HuGE Literature Finder
Records 1-30
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Replication study of four keloid-associated polymorphisms in patients of European descent - a single centre study.
Intractable & rare diseases research 2020 Feb 9 (1): 40-42. Dmytrzak Andrzej, Boron Agnieszka, Loniewska Beata, Clark Jeremy S C, Kaczmarczyk Mariusz, Ciechanowicz Andrz |
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Immunological features of patients affected by Barraquer-Simons syndrome.
Orphanet journal of rare diseases 2020 Jan 15 (1): 9. Corvillo Fernando, Ceccarini Giovanni, Nozal Pilar, Magno Silvia, Pelosini Caterina, Garrido Sofía, López-Lera Alberto, Moraru Manuela, Vilches Carlos, Fornaciari Silvia, Gabbriellini Sabrina, Santini Ferruccio, Araújo-Vilar David, López-Trascasa Margari |
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Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
European journal of human genetics : EJHG 2020 Jan . Spitali Pietro, Zaharieva Irina, Bohringer Stefan, Hiller Monika, Chaouch Amina, Roos Andreas, Scotton Chiara, Claustres Mireille, Bello Luca, McDonald Craig M, Hoffman Eric P, , Koeks Zaida, Eka Suchiman H, Cirak Sebahattin, Scoto Mariacristina, Reza Mojgan, 't Hoen Peter A C, Niks Erik H, Tuffery-Giraud Sylvie, Lochmüller Hanns, Ferlini Alessandra, Muntoni Francesco, Aartsma-Rus Annemie |
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Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Orphanet journal of rare diseases 2019 Nov 14 (1): 250. Xie Zhiying, Xie Zhihao, Yu Meng, Zheng Yiming, Sun Chengyue, Liu Yilin, Ling Chen, Zhu Ying, Zhang Wei, Xiao Jiangxi, Wang Zhaoxia, Yuan Y |
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Nature communications 2019 Oct 10 (1): 4897. Oetjens M T, Kelly M A, Sturm A C, Martin C L, Ledbetter D |
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2019 Aug . De la Casa-Fages Beatriz, Fernández-Eulate Gorka, Gamez Josep, Barahona-Hernando Raúl, Morís Germán, García-Barcina María, Infante Jon, Zulaica Miren, Fernández-Pelayo Uxoa, Muñoz-Oreja Mikel, Urtasun Miguel, Olaskoaga Ander, Zelaya Victoria, Jericó Ivonne, Saez-Villaverde Raquel, Catalina Irene, Sola Emma, Martínez-Sáez Elena, Pujol Aurora, Ruiz Montserrat, Schlüter Agatha, Spinazzola Antonella, Muñoz-Blanco Jose Luis, Grandas Francisco, Holt Ian, Álvarez Victoria, López de Munaín Adol |
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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Orphanet journal of rare diseases 2019 Aug 14 (1): 203. Silvera-Ruiz Silene M, Arranz José A, Häberle Johannes, Angaroni Celia J, Bezard Miriam, Guelbert Norberto, Becerra Adriana, Peralta Fernanda, de Kremer Raquel Dodelson, Laróvere Laura |
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Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Orphanet journal of rare diseases 2019 Jun 14 (1): 144. Zhang Shujie, Chen Shaoke, Qin Haisong, Yuan Haiming, Pi Yalei, Yang Yu, Huang Hui, Li Guimei, Sun Yan, Wang Zhihua, Ma Huamei, Fu Xiaoling, Zhou Ting, Wang Jian, Zhang Huifeng, Shen Yipi |
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GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.
BMC bioinformatics 2019 May 20 (1): 254. Mossotto E, Ashton J J, O'Gorman L, Pengelly R J, Beattie R M, MacArthur B D, Ennis |
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Annals of neurology 2019 Mar 85 (3): 316-330. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Svaren John, Blanton Susan H, Moran John J, Lopez-Anido Camila, Morrow Jasper M, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
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A common SNP in the uracil-DNA glycosylase gene UNG decreases ovarian cancer risk in BRCA2 mutation carriers.
Molecular oncology 2019 Feb . Baquero Juan Miguel, Benítez-Buelga Carlos, Fernández Victoria, Urioste Miguel, García-Giménez Jose Luis, Perona Rosario, , Benítez Javier, Osorio A |
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Impact of somatic molecular profiling on clinical trial outcomes in rare epithelial gynecologic cancer patients.
