Resultados da busca - Cormier‐Daire, V

High incidence of SHOX anomalies in individuals with short stature por Huber, C, Rosilio, M, Munnich, A, Cormier‐Daire, V

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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? por Amiel, J., Cormier-Daire, V., Journeau, P., Mussat, P., Munnich, A., Lyonnet, S.

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Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation por Cormier-Daire, V., Chauvet, M., Lyonnet, S., Briard, M., Munnich, A., Le Merrer, M.

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Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD por Borochowitz, Z, Scheffer, D, Adir, V, Dagoneau, N, Munnich, A, Cormier-Daire, V

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Sulphate transporter gene mutations in apparently isolated club foot por HUBER, C, ODENT, S, RUMEUR, S, PADOVANI, P, PENET, C, CORMIER-DAIRE, V, MUNNICH, A, LE MERRER, M

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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male por Imessaoudene, B., Bonnefont, J., Royer, G., Cormier-Daire, V., Lyonnet, S., Lyon, G., Munnich, A., Amiel, J.

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Genetic heterogeneity of Meckel syndrome. por Roume, J, Ma, H W, Le Merrer, M, Cormier-Daire, V, Girlich, D, Genin, E, Munnich, A

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Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome? por Amiel, J, Faivre, L, Wilson, L, Le Merrer, M, Munnich, A, Winter, R, Lyonnet, S, Cormier-Daire, V

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Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism por CORMIER-DAIRE, V, AMIEL, J, VUILLAUMIER-BARRO..., S, TAN, J, DURAND, G, MUNNICH, A, LE MERRER, M, SETA, N

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SHOX point mutations in dyschondrosteosis por Huber, C., Cusin, V., Le Merrer, M., Mathieu, M., Sulmont, V., Dagoneau, N., Munnich, A., Cormier-Daire, V.

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Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type por Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.

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Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? por Cormier-Daire, V, Molinari, F, Rio, M, Raoul, O, de Blois, M-C, Romana, S, Vekemans, M, Munnich, A, Colleaux, L

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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families por Cormier-Daire, V, Huber, C, Baujat, J, Caumes, R, Kayirangwa, H, Le Merrer, M, Le Quan Sang, KH, Munnich, A

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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients por Vuillaumier-Barro..., S., Hetet, G., Barnier, A., Dupre, T., Cuer, M., de Lonlay, P., Cormier-Daire, V., Durand, G., Grandchamp, B., Seta, N.

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Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 por Faivre, L, Le Merrer, M, Al-Gazali, L, Ausems, M, Bitoun, P, Bacq, D, Maroteaux, P, Munnich, A, Cormier-Daire, V

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Myhre syndrome: new reports, review, and differential diagnosis por Burglen, L, Heron, D, Moerman, A, Dieux-Coeslier, A, Bourguignon, J, Bachy, A, Carel, J, Cormier-Daire, V, Manouvrier, S, Verloes, A

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Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? por Holder-Espinasse, M, Marie, S, Bourrouillou, G, Ceballos-Picot, I, Nassogne, M, Faivre, L, Amiel, J, Munnich, A, Vincent, M, Cormier-Daire, V

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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome por Borck, G, Redon, R, Sanlaville, D, Rio, M, Prieur, M, Lyonnet, S, Vekemans, M, Carter, N, Munnich, A, Colleaux, L, Cormier-Daire, V

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A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. por von Kleist-Retzow, J C, Cormier-Daire, V, de Lonlay, P, Parfait, B, Chretien, D, Rustin, P, Feingold, J, Rötig, A, Munnich, A

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A new lethal syndrome of exomphalos, short limbs, and macrogonadism por Faivre, L., Delezoide, A., Narcy, F., Razavi, F., Bouvier, R., Cormier-Daire, V., Briard, M., Lyonnet, S., Vekemans, M., Munnich, A., Le Merrer, M.

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