|
|
|
|
|
|
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O Schwab, Uta Tacke, Friedrich K Trefz, Eugen Mengel, Udo Wendel, Michael Leichsenring, Peter Burgard, Georg F Hoffmann Orphanet Journal of Rare Diseases 2011, 6:44 (20 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
Marlies J Valstar, Jan Marchal, Martha Grootenhuis, Vivian Colland, Frits A Wijburg Orphanet Journal of Rare Diseases 2011, 6:43 (20 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Pricing and reimbursement of orphan drugs: the need for more transparency
Steven Simoens Orphanet Journal of Rare Diseases 2011, 6:42 (17 June 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
Eeva-Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne, Taneli Raivio Orphanet Journal of Rare Diseases 2011, 6:41 (17 June 2011)
Abstract | Full text | PDF
| PubMed |
|
|
|
|
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo Orphanet Journal of Rare Diseases 2011, 6:40 (16 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Saqib Mahmood, Wasim Ahmad, Muhammad J Hassan Orphanet Journal of Rare Diseases 2011, 6:39 (13 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D'Addetta, Elga Belligni, Alessia Calcagnì, Maria C Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria G Patricelli, Manuela Priolo, Paolo Prontera et al.
Orphanet Journal of Rare Diseases 2011, 6:38 (9 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé, Ravi Savarirayan Orphanet Journal of Rare Diseases 2011, 6:37 (9 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients
Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, Alessandro Ferraris, Eva Germanò, Serena Micheletti, Mariasavina Severino, Laura Bernardini, Sara Loddo, Gaetano Tortorella, Francesca Ormitti, Roberto Gasparotti, the CBCD Study Group, Andrea Rossi, Enza Valente Orphanet Journal of Rare Diseases 2011, 6:36 (8 June 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Machado-Joseph Disease: from first descriptions to new perspectives
Conceição Bettencourt, Manuela Lima Orphanet Journal of Rare Diseases 2011, 6:35 (2 June 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
Deniz Güngör, Juna M de Vries, Wim CJ Hop, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg, Marloes LC Hagemans Orphanet Journal of Rare Diseases 2011, 6:34 (1 June 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics
Nathaniel Whaley, Shinsuke Fujioka, Zbigniew K Wszolek Orphanet Journal of Rare Diseases 2011, 6:33 (28 May 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients
Katharina Rall, Gianmaria Barresi, Michael Walter, Sven Poths, Karina Haebig, Karin Schaeferhoff, Birgitt Schoenfisch, Olaf Riess, Diethelm Wallwiener, Michael Bonin, Sara Brucker Orphanet Journal of Rare Diseases 2011, 6:32 (28 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Development of an ELISA for sensitive and specific detection of IgA autoantibodies against BP180 in pemphigoid diseases
Kinga Csorba, Sabine Schmidt, Florina Florea, Norito Ishii, Takashi Hashimoto, Michael Hertl, Sarolta Kárpáti, Leena Bruckner-Tuderman, Wataru Nishie, Cassian Sitaru Orphanet Journal of Rare Diseases 2011, 6:31 (28 May 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen
Ines Paule, Hind Sassi, Anoosha Habibi, Kim PD Pham, Dora Bachir, Frédéric Galactéros, Pascal Girard, Anne Hulin, Michel Tod Orphanet Journal of Rare Diseases 2011, 6:30 (28 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
Hala Mégarbané, André Mégarbané Orphanet Journal of Rare Diseases 2011, 6:29 (21 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Epithelial thymic tumours in paediatric age: a report from the TREP project
Elena Carretto, Alessandro Inserra, Andrea Ferrari, Massimo Conte, Andrea Di Cataldo, Roberta Migliorati, Giovanni Cecchetto, Gianni Bisogno Orphanet Journal of Rare Diseases 2011, 6:28 (21 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Glucose-6-phosphatase deficiency
Roseline Froissart, Monique Piraud, Alix Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Eberschweiler, Vincent Gajdos, Philippe Labrune Orphanet Journal of Rare Diseases 2011, 6:27 (20 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Congenital neutropenia: diagnosis, molecular bases and patient management
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine Chantelot Orphanet Journal of Rare Diseases 2011, 6:26 (19 May 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
Parental risk factors and anorectal malformations: systematic review and meta-analysis
Nadine Zwink, Ekkehart Jenetzky, Hermann Brenner Orphanet Journal of Rare Diseases 2011, 6:25 (17 May 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
X-linked disorders with cerebellar dysgenesis
Ginevra Zanni, Enrico S Bertini Orphanet Journal of Rare Diseases 2011, 6:24 (15 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia
Maureen A Lefton-Greif, Thomas O Crawford, Sharon McGrath-Morrow, Kathryn A Carson, Howard M Lederman Orphanet Journal of Rare Diseases 2011, 6:23 (15 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Congenitally corrected transposition
Gonzalo A Wallis, Diane Debich-Spicer, Robert H Anderson Orphanet Journal of Rare Diseases 2011, 6:22 (14 May 2011)
Abstract | Full text | PDF
| PubMed
|
|
|
|
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, Catherine Calais, Jacqueline Vigneron, Bettina Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, Thierry Mom, Didier Lacombe, Françoise Duriez, Valérie Drouin-Garraud et al.
Orphanet Journal of Rare Diseases 2011, 6:21 (11 May 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
|
|
|
|
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011
Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao, Xiaohong Duan Orphanet Journal of Rare Diseases 2011, 6:20 (10 May 2011)
Abstract | Full text | PDF
| PubMed
|
