Works matching IS 17501172 AND DT 2012 AND VI 7

Results: 209

The role of SH3BP2 in the pathophysiology of cherubism.

Published in:

2012

By:

Reichenberger, Ernst J;
Levine, Michael A;
Olsen, Bjorn R;
Papadaki, Maria E;
Lietman, Steven A

Publication type:

journal article

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.

Published in:

2012

By:

Collins, Michael T;
Singer, Frederick R;
Eugster, Erica

Publication type:

journal article

Pathophysiology and medical treatment of pain in fibrous dysplasia of bone.

Published in:

2012

By:

Chapurlat, Roland D;
Gensburger, Deborah;
Jimenez-Andrade, Juan M;
Ghilardi, Joseph R;
Kelly, Marilyn;
Mantyh, Patrick

Publication type:

journal article

The surgical management of fibrous dysplasia of bone.

Published in:

2012

By:

Stanton, Robert P;
Ippolito, Ernesto;
Springfield, Dempsey;
Lindaman, Lynn;
Wientroub, Shlomo;
Leet, Arabella

Publication type:

journal article

Clinical guidelines for the management of craniofacial fibrous dysplasia.

Published in:

2012

By:

Lee, J S;
FitzGibbon, E J;
Chen, Y R;
Kim, H J;
Lustig, L R;
Akintoye, S O;
Collins, M T;
Kaban, L B

Publication type:

journal 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

Cherubism: best clinical practice.

Published in:

2012

By:

Papadaki, Maria E;
Lietman, Steven A;
Levine, Michael A;
Olsen, Bjorn R;
Kaban, Leonard B;
Reichenberger, Ernst J

Publication type:

journal 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

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

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

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

First German Academy for Further Medical Training on Rare Diseases (FAKSE, http://www.fakse.info).

Published in:

2012

By:

Giehl, Julia;
Graessner, Holm;
Riess, Olaf

Publication type:

Abstract

A route map for the patients journey.

Published in:

2012

By:

Pierri, Paola

Publication type:

Abstract

Patient perspective on CT Involvement: are they listening to my needs?

Published in:

2012

By:

Pypops, Ulrike

Publication type:

Abstract

Is more involvement needed in the clinical trial design & endpoints?

Published in:

2012

By:

Vroom, Elizabeth

Publication type:

Abstract

Developing a cure for Black Bone Disease.

Published in:

2012

By:

Sireau, Nicolas T.

Publication type:

Abstract

Climb's black and ethnic minority information project (BEMIS).

Published in:

2012

By:

Hannigan, Steve

Publication type:

Abstract

The democratic problem in the knowledge society of today: Rare Disorders Denmark's documentation strategy.

Published in:

2012

By:

Lind, Ane;
Jensen, Lene;
Holm, Birthe B.

Publication type:

Abstract

Rare family days: a family empowerment programme.

Published in:

2012

By:

Lind, Ane;
Jensen, Lene;
Holm, Birthe B.

Publication type:

Abstract

The political empowerment of rare disease patient advocates both at EU and national level.

Published in:

2012

By:

Andersen, Terkel

Publication type:

Abstract

The emergence of the cause of rare diseases and rare disease patients' movement.

Published in:

2012

By:

Huyard, Caroline

Publication type:

Abstract

The psychological processes involved in patient empowerment.

Published in:

2012

By:

Aujoulat, Isabelle;
Young, Bridget;
Salmon, Peter

Publication type:

Abstract

Listening to children's and parents' voices: using patient reported outcomes to empower patients with orphan diseases and their parents.

Published in:

2012

By:

Abetz-Webb, Linda

Publication type:

Abstract

From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases.

Published in:

2012

By:

Weinreich, Stephanie S.;
Vrinten, Charlotte;
Verschuuren, Jan J. G. M.;
Uyl-de Groot, Carin A.;
Kuijpers, Marja R.;
Sterrenburg, Ellen;
Scholten, Rob J. P. M.;
van Bezooijen, Cees F. R. M.;
Timmen, Marcel F. T. H.;
van Weely, Sonja;
Cornel, Martina C.

