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  1. Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was t...

    Authors: Tu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, Cédric Vialette, Salah Ferkal, Smaïl Hadj-Rabia, Christophe Glorion, Stanislas Lyonnet, Michel Zerah, Isabelle Kemlin, Diana Rodriguez, Sylvie Bastuji-Garin and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2011 6:18

    Content type: Research

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  2. Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their...

    Authors: Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi and Adriano Angioni

    Citation: Orphanet Journal of Rare Diseases 2011 6:17

    Content type: Case Report

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  3. Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and...

    Authors: Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé and Jeremy Manuel

    Citation: Orphanet Journal of Rare Diseases 2011 6:16

    Content type: Review

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  4. Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. Less than 40 published cases of HSS have been described in Eng...

    Authors: Umair Khalid and Taimur Saleem

    Citation: Orphanet Journal of Rare Diseases 2011 6:15

    Content type: Review

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  5. Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pi...

    Authors: Tawhida Y Abdel Ghaffar, Ezzat S Elsobky and Solaf M Elsayed

    Citation: Orphanet Journal of Rare Diseases 2011 6:13

    Content type: Case Report

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  6. terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, micro...

    Authors: Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti and Giorgio Gimelli

    Citation: Orphanet Journal of Rare Diseases 2011 6:12

    Content type: Case Report

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  7. Amyotrophic lateral sclerosis (ALS) is one of the most devastating neurodegenerative diseases. Neurotrophic factors have been widely tested to counteract neurodegenerative conditions, despite their unspecific ...

    Authors: Ana C Calvo, María Moreno-Igoa, Renzo Mancuso, Raquel Manzano, Sara Oliván, María J Muñoz, Clara Penas, Pilar Zaragoza, Xavier Navarro and Rosario Osta

    Citation: Orphanet Journal of Rare Diseases 2011 6:10

    Content type: Research

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  8. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and ...

    Authors: Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid and Daniel Guerrier

    Citation: Orphanet Journal of Rare Diseases 2011 6:9

    Content type: Research

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  9. It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. ...

    Authors: Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga and Faustina Lalatta

    Citation: Orphanet Journal of Rare Diseases 2011 6:7

    Content type: Case Report

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  10. Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Amalia Sertedaki, Talia Kakourou, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian

    Citation: Orphanet Journal of Rare Diseases 2011 6:6

    Content type: Erratum

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2010 5:33

  11. Systemic sclerosis (scleroderma; SSc) is an orphan disease with the highest case-specific mortality of any connective-tissue disease. Excessive collagen deposit in affected tissues is a key for the disease's p...

    Authors: Rachel Riera, Luís EC Andrade, Alexandre WS Souza, Cristiane Kayser, Edison T Yanagita and Virgínia FM Trevisani

    Citation: Orphanet Journal of Rare Diseases 2011 6:5

    Content type: Research

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  12. Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, w...

    Authors: Jean-Philippe Camdessanché, Véronique V Belzil, Guillemette Jousserand, Guy A Rouleau, Christelle Créac'h, Philippe Convers and Jean-Christophe Antoine

    Citation: Orphanet Journal of Rare Diseases 2011 6:4

    Content type: Case Report

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  13. Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetri...

    Authors: Twinkal C Pansuriya, Jan Oosting, Tibor Krenács, Antonie HM Taminiau, Suzan HM Verdegaal, Luca Sangiorgi, Raf Sciot, Pancras CW Hogendoorn, Karoly Szuhai and Judith VMG Bovée

    Citation: Orphanet Journal of Rare Diseases 2011 6:2

    Content type: Research

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  14. Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as co...

    Authors: Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck and Marie E Samson-Bouma

    Citation: Orphanet Journal of Rare Diseases 2011 6:1

    Content type: Research

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  15. Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the...

    Authors: Raymund AC Roos

    Citation: Orphanet Journal of Rare Diseases 2010 5:40

    Content type: Review

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  16. Toxic epidermal necrolysis (TEN) and Stevens Johnson Syndrome (SJS) are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. Both are rare, with TEN and SJS affecti...

    Authors: Thomas Harr and Lars E French

    Citation: Orphanet Journal of Rare Diseases 2010 5:39

    Content type: Review

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  17. The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corr...

    Authors: Dan Lipsker

    Citation: Orphanet Journal of Rare Diseases 2010 5:38

    Content type: Review

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  18. Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of canc...

    Authors: Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt and Isabelle Meyts

    Citation: Orphanet Journal of Rare Diseases 2010 5:37

    Content type: Case Report

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  19. The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficul...

    Authors: Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, Antonella Correra and Maria Vittoria Cubellis

    Citation: Orphanet Journal of Rare Diseases 2010 5:36

    Content type: Methodology

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  20. Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical C...

    Authors: Johann Böhm, Uluç Yiş, Ragıp Ortaç, Handan Çakmakçı, Semra Hız Kurul, Eray Dirik and Jocelyn Laporte

    Citation: Orphanet Journal of Rare Diseases 2010 5:35

    Content type: Case Report

    Published on:

  21. Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray ge...

    Authors: Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom and Anthony M Marinaki

    Citation: Orphanet Journal of Rare Diseases 2010 5:34

    Content type: Research

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  22. Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplet...

    Authors: Chiara Redaelli, Rosalind A Coleman, Laura Moro, Catherine Dacou-Voutetakis, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo and Daniela Tavian

    Citation: Orphanet Journal of Rare Diseases 2010 5:33

    Content type: Research

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    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2011 6:6

  23. In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Al...

    Authors: Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti and Valeria Dall'Asta

    Citation: Orphanet Journal of Rare Diseases 2010 5:32

    Content type: Research

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  24. A severe encephalitis that associates with auto-antibodies to the NR1 subunit of the NMDA receptor (NMDA-R) was recently reported. Patients' antibodies cause a decrease of the density of NMDA-R and synaptic me...

    Authors: Mario Manto, Josep Dalmau, Adrien Didelot, Véronique Rogemond and Jérôme Honnorat

    Citation: Orphanet Journal of Rare Diseases 2010 5:31

    Content type: Research

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  25. Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence...

    Authors: Dominique P Germain

    Citation: Orphanet Journal of Rare Diseases 2010 5:30

    Content type: Review

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  26. Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation....

    Authors: Cécile Julier and Marc Nicolino

    Citation: Orphanet Journal of Rare Diseases 2010 5:29

    Content type: Review

    Published on:

  27. Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P23

    Content type: Poster presentation

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    This article is part of a Supplement: Volume 5 Supplement 1