Literature DB >> 30206352

Genetic testing for DADA2: How can we avoid missing patients?

Hafize Emine Sönmez1, Ezgi Deniz Batu1, Ekim Z Taşkıran2,3, Mehmet Alikaşifoğlu2,3, Yelda Bilginer1,3, Seza Özen4,5.   

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Year:  2018        PMID： 30206352      PMCID： PMC6189089          DOI： 10.1038/s41431-018-0240-1

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

Authors:  Ezgi Deniz Batu; Omer Karadag; Ekim Zihni Taskiran; Umut Kalyoncu; Ivona Aksentijevich; Mehmet Alikasifoglu; Seza Özen
Journal:  J Rheumatol       Date:  2015-08       Impact factor: 4.666

Review 2.  Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis.

Authors:  Yackov Berkun; Reeval Segel; Paulina Navon-Elkan
Journal:  Isr Med Assoc J       Date:  2017-07       Impact factor: 0.892

3.  Mutant ADA2 in vasculopathies.

Authors:  Joris van Montfrans; Andrey Zavialov; Qing Zhou
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

4.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

5.  Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.

Authors:  Ekim Z Taşkıran; Hafize E Sönmez; Deniz Ç Ayvaz; Can Koşukcu; Ezgi D Batu; Saliha Esenboğa; Rezan Topaloğlu; Diclehan Orhan; Yelda Bilginer; Mehmet Alikaşifoğlu; Seza Özen; İlhan Tezcan
Journal:  Clin Immunol       Date:  2017-11-07       Impact factor: 3.969

6.  Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Authors:  Johanna Schepp; Michele Proietti; Natalie Frede; Mary Buchta; Katrin Hübscher; Jessica Rojas Restrepo; Sigune Goldacker; Klaus Warnatz; Jana Pachlopnik Schmid; Andrea Duppenthaler; Vassilios Lougaris; Ignacio Uriarte; Susan Kelly; Michael Hershfield; Bodo Grimbacher
Journal:  Arthritis Rheumatol       Date:  2017-07-05       Impact factor: 10.995

7.  A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Authors:  Mélanie Rama; Claire Duflos; Isabelle Melki; Didier Bessis; Axelle Bonhomme; Hélène Martin; Diane Doummar; Stéphanie Valence; Diana Rodriguez; Emilie Carme; David Genevieve; Ketil Heimdal; Antonella Insalaco; Nathalie Franck; Viviane Queyrel-Moranne; Nathalie Tieulie; Jonathan London; Florence Uettwiller; Sophie Georgin-Lavialle; Alexandre Belot; Isabelle Koné-Paut; Véronique Hentgen; Guilaine Boursier; Isabelle Touitou; Guillaume Sarrabay
Journal:  Eur J Hum Genet       Date:  2018-04-23       Impact factor: 4.246

8.  Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.

Authors:  Hasan Hashem; Rachel Egler; Jignesh Dalal
Journal:  J Pediatr Hematol Oncol       Date:  2017-07       Impact factor: 1.289

9.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Authors:  Paulina Navon Elkan; Sarah B Pierce; Reeval Segel; Tom Walsh; Judith Barash; Shai Padeh; Abraham Zlotogorski; Yackov Berkun; Joseph J Press; Masha Mukamel; Isabel Voth; Philip J Hashkes; Liora Harel; Vered Hoffer; Eduard Ling; Fatos Yalcinkaya; Ozgur Kasapcopur; Ming K Lee; Rachel E Klevit; Paul Renbaum; Ariella Weinberg-Shukron; Elif F Sener; Barbara Schormair; Sharon Zeligson; Dina Marek-Yagel; Tim M Strom; Mordechai Shohat; Amihood Singer; Alan Rubinow; Elon Pras; Juliane Winkelmann; Mustafa Tekin; Yair Anikster; Mary-Claire King; Ephrat Levy-Lahad
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

10.  Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Authors:  Tal Ben-Ami; Shoshana Revel-Vilk; Rebecca Brooks; Avraham Shaag; Michael S Hershfield; Susan J Kelly; Nancy J Ganson; Shlomit Kfir-Erenfeld; Michael Weintraub; Orly Elpeleg; Yackov Berkun; Polina Stepensky
Journal:  J Pediatr       Date:  2016-08-08       Impact factor: 4.406
  10 in total
  2 in total

1.  Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Authors:  Fahad Alabbas; Talal Alanzi; Abdulrahman Alrasheed; Mohammed Essa; Ghaleb Elyamany; Abdulrahman Asiri; Sajdi Almutairi; Sulaiman Al-Mayouf; Abdullatif Alenazi; Danyah Alsafadi; Walid Ballourah; Naif Albalawi; Ehab Hanafy; Abdulqader Al-Hebshi; Seham Alrashidi; Fatma Albatniji; Huda Alfaraidi; Tahani Bin Ali; Mansour Al Qwaiee; Maryam AlHilali; Hayam Aldeeb; Ali Alhaidey; Hassan Aljasem; Sami Althubaiti; Abdulrahman Alsultan
Journal:  J Clin Immunol       Date:  2022-10-14       Impact factor: 8.542

Review 2.  The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.

Authors:  Jennifer Lee Kendall; Jason Michael Springer
Journal:  Curr Rheumatol Rep       Date:  2020-08-26       Impact factor: 4.592
  2 in total

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