé

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 747 KB

english, 2016

2

Prenatal diagnosis of horseshoe lung: contribution of MRI

Bogdana Tilea, Catherine Garel, Anne-Lise Delezoide, Edith Vuillard, Annabelle Azancot, Jean-François Oury, Guy Sebag

Journal:

Pediatric Radiology

Année:

2005

Langue:

english

Fichier:

PDF, 275 KB

english, 2005

3

Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex-related study on a series of 709 cases

Hamdan Al-Hazmi, Sophie Dreux, Anne-Lise Delezoide, Marc Dommergues, Stephen Lortat-Jacob, Jean-François Oury, Alaa El-Ghoneimi, Françoise Muller

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 119 KB

english, 2012

4

Parathyroid Hormone Receptor Type 1/Indian Hedgehog Expression Is Preserved in the Growth Plate of Human Fetuses Affected with Fibroblast Growth Factor Receptor Type 3 Activating Mutations

Sarah Cormier, Anne-Lise Delezoide, Catherine Benoist-Lasselin, Laurence Legeai-Mallet, Jacky Bonaventure, Caroline Silve

Journal:

The American Journal of Pathology

Année:

2002

Langue:

english

Fichier:

PDF, 5.25 MB

english, 2002

5

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification

Anne-Lise Delezoide, Catherine Benoist-Lasselin, Laurence Legeai-Mallet, Martine Le Merrer, Arnold Munnich, Michel Vekemans, Jacky Bonaventure

Journal:

Mechanisms of Development

Année:

1998

Langue:

english

Fichier:

PDF, 5.33 MB

english, 1998

6

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis

Bornes, Marie, Spaggiari, Emmanuel, Schmitz, Thomas, Dreux, Sophie, Czerkiewicz, Isabelle, Delezoide, Anne-Lise, El-Ghoneimi, Alaa, Oury, Jean-François, Muller, Françoise

Journal:

Prenatal Diagnosis

Année:

2013

Langue:

english

Fichier:

PDF, 80 KB

english, 2013

7

Fetal phenotype associated with the 22q11 deletion

Noël, Anne-Claire, Pelluard, Fanny, Delezoide, Anne-Lise, Devisme, Louise, Loeuillet, Laurence, Leroy, Brigitte, Martin, Alain, Bouvier, Raymonde, Laquerriere, Annie, Jeanne-Pasquier, Corinne, Bessier

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 271 KB

english, 2014

8

Cytomegalovirus-Induced Brain Malformations in Fetuses

Teissier, Natacha, Fallet-Bianco, Catherine, Delezoide, Anne-Lise, Laquerrière, Annie, Marcorelles, Pascale, Khung-Savatovsky, Suonavy, Nardelli, Jeannette, Cipriani, Sara, Csaba, Zsolt, Picone, Olivi

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 25.09 MB

english, 2014

9

Zygosity and Chorionicity in the Prognosis of Triplet Pregnancies: Contribution of Microsatellites

Guilherme, Romain, Drunat, Séverine, Delezoide, Anne-Lise, Ray, Camille Le, Oury, Jean-François, Luton, Dominique

Journal:

Twin Research and Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 93 KB

english, 2008

10

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

Denamur, Erick, Delezoide, Anne-Lise, Alberti, Corinne, Bourillon, Agnès, Gubler, Marie-Claire, Bouvier, Raymonde, Pascaud, Olivier, Elion, Jacques, Grandchamp, Bernard, Michel-Calemard, Laurence, Mis

Journal:

Kidney International

Année:

2010

Langue:

english

Fichier:

PDF, 805 KB

english, 2010

11

Potential Role of Glucocorticoid Signaling in the Formation of Pancreatic Islets in the Human Fetus

Phan-Hug, Franziska, Guimiot, Fabien, Lelièvre, Vincent, Delezoide, Anne-Lise, Czernichow, Paul, Breant, Bernadette, Blondeau, Bertrand

Journal:

Pediatric Research

Année:

2008

Langue:

english

Fichier:

PDF, 1.48 MB

english, 2008

12

Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus

Szinnai, Gabor, Lacroix, Ludovic, Carré, Aurore, Guimiot, Fabien, Talbot, Monique, Martinovic, Jelena, Delezoide, Anne-Lise, Vekemans, Michel, Michiels, Stefan, Caillou, Bernard, Schlumberger, Martin,

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 959 KB

english, 2007

13

Familial blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation

Loshkajian, Ara, Roume, Joelle, Stanescu, Victor, Delezoide, Anne-lise, Stampf, Françoise, Maroteaux, Pierre

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 1.54 MB

english, 1997

14

Expression of theRET proto-oncogene in human Embryos

Atti�-Bitach, Tania, Abitbol, Marc, G�rard, Marion, Delezoide, Anne-Lise, Aug�, Joelle, Pelet, Anna, Amiel, Jeanne, Pachnis, Vassilis, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 731 KB

english, 1998

15

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

Anne-Lorraine Tellier, Jeanne Amiel, Anne-Lise Delezoide, Sophie Audollent, Joelle Augé, Dominique Esnault, Férechté Encha-Razavi, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Tania Attié-Bitac

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2000

16

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

Laurence Faivre, Martine Le Merrer, Serges Douvier, Nicole Laurent, Christel Thauvin-Robinet, Thierry Rousseau, Inge Vereecke, Paul Sagot, Anne-Lise Delezoide, Paul Coucke, Geert Mortier

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 224 KB

english, 2004

17

Oto-onycho-peroneal syndrome: Further delineation and first fetal report

Bettina Bessieres-Grattagliano, Genevieve Brodaty, Jelena Martinovic, Catherine Fallet-Bianco, Anne-Lise Delezoide, Fernand Daffos

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 262 KB

english, 2004

18

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

Luigi Titomanlio, Clarisse Baumann, Gheorghe Bonyhay, Yolène Huten, Jean-François Oury, Edith Vuillard, Catherine Garel, Patricia Terdjman, Alain Verloes, Anne-Lise Delezoide

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 278 KB

english, 2005

19

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene

Boris Keren, Oscar T. Suzuki, Marion Gérard-Blanluet, Dominique Brémond-Gignac, Monique Elmaleh, Luigi Titomanlio, Anne-Lise Delezoide, Maria Rita Passos-Bueno, Alain Verloes

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 266 KB

english, 2007

20

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

Romain Guilherme, Clarisse Baumann, Catherine Garel, Yolène Huten, Jean-François Oury, Anne-Lise Delezoide

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 202 KB

english, 2008

21

Thanatophoric dysplasia caused by double missense FGFR3 mutations

Stéphanie Pannier, Jelena Martinovic, Solange Heuertz, Anne-Lise Delezoide, Arnold Munnich, Laurent Schibler, Valérie Serre, Laurence Legeai-Mallet

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 316 KB

english, 2009

22

Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication

Romain Guilherme, Fabien Guimiot, Anne-Claude Tabet, Suonavy Khung-Savatovsky, Evelyne Gauthier, Marc Nouchy, Brigitte Benzacken, Alain Verloes, Jean-François Oury, Anne-Lise Delezoide, Azzedine Abour

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 179 KB

english, 2009

23

Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy?

Fabien Guimiot, Pascale Marcorelles, Anne-lise Delezoide, Annie Laquerrière

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 47 KB

english, 2010

24

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Marion Gerard-Blanluet, Marylin Port-Lis, Clarisse Baumann, Laurence Perrin-Sabourin, Patrick Ebrad, Georges Audry, Anne-Lise Delezoide, Alain Verloes

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 122 KB

english, 2010

25

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Houda Karmous-Benailly, Anne-Claude Tabet, Adeline Thaly, Olivier Dupuy, Yolène Huten, Dominique Luton, Clarisse Baumann, Anne-Lise Delezoide

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 185 KB

english, 2005

26

Abnormal abdominal situs: what and how should we look for?