Gynecologic oncology 2019 Feb . Rodriguez-Freixinos V, Lheureux S, Mandilaras V, Clarke B, Dhani N C, Mackay H, Butler M O, Wang L, Siu L L, Kamel-Reid S, Stockley T, Bedard P L, Oza A |
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Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation.
Intractable & rare diseases research 2019 Feb 8 (1): 52-55. Asanad Samuel, Meer Elana, Tian Jack J, Fantini Michele, Nassisi Marco, Sadun Alfredo |
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RECQL5: another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Human mutation 2019 Feb . Tavera-Tapia Alejandra, de la Hoya Miguel, Calvete Oriol, Martin-Gimeno Paloma, Fernández Victoria, Macías José Antonio, Alonso Beatriz, Pombo Luz, de Diego Carles, Alonso Rosario, Pita Guillermo, Barroso Alicia, Urioste Miguel, Caldés Trinidad, Newman Joseph A, Benítez Javier, Osorio A |
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Nature 2018 Sep . Niemi Mari E K, Martin Hilary C, Rice Daniel L, Gallone Giuseppe, Gordon Scott, Kelemen Martin, McAloney Kerrie, McRae Jeremy, Radford Elizabeth J, Yu Sui, Gecz Jozef, Martin Nicholas G, Wright Caroline F, Fitzpatrick David R, Firth Helen V, Hurles Matthew E, Barrett Jeffrey |
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MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.
Intractable & rare diseases research 2017 Nov 6 (4): 295-298. Asim Ambreen, Agarwal Sarita, Panigrahi Inusha, Saiyed Nazia, Bakshi Son |
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GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Parkinsonism & related disorders 2017 Sep . Dobri?i? Valerija, Tomi? Aleksandra, Brankovi? Vesna, Kresojevi? Nikola, Jankovi? Milena, Westenberger Ana, Raši? Vedrana Mili?, Klein Christine, Novakovi? Ivana, Svetel Marina, Kosti? Vladimir |
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What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
Orphanet journal of rare diseases 2017 Aug 12 (1): 142. De Wachter E, Thomas M, Wanyama S S, Seneca S, Malfroot |
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Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency.
Orphanet journal of rare diseases 2017 01 12 (1): 5. Zotter Zsuzsanna, Nagy Zsolt, Patócs Attila, Csuka Dorottya, Veszeli Nóra, Kohalmi Kinga Viktória, Farkas Henriet |
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Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.
Orphanet journal of rare diseases 2016 Dec 11 (1): 165. Pacheco Yves, Calender Alain, Israël-Biet Dominique, Roy Pascal, Lebecque Serge, Cottin Vincent, Bouvry Diane, Nunes Hilario, Sève Pascal, Pérard Laurent, Devouassoux Gilles, Freymond Nathalie, Khouatra Chahira, Wallaert Benoît, Lamy Raphaelle, Elsensohn Mad-Hélénie, Bardel Claire, Valeyre Dominique, |
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Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
Nature reviews. Genetics 2016 Sep 17 (10): 584. Bahcall Orli |
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Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Pharmacogenomics 2016 Jun . Ne?oldová Magdaléna, Stránecký Viktor, Hoda?ová Kate?ina, Hartmannová Hana, Piherová Lenka, P?istoupilová Anna, Mrázová Lenka, Vrablík Michal, Adámková V?ra, Hubá?ek Jaroslav A, Jirsa Milan, Kmoch Stanisl |
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Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer: Further Options for an Orphan Cancer.
The Journal of molecular diagnostics : JMD 2016 Mar . Roa Ivan, Garcia Hernan, Game Anakaren, de Toro Gonzalo, de Aretxabala Xabier, Javle Mili |
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Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.
Pediatrics international : official journal of the Japan Pediatric Society 2016 Feb . Yamazaki Susumu, Ohtsuka Yoshikazu, Yokokura Tomoaki, Yokota Rena, Honjo Asuka, Inage Eisuke, Baba Yosuke, Mori Mari, Suzuki Ryuyo, Iwata Tsutomu, Shimizu Toshia |
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Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
Intractable & rare diseases research 2016 Feb 5 (1): 25-30. Khan Imran Ali, Vattam Kiran Kumar, Jahan Parveen, Hasan Qurratulain, Rao Prag |
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[Desaturases of fatty acids (FADS) and their physiological and clinical implication].
