Orphanet Journal of Rare Diseases

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		Research The internet user profile of Italian families of patients with rare diseases: a web survey Alberto E Tozzi, Rita Mingarelli, Eleonora Agricola, Michaela Gonfiantini, Elisabetta Pandolfi, Emanuela Carloni, Francesco Gesualdo, Bruno Dallapiccola Orphanet Journal of Rare Diseases 2013, 8:76 (16 May 2013) Abstract \| Provisional PDF
		Research Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Eugenio Mercuri, Luigi Tarani, Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente Orphanet Journal of Rare Diseases 2013, 8:75 (16 May 2013) Abstract \| Provisional PDF
		Letter to the Editor A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease Neil V Morgan, Jane L Hartley, Kenneth D Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen, Deirdre A Kelly Orphanet Journal of Rare Diseases 2013, 8:74 (16 May 2013) Abstract \| Provisional PDF
		Correction Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier, Mercé Pineda Orphanet Journal of Rare Diseases 2013, 8:73 (14 May 2013) Abstract \| Full text \| PDF \| PubMed
		Review Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net Michael Girschikofsky, Maurizio Arico, Diego Castillo, Anthony Chu, Claus Doberauer, Joachim Fichter, Julien Haroche, Gregory A Kaltsas, Polyzois Makras, Angelo V Marzano, Mathilde de Menthon, Oliver Micke, Emanuela Passoni, Heinrich M Seegenschmiedt, Abdellatif Tazi, Kenneth L McClain Orphanet Journal of Rare Diseases 2013, 8:72 (14 May 2013) Abstract \| Provisional PDF \| PubMed
		Research Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, Ming-Ren Chen, Dau-Ming Niu, Shuan-Pei Lin Orphanet Journal of Rare Diseases 2013, 8:71 (11 May 2013) Abstract \| Provisional PDF \| PubMed
		Research Natural history of Barth syndrome: a national cohort study of 22 patients Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlene Rio, Damien Bonnet, Jean Donadieu Orphanet Journal of Rare Diseases 2013, 8:70 (8 May 2013) Abstract \| Full text \| PDF \| PubMed
		Letter to the Editor Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study Verena Wally, Sophie Kitzmueller, Florian Lagler, Angelika Moder, Wolfgang Hitzl, Martin Wolkersdorfer, Peter Hofbauer, Thomas K Felder, Michael Dornauer, Anja Diem, Nora Eiler, Johann W Bauer Orphanet Journal of Rare Diseases 2013, 8:69 (7 May 2013) Abstract \| Full text \| PDF \| PubMed
		Research Brittle cornea syndrome: recognition, molecular diagnosis and management Emma MM Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes DC Manson, Graeme CM Black Orphanet Journal of Rare Diseases 2013, 8:68 (4 May 2013) Abstract \| Provisional PDF \| PubMed
		Review Lupus enteritis: from clinical findings to therapeutic management Peter Janssens, Laurent Arnaud, Lionel Galicier, Alexis Mathian, Miguel Hie, Damien Sene, Julien Haroche, Catherine Veyssier-Belot, Isabelle Huynh-Charlier, Philippe A Grenier, Jean-Charles Piette, Zahir Amoura Orphanet Journal of Rare Diseases 2013, 8:67 (3 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani Orphanet Journal of Rare Diseases 2013, 8:66 (1 May 2013) Abstract \| Full text \| PDF \| PubMed
		Research Clinicopathological study of glomerular diseases associated with sarcoidosis: a multicenter study Thomas Stehlé, Dominique Joly, Philippe Vanhille, Jean-Jacques Boffa, Philippe Rémy, Laurent Mesnard, Maxime Hoffmann, Philippe Grimbert, Gabriel Choukroun, François Vrtovsnik, Jérôme Verine, Dominique Desvaux, Francine Walker, Philippe Lang, Matthieu Mahevas, Dil Sahali, Vincent Audard Orphanet Journal of Rare Diseases 2013, 8:65 (30 April 2013) Abstract \| Full text \| PDF \| PubMed
		Research Phenotypic characteristics of early Wolfram syndrome Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, James Hoekel, Roanne Karzon, Jon Wasson, Amy Viehover, Neil H White, Joshua S Shimony, Linda Manwaring, Paul Austin, Timothy E Hullar, Tamara Hershey, the Washington University Wolfram Study Group Orphanet Journal of Rare Diseases 2013, 8:64 (27 April 2013) Abstract \| Full text \| PDF \| ePUB
		Research The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrée, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne M Hendriks, Delphine Héron, Alexander Hoischen, Engela Magdalena Honey, Lies H Hoefsloot, Jennifer Ibrahim et al. Orphanet Journal of Rare Diseases 2013, 8:63 (27 April 2013) Abstract \| Provisional PDF \| PubMed
