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  1. For over 20 years, the National Health Service in England has run a system of national planning for highly specialised healthcare services. The aim is to ensure that very rare diseases are treated, and very co...

    Authors: Suzanne Coles, Kate Haire, Tom Kenny and Edmund G Jessop

    Citation: Orphanet Journal of Rare Diseases 2012 7:85

    Content type: Research

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  2. Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (auto...

    Authors: Frederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait and Els M R De Leenheer

    Citation: Orphanet Journal of Rare Diseases 2012 7:84

    Content type: Review

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  3. The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to b...

    Authors: Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst and Ronald JA Wanders

    Citation: Orphanet Journal of Rare Diseases 2012 7:83

    Content type: Review

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  4. Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to sk...

    Authors: Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, Jorge Díaz-Manera…

    Citation: Orphanet Journal of Rare Diseases 2012 7:82

    Content type: Research

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  5. The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is th...

    Authors: Anna Cereda and John C Carey

    Citation: Orphanet Journal of Rare Diseases 2012 7:81

    Content type: Review

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  6. Craniomaxillofacial fibrous dysplasia (FD) is a benign bone lesion characterized by facial disfigurement and functional impairment. The aim of this study was to characterize the epidemiological and clinical fe...

    Authors: Jie Cheng, Yanling Wang, Hongbo Yu, Dongmiao Wang, Jinhai Ye, Hongbin Jiang, Yunong Wu and Guofang Shen

    Citation: Orphanet Journal of Rare Diseases 2012 7:80

    Content type: Research

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  7. Diffuse parenchymal lung diseases (DPLD) represent a diverse group of disorders affecting the distal lung parenchyma, specifically the tissue and spaces surrounding the alveoli, which may be filled with inflam...

    Authors: Paolo Spagnolo, Fabrizio Luppi, Stefania Cerri and Luca Richeldi

    Citation: Orphanet Journal of Rare Diseases 2012 7:79

    Content type: Review

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  8. Primary ciliary dyskinesia (PCD) is a rare congenital respiratory disorder characterized by abnormal ciliary motility leading to chronic airway infections. Qualitative evaluation of ciliary beat pattern based ...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:78

    Content type: Research

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  9. Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.

    Authors: Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi-Semerano, Marc G Berger, Christian Rose, Fabrice Camou, Christine de Roux-Serratrice, Bernard Grosbois, Pierre Kaminsky, Alain Robert, Catherine Caillaud, Roselyne Froissart, Thierry Levade, Agathe Masseau…

    Citation: Orphanet Journal of Rare Diseases 2012 7:77

    Content type: Research

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  10. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:76

    Content type: Research

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  11. To examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1).

    Authors: Rosa Nguyen, Eva Dombi, Brigitte C Widemann, Jeffrey Solomon, Carsten Fuensterer, Lan Kluwe, Jan M Friedman and Victor-Felix Mautner

    Citation: Orphanet Journal of Rare Diseases 2012 7:75

    Content type: Research

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  12. Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come...

    Authors: Wills Hughes-Wilson, Ana Palma, Ad Schuurman and Steven Simoens

    Citation: Orphanet Journal of Rare Diseases 2012 7:74

    Content type: Research

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  13. Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also ide...

    Authors: Juna M de Vries, Nadine AME van der Beek, Wim CJ Hop, Francois PJ Karstens, John H Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Catharina G Faber, Jan JGM Verschuuren, Michelle E Kruijshaar, Arnold JJ Reuser, Pieter A van Doorn and Ans T van der Ploeg

    Citation: Orphanet Journal of Rare Diseases 2012 7:73

    Content type: Research

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  14. Severe cutaneous adverse reactions to drugs (SCARs) include acute generalized exanthematous pustulosis (AGEP), drug reaction with eosinophilia and systemic symptoms (DRESS) and epidermal necrolysis (Stevens-Jo...

    Authors: Sophie Bouvresse, Laurence Valeyrie-Allanore, Nicolas Ortonne, Marie Pauline Konstantinou, Sylvia H Kardaun, Martine Bagot, Pierre Wolkenstein and Jean-Claude Roujeau

    Citation: Orphanet Journal of Rare Diseases 2012 7:72

    Content type: Research

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  15. WHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections and ...

    Authors: Sarah Beaussant Cohen, Odile Fenneteau, Emmanuel Plouvier, Pierre-Simon Rohrlich, Gerard Daltroff, Isabelle Plantier, Alain Dupuy, Delphine Kerob, Blandine Beaupain, Pierre Bordigoni, Fanny Fouyssac, Anne-Lise Delezoide, Gilles Devouassoux, Jean François Nicolas, Philippe Bensaid, Yves Bertrand…

    Citation: Orphanet Journal of Rare Diseases 2012 7:71

    Content type: Research

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  16. Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-depe...