Laurent J. Salomon, Clarisse Baumann, Anne-Lise Delezoide, Jean-François Oury, Danièle Pariente, Guy Sebag, Catherine Garel

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 182 KB

english, 2006

27

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders

Marina Colombani, Nicole Laurent, Martine Le Merrer, Anne-Lise Delezoide, Christel Thauvin-Robinet, Frédéric Huet, Paul Sagot, Stéphanie Couvreur, Thierry Rousseau, Stephen P. Robertson, Laurence Faiv

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 439 KB

english, 2006

28

Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21

Edwin Quarello, Fabien Guimiot, Jean-Marie Moalic, Michel Simoneau, Yves Ville, Anne-Lise Delezoide

Journal:

Prenatal Diagnosis

Année:

2007

Langue:

english

Fichier:

PDF, 96 KB

english, 2007

29

Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

Bogdana Tilea, Catherine Garel, Françoise Menez, Edith Vuillard, Monique Elmaleh-Bergès, Anne-Lise Delezoide, Guy Sebag

Journal:

Pediatric Radiology

Année:

2006

Langue:

english

Fichier:

PDF, 299 KB

english, 2006

30

MR imaging of fetal cerebral anomalies

Pascale C. Sonigo, Françoise F. Rypens, Michel Carteret, Anne-Lise Delezoide, Francis O. Brunelle

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 2.08 MB

english, 1998

31

Presentation of six cases of Stüve-Wiedemann syndrome

Valérie Cormier-Daire, A. Munnich, Stanislas Lyonnet, Pierre Rustin, Anne-Lise Delezoide, Pierre Maroteaux, Martine Le Merrer

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 590 KB

english, 1998

32

Inner ear lesions in congenital cytomegalovirus infection of human fetuses

Natacha Teissier, Anne-Lise Delezoide, Anne-Elisabeth Mas, Suonavy Khung-Savatovsky, Bettina Bessières, Jeannette Nardelli, Christelle Vauloup-Fellous, Olivier Picone, Nadira Houhou, Jean-François Our

Journal:

Acta Neuropathologica

Année:

2011

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2011

33

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

E. Mornet, Françoise Muller, Annie Lenvoisé-Furet, Anne-Lise Delezoide, Jean-Yves Col, Brigitte Simon-Bouy, Jean-Louis Serre

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 20 KB

english, 1997

34

Organ Weights in Human Fetuses after Formalin Fixation: Standards by Gestational Age and Body Weight

Anne-Marie Guihard-Costa, Françoise Ménez, Anne-Lise Delezoide

Journal:

Pediatric and Developmental Pathology

Année:

2002

Langue:

english

Fichier:

PDF, 388 KB

english, 2002

35

Unusual Variant of Holoprosencephaly in Monosomy 13q

Pascale Marcorelles, Philippe Loget, Catherine Fallet-Bianco, Joëlle Roume, Ferechte Encha-Razavi, Anne-Lise Delezoide

Journal:

Pediatric and Developmental Pathology

Année:

2002

Langue:

english

Fichier:

PDF, 2.71 MB

english, 2002

36

Developmental toxicity of the angiotensin II type 1 receptor antagonists during human pregnancy: a report of 10 cases

Raphael Serreau, Dominique Luton, Marie-Alice Macher, Anne-Lise Delezoide, Catherine Garel, Evelyne Jacqz-Aigrain

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Année:

2005

Langue:

english

Fichier:

PDF, 46 KB

english, 2005

37

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Rousseau, Francis, Saugier, Pascale, Merrer, Martine Le, Munnich, Arnold, Delezoide, Anne-Lise, Maroteaux, Pierre, Bonaventure, Jacky, Narcy, Françoise, Sanak, Marek

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 394 KB

1995

38

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

Abitbol, Marc, Menini, Christian, Delezoide, Anne-Lise, Rhyner, Thomas, Vekemans, Michel, Mallet, Jacques

Journal:

Nature Genetics

Année:

1993

Fichier:

PDF, 934 KB

1993

39

EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses

Laurence Legeai-Mallet, Antonio Rossi, Catherine Benoist-Lasselin, Rocco Piazza, Jean-François Mallet, Anne-Lise Delezoide, Arnold Munnich, Jacky Bonaventure, Louise Zylberberg

Journal:

Journal of Bone and Mineral Research

Année:

2000

Langue:

english

Fichier:

PDF, 3.50 MB

english, 2000

40

Insulin-like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues

Anne Laurent, Christelle Rouillac, Anne-Lise Delezoide, Yves Giovangrandi, Michel Vekemans, Dominique Bellet, Marc Abitbol, Michel Vidaud

Journal:

Molecular Reproduction and Development

Année:

1998

Langue:

english

Fichier:

PDF, 312 KB

english, 1998

41

Ultrasound assessment of the prognosis in triplet pregnancies

ROMAIN GUILHERME, CAMILLE LE RAY, EDITH VUILLARD, CATHERINE GAREL, ANNE-LISE DELEZOIDE, JEAN-FRANÇOIS OURY, DOMINIQUE LUTON

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Année:

2009

Langue:

english

Fichier:

PDF, 67 KB

english, 2009

42

Prenatal phenotype of congenital hyperparathyroidism

Emmanuel Spaggiari, Margot Bucau, Yline Capri, Nadia Belarbi, Anais Bekmezian, Jean-Michel Briffa, Anne-Lise Delezoide, Fabien Guimiot

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 119 KB

english, 2012

43

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide,

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 925 KB

english, 2009

44

Fetopathologic examination for early termination of pregnancy: dogma or necessity?

Laurence Gitz, Suonavy Khung-Savatovsky, Géraldine Viot, Julia Tantau, Gilles Grangé, Fanny Lewin, Anne-Lise Delezoide, Jean-François Oury, Vassilis Tsatsaris

Journal:

American Journal of Obstetrics and Gynecology

Année:

2011

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2011

45

Expression of the RSK2 gene during early human development

Fabien Guimiot, Anne-Lise Delezoide, André Hanauer, Michel Simonneau

Journal:

Gene Expression Patterns

Année:

2004

Langue:

english

Fichier:

PDF, 552 KB

english, 2004

46

Expression of fibroblast growth factors 18 and 23 during human embryonic and fetal development

Sarah Cormier, Christine Leroy, Anne-Lise Delezoide, Caroline Silve

Journal:

Gene Expression Patterns

Année:

2005

Langue:

english

Fichier:

PDF, 395 KB

english, 2005

47

Expression pattern of NOGO and NgR genes during human development

Hassan Al Halabiah, Anne-Lise Delezoide, Ana Cardona, Jean-Marie Moalic, Michel Simonneau

Journal:

Gene Expression Patterns

Année:

2005

Langue:

english

Fichier:

PDF, 968 KB

english, 2005

48

Expression patterns of parathyroid hormone-related peptide (PTHrP) and parathyroid hormone receptor type 1 (PTHR1) during human development are suggestive of roles specific for each gene that are not mediated through the PTHrP/PTHR1 paracrine signaling pathway

Sarah Cormier, Anne-Lise Delezoide, Caroline Silve

Journal:

Gene Expression Patterns

Année:

2003

Langue:

english

Fichier:

PDF, 978 KB

english, 2003

49

Central nervous system malformations and deformations in FGFR2-related craniosynostosis

Roman Hossein Khonsari, Anne-Lise Delezoide, Wenfei Kang, Jean M. Hébert, Bettina Bessières, Valérie Bodiguel, Catherine Collet, Laurence Legeai-Mallet, Paul T. Sharpe, Catherine Fallet-Bianco

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 572 KB

english, 2012

50

Prognosis and outcome of pregnancies exposed to renin–angiotensin system blockers

Emmanuel Spaggiari, Laurence Heidet, Gilles Grange, Fabien Guimiot, Sophie Dreux, Anne-Lise Delezoide, Renin–Angiotensin System Blockers Study Group, Françoise Muller

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 112 KB

english, 2012