Literature DB >> 19178939

Novel presentation of Omenn syndrome in association with aniridia.

William J Sheehan, Ottavia M Delmonte, David T Miller, Amy E Roberts, Francisco A Bonilla, Massimo Morra, Silvia Giliani, Sung-Yun Pai, Luigi D Notarangelo, Hans C Oettgen.   

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Year:  2009        PMID： 19178939      PMCID： PMC2688768          DOI： 10.1016/j.jaci.2008.12.007

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

Authors:  Iram J Haq; Laura J Steinberg; Manfred Hoenig; Mirjam van der Burg; Anna Villa; Andrew J Cant; Peter G Middleton; Andrew R Gennery
Journal:  Clin Immunol       Date:  2007-06-14       Impact factor: 3.969

Review 2.  Reviewing Omenn syndrome.

Authors:  K Aleman; J G Noordzij; R de Groot; J J van Dongen; N G Hartwig
Journal:  Eur J Pediatr       Date:  2001-12       Impact factor: 3.183

3.  Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Authors:  D Moshous; I Callebaut; R de Chasseval; B Corneo; M Cavazzana-Calvo; F Le Deist; I Tezcan; O Sanal; Y Bertrand; N Philippe; A Fischer; J P de Villartay
Journal:  Cell       Date:  2001-04-20       Impact factor: 41.582

4.  Mutations in the PAX6 gene in patients with hereditary aniridia.

Authors:  A Davis; J K Cowell
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

5.  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Authors:  David O Robinson; Rachel J Howarth; Kathleen A Williamson; Veronica van Heyningen; Sarah J Beal; John A Crolla
Journal:  Am J Med Genet A       Date:  2008-03-01       Impact factor: 2.802

6.  V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Authors:  A Villa; C Sobacchi; L D Notarangelo; F Bozzi; M Abinun; T G Abrahamsen; P D Arkwright; M Baniyash; E G Brooks; M E Conley; P Cortes; M Duse; A Fasth; A M Filipovich; A J Infante; A Jones; E Mazzolari; S M Muller; S Pasic; G Rechavi; M G Sacco; S Santagata; M L Schroeder; R Seger; D Strina; A Ugazio; J Väliaho; M Vihinen; L B Vogler; H Ochs; P Vezzoni; W Friedrich; K Schwarz
Journal:  Blood       Date:  2001-01-01       Impact factor: 22.113

Review 7.  Primary immunodeficiency mutation databases.

Authors:  M Vihinen; F X Arredondo-Vega; J L Casanova; A Etzioni; S Giliani; L Hammarström; M S Hershfield; P G Heyworth; A P Hsu; A Lähdesmäki; I Lappalainen; L D Notarangelo; J M Puck; W Reith; D Roos; R F Schumacher; K Schwarz; P Vezzoni; A Villa; J Väliaho; C I Smith
Journal:  Adv Genet       Date:  2001       Impact factor: 1.944

8.  Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

Authors:  John A Crolla; Veronica van Heyningen
Journal:  Am J Hum Genet       Date:  2002-10-17       Impact factor: 11.025

9.  Partial V(D)J recombination activity leads to Omenn syndrome.

Authors:  A Villa; S Santagata; F Bozzi; S Giliani; A Frattini; L Imberti; L B Gatta; H D Ochs; K Schwarz; L D Notarangelo; P Vezzoni; E Spanopoulou
Journal:  Cell       Date:  1998-05-29       Impact factor: 41.582
  9 in total
  4 in total

1.  RAG1 deficiency may present clinically as selective IgA deficiency.

Authors:  Tamaki Kato; Elena Crestani; Chikako Kamae; Kenichi Honma; Tomoko Yokosuka; Takeshi Ikegawa; Naonori Nishida; Hirokazu Kanegane; Taizo Wada; Akihiro Yachie; Osamu Ohara; Tomohiro Morio; Luigi D Notarangelo; Kohsuke Imai; Shigeaki Nonoyama
Journal:  J Clin Immunol       Date:  2015-03-06       Impact factor: 8.317

Review 2.  Advances in basic and clinical immunology in 2009.

Authors:  Javier Chinen; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2010-03       Impact factor: 10.793

3.  Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.

Authors:  Vanessa Sodré de Souza; Gabriela Corassa Rodrigues da Cunha; Beatriz R Versiani; Claudiner Pereira de Oliveira; Maria Teresa Alves Silva Rosa; Silviene F de Oliveira; Patricia N Moretti; Juliana F Mazzeu; Aline Pic-Taylor
Journal:  Mol Syndromol       Date:  2022-02-11

4.  Congenital aniridia: etiology, manifestations and management.

Authors:  Monica Samant; Bharesh K Chauhan; Kira L Lathrop; Ken K Nischal
Journal:  Expert Rev Ophthalmol       Date:  2016-03-09
  4 in total

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