Works matching IS 17501172 AND DT 2012 AND VI 7 AND IP 1

Results: 156

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-78

By:

Papon, Jean-François;
Bassinet, Laurence;
Cariou-Patron, Gwenaëlle;
Zerah-Lancner, Francoise;
Vojtek, Anne-Marie;
Blanchon, Sylvain;
Crestani, Bruno;
Amselem, Serge;
Coste, Andre;
Housset, Bruno;
Escudier, Estelle;
Louis, Bruno

Publication type:

Article

COG5-CDG: expanding the clinical spectrum.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94

By:

Rymen, Daisy;
Keldermans, Liesbeth;
Race, Valérie;
Régal, Luc;
Deconinck, Nicolas;
Dionisi-Vici, Carlo;
Fung, Cheuk-wing;
Sturiale, Luisa;
Rosnoblet, Claire;
Foulquier, François;
Matthijs, Gert;
Jaeken, Jaak

Publication type:

Article

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-61

By:

Kappanayil, Mahesh;
Nampoothiri, Sheela;
Kannan, Rajesh;
Renard, Marjolijn;
Coucke, Paul;
Malfait, Fransiska;
Menon, Swapna;
Ravindran, Hiran K.;
Kurup, Renu;
Faiyaz-Ul-Haque, Muhammad;
Kumar, Krishna;
De Paepe, Anne

Publication type:

Article

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-103

By:

Fernández, Raquel Ma;
Bleda, Marta;
Núñez-Torres, Rocío;
Medina, Ignacio;
Luzón-Toro, Berta;
García-Alonso, Luz;
Torroglosa, Ana;
Marbà, Martina;
Enguix-Riego, Ma Valle;
Montaner, David;
Antiñolo, Guillermo;
Dopazo, Joaquín;
Borrego, Salud

Publication type:

Article

Correction: anorectal malformations.

Published in:

2012

By:

Levitt, Marc A;
Peña, Alberto

Publication type:

Correction Notice

Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-93

By:

Tollånes, Mette C.;
Aarsand, Aasne K.;
Villanger, Jørild Haugen;
Støle, Egil;
Deybach, Jean-Charles;
Marsden, Joanne;
To-Figueras, Jordi;
Sandberg, Sverre

Publication type:

Article

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-71

By:

Cohen, Sarah Beaussant;
Fenneteau, Odile;
Plouvier, Emmanuel;
Rohrlich, Pierre-Simon;
Daltroff, Gerard;
Plantier, Isabelle;
Dupuy, Alain;
Kerob, Delphine;
Beaupain, Blandine;
Bordigoni, Pierre;
Fouyssac, Fanny;
Delezoide, Anne-Lise;
Devouassoux, Gilles;
Nicolas, Jean François;
Bensaid, Philippe;
Bertrand, Yves;
Balabanian, Karl;
Chantelot, Christine Bellanne;
Bachelerie, Françoise;
Donadieu, Jean

Publication type:

Article

Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-74

By:

Hughes-Wilson, Wills;
Palma, Ana;
Schuurman, Ad;
Simoens, Steven

Publication type:

Article

Rescue of nonsense mutations by amlexanox in human cells.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-58

By:

Gonzalez-Hilarion, Sara;
Beghyn, Terence;
Jia, Jieshuang;
Debreuck, Nadège;
Berte, Gonzague;
Mamchaoui, Kamel;
Mouly, Vincent;
Gruenert, Dieter C;
Déprez, Benoit;
Lejeune, Fabrice

Publication type:

Article

Pulmonary langerhans cell histiocytosis.

Published in:

2012

By:

Suri, Harpreet S;
Yi, Eunhee S;
Nowakowski, Gregorz S;
Vassallo, Robert

Publication type:

journal article

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Published in:

2012

By:

Colombo, Elisa A;
Bazan, J Fernando;
Negri, Gloria;
Gervasini, Cristina;
Elcioglu, Nursel H;
Yucelten, Deniz;
Altunay, Ilknur;
Cetincelik, Umram;
Teti, Anna;
Del Fattore, Andrea;
Luciani, Matteo;
Sullivan, Spencer K;
Yan, Albert C;
Volpi, Ludovica;
Larizza, Lidia

Publication type:

journal article

Nijmegen breakage syndrome (NBS).

Published in:

2012

By:

Chrzanowska, Krystyna H;
Gregorek, Hanna;
Dembowska-Baginska, Boenna;
Kalina, Maria A;
Digweed, Martin;
Dembowska-Bagińska, Bożenna

Publication type:

journal article

Gastric lactobezoar - a rare disorder?

Published in:

2012

By:

Heinz-Erian, Peter;
Gassner, Ingmar;
Klein-Franke, Andreas;
Jud, Veronika;
Trawoeger, Rudolf;
Niederwanger, Christian;
Mueller, Thomas;
Meister, Bernhard;
Scholl-Buergi, Sabine

Publication type:

journal article

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Published in:

2012

By:

Salsano, Ettore;
Tabano, Silvia;
Sirchia, Silvia M;
Colapietro, Patrizia;
Castellotti, Barbara;
Gellera, Cinzia;
Rimoldi, Marco;
Pensato, Viviana;
Mariotti, Caterina;
Pareyson, Davide;
Miozzo, Monica;
Uziel, Graziella

Publication type:

journal article

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Published in:

2012

By:

Grünert, Sarah C;
Wendel, Udo;
Lindner, Martin;
Leichsenring, Michael;
Schwab, K Otfried;
Vockley, Jerry;
Lehnert, Willy;
Ensenauer, Regina

Publication type:

journal article

ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure.

Published in:

2012

By:

Qin, Yingying;
Sun, Mei;
You, Li;
Wei, Deying;
Sun, Jielin;
Liang, Xiaoyan;
Zhang, Bo;
Jiang, Hong;
Xu, Jianfeng;
Chen, Zi-Jiang

Publication type:

journal article

Chromosome 15q24 microdeletion syndrome.

Published in:

2012

By:

Magoulas, Pilar L;
El-Hattab, Ayman W

Publication type:

journal article

Congenital diaphragmatic hernia.

Published in:

2012

By:

Tovar, Juan A

Publication type:

journal article

Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine.

Published in:

2012

By:

Ponte, Filipa;
Sousa, Rosa;
Fernandes, Ana Paula;
Gonçalves, Cristina;
Barbot, José;
Carvalho, Félix;
Porto, Beatriz

Publication type:

journal article

Cystinuria: an inborn cause of urolithiasis.

Published in:

2012

By:

Eggermann, Thomas;
Venghaus, Andreas;
Zerres, Klaus

Publication type:

journal article

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.

Published in:

2012

By:

de Ru, Minke H;
Teunissen, Quirine Ga;
van der Lee, Johanna H;
Beck, Michael;
Bodamer, Olaf A;
Clarke, Lorne A;
Hollak, Carla E;
Lin, Shuan-Pei;
Rojas, Maria-Verónica Muñoz;
Pastores, Gregory M;
Raiman, Julian A;
Scarpa, Maurizio;
Treacy, Eileen P;
Tylki-Szymanska, Anna;
Wraith, J Edmond;
Zeman, Jiri;
Wijburg, Frits A

Publication type:

journal article

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Published in:

2012

By:

Audo, Isabelle;
Bujakowska, Kinga M;
Léveillard, Thierry;
Mohand-Saïd, Saddek;
Lancelot, Marie-Elise;
Germain, Aurore;
Antonio, Aline;
Michiels, Christelle;
Saraiva, Jean-Paul;
Letexier, Mélanie;
Sahel, José-Alain;
Bhattacharya, Shomi S;
Zeitz, Christina

Publication type:

journal article

Public support for neonatal screening for Pompe disease, a broad-phenotype condition.

Published in:

2012

By:

Weinreich, Stephanie Shifra;
Rigter, Tessel;
van El, Carla Geertruida;
Dondorp, Wybo Jan;
Kostense, Pieter Johannes;
van der Ploeg, Ans T;
Reuser, Arnold J J;
Cornel, Martina Cornelia;
Hagemans, Marloes Louise Catharina

Publication type:

journal article

Endocrine manifestations related to inherited metabolic diseases in adults.

Published in:

2012

By:

Vantyghem, Marie-Christine;
Dobbelaere, Dries;
Mention, Karine;
Wemeau, Jean-Louis;
Saudubray, Jean-Marie;
Douillard, Claire

Publication type:

journal article

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Published in:

2012

By:

Giraldo, Pilar;
Alfonso, Pilar;
Irún, Pilar;
Gort, Laura;
Chabás, Amparo;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Sá Miranda, Clara M;
Pocovi, Miguel

Publication type:

journal article

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Published in:

2012

By:

Engelen, Marc;
Kemp, Stephan;
de Visser, Marianne;
van Geel, Björn M;
Wanders, Ronald Ja;
Aubourg, Patrick;
Poll-The, Bwee Tien;
Wanders, Ronald J A

Publication type:

journal article

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Published in:

2012

By:

Magoulas, Pilar L;
El-Hattab, Ayman W

Publication type:

journal article

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Published in:

2012

By:

Baek, Jeong-In;
Oh, Se-Kyung;
Kim, Dong-Bin;
Choi, Soo-Young;
Kim, Un-Kyung;
Lee, Kyu-Yup;
Lee, Sang-Heun

Publication type:

journal article

Al amyloidosis.

Published in:

2012

By:

Desport, Estelle;
Bridoux, Frank;
Sirac, Christophe;
Delbes, Sébastien;
Bender, Sébastien;
Fernandez, Béatrice;
Quellard, Nathalie;
Lacombe, Corinne;
Goujon, Jean-Michel;
Lavergne, David;
Abraham, Julie;
Touchard, Guy;
Fermand, Jean-Paul;
Jaccard, Arnaud;
Centre national de référence pour l'amylose AL et les autres maladies par dépôts d'immunoglobulines monoclonales;
Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales

Publication type:

journal article

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Published in:

2012

By:

Romdhane, Lilia;
Kefi, Rym;
Azaiez, Hela;
Halim, Nizar Ben;
Dellagi, Koussay;
Abdelhak, Sonia;
Ben Halim, Nizar

Publication type:

journal article

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Published in:

2012

By:

Juan-Mateu, Jonàs;
Rodríguez, Maria José;
Nascimento, Andrés;
Jiménez-Mallebrera, Cecilia;
González-Quereda, Lidia;
Rivas, Eloy;
Paradas, Carmen;
Madruga, Marcos;
Sánchez-Ayaso, Pedro;
Jou, Cristina;
González-Mera, Laura;
Munell, Francina;
Roig-Quilis, Manuel;
Rabasa, Maria;
Hernández-Lain, Aurelio;
Díaz-Manera, Jorge;
Gallardo, Eduard;
Pascual, Jordi;
Verdura, Edgard;
Colomer, Jaume

Publication type:

journal article

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Published in:

2012

By:

Ohlenbusch, Andreas;
Edvardson, Simon;
Skorpen, Johannes;
Bjornstad, Alf;
Saada, Ann;
Elpeleg, Orly;
Gärtner, Jutta;
Brockmann, Knut

Publication type:

journal article

Genetic testing in diffuse parenchymal lung disease.

Published in:

2012

By:

Spagnolo, Paolo;
Luppi, Fabrizio;
Cerri, Stefania;
Richeldi, Luca

Publication type:

journal article

Behçet's disease.

Published in:

2012

By:

Saadoun, David;
Wechsler, Bertrand

Publication type:

journal article

A generalizable pre-clinical research approach for orphan disease therapy.

Published in:

2012

By:

Beaulieu, Chandree L;
Samuels, Mark E;
Ekins, Sean;
McMaster, Christopher R;
Edwards, Aled M;
Krainer, Adrian R;
Hicks, Geoffrey G;
Frey, Brendan J;
Boycott, Kym M;
Mackenzie, Alex E

Publication type:

journal article

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

Published in:

2012

By:

van Karnebeek, Clara D M;
Houben, Roderick F A;
Lafek, Mirafe;
Giannasi, Wynona;
Stockler, Sylvia

Publication type:

journal article

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

Published in:

2012

By:

Alba-Domínguez, María;
López-Lera, Alberto;
Garrido, Sofía;
Nozal, Pilar;
González-Granado, Ignacio;
Melero, Josefa;
Soler-Palacín, Pere;
Cámara, Carmen;
López-Trascasa, Margarita

Publication type:

journal article

Cushing's disease.

Published in:

2012

By:

Castinetti, Frederic;
Morange, Isabelle;
Conte-Devolx, Bernard;
Brue, Thierry

Publication type:

journal article

A national internet-linked based database for pediatric interstitial lung diseases: the French network.

Published in:

2012

By:

Nathan, Nadia;
Taam, Rola Abou;
Epaud, Ralph;
Delacourt, Christophe;
Deschildre, Antoine;
Reix, Philippe;
Chiron, Raphaël;
de Pontbriand, Ulrika;
Brouard, Jacques;
Fayon, Michaël;
Dubus, Jean-Christophe;
Giovannini-Chami, Lisa;
Bremont, François;
Bessaci, Katia;
Schweitzer, Cyril;
Dalphin, Marie-Laure;
Marguet, Christophe;
Houdouin, Véronique;
Troussier, Françoise;
Sardet, Anne

Publication type:

journal article

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Published in:

2012

By:

Nicolas, Aurélie;
Lucchetti-Miganeh, Céline;
Yaou, Rabah Ben;
Kaplan, Jean-Claude;
Chelly, Jamel;
Leturcq, France;
Barloy-Hubler, Frédérique;
Le Rumeur, Elisabeth

Publication type:

journal article

The empowerment of translational research: lessons from laminopathies.

Published in:

2012

By:

Benedetti, Sara;
Bernasconi, Pia;
Bertini, Enrico;
Biagini, Elena;
Boriani, Giuseppe;
Capanni, Cristina;
Carboni, Nicola;
Cenacchi, Giovanna;
Columbaro, Marta;
D'Adamo, Monica;
D'Amico, Adele;
D'Apice, Maria Rosaria;
Fontana, Marianna;
Gambineri, Alessandra;
Lattanzi, Giovanna;
Liguori, Rocco;
Maraldi, Nadir M;
Mazzanti, Laura;
Mercuri, Eugenio;
Mongini, Tiziana

Publication type:

Letter

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study.

Published in:

2012

By:

Pierucci, Paola;
Lenato, Gennaro M;
Suppressa, Patrizia;
Lastella, Patrizia;
Triggiani, Vincenzo;
Valerio, Raffaella;
Comelli, Mario;
Salvante, Daniela;
Stella, Alessandro;
Resta, Nicoletta;
Logroscino, Giancarlo;
Resta, Francesco;
Sabbà, Carlo

Publication type:

journal article

Hypoglycaemia related to inherited metabolic diseases in adults.

Published in:

2012

By:

Douillard, Claire;
Mention, Karine;
Dobbelaere, Dries;
Wemeau, Jean-Louis;
Saudubray, Jean-Marie;
Vantyghem, Marie-Christine

Publication type:

journal article

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.

Published in:

2012

By:

Casarin, Alberto;
Giorgi, Gianpietro;
Pertegato, Vanessa;
Siviero, Roberta;
Cerqua, Cristina;
Doimo, Mara;
Basso, Giuseppe;
Sacconi, Sabrina;
Cassina, Matteo;
Rizzuto, Rosario;
Brosel, Sonja;
M Davidson, Mercy;
Dimauro, Salvatore;
Schon, Eric A;
Clementi, Maurizio;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

journal article

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.

Published in:

2012

By:

Papon, Jean-François;
Bassinet, Laurence;
Cariou-Patron, Gwenaëlle;
Zerah-Lancner, Francoise;
Vojtek, Anne-Marie;
Blanchon, Sylvain;
Crestani, Bruno;
Amselem, Serge;
Coste, Andre;
Housset, Bruno;
Escudier, Estelle;
Louis, Bruno

Publication type:

journal article

Rescue of nonsense mutations by amlexanox in human cells.

Published in:

2012

By:

Gonzalez-Hilarion, Sara;
Beghyn, Terence;
Jia, Jieshuang;
Debreuck, Nadège;
Berte, Gonzague;
Mamchaoui, Kamel;
Mouly, Vincent;
Gruenert, Dieter C;
Déprez, Benoit;
Lejeune, Fabrice

Publication type:

journal article

Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.

Published in:

2012

By:

Boëlle, Pierre-Yves;
Viviani, Laura;
Busson, Pierre-Francois;
Olesen, Hanne V;
Ravilly, Sophie;
Stern, Martin;
Assael, Baroukh M;
Barreto, Celeste;
Drevinek, Pavel;
Thomas, Muriel;
Krivec, Uros;
Mei-Zahav, Meir;
Vibert, Jean-François;
Clement, Annick;
Mehta, Anil;
Corvol, Harriet;
French CF Modifier Gene Study Investigators;
European CF Registry Working Group

Publication type:

journal article

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Published in:

2012

By:

Whybra, Catharina;
Mengel, Eugen;
Russo, Alexandra;
Bahlmann, Franz;
Kampmann, Christoph;
Beck, Michael;
Eich, Elke;
Mildenberger, Eva

Publication type:

journal article

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.

Published in:

2012

By:

Walterfang, Mark;
Chien, Yin-Hsiu;
Imrie, Jackie;
Rushton, Derren;
Schubiger, Danielle;
Patterson, Marc C

Publication type:

journal article

Advanced therapies for the treatment of hemophilia: future perspectives.

Published in:

2012

By:

Liras, Antonio;
Segovia, Cristina;
Gabán, Aline S

Publication type:

journal article