検索結果 - Cormier‐Daire, V

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

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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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. 著者: 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? 著者: 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 著者: 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 著者: 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 著者: 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? 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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? 著者: 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 著者: 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. 著者: 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 著者: 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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