Cas Lek Cesk 2016 155 (2): 15-21. Žák A, Slabý A, Tvrzická E, Jáchymová M, Macášek J, Vecka M, Zeman M, Stanková |
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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Orphanet journal of rare diseases 2016 11 (1): 121. Koens L H, Kuiper A, Coenen M A, Elting J W J, de Vries J J, Engelen M, Koelman J H T M, van Spronsen F J, Spikman J M, de Koning T J, Tijssen M A |
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Familial Mediterranean fever is no longer a rare disease in Japan.
Arthritis research & therapy 2016 18 175. Migita Kiyoshi, Izumi Yasumori, Jiuchi Yuka, Iwanaga Nozomi, Kawahara Chieko, Agematsu Kazunaga, Yachie Akihiro, Masumoto Junya, Fujikawa Keita, Yamasaki Satoshi, Nakamura Tadashi, Ubara Yoshifumi, Koga Tomohiro, Nakashima Yoshikazu, Shimizu Toshimasa, Umeda Masataka, Nonaka Fumiaki, Yasunami Michio, Eguchi Katsumi, Yoshiura Koh-Ichiro, Kawakami Atsus |
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Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
PloS one 2016 11 (5): e0155552. Fujikura Koh |
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Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Orphanet journal of rare diseases 2016 11 (1): 118. Laššuthová Petra, Šafka Brožková Dana, Kr?tová Marcela, Neupauerová Jana, Haberlová Jana, Mazanec Radim, D?ímal Pavel, Seeman Pav |
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MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.
Orphanet journal of rare diseases 2016 11 48. Bonella Francesco, Long Xiaoping, Ohshimo Shinichiro, Horimasu Yasushi, Griese Matthias, Guzman Josune, Kohno Nobuoki, Costabel Ulri |
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Orphanet journal of rare diseases 2016 11 (1): 91. Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita G L, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli F M, Bruno C, |
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Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.
Orphanet journal of rare diseases 2016 11 (1): 13. Peng Guoping, Liu Ping, He Fangping, Luo Beny |
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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
Orphanet journal of rare diseases 2016 11 (1): 39. Mangatt Meghana, Wong Kingsley, Anderson Barbara, Epstein Amy, Hodgetts Stuart, Leonard Helen, Downs Jen |
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Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity.
Progress in molecular biology and translational science 2016 140 75-95. Han J |
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Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Orphanet journal of rare diseases 2016 11 (1): 75. Greulich Timm, Nell Christoph, Herr Christian, Vogelmeier Claus, Kotke Viktor, Wiedmann Stefan, Wencker Marion, Bals Robert, Koczulla Andreas Rembe |
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HEALER: Homomorphic computation of ExAct Logistic rEgRession for secure rare disease variants analysis in GWAS.
Bioinformatics (Oxford, England) 2015 Oct . Wang Shuang, Zhang Yuchen, Dai Wenrui, Lauter Kristin, Kim Miran, Tang Yuzhe, Xiong Hongkai, Jiang Xiaoqi |
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Mitigating False-Positive Associations in Rare Disease Gene Discovery.
Human mutation 2015 Oct 36 (10): 998-1003. Akle Sebastian, Chun Sung, Jordan Daniel M, Cassa Christopher |
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
Journal of neurology, neurosurgery, and psychiatry 2015 Oct 86 (10): 1060-5. van den Bergen Janneke C, Hiller Monika, Böhringer Stefan, Vijfhuizen Linda, Ginjaar Hendrika B, Chaouch Amina, Bushby Kate, Straub Volker, Scoto Mariacristina, Cirak Sebahattin, Humbertclaude Véronique, Claustres Mireille, Scotton Chiara, Passarelli Chiara, Lochmüller Hanns, Muntoni Francesco, Tuffery-Giraud Sylvie, Ferlini Alessandra, Aartsma-Rus Annemieke M, Verschuuren Jan J G M, 't Hoen Peter Ac, Spitali Piet |
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Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Annals of the rheumatic diseases 2015 Sep . Rothwell Simon, Cooper Robert G, Lundberg Ingrid E, Miller Frederick W, Gregersen Peter K, Bowes John, Vencovsky Jiri, Danko Katalin, Limaye Vidya, Selva-O'Callaghan Albert, Hanna Michael G, Machado Pedro M, Pachman Lauren M, Reed Ann M, Rider Lisa G, Cobb Joanna, Platt Hazel, Molberg Øyvind, Benveniste Olivier, Mathiesen Pernille, Radstake Timothy, Doria Andrea, De Bleecker Jan, De Paepe Boel, Maurer Britta, Ollier William E, Padyukov Leonid, O'Hanlon Terrance P, Lee Annette, Amos Christopher I, Gieger Christian, Meitinger Thomas, Winkelmann Juliane, Wedderburn Lucy R, Chinoy Hector, Lamb Janine A, |
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Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.