		Research Intellectual disability associated with a homozygous missense mutation in THOC6 Chandree L Beaulieu, Lijia Huang, A Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D McLeod, Jeremy Schwartzentruber, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh, Kym M Boycott Orphanet Journal of Rare Diseases 2013, 8:62 (26 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúl de Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui, Ignacio García-Doval Orphanet Journal of Rare Diseases 2013, 8:61 (22 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy) Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin‘ichi Takeda, Mitsuru Kawai Orphanet Journal of Rare Diseases 2013, 8:60 (19 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl Orphanet Journal of Rare Diseases 2013, 8:59 (15 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi Orphanet Journal of Rare Diseases 2013, 8:58 (12 April 2013) Abstract \| Full text \| PDF \| PubMed
		Research Genetic basis of hyperlysinemia Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders, Marinus Duran Orphanet Journal of Rare Diseases 2013, 8:57 (9 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Reconstructive management of the rare bilateral oral submucos fibrosis using nasolabial flap in comparison with free radial forearm flap - a randomised prospective trial Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich, Majeed Rana Orphanet Journal of Rare Diseases 2013, 8:56 (8 April 2013) Abstract \| Provisional PDF \| PubMed
		Research miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors Naoe Harafuji, Peter Schneiderat, Maggie C Walter, Yi-Wen Chen Orphanet Journal of Rare Diseases 2013, 8:55 (5 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi, Dirce Maria Carraro Orphanet Journal of Rare Diseases 2013, 8:54 (5 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis Francesco Bonella, Shinichiro Ohshimo, Cai Miaotian, Matthias Griese, Josune Guzman, Ulrich Costabel Orphanet Journal of Rare Diseases 2013, 8:53 (4 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Effective treatment of malignant atrophic papulosis (Köhlmeier-Degos disease) with treprostinil – early experience Lee S Shapiro, Aixa E Toledo-Garcia, Jessica F Farrell Orphanet Journal of Rare Diseases 2013, 8:52 (4 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed

	All
		Research The internet user profile of Italian families of patients with rare diseases: a web survey Alberto E Tozzi, Rita Mingarelli, Eleonora Agricola, Michaela Gonfiantini, Elisabetta Pandolfi, Emanuela Carloni, Francesco Gesualdo, Bruno Dallapiccola Orphanet Journal of Rare Diseases 2013, 8:76 (16 May 2013) Abstract \| Provisional PDF
		Research Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Eugenio Mercuri, Luigi Tarani, Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente Orphanet Journal of Rare Diseases 2013, 8:75 (16 May 2013) Abstract \| Provisional PDF
		Letter to the Editor A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease Neil V Morgan, Jane L Hartley, Kenneth D Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen, Deirdre A Kelly Orphanet Journal of Rare Diseases 2013, 8:74 (16 May 2013) Abstract \| Provisional PDF
		Correction Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier, Mercé Pineda Orphanet Journal of Rare Diseases 2013, 8:73 (14 May 2013) Abstract \| Full text \| PDF \| PubMed
		Review Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net Michael Girschikofsky, Maurizio Arico, Diego Castillo, Anthony Chu, Claus Doberauer, Joachim Fichter, Julien Haroche, Gregory A Kaltsas, Polyzois Makras, Angelo V Marzano, Mathilde de Menthon, Oliver Micke, Emanuela Passoni, Heinrich M Seegenschmiedt, Abdellatif Tazi, Kenneth L McClain Orphanet Journal of Rare Diseases 2013, 8:72 (14 May 2013) Abstract \| Provisional PDF \| PubMed
		Research Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, Ming-Ren Chen, Dau-Ming Niu, Shuan-Pei Lin Orphanet Journal of Rare Diseases 2013, 8:71 (11 May 2013) Abstract \| Provisional PDF \| PubMed
		Research Natural history of Barth syndrome: a national cohort study of 22 patients Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlene Rio, Damien Bonnet, Jean Donadieu Orphanet Journal of Rare Diseases 2013, 8:70 (8 May 2013) Abstract \| Full text \| PDF \| PubMed
		Letter to the Editor Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study Verena Wally, Sophie Kitzmueller, Florian Lagler, Angelika Moder, Wolfgang Hitzl, Martin Wolkersdorfer, Peter Hofbauer, Thomas K Felder, Michael Dornauer, Anja Diem, Nora Eiler, Johann W Bauer Orphanet Journal of Rare Diseases 2013, 8:69 (7 May 2013) Abstract \| Full text \| PDF \| PubMed