    Authors: Marie Morimoto, Zhongxin Yu, Peter Stenzel, J Marietta Clewing, Behzad Najafian, Christy Mayfield, Glenda Hendson, Justin G Weinkauf, Andrew K Gormley, David M Parham, Umakumaran Ponniah, Jean-Luc André, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanović, Arend Bokenkamp…

    Citation: Orphanet Journal of Rare Diseases 2012 7:70

    Content type: Research

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  17. Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding ...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:69

    Content type: Research

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  18. Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be a...

    Authors: Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman and Kym M Boycott

    Citation: Orphanet Journal of Rare Diseases 2012 7:67

    Content type: Research

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  19. We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 – fu...

    Authors: Bernadette Kalman, Ronald Lautenschlaeger, Florian Kohlmayer, Boriana Büchner, Thomas Kmiec, Thomas Klopstock and Klaus A Kuhn

    Citation: Orphanet Journal of Rare Diseases 2012 7:66

    Content type: Letter to the Editor

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  20. The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malforma...

    Authors: Nadine Zwink, Ekkehart Jenetzky, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Sandra Weih, Stuart Hosie, Peter Reifferscheid, Helen Ameis, Christina Kujath, Anke Rißmann, Florian Obermayr, Nicole Schwarzer, Enrika Bartels…

    Citation: Orphanet Journal of Rare Diseases 2012 7:65

    Content type: Research

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  21. The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV1 and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care....

    Authors: Pierre-Yves Boëlle, Laura Viviani, Pierre-Francois Busson, Hanne V Olesen, Sophie Ravilly, Martin Stern, Baroukh M Assael, Celeste Barreto, Pavel Drevinek, Muriel Thomas, Uros Krivec, Meir Mei-Zahav, Jean-François Vibert, Annick Clement, Anil Mehta and Harriet Corvol

    Citation: Orphanet Journal of Rare Diseases 2012 7:64

    Content type: Research

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  22. Resources for rare diseases are lacking. Patients do not have the information and support that they need, and researchers struggle to make progress due to a shortage of skills and collaborations within the fie...

    Authors: Vicki L Colledge and John Solly

    Citation: Orphanet Journal of Rare Diseases 2012 7:63

    Content type: Letter to the Editor

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  23. To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral nerve-sheath ...

    Authors: Emilie Sbidian, Smaïl Hadj-Rabia, Vincent M Riccardi, Laurence L Valeyrie-Allanore, Sébastien Barbarot, Olivier Chosidow, Salah Ferkal, Diana Rodriguez, Pierre Wolkenstein and Sylvie Bastuji-Garin

    Citation: Orphanet Journal of Rare Diseases 2012 7:62

    Content type: Research

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  24. Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a no...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:61

    Content type: Research

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  25. Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been ...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:60

    Content type: Research

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  26. Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese fa...

    Authors: Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann and Hanno Jörn Bolz

    Citation: Orphanet Journal of Rare Diseases 2012 7:59

    Content type: Research

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  27. Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA survei...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:58

    Content type: Research

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  28. Uveitis is an autoimmune disease of the eye that refers to any of a number of intraocular inflammatory conditions. Because it is a rare disease, uveitis is often overlooked, and the possible associations betwe...

    Authors: Talin Barisani-Asenbauer, Saskia M Maca, Lamiss Mejdoubi, Wolfgang Emminger, Klaus Machold and Herbert Auer

    Citation: Orphanet Journal of Rare Diseases 2012 7:57

    Content type: Research

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  29. Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported...

    Authors: Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi and Albert de la Chapelle

    Citation: Orphanet Journal of Rare Diseases 2012 7:56

    Content type: Research

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  30. Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology a...

    Authors: Yazhou Cui, Heng Zhao, Zhenxing Liu, Chao Liu, Jing Luan, Xiaoyan Zhou and Jinxiang Han

    Citation: Orphanet Journal of Rare Diseases 2012 7:55

    Content type: Review

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  31. AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) (most commonly of lambda isotype) usually secreted by a small plasma cell clone. Most pa...

    Authors: Estelle Desport, Frank Bridoux, Christophe Sirac, Sébastien Delbes, Sébastien Bender, Béatrice Fernandez, Nathalie Quellard, Corinne Lacombe, Jean-Michel Goujon, David Lavergne, Julie Abraham, Guy Touchard, Jean-Paul Fermand and Arnaud Jaccard

    Citation: Orphanet Journal of Rare Diseases 2012 7:54

    Content type: Review

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  32. Web-based interventions are effective on the patient empowerment. Guiametabolica.org constitutes an interface for people involved in inherited metabolic diseases, trying to facilitate access to information and co...

    Authors: Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, Jordi Fàbrega, Jorge Juan Fernández, Mei García, Natàlia Egea, Modesta Pousada, Beni Gómez-Zuñiga, Jaume Pérez-Payarols, Rafael Artuch, Francesc Palau and Mercedes Serrano

    Citation: Orphanet Journal of Rare Diseases 2012 7:53

    Content type: Letter to the Editor

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  33. Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...

    Authors: Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi and Sonia Abdelhak

    Citation: Orphanet Journal of Rare Diseases 2012 7:52

    Content type: Research

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  34. X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the tran...

    Authors: Marc Engelen, Stephan Kemp, Marianne de Visser, Björn M van Geel, Ronald JA Wanders, Patrick Aubourg and Bwee Tien Poll-The

    Citation: Orphanet Journal of Rare Diseases 2012 7:51

    Content type: Review

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  35. Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress ...

    Authors: Caron Molster, Leanne Youngs, Emma Hammond and Hugh Dawkins

    Citation: Orphanet Journal of Rare Diseases 2012 7:50

    Content type: Research

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  36. Various antigen-specific immunoassays are available for the serological diagnosis of autoimmune bullous diseases. However, a spectrum of different tissue-based and monovalent antigen-specific assays is require...

    Authors: Nina van Beek, Kristin Rentzsch, Christian Probst, Lars Komorowski, Michael Kasperkiewicz, Kai Fechner, Inga M Bloecker, Detlef Zillikens, Winfried Stöcker and Enno Schmidt

    Citation: Orphanet Journal of Rare Diseases 2012 7:49

    Content type: Research

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  37. Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many cri...

    Authors: Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Bernhard Schmitt, Ianina Scheer, Ruth O’Gorman, Farrukh A Chaudhry and Tawfeg Ben-Omran

    Citation: Orphanet Journal of Rare Diseases 2012 7:48

    Content type: Research

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  38. Intellectual disability (ID) is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and d...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:47

    Content type: Research

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  39. Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. Th...

    Authors: Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier and Dan Milea

    Citation: Orphanet Journal of Rare Diseases 2012 7:46

    Content type: Review

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  40. Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in t...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:45

    Content type: Research

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  41. Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 ...

    Authors: Thomas J Jaworek, Tasleem Kausar, Shannon M Bell, Nabeela Tariq, Muhammad Imran Maqsood, Asma Sohail, Muhmmmad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S Shaikh and Zubair M Ahmed

    Citation: Orphanet Journal of Rare Diseases 2012 7:44

    Content type: Research

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  42. SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behav...

    Authors: Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini and Giovanni Cioni

    Citation: Orphanet Journal of Rare Diseases 2012 7:43

    Content type: Research

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  43. Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 ...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:42

    Content type: Research

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  44. Cushing’s disease, or pituitary ACTH dependent Cushing’s syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity,...

    Authors: Frederic Castinetti, Isabelle Morange, Bernard Conte-Devolx and Thierry Brue

    Citation: Orphanet Journal of Rare Diseases 2012 7:41

    Content type: Review

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  45. Interstitial lung diseases (ILDs) in children represent a heterogeneous group of rare respiratory disorders that affect the lung parenchyma. After the launch of the French Reference Centre for Rare Lung Diseas...

    Authors: Nadia Nathan, Rola Abou Taam, Ralph Epaud, Christophe Delacourt, Antoine Deschildre, Philippe Reix, Raphaël Chiron, Ulrika de Pontbriand, Jacques Brouard, Michaël Fayon, Jean-Christophe Dubus, Lisa Giovannini-Chami, François Bremont, Katia Bessaci, Cyril Schweitzer, Marie-Laure Dalphin…

    Citation: Orphanet Journal of Rare Diseases 2012 7:40

    Content type: Research

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  46. With the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will continue for at least the next several years. At pr...

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

    Citation: Orphanet Journal of Rare Diseases 2012 7:39

    Content type: Review

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  47. Krabbe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the GALC gene. The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are...

    Authors: Alice K Tanner, Ephrem L H Chin, Patricia K Duffner and Madhuri Hegde

    Citation: Orphanet Journal of Rare Diseases 2012 7:38

    Content type: Research

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  48. The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Networ...

    Authors: Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele D’Amico, Maria Rosaria D’Apice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori…

    Citation: Orphanet Journal of Rare Diseases 2012 7:37

    Content type: Letter to the Editor

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  49. Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI hav...

    Authors: Taro Muto, Keiko Miyoshi, Taigo Horiguchi, Hiroko Hagita and Takafumi Noma

    Citation: Orphanet Journal of Rare Diseases 2012 7:34

    Content type: Research

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