Intractable & rare diseases research 2015 Aug 4 (3): 123-30. Cordeiro Lisa, Abucayan Floridette, Hagerman Randi, Tassone Flora, Hessl Dav |
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Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-?B.
The Journal of investigative dermatology 2015 Jul 135 (7): 1905-8. Li Qiaoli, Jin Chung Hye, Ross Nicholas, Keller Matthew, Andrews Jonathan, Kingman Joshua, Sarig Ofer, Fuchs-Telem Dana, Sprecher Eli, Uitto Jou |
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Validation of the association of TCF7L2 and SLC30A8 gene polymorphisms with post-transplant diabetes mellitus in Asian Indian population.
Intractable & rare diseases research 2015 May 4 (2): 87-92. Khan IImran Ali, Jahan Parveen, Hasan Qurratulain, Rao Prag |
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Large-scale discovery of novel genetic causes of developmental disorders.
Nature 2015 Mar 519 (7542): 223-8. Authors are not available |
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Minor allele frequency of myeloproliferative neoplasm mutations in the Irish blood donor population.
Hematological oncology 2015 Feb . Titmarsh Glen J, McKay Gareth J, Lawler Mark, Anderson Lesley A, McMullin Mary Franc |
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47 patients with FLNA associated periventricular nodular heterotopia.
Orphanet journal of rare diseases 2015 10 134. Lange Max, Kasper Burkhard, Bohring Axel, Rutsch Frank, Kluger Gerhard, Hoffjan Sabine, Spranger Stephanie, Behnecke Anne, Ferbert Andreas, Hahn Andreas, Oehl-Jaschkowitz Barbara, Graul-Neumann Luitgard, Diepold Katharina, Schreyer Isolde, Bernhard Matthias K, Mueller Franziska, Siebers-Renelt Ulrike, Beleza-Meireles Ana, Uyanik Goekhan, Janssens Sandra, Boltshauser Eugen, Winkler Juergen, Schuierer Gerhard, Hehr U |
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A robust GWSS method to simultaneously detect rare and common variants for complex disease.
PloS one 2015 10 (4): e0120873. Kao Chung-Feng, Liu Jia-Rou, Hung Hung, Kuo Po-Hs |
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Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.
Journal of translational medicine 2015 13 (1): 16. Lebo Roger V, Tonk Vijay |
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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
Orphanet journal of rare diseases 2015 10 154. Vignoli Aglaia, La Briola Francesca, Peron Angela, Turner Katherine, Vannicola Chiara, Saccani Monica, Magnaghi Elisabetta, Scornavacca Giulia Federica, Canevini Maria Pao |
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Orphanet journal of rare diseases 2015 10 123. Panagiotakaki Eleni, De Grandis Elisa, Stagnaro Michela, Heinzen Erin L, Fons Carmen, Sisodiya Sanjay, de Vries Boukje, Goubau Christophe, Weckhuysen Sarah, Kemlink David, Scheffer Ingrid, Lesca Gaëtan, Rabilloud Muriel, Klich Amna, Ramirez-Camacho Alia, Ulate-Campos Adriana, Campistol Jaume, Giannotta Melania, Moutard Marie-Laure, Doummar Diane, Hubsch-Bonneaud Cecile, Jaffer Fatima, Cross Helen, Gurrieri Fiorella, Tiziano Danilo, Nevsimalova Sona, Nicole Sophie, Neville Brian, van den Maagdenberg Arn M J M, Mikati Mohamad, Goldstein David B, Vavassori Rosaria, Arzimanoglou Alexis, , , |
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.
Orphanet journal of rare diseases 2015 10 (1): 109. Suhr Ole B, Coelho Teresa, Buades Juan, Pouget Jean, Conceicao Isabel, Berk John, Schmidt Hartmut, Waddington-Cruz Márcia, Campistol Josep M, Bettencourt Brian R, Vaishnaw Akshay, Gollob Jared, Adams Dav |
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Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis.
