Výsledky vyhledávání

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Autor: Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul Darmency, V, Thauvin Robinet, C, Franco, B, OFD1 Collaborative Group including Bankier A, Oral Facial Digital Type I., White, S, Collins, F, Gardner, M, Keeling, Sl, Tan, T, Mcgaughran, J, Mckenzie, F, Lhotta, K, Abdulla, F, Destree, A, Devriendt, K, Matthijs, G, Ferrier, R, Mcleod, Dr, Friedman, Jm, Heran, H, Graham, Ge, Klatt, R, Teebi, A, Jensen, P, Gilbert, B, Marlin, S, Trousseau, A, Toutain, A, David, A, Odent, S, Héron, D, Burglen, L, Rio, M, Jouk, Ps, Plessis, G, Lespinasse, J, Giuliano, F, Turc Carel, C, Betz, Rc, Heim, S, Klehr Martinelli, M, Kotzot, D, Minnerop, M, Schell Apacik, C, Gal, A, Orth, U, Gillessen Kaesbach, G, Zoll, B, Mucke, J, Tzschach, A, Godde, E, Carmi, R, Brunetti, N, Scarcella, A, Castelluccio, P, Castellan, C, Gerola, O, Bigoni, S, Zelante, L, Foggia, S, Sabato, A, Bianchini, G, Nuova, As, Virdis, R, Ferrero, Giovanni Battista, Selicorni, A, Gurrieri, F, Cuore, S, Megarbane, A, Chiong, Ma, Cutiongco, Em, Obersztyn, E, Kutkowska Kazmierczak, A, Mota, Cr, de Magalhaes, D, Stevanovic, G, Del Pozo JS, Barcina, Mg, Iwarsson, E, Graber, V, Okhowat, R, Shinzel, A, Brunner, Hg, Krapels, I, Hovers, V, Beemer, Fa, Terhal, P, Rump, P, Elcioglu, N, Toprak, O, Burn, J, Henderson, A, Jones, E, Dean, J, Castle, B, Macdonald, F, Farndon, P, Williams, D, Homfray, T, Lees, M, Loughlin, S, Raymond, Fl, Trump, D, Whittaker, J, Smithson, S, Rankin, J, Turner, C, Bird, L, Chibuk, J, Masser Frye, D, Sell, S, Amy, S, Schafer, I, Bartoshesky, Le, Jenny, K, Benke, P, Curry, C, Swenerton, A, Treisman, T, Dunlap, Jw, Shashi, V, Reich, E, Reimschisel, T, Pfau, R, Pober, B, Robertson, J, Roggenbuck, J, Thiese, H.

Publikováno v: Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous syst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ce4117a09b52e55c5f27f15a27823e

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Acute gastric volvulus and congenital posterolateral diaphragmatic hernia

Autor: Requeijo D, Enes C, Ferreira P, Leitão B, Vieira P, Mota Cr

Publikováno v: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie. 7(2)

Le volvulus gastrique aigu est une pathologie rare chez les nourrissons et constitue une veritable urgence chirurgicale. L'evocation clinique rapide, la confirmation radiologique sont essentielles pour obtenir un resultat correct. Nous rapportons l'o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de1ea16731244c61812878518472537
https://pubmed.ncbi.nlm.nih.gov/9165258

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Dissertation/ Thesis

Avaliação da estabilidade microestrutural e sua relação com as propriedades magnéticas de um aço inoxidável dúplex UNS S32304

Autor: Mota, Cristiane Fátima Guimarães Silveira

Os aços inoxidáveis dúplex possuem uma estrutura bifásica (ferrita e austenita) geralmente em frações aproximadamente iguais. Devido aos altos teores de Cr e Ni, esses aços apresentam alta resistência à corrosão e, por isso, são usados pri

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/97/97134/tde-04122018-135202/

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Dissertation/ Thesis

Avaliação do impacto de um programa de exercícios físicos para pessoas com síndrome de Down

Autor: Mota, Cristiane Gonçalves da

A síndrome de Down (SD) é a alteração cromossômica mais comum nos seres humanos e traz consigo algumas co-morbidades como: hipotonia muscular, baixo condicionamento cardiorrespiratório e obesidade. A prática de exercícios físicos diminui o r

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/5/5169/tde-31012018-084833/

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Akademický článek

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Autor: Prattichizzo, C, Macca, M, Novelli, V, Giorgio, G, Barra, A, Franco, B, OFDI COLLABORATIVE GROUP ABDULLA F, ORAL FACIAL DIGITAL TYPE I., Abramowicz, M, Amy, S, Schafer, I, Bankier, A, White, S, Barcina, Mg, Bartoshesky, Le, Jenny, K, Beemer, Fa, Benke, P, Betz, Rc, Bianchini, G, Garavelli, L, Bigoni, S, Bird, L, Chibuk, J, MASSER FRYE, D, Brunetti, N, Scarcella, A, Brunner, Hg, Burn, J, Carmi, R, Castellan, C, Castelluccio, P, Castle, B, Chiong, Ma, Cutiongco, Em, Collins, F, Couchon, E, Curry, A, Pastore, M, Curry, C, Swenerton, A, Treisman, T, Dean, J, Devriendt, K, Matthijs, G, Dunlap, Jw, Shashi, V, Elcioglu, N, Farndon, P, Ferrero, Gb, Ferrier, R, Foulds, N, Friedman, Jm, Gal, A, Orth, U, Gardner, M, Gerola, O, GILLESSEN KAESBACH, G, Giuliano, F, TURC CAREL, C, Gödde, E, Graber, V, Graham, Ge, Gurrieri, F, Harbour, L, Henderson, A, Jones, E, Heran, H, Homfray, T, Taylor, R, Iwarsson, E, Jensen, P, JEZELA STANEK, A, Joss, S, Taylor, G, Keeling, Sl, Klatt, R, Teebi, A, KLEHR MARTINELLI, M, Kotzot, D, Lees, M, Loughlin, S, Lhotta, K, Macdonald, F, Mari, Francesca, Renieri, Alessandra, Marlin, S, Mcgaughran, J, Mckenzie, F, Mcleod, Dr, Megarbane, A, Mota, Cr, Mucke, J, Tzschach, A, Obersztyn, E, Okhowat, R, Shinzel, A, Pfau, R, Pober, B, Raymond, Fl, Reich, E, Reimschisel, T, Robertson, J, Roggenbuck, J, Sabato, A, SANCHEZ DEL POZO, J, SCHELL APACIK, C, Schwaab, E, Selicorni, A, Sell, S, Smithson, S, STRAY PEDERSEN, A, Tan, T, Thiese, H, Tol, J, Toprak, O, Trump, D, Whittaker, J, Williams, D, Zelante, L, Zoll, B.

Publikováno v: Human Mutation, 29, 10, pp. 1237-46
Human Mutation, 29, 1237-46

Contains fulltext : 70803.pdf (Publisher’s version ) (Closed access) Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887ba5286d33e0747592d976182a6e79

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Dissertation/ Thesis

Influência de diferentes condições de cultivo na formação de biofilme por Escherichia coli enteropatogênica atípica (EPECa) e pesquisa de genes relacionados.

Autor: Mota, Cristiane Moda

EPECa tem sido identificada como o principal agente de diarreia aguda em crianças de países em desenvolvimento. Biofilmes são estruturas bacterianas envoltas por uma matriz de exopolissacarídeos. O objetivo deste estudo foi verificar a influênci

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/87/87131/tde-06122014-083305/

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