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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz Orphanet Journal of Rare Diseases 2012, 7:8 (25 January 2012)
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Elisa A Colombo, J Fernando Bazan, Gloria Negri, Cristina Gervasini, Nursel H Elcioglu, Deniz Yucelten, Ilknur Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K Sullivan, Albert C Yan, Ludovica Volpi, Lidia Larizza Orphanet Journal of Rare Diseases 2012, 7:7 (23 January 2012)
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Clinical expression of Menkes disease in females with normal karyotype
Lisbeth Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn, Thomas G Jensen Orphanet Journal of Rare Diseases 2012, 7:6 (22 January 2012)
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ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure
Yingying Qin, Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu, Zi-Jiang Chen Orphanet Journal of Rare Diseases 2012, 7:5 (17 January 2012)
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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Valente, Eugen Boltshauser Orphanet Journal of Rare Diseases 2012, 7:4 (11 January 2012)
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Gastric lactobezoar - a rare disorder?
Peter Heinz-Erian, Ingmar Gassner, Andreas Klein-Franke, Veronika Jud, Rudolf Trawoeger, Christian Niederwanger, Thomas Mueller, Bernhard Meister, Sabine Scholl-Buergi Orphanet Journal of Rare Diseases 2012, 7:3 (4 January 2012)
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Chromosome 15q24 microdeletion syndrome
Pilar L Magoulas, Ayman W El-Hattab Orphanet Journal of Rare Diseases 2012, 7:2 (4 January 2012)
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Congenital Diaphragmatic Hernia
Juan A Tovar Orphanet Journal of Rare Diseases 2012, 7:1 (3 January 2012)
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Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra, Silverio Perrotta Orphanet Journal of Rare Diseases 2011, 6:89 (30 December 2011)
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Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
Freya KR Swinnen, Paul J Coucke, Anne M De Paepe, Sofie Symoens, Fransiska Malfait, Filomena V Gentile, Luca Sangiorgi, Patrizia D'Eufemia, Mauro Celli, Ton JTM Garretsen, Cor WRJ Cremers, Ingeborg JM Dhooge, Els MR De Leenheer Orphanet Journal of Rare Diseases 2011, 6:88 (29 December 2011)
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré Orphanet Journal of Rare Diseases 2011, 6:87 (26 December 2011)
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Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients
Naïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, Saik Urien, Georges Deschenes, Daniel Ricquier, Patrick Niaudet, Bernadette Chadefaux-Vekemans Orphanet Journal of Rare Diseases 2011, 6:86 (23 December 2011)
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5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
Kristy Damjanovich, Carmen Langa, Francisco J Blanco, Jamie McDonald, Luisa M Botella, Carmelo Bernabeu, Whitney Wooderchak-Donahue, David A Stevenson, Pinar Bayrak-Toydemir Orphanet Journal of Rare Diseases 2011, 6:85 (22 December 2011)
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Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers
Lisa Martell, Kelly Lau, Miranda Mei, Vicki Burnett, Celeste Decker, Erik D Foehr Orphanet Journal of Rare Diseases 2011, 6:84 (16 December 2011)
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Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study
Sophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, Catherine Garel, Maria Ribeiro, Judith Parker, Anne-Sophie Defachelles, Anne Lambilliotte, Mohamed Barkaoui, Martine Munzer, Martine Gardembas, Jean Sibilia, Patrick Lutz, Renato Fior, Michel Polak, Alain Robert, Olivier Aumaitre, Dominique Plantaz, Corinne Armari-Alla, Thierry Genereau, Perrine Berard, Ghislain Talom, Jean-Loup Pennaforte, Hubert Le Pointe, Marie-Anne Barthez, Gérard Couillault, Julien Haroche, Karima Mokhtari, Jean Donadieu, Khê Hoang-Xuan, the French LCH study group et al.
Orphanet Journal of Rare Diseases 2011, 6:83 (12 December 2011)
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Type 1 autoimmune pancreatitis
Yoh Zen, Dimitrios P Bogdanos, Shigeyuki Kawa Orphanet Journal of Rare Diseases 2011, 6:82 (7 December 2011)
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Laryngo-tracheo-oesophageal clefts
Nicolas Leboulanger, Eréa-Noël Garabédian Orphanet Journal of Rare Diseases 2011, 6:81 (7 December 2011)
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Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Robert J Pignolo, Eileen M Shore, Frederick S Kaplan Orphanet Journal of Rare Diseases 2011, 6:80 (1 December 2011)
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Benefits, challenges and obstacles of adaptive clinical trial designs
Shein-Chung Chow, Ralph Corey Orphanet Journal of Rare Diseases 2011, 6:79 (30 November 2011)
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Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
Tomoo Okada, Michio Miyashita, Junji Fukuhara, Masahiko Sugitani, Takahiro Ueno, Marie-Elisabeth Samson-Bouma, Lawrence P Aggerbeck Orphanet Journal of Rare Diseases 2011, 6:78 (21 November 2011)
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Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation
Ruth B Veenhuizen, Branda Kootstra, Wilma Vink, Janneke Posthumus, Pleuntje van Bekkum, Margriet Zijlstra, Jelleke Dokter Orphanet Journal of Rare Diseases 2011, 6:77 (18 November 2011)
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The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency
Aleksandra Szczawinska-Poplonyk, Zdzislawa Kycler, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Anna Breborowicz, Karolina Gerreth Orphanet Journal of Rare Diseases 2011, 6:76 (15 November 2011)
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A rare bladder cancer - small cell carcinoma: review and update
Nabil Ismaili Orphanet Journal of Rare Diseases 2011, 6:75 (13 November 2011)
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Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner Orphanet Journal of Rare Diseases 2011, 6:74 (13 November 2011)
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Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Mie Mogensen, Tina Skjørringe, Hiroko Kodama, Kenneth Silver, Nina Horn, Lisbeth B Møller Orphanet Journal of Rare Diseases 2011, 6:73 (10 November 2011)
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