The Antley-Bixler syndrome : report of two familial cases with severe renal and anal anomalies von LEHEUP, B. P, MASUTTI, J. P, DROULLE, P, TISSERAND, J

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Immunohistochemical localization of insulin-like growth factor I (IGF-I) in the rat epididymis von Leheup, B. P, Grignon, G

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Immunolocalization of type IV collagen and laminin during rat gonadal morphogenesis and postnatal development of the testis and epididymis von Gelly, J. L., Richoux, J. P., Leheup, B. P., Grignon, G.

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Growth hormone response following growth hormone releasing hormone injection in thalassemia major : influence of pubertal development von LEHEUP, B. P, CISTERNINO, M, BOZZOLA, M, DOUSSET, B, MARRADI, P. L, ANTONIAZZI, F, TATO, L, SEVERI, F, SOMMELET, D, PIERSON, M

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Anionic sites of the basement membrane of rat seminiferous tubules during ontogenesis von LEHEUP, B. P, GELLY, J.-L, DELONGEAS, J.-L, GRIGNON, G

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Anionic sites in the basement membrane of the rat epididymal epithelium during ontogenesis and after testicular and gonadal tract lesions von DELONGEAS, J.-L, LEHEUP, B. P, GELLY, J.-L, GRIGNON, G

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Plasma 6-keto prostaglandin F1α and thromboxane B2 in sick preterm neonates von HUTCHISON, A. A, OGLETREE, M. L, PALME, C. J. H, LEHEUP, B. P, BARRETT, J. M, FLEISCHER, A. C, STAHLMAN, M. T, BRIGHAM, K. L

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60 AUXOLOGICAL FOLLOW-UP OF 32 PATIENTS AFTER BONE MARROW TRANSPLANTATION (BMT) BEFORE 14 YEARS OF LIFE von Leheup, B P, Bordigoni, P, Olive, D, Pierson, M

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163 ADRENAL RESPONSE DURING THE GRAFT-VERSUS-HOST (GVH) IN AN AVIAN MODEL von Janati, M, LeHeup, B P, Gérard, A, Williams, J, Grignon, G, Gérard, H, Pierson, M

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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech von Bonnet, C, Andrieux, J, Béri-Dexheimer, M, Leheup, B, Boute, O, Manouvrier, S, Delobel, B, Copin, H, Receveur, A, Mathieu, M, Thiriez, G, Le Caignec, C, David, A, de Blois, M C, Malan, V, Philippe, A, Cormier-Daire, V, Colleaux, L, Flori, E, Dollfus, H, Pelletier, V, Thauvin-Robinet, C, Masurel-Paulet, A, Faivre, L, Tardieu, M, Bahi-Buisson, N, Callier, P, Mugneret, F, Edery, P, Jonveaux, P, Sanlaville, D

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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome von Guissart, Claire, Li, Xiuju, Leheup, Bruno, Drouot, Nathalie, Montaut-Verient, Bettina, Raffo, Emmanuel, Jonveaux, Philippe, Roux, Anne-Françoise, Claustres, Mireille, Fliegel, Larry, Koenig, Michel

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities von D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J. R. A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne B. M, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

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Deciphering the natural history of SCA7 in children von Bah, M. G., Rodriguez, D., Cazeneuve, C., Mochel, F., Devos, D., Suppiej, A., Roubertie, A., Meunier, I., Gitiaux, C., Curie, A., Klapczynski, F., Allani‐Essid, N., Carneiro, M., Van Minkelen, R., Kievit, A., Fluss, J., Leheup, B., Ratbi, L., Héron, D., Gras, D., Do Cao, J., Pichard, S., Strubi‐Villaume, I., Audo, I., Lesca, G., Charles, P., Dubois, F., Comet‐Didierjean, P., Capri, Y., Barondiot, C., Barathon, M., Ewenczyk, C., Durr, A., Mignot, C.

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Pathophysiology of impaired ovarian function in galactosaemia von Forges, T., Monnier-Barbarino, P., Leheup, B., Jouvet, P.

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Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families von Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, Paillerets, B Bressac-de, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T

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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood von Fiot, Elodie, Zénaty, Delphine, Boizeau, Priscilla, Haignere, Jérémie, Dos Santos, Sophie, Léger, Juliane

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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families von Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V

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30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case von Do Cao, J., Wiedemann, A., Quinaux, T., Battaglia-Hsu, S.F., Mainard, L., Froissart, R., Bonnemains, C., Ragot, S., Leheup, B., Journeau, P., Feillet, F.

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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting von Soilly, A L, Robert-Viard, C, Besse, C, Bruel, A L, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, M L, Deleuze, J F, Binquet, C, Thauvin-Robinet, C, Lejeune, C

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Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature von Agopiantz, M., Corbonnois, P., Sorlin, A., Bonnet, C., Klein, M., Hubert, N., Pascal-Vigneron, V., Jonveaux, P., Cuny, T., Leheup, B., Weryha, G.

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