Orphanet journal of rare diseases 2015 10 (1): 3. Sagban Tolga Atilla, Scharf Rüdiger E, Wagenhäuser Markus U, Oberhuber Alexander, Schelzig Hubert, Grabitz Klaus, Duran Mans |
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Familial Mediterranean fever without MEFV mutations: a case-control study.
Orphanet journal of rare diseases 2015 10 34. Ben-Zvi Ilan, Herskovizh Corinne, Kukuy Olga, Kassel Yonatan, Grossman Chagai, Livneh A |
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Genome-wide association study in an admixed case series reveals IL12A as a new candidate in Behçet disease.
PloS one 2015 10 (3): e0119085. Kappen Jasper H, Medina-Gomez Carolina, van Hagen P Martin, Stolk Lisette, Estrada Karol, Rivadeneira Fernando, Uitterlinden Andre G, Stanford Miles R, Ben-Chetrit Eldat, Wallace Graham R, Soylu Merih, van Laar Jan A |
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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Orphanet journal of rare diseases 2015 10 (1): 158. Jeannesson-Thivisol Elise, Feillet François, Chéry Céline, Perrin Pascal, Battaglia-Hsu Shyue-Fang, Herbeth Bernard, Cano Aline, Barth Magalie, Fouilhoux Alain, Mention Karine, Labarthe François, Arnoux Jean-Baptiste, Maillot François, Lenaerts Catherine, Dumesnil Cécile, Wagner Kathy, Terral Daniel, Broué Pierre, de Parscau Loïc, Gay Claire, Kuster Alice, Bédu Antoine, Besson Gérard, Lamireau Delphine, Odent Sylvie, Masurel Alice, Guéant Jean-Louis, Namour Far |
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High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
Orphanet journal of rare diseases 2015 10 (1): 60. Mizutari Kunio, Mutai Hideki, Namba Kazunori, Miyanaga Yuko, Nakano Atsuko, Arimoto Yukiko, Masuda Sawako, Morimoto Noriko, Sakamoto Hirokazu, Kaga Kimitaka, Matsunaga Tats |
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Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension.
Orphanet journal of rare diseases 2015 10 (1): 1. Pousada Guillermo, Baloira Adolfo, Valverde Dia |
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New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
Orphanet journal of rare diseases 2015 10 7. Ceballos-Picot Irène, Le Dantec Aurélia, Brassier Anaïs, Jaïs Jean-Philippe, Ledroit Morgan, Cahu Julie, Ea Hang-Korng, Daignan-Fornier Bertrand, Pinson Beno |
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet journal of rare diseases 2015 10 (1): 85. Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel |
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Orphanet journal of rare diseases 2015 10 103. Barclay Sarah F, Rand Casey M, Borch Lauren A, Nguyen Lisa, Gray Paul A, Gibson William T, Wilson Richard J A, Gordon Paul M K, Aung Zaw, Berry-Kravis Elizabeth M, Ize-Ludlow Diego, Weese-Mayer Debra E, Bech-Hansen N Torb |
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The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
Rare diseases (Austin, Tex.) 2015 3 (1): e1045169. Hernández-Porras Isabel, Jiménez-Catalán Beatriz, Schuhmacher Alberto J, Guerra Carm |
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Clinicopathological features of rare BRAF mutations in Korean thyroid cancer patients.
Journal of Korean medical science 2014 Aug 29 (8): 1054-60. Cho Uiju, Oh Woo Jin, Bae Ja Seong, Lee Sohee, Lee Young Sub, Park Gyeong Sin, Lee Youn Soo, Jung Chan Kw |
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Angiotensin-converting enzyme insertion/deletion polymorphism contributes high risk for chronic kidney disease in Asian male with hypertension--a meta-regression analysis of 98 observational studies.