Publication type:

Abstract

Compassionate use programmes for rare diseases: proposals for actions.

Published in:

2012

By:

Houÿez, François;
Bélorgey, Chantal;
North, Arielle;
Czondi, Etelka;
di Paola, Michele Lipucci

Publication type:

Abstract

Leveraging existing opportunities for improved Orphan Drug approval in the EU.

Published in:

2012

By:

Edfjäll, Catarina

Publication type:

Abstract

Market access of orphan drugs and the role of multi-criteria decision making.

Published in:

2012

By:

Simoens, Steven

Publication type:

Abstract

A coordinated EU approach to informed access decisions: CAVOD process proposals - the possibility to turn concept into reality?

Published in:

2012

By:

Hughes-Wilson, Wills

Publication type:

Abstract

Mechanism of coordinated access to orphan drugs.

Published in:

2012

By:

DeRidder, R.;
Adriaens, C.;
Kleinermans, D.;
Mortier, M.;
Quanten, A.;
Arickx, F.

Publication type:

Abstract

Value and specificity of rare diseases business model-is the pursuit of this societal priority sustainable?

Published in:

2012

By:

Dunoyer, M.;
Rollet, P.

Publication type:

Abstract

EPIRARE survey on activities and needs of rare disease registries in the European Union.

Published in:

2012

By:

Taruscio, Domenica;
Gainotti, Sabina;
Vittozzi, Luciano;
Bianchi, Fabrizio;
Ensini, Monica;
Posada, Manuel

Publication type:

Abstract

Fighting for the cures of rare genetic diseases: worthy ideas and promising results demand for strategic research management and for integration of competences and efforts.

Published in:

2012

By:

Sofia, Francesca

Publication type:

Abstract

Exon skipping for DMD.

Published in:

2012

By:

Aartsma-Rus, Annemieke;
Verschuuren, Jan J. G. M.;
Campion, Giles V.;
van Ommen, Gert-jan B.;
van Deutekom, Judith C. T.

Publication type:

Abstract

Finding new medicines to fight CF: multiple steps of a success story.

Published in:

2012

By:

Amaral, Margarida D.

Publication type:

Abstract

Spina Bifida and primary prevention.

Published in:

2012

By:

Mertens, Pierre

Publication type:

Abstract

HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity.

Published in:

2012

By:

Autti-Rämö, Ilona

Publication type:

Abstract

Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change.

Published in:

2012

By:

Robinson, Peter N.

Publication type:

Abstract

The Italian project to increase health professionals' training and awareness on rare diseases.

Published in:

2012

By:

Bellagambi, Simona

Publication type:

Abstract

The involvement of patients in developing clinical guidelines.

Published in:

2012

By:

Parkinson, Kay

Publication type:

Abstract

How reference networks develop, implement, and monitor guidelines.

Published in:

2012

By:

Kirschner, Jan;
Rodger, Sunil;
Vry, Julia;
Gramsch, Kathrin;
Lochmüller, Hanns;
Bushby, Kate

Publication type:

Abstract

Professional clinical guidelines for rare diseases: methodology.

Published in:

2012

By:

Kremp, Odile;
Dosquet, Patrice;
Rath, Ana

Publication type:

Abstract

Speeding up research with the Semantic Web.

Published in:

2012

By:

Roos, Marco;
Schultes, Erik A.;
Mons, Barend

Publication type:

Abstract

Training medical students on rare disorders.

Published in:

2012

By:

Byrne, Paula C.

Publication type:

Abstract

Developing a national plan for rare diseases in Germany through concerted action: the national action league for people with rare diseases.

Published in:

2012

By:

Héon-Klin, Véronique;
Halbach, Alexandra;
Schlangen, Miriam;
Schnieders, Birgit

Publication type:

Abstract

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD).

Published in:

2012

By:

Rodger, Sunil;
Steffensen, Birgit F.;
Lochmüller, Hanns

Publication type:

Abstract

Can the cross-borders directive improve the quality of genetic testing in the future?

Published in:

2012

By:

Cassiman, Jean-Jacques

Publication type:

Abstract