Literature DB >> 29656336

Combined Immunodeficiency with Ring Chromosome 21.

Melissa Norman1,2, Brynn Wainstein3,4, Antoinette Anazodo5,6,7, Anne Turner4,8,9, Cindy Ma10,11, Kathryn Payne10, Stuart G Tangye10,11, Paul Gray3,4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29656336     DOI： 10.1007/s10875-018-0493-z

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  7 in total

1.  [Chromosome 21 ring (r21) and epilepsy].

Authors:  J M Pardal Fernández; P Jerez García; M C Carrascosa Romero; J Marco Giner
Journal:  An Pediatr (Barc)       Date:  2004-04       Impact factor: 1.500

2.  Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

Authors:  R Dalgleish; D P Duckett; M Woodhouse; R S Shannon; I D Young
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

3.  Hypogammaglobulinaemia in a patient with ring chromosome 21.

Authors:  S Ohga; F Nakao; O Narazaki; N Fusazaki; T Aoki; K Kamesaki; T Hara
Journal:  Arch Dis Child       Date:  1997-09       Impact factor: 3.791

4.  Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.

Authors:  Bodo Grimbacher; Andreas Hutloff; Michael Schlesier; Erik Glocker; Klaus Warnatz; Ruth Dräger; Hermann Eibel; Beate Fischer; Alejandro A Schäffer; Hans W Mages; Richard A Kroczek; Hans H Peter
Journal:  Nat Immunol       Date:  2003-02-10       Impact factor: 25.606

5.  Combined immunodeficiency in a patient with mosaic monosomy 21.

Authors:  Erez Rechavi; Sarina Levy-Mendelovich; Tali Stauber; Jana Shamash; Shlomit Reinstein; Helly Vernitsky; Dganit Adam; Amos J Simon; Atar Lev; Annick Raas-Rothschild; Raz Somech
Journal:  Immunol Res       Date:  2016-08       Impact factor: 2.829

6.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

7.  The ExAC browser: displaying reference data information from over 60 000 exomes.

Authors:  Konrad J Karczewski; Ben Weisburd; Brett Thomas; Matthew Solomonson; Douglas M Ruderfer; David Kavanagh; Tymor Hamamsy; Monkol Lek; Kaitlin E Samocha; Beryl B Cummings; Daniel Birnbaum; Mark J Daly; Daniel G MacArthur
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.