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There are 79463 results for: content related to: Immunodeficiency in Vici syndrome: A heterogeneous phenotype

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  1. Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 2, February 2012, Pages: 440–444, Edith Said, Doriette Soler and Caroline Sewry

    Article first published online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34273

  2. Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 189–194, Rie Miyata, Masaharu Hayashi, Hiroyuki Sato, Yuji Sugawara, Takako Yui, Satoshi Araki, Takeshi Hasegawa, Shozaburo Doi and Jun Kohyama

    Article first published online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31584

  3. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 741–747, Verity McClelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello, Valerie Biancalana, J. Boehm, Marc Bitoun, Owen Miller, Wajanat Jan, Esse Menson, Luis Amaya, John Trounce, Jocelyn Laporte, Shehla Mohammed, Caroline Sewry, Julian Raiman and Heinz Jungbluth

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33296

  4. De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 927–931, Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak and Francesco Brancati

    Article first published online : 12 MAR 2012, DOI: 10.1002/ajmg.a.35231

  5. Vici syndrome associated with unilateral lung hypoplasia and myopathy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1849–1853, Mohammed Al-Owain, Amal Al-Hashem, Mohammed Al-Muhaizea, Hani Humaidan, Hindi Al-Hindi, Iftetah Al-Homoud and Ibrahim Al-Mogarri

    Article first published online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33421

  6. A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2543–2551, Viola Alesi, Giuseppe Barrano, Sara Morara, Daria Darelli, Katia Petrilli, Anna Capalbo, Mario Pacella, Cristina Haass, Maurizio Finocchi, Antonio Novelli and Marta Bertoli

    Article first published online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34201

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    Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 1, January 2013, Pages: 17–23, Adriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, Francesco Giuseppe Garaci, Patrizio Bollero, Paolo Alfieri and Paolo Curatolo

    Article first published online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32113

  8. Expression of phosphoinositide-specific phospholipase C isoenzymes in cultured astrocytes activated after stimulation with lipopolysaccharide

    Journal of Cellular Biochemistry

    Volume 109, Issue 5, 1 April 2010, Pages: 1006–1012, Vincenza Rita Lo Vasco, Cinzia Fabrizi, Lorenzo Fumagalli and L. Cocco

    Article first published online : 15 JAN 2010, DOI: 10.1002/jcb.22480

  9. Pleural mesothelioma mortality and asbestos exposure mapping in Italy

    American Journal of Industrial Medicine

    Volume 55, Issue 1, January 2012, Pages: 11–24, Lucia Fazzo, Marco De Santis, Giada Minelli, Caterina Bruno, Amerigo Zona, Alessandro Marinaccio, Susanna Conti and Pietro Comba

    Article first published online : 24 OCT 2011, DOI: 10.1002/ajim.21015

  10. Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2459–2464, Paolo Alfieri, Laura Cesarini, Paola De Rose, Daniela Ricci, Angelo Selicorni, Deny Menghini, Andrea Guzzetta, Giovanni Baranello, Francesca Tinelli, Maria Mallardi, Giuseppe Zampino, Stefano Vicari, Janette Atkinson and Eugenio Mercuri

    Article first published online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34229

  11. Expression pattern and sub-cellular distribution of phosphoinositide specific phospholipase C enzymes after treatment with U-73122 in rat astrocytoma cells

    Journal of Cellular Biochemistry

    Volume 110, Issue 4, 1 July 2010, Pages: 1005–1012, Vincenza Rita Lo Vasco, Cinzia Fabrizi, Barbara Panetta, Lorenzo Fumagalli and Lucio Cocco

    Article first published online : 26 APR 2010, DOI: 10.1002/jcb.22614

  12. Malnutrition and pancreatic surgery: Prevalence and outcomes

    Journal of Surgical Oncology

    Marco La Torre, Vincenzo Ziparo, Giuseppe Nigri, Marco Cavallini, Genoveffa Balducci and Giovanni Ramacciato

    Article first published online : 27 DEC 2012, DOI: 10.1002/jso.23304

  13. Treatment of advanced neuroblastoma in children over 1 year of age: The critical role of 131I-metaiodobenzylguanidine combined with chemotherapy in a rapid induction regimen

    Pediatric Blood & Cancer

    Volume 56, Issue 7, 1 July 2011, Pages: 1032–1040, Stefano Mastrangelo, Vittoria Rufini, Antonio Ruggiero, Angela Di Giannatale and Riccardo Riccardi

    Article first published online : 22 FEB 2011, DOI: 10.1002/pbc.22986

  14. Association study of a promoter polymorphism of UFD1L gene with schizophrenia

    American Journal of Medical Genetics

    Volume 105, Issue 6, 8 August 2001, Pages: 529–533, Alessandro De Luca, Augusto Pasini, Francesca Amati, Annalisa Botta, Gianfranco Spalletta, Serenella Alimenti, Francesca Caccamo, Emanuela Conti, Joseph Trakalo, Fabio Macciardi, Bruno Dallapiccola and Giuseppe Novelli

    Article first published online : 26 JUN 2001, DOI: 10.1002/ajmg.1489

  15. Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 556–564, Marco Castori, Filippo Camerota, Claudia Celletti, Chiara Danese, Valter Santilli, Vincenzo Maria Saraceni and Paola Grammatico

    Article first published online : 5 FEB 2010, DOI: 10.1002/ajmg.a.33231

  16. Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 2043–2047, Marco Castori, Michele Valiante, Marco Ritelli, Nicoletta Preziosi, Marina Colombi, Mauro Paradisi and Paola Grammatico

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.33490

  17. Technological change and innovation behaviour in high level education: An international comparison between Italian and Portuguese samples

    Knowledge and Process Management

    Volume 18, Issue 1, February 2011, Pages: 67–74, Guendalina Capece and Domenico Campisi

    Article first published online : 25 JAN 2011, DOI: 10.1002/kpm.362

  18. Follicular lymphoma at relapse after rituximab containing regimens: comparison of time to event intervals prior to and after 90Y-ibritumomab-tiuxetan

    Hematological Oncology

    Volume 29, Issue 3, September 2011, Pages: 131–138, Francesco Cicone, Eleonora Russo, Andrea Carpaneto, John O. Prior, Angelika Bischof Delaloye, Francesco Scopinaro and Nicolas Ketterer

    Article first published online : 22 SEP 2010, DOI: 10.1002/hon.968

  19. Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2501–2511, Chayim Can Schell-Apacik, Kristina Wagner, Moritz Bihler, Birgit Ertl-Wagner, Uwe Heinrich, Eva Klopocki, Vera M. Kalscheuer, Maximilian Muenke and Hubertus von Voss

    Article first published online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32476

  20. Peroxisomal acyl-CoA-oxidase deficiency: Two new cases

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1676–1681, Rosalba Carrozzo, Carlo Bellini, Simona Lucioli, Federica Deodato, Denise Cassandrini, Michela Cassanello, Ubaldo Caruso, Cristiano Rizzo, Teresa Rizza, Matteo L. Napolitano, Ronald J.A. Wanders, Cornelis Jakobs, Claudio Bruno, Filippo M. Santorelli, Carlo Dionisi-Vici and Eugenio Bonioli

    Article first published online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32298

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