PloS one 2014 9 (1): e87604. Lin Chin, Yang Hsin-Yi, Wu Chia-Chao, Lee Herng-Sheng, Lin Yuh-Feng, Lu Kuo-Cheng, Chu Chi-Ming, Lin Fu-Huang, Kao Sen-Yeong, Su Sui-Lu |
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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Orphanet journal of rare diseases 2014 9 108. Tayebi Naeimeh, Jamsheer Aleksander, Flöttmann Ricarda, Sowinska-Seidler Anna, Doelken Sandra C, Oehl-Jaschkowitz Barbara, Hülsemann Wiebke, Habenicht Rolf, Klopocki Eva, Mundlos Stefan, Spielmann Mal |
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Orphanet journal of rare diseases 2014 9 (1): 23. Eggens Veerle Rc, Barth Peter G, Niermeijer Jikke-Mien F, Berg Jonathan N, Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D, Makrythanasis Periklis, Máté Adrienn, Nicoll James A R, O'Rourke Declan, Price Sue, Williams Andrew N, Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B, van Meegen Mia T, van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A, Poll-Thé Bwee Tien, Baas Fra |
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Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.
Orphanet journal of rare diseases 2014 9 167. Park Joo Hyun, Kim Nayoung K D, Kim Ah Reum, Rhee Jihye, Oh Seung Ha, Koo Ja-Won, Nam Jae-Yong, Park Woong-Yang, Choi Byung Yo |
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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Orphanet journal of rare diseases 2014 9 8. Klingler Werner, Heiderich Sebastian, Girard Thierry, Gravino Elvira, Heffron James Ja, Johannsen Stephan, Jurkat-Rott Karin, Rüffert Henrik, Schuster Frank, Snoeck Marc, Sorrentino Vincenzo, Tegazzin Vincenzo, Lehmann-Horn Fra |
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
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The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.
Orphanet journal of rare diseases 2014 9 (1): 63. Silva Amanda G, Krepischi Ana C V, Pearson Peter L, Hainaut Pierre, Rosenberg Carla, Achatz Maria Isab |
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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Orphanet journal of rare diseases 2014 9 121. Semmler Anna-Lena, Sacconi Sabrina, Bach J Elisa, Liebe Claus, Bürmann Jan, Kley Rudolf A, Ferbert Andreas, Anderheiden Roland, Van den Bergh Peter, Martin Jean-Jacques, De Jonghe Peter, Neuen-Jacob Eva, Müller Oliver, Deschauer Marcus, Bergmann Markus, Schröder J Michael, Vorgerd Matthias, Schulz Jörg B, Weis Joachim, Kress Wolfram, Claeys Kristl |
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Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Human mutation 2013 Dec 34 (12): 1615-8. Osorio Ana, Bogliolo Massimo, Fernández Victoria, Barroso Alicia, de la Hoya Miguel, Caldés Trinidad, Lasa Adriana, Ramón y Cajal Teresa, Santamariña Marta, Vega Ana, Quiles Francisco, Lázaro Conxi, Díez Orland, Fernández Daniel, González-Sarmiento Rogelio, Durán Mercedes, Piqueras José Fernández, Marín Maria, Pujol Roser, Surrallés Jordi, Benítez Javi |
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Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease).
Rare diseases (Austin, Tex.) 2013 Dec 1 (1): 1. Xie Zhihui, Nagarajan Vijayaraj, Sturdevant Daniel E, Iwaki Shoko, Chan Eunice, Wisch Laura, Young Michael, Nelson Celeste M, Porcella Stephen F, Druey Kirk |
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Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2013 Dec 22 (12): 2269-76. Evans D Gareth R, Ingham Sarah L, Buchan Iain, Woodward Emma R, Byers Helen, Howell Anthony, Maher Eamonn R, Newman William G, Lalloo Fio |
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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Nature genetics 2013 Sep 45 (9): 1044-9. Bezzina Connie R, Barc Julien, Mizusawa Yuka, Remme Carol Ann, Gourraud Jean-Baptiste, Simonet Floriane, Verkerk Arie O, Schwartz Peter J, Crotti Lia, Dagradi Federica, Guicheney Pascale, Fressart Véronique, Leenhardt Antoine, Antzelevitch Charles, Bartkowiak Susan, Borggrefe Martin, Schimpf Rainer, Schulze-Bahr Eric, Zumhagen Sven, Behr Elijah R, Bastiaenen Rachel, Tfelt-Hansen Jacob, Olesen Morten Salling, Kääb Stefan, Beckmann Britt M, Weeke Peter, Watanabe Hiroshi, Endo Naoto, Minamino Tohru, Horie Minoru, Ohno Seiko, Hasegawa Kanae, Makita Naomasa, Nogami Akihiko, Shimizu Wataru, Aiba Takeshi, Froguel Philippe, Balkau Beverley, Lantieri Olivier, Torchio Margherita, Wiese Cornelia, Weber David, Wolswinkel Rianne, Coronel Ruben, Boukens Bas J, Bézieau Stéphane, Charpentier Eric, Chatel Stéphanie, Despres Aurore, Gros Françoise, Kyndt Florence, Lecointe Simon, Lindenbaum Pierre, Portero Vincent, Violleau Jade, Gessler Manfred, Tan Hanno L, Roden Dan M, Christoffels Vincent M, Le Marec Hervé, Wilde Arthur A, Probst Vincent, Schott Jean-Jacques, Dina Christian, Redon Richa |
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A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
The Journal of clinical endocrinology and metabolism 2013 Jul 98 (7): E1248-56. Rattenberry Eleanor, Vialard Lindsey, Yeung Anna, Bair Hayley, McKay Kirsten, Jafri Mariam, Canham Natalie, Cole Trevor R, Denes Judit, Hodgson Shirley V, Irving Richard, Izatt Louise, Korbonits Márta, Kumar Ajith V, Lalloo Fiona, Morrison Patrick J, Woodward Emma R, Macdonald Fiona, Wallis Yvonne, Maher Eamonn |
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Orphanet journal of rare diseases 2013 May 8 (1): 1. Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzzara C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, Ann I, Jaquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L |
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Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Journal of the American Society of Nephrology : JASN 2013 Feb 24 (3): 475-86. Bresin Elena, Rurali Erica, Caprioli Jessica, Sanchez-Corral Pilar, Fremeaux-Bacchi Veronique, Rodriguez de Cordoba Santiago, Pinto Sheila, Goodship Timothy H J, Alberti Marta, Ribes David, Valoti Elisabetta, Remuzzi Giuseppe, Noris Marina, |
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Orphanet journal of rare diseases 2013 Feb 8 (1): 1. Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C |
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Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Orphanet journal of rare diseases 2013 8 . Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A |
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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
PloS one 2013 8 (7): e67538. Blanco Ana, de la Hoya Miguel, Osorio Ana, Diez Orland, Miramar María Dolores, Infante Mar, Martinez-Bouzas Cristina, Torres Asunción, Lasa Adriana, Llort Gemma, Brunet Joan, Graña Begoña, Perez Segura Pedro, Garcia María José, Gutiérrez-Enríquez Sara, Carracedo Ángel, Tejada María-Isabel, Velasco Eladio A, Calvo María-Teresa, Balmaña Judith, Benitez Javier, Caldés Trinidad, Vega A |
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Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.
Orphanet journal of rare diseases 2013 8 (1): 176. Nabbout Rima, Chemaly Nicole, Chipaux Mathilde, Barcia Giulia, Bouis Charles, Dubouch Celia, Leunen Dorothee, Jambaqué Isabelle, Dulac Olivier, Dellatolas Georges, Chiron Catheri |
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Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.
Orphanet journal of rare diseases 2013 8 (1): 54. Torrezan Giovana Tardin, da Silva Felipe Cavalcanti Carneiro, Santos Erika Maria Monteiro, Krepischi Ana Cristina Victorino, Achatz Maria Isabel Waddington, Aguiar Samuel, Rossi Benedito Mauro, Carraro Dirce Mar |
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Orphanet journal of rare diseases 2013 8 (1): 102. Couce Maria Luz, Sánchez-Pintos Paula, Diogo Luisa, Leão-Teles Elisa, Martins Esmeralda, Santos Helena, Bueno Maria Amor, Delgado-Pecellín Carmen, Castiñeiras Daisy E, Cocho José A, García-Villoria Judit, Ribes Antonia, Fraga José M, Rocha Hu |
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TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
Orphanet journal of rare diseases 2013 8 (1): 125. Sandbacka Maria, Laivuori Hannele, Freitas Érika, Halttunen Mervi, Jokimaa Varpu, Morin-Papunen Laure, Rosenberg Carla, Aittomäki Kristii |
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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Orphanet journal of rare diseases 2013 8 (1): 103. Anjema Karen, van Rijn Margreet, Hofstede Floris C, Bosch Annet M, Hollak Carla E M, Rubio-Gozalbo Estela, de Vries Maaike C, Janssen Mirian C H, Boelen Carolien C A, Burgerhof Johannes G M, Blau Nenad, Heiner-Fokkema M Rebecca, van Spronsen Francjan |
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Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
Psychiatric genetics 2012 Dec . Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, Del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B |
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Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.
Orphanet journal of rare diseases 2012 Dec 7 (1): 1. Fernández RM, Bleda M, Núñez-Torres R, Medina I, Luzón-Toro B, García-Alonso L, Torroglosa A, Marbà M, Enguix-Riego MV, Montaner D, Antiñolo G, Dopazo J, Borrego S |
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Number of rare germline CNVs and TP53mutation types.
Orphanet journal of rare diseases 2012 Dec 7 (1): 1. Silva AG, Achatz MI, Krepischi AC, Pearson PL, Rosenberg C |
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Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
Clinical endocrinology 2012 Oct 77 (4): 564-74. Camats Núria, Fernández-Cancio Mónica, Carrascosa Antonio, Andaluz Pilar, Albisu M Ángeles, Clemente María, Gussinyé Miquel, Yeste Diego, Audí Lau |
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Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma and paraganglioma and head and neck paraganglioma (HNPGL).
Clinical endocrinology 2012 Oct . Jafri M, Whitworth J, Rattenberry E, Bradley L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER |
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Methotrexate consolidation treatment according to pharmacogenetics of MTHFR ameliorates event-free survival in childhood acute lymphoblastic leukaemia.
The pharmacogenomics journal 2012 Oct 12 (5): 379-85. Salazar J, Altés A, del Río E, Estella J, Rives S, Tasso M, Navajas A, Molina J, Villa M, Vivanco J L, Torrent M, Baiget M, Badell |
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An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples.
Psychiatric genetics 2012 Aug 22 (4): 155-60. Ribasés Marta, Sánchez-Mora Cristina, Ramos-Quiroga Josep Antoni, Bosch Rosa, Gómez Núria, Nogueira Mariana, Corrales Montse, Palomar Gloria, Jacob Christian P, Gross-Lesch Silke, Kreiker Susanne, Reif Andreas, Lesch Klaus Peter, Cormand Bru, Casas Miquel, Bayés Móni |
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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Human mutation 2012 Aug . García-Redondo A, Dols-Icardo O, Rojas R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, Rodríguez de la Rivera FJ, Pastor P, Jericó I, Alvarez de Arcaya A, Mora JS, Clarimón J |
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LPIN1 rs13412852 polymorphism in pediatric nonalcoholic fatty liver disease.
Journal of pediatric gastroenterology and nutrition 2012 May 54 (5): 588-93. Valenti Luca, Motta Benedetta Maria, Alisi Anna, Sartorelli Rita, Buonaiuto Giulia, Dongiovanni Paola, Rametta Raffaela, Pelusi Serena, Fargion Silvia, Nobili Valer |
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Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study.
Pigment cell & melanoma research 2012 Feb . Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, Nagore E, Hansson J, Höiom V, Ghiorzo P, Gruis NA, Kanetsky PA, Wendt J, Pjanova D, Puig S, Saiag P, Schadendorf D, Soufir N, Okamoto I, Affleck P, García-Casado Z, Ogbah Z, Ozola A, Queirolo P, Sucker A, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J |
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GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
Journal of hepatology 2012 Jan 56 (1): 184-91. Nault Jean Charles, Fabre Monique, Couchy Gabrielle, Pilati Camilla, Jeannot Emmanuelle, Tran Van Nhieu Jeanne, Saint-Paul Marie-Christine, De Muret Anne, Redon Marie-José, Buffet Catherine, Salenave Sylvie, Balabaud Charles, Prevot Sophie, Labrune Philippe, Bioulac-Sage Paulette, Scoazec Jean-Yves, Chanson Philippe, Zucman-Rossi Jessi |
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ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure.
Orphanet journal of rare diseases 2012 7 (1): 5. Qin Yingying, Sun Mei, You Li, Wei Deying, Sun Jielin, Liang Xiaoyan, Zhang Bo, Jiang Hong, Xu Jianfeng, Chen Zi-Jia |
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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Orphanet journal of rare diseases 2012 7 (1): 30. Touw Catharina M L, Smit G Peter A, de Vries Maaike, de Klerk Johannis B C, Bosch Annet M, Visser Gepke, Mulder Margot F, Rubio-Gozalbo M Estela, Elvers Bert, Niezen-Koning Klary E, Wanders Ronald J A, Waterham Hans R, Reijngoud Dirk-Jan, Derks Terry G |
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