Literature DB >> 24357714

Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.

Giovanna D'Andrea1, Michele Schiavulli, Claudia Dimatteo, Rosa Santacroce, Egidio Guerra, Vittoria A C Longo, Elvira Grandone, Maurizio Margaglione.   

Abstract

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Year:  2013        PMID： 24357714     DOI： 10.1182/blood-2013-09-528943

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  3 in total

1.  A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Authors:  Jillian P Casey; Patricia Goggin; Jennifer McDaid; Martin White; Sean Ennis; David R Betts; Jane S Lucas; Basil Elnazir; Sally