Ngā hua rapu kaituhi :: APM

1

Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Tr... mā Antonio Rossi, Jacky Bonaventure, Anne‐Lise Delezoide, Giuseppe Cetta, Andrea Superti‐Furga

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia mā Laurence Legeai‐Mallet, Catherine Benoist-Lasselin, Anne‐Lise Delezoide, Arnold Münnich, Jacky Bonaventure

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

Biometry of Face and Brain in Fetuses with Trisomy 21 mā Anne-Marie Guihard-Costa, Suonavy Khung, Kathy Delbecque, Françoise Ménez, Anne‐Lise Delezoide

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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4

Negative Fetal FSH/LH Regulation in Late Pregnancy Is Associated with Declined Kisspeptin/KISS1R Expression in the Tuberal Hypothalamus mā Fabien Guimiot, L. Chevrier, Sophie Dreux, Didier Chevenne, Alain Caraty, Anne Lise Delezoïde, Nicolás de Roux

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions mā Luís Teixeira, Fabien Guimiot, Catherine Dodé, Catherine Fallet‐Bianco, Robert P. Millar, Anne‐Lise Delezoide, Jean‐Pierre Hardelin

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification mā Anne‐Lise Delezoide, Catherine Benoist-Lasselin, Laurence Legeai‐Mallet, Martine Le Merrer, Arnold Münnich, Michel Vekemans, Jacky Bonaventure

I whakaputaina 1998

Whiwhi kuputuhi katoa
Artigo

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7

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) mā François Rousseau, Vincent El Ghouzzi, Anne‐Lise Delezoide, Laurence Legeai‐Mallet, M Le Merrer, A Munnich, Jacky Bonaventure

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1 mā John J. Wysolmerski, Sarah Cormier, William M. Philbrick, Pamela Dann, Jianping Zhang, J. Roume, Anne‐Lise Delezoide, Caroline Silve

I whakaputaina 2001

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates mā Lætitia Martinerie, Say Viengchareun, Anne‐Lise Delezoide, Francis Jaubert, Martine Sinico, Sophie Prévôt, Pascal Boileau, Geri Méduri, Marc Lombès

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient mā D. Mahieu‐Caputo, A. Meulemans, Jéléna Martinovic, Marie‐Claire Gubler, Anne‐Lise Delezoide, Françoise Müller, Patrick Madélénat, Nicholas M. Fisk, Marc Dommergues

I whakaputaina 2005

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Twin-to-Twin Transfusion Syndrome mā D. Mahieu‐Caputo, Marc Dommergues, Anne‐Lise Delezoide, Mireille Lacoste, Yi Cai, Françoise Narcy, Dominique Jolly, Marie Gonzalès, Yves Dumez, Marie‐Claire Gubler

I whakaputaina 2000

Whiwhi kuputuhi katoa
Artigo

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12

Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus mā Gabor Szinnai, Ludovic Lacroix, Aurore Carré, Fabien Guimiot, Monique Talbot, Jéléna Martinovic, Anne‐Lise Delezoide, Michel Vekemans, Stefan Michiels, Bernard Caillou, Martin Schlumberger, Jean‐Michel Bidart, Michel Polak

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Dynamics of Thymus-Colonizing Cells during Human Development mā Rima Haddad, Fabien Guimiot, Emmanuelle Six, Frédéric Jourquin, Niclas Setterblad, Edmond Kahn, Micaël Yagello, Cécile Schiffer, Isabelle André‐Schmutz, Marina Cavazzana, Jean Claude Gluckman, Anne‐Lise Delezoide, Françoise Pflumio, Bruno Canque

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease mā Érick Denamur, Anne‐Lise Delezoide, Corinne Alberti, Agnès Bourillon, Marie‐Claire Gubler, Raymonde Bouvier, Olivier Pascaud, Jacques Élion, Bernard Grandchamp, Laurence Michel‐Calemard, Pascale Missy, Isabelle Zaccaria, Hervé Le Nagard, Bénédicte Gérard, Chantal Loirat

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer’s Disease Adults mā Sara Cipriani, Isidró Ferrer, Eleonora Aronica, Gábor G. Kovács, Catherine Verney, Jeannette Nardelli, Suonavy Khung, Anne‐Lise Delezoide, Ivan Milenković, Sowmyalakshmí Rasika, Philippe Manivet, Jean‐Louis Bénifla, Nicolas Deriot, Pierre Gressèns, Homa Adle‐Biassette

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia mā Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, L. Masini, F. Piro, G Maragliano, Anne‐Lise Delezoide, Tania Attié‐Bitach, Sylvie Manouvrier‐Hanu, Heather Etchevers, Patrick Calvas

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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17

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III mā Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jéléna Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise P. Cavalcanti, Anne‐Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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18

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia mā Céline Huber, Eissa Faqeih, Deborah Bartholdi, Christine Bôle‐Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschké, J. Roume, Heloísa G. dos Santos, Stavit Shalev, Andrea Superti‐Furga, Anne‐Lise Delezoide, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

I whakaputaina 2012

Whiwhi kuputuhi katoa
Artigo

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19

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects mā Marc Jeanpierre, G. Macé, Mélanie Parisot, Vincent Morinière, A. Pawtowsky, Max E. Benabou, Jéléna Martinovic, Jeanne Amiel, Tania Attié‐Bitach, Anne‐Lise Delezoide, Philippe Loget, Patricia Blanchet, Dominique Gaillard, M. Gonzalés, Wassila Carpentier, Patrick Nitschké, Frédéric Torès, Laurence Heidet, Corinne Antignac, Rémi Salomon

I whakaputaina 2011

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Artigo

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20

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry mā Sarah Beaussant-Cohen, Odile Fenneteau, Emmanuel Plouvier, Pierre‐Simon Rohrlich, G Daltroff, Isabelle Plantier, A. Dupuy, Delphine Kérob, Blandine Beaupain, Pierre Bordigoni, Fanny Fouyssac, Anne‐Lise Delezoide, Gilles Devouassoux, Jean‐François Nicolas, Philippe Bensaïd, Yves Bertrand, Karl Balabanian, Christine bellanne Chantelot, Françoise Bachelerie, Jean Donadieu

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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