		Research Brittle cornea syndrome: recognition, molecular diagnosis and management Emma MM Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes DC Manson, Graeme CM Black Orphanet Journal of Rare Diseases 2013, 8:68 (4 May 2013) Abstract \| Provisional PDF \| PubMed
		Review Lupus enteritis: from clinical findings to therapeutic management Peter Janssens, Laurent Arnaud, Lionel Galicier, Alexis Mathian, Miguel Hie, Damien Sene, Julien Haroche, Catherine Veyssier-Belot, Isabelle Huynh-Charlier, Philippe A Grenier, Jean-Charles Piette, Zahir Amoura Orphanet Journal of Rare Diseases 2013, 8:67 (3 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani Orphanet Journal of Rare Diseases 2013, 8:66 (1 May 2013) Abstract \| Full text \| PDF \| PubMed
		Research Clinicopathological study of glomerular diseases associated with sarcoidosis: a multicenter study Thomas Stehlé, Dominique Joly, Philippe Vanhille, Jean-Jacques Boffa, Philippe Rémy, Laurent Mesnard, Maxime Hoffmann, Philippe Grimbert, Gabriel Choukroun, François Vrtovsnik, Jérôme Verine, Dominique Desvaux, Francine Walker, Philippe Lang, Matthieu Mahevas, Dil Sahali, Vincent Audard Orphanet Journal of Rare Diseases 2013, 8:65 (30 April 2013) Abstract \| Full text \| PDF \| PubMed
		Research Phenotypic characteristics of early Wolfram syndrome Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, James Hoekel, Roanne Karzon, Jon Wasson, Amy Viehover, Neil H White, Joshua S Shimony, Linda Manwaring, Paul Austin, Timothy E Hullar, Tamara Hershey, the Washington University Wolfram Study Group Orphanet Journal of Rare Diseases 2013, 8:64 (27 April 2013) Abstract \| Full text \| PDF \| ePUB
		Research The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrée, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne M Hendriks, Delphine Héron, Alexander Hoischen, Engela Magdalena Honey, Lies H Hoefsloot, Jennifer Ibrahim et al. Orphanet Journal of Rare Diseases 2013, 8:63 (27 April 2013) Abstract \| Provisional PDF \| PubMed
		Research Intellectual disability associated with a homozygous missense mutation in THOC6 Chandree L Beaulieu, Lijia Huang, A Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D McLeod, Jeremy Schwartzentruber, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh, Kym M Boycott Orphanet Journal of Rare Diseases 2013, 8:62 (26 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúl de Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui, Ignacio García-Doval Orphanet Journal of Rare Diseases 2013, 8:61 (22 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy) Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin‘ichi Takeda, Mitsuru Kawai Orphanet Journal of Rare Diseases 2013, 8:60 (19 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl Orphanet Journal of Rare Diseases 2013, 8:59 (15 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi Orphanet Journal of Rare Diseases 2013, 8:58 (12 April 2013) Abstract \| Full text \| PDF \| PubMed
		Research Genetic basis of hyperlysinemia Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders, Marinus Duran Orphanet Journal of Rare Diseases 2013, 8:57 (9 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Reconstructive management of the rare bilateral oral submucos fibrosis using nasolabial flap in comparison with free radial forearm flap - a randomised prospective trial Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich, Majeed Rana Orphanet Journal of Rare Diseases 2013, 8:56 (8 April 2013) Abstract \| Provisional PDF \| PubMed
		Research miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors Naoe Harafuji, Peter Schneiderat, Maggie C Walter, Yi-Wen Chen Orphanet Journal of Rare Diseases 2013, 8:55 (5 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi, Dirce Maria Carraro Orphanet Journal of Rare Diseases 2013, 8:54 (5 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis Francesco Bonella, Shinichiro Ohshimo, Cai Miaotian, Matthias Griese, Josune Guzman, Ulrich Costabel Orphanet Journal of Rare Diseases 2013, 8:53 (4 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research Effective treatment of malignant atrophic papulosis (Köhlmeier-Degos disease) with treprostinil – early experience Lee S Shapiro, Aixa E Toledo-Garcia, Jessica F Farrell Orphanet Journal of Rare Diseases 2013, 8:52 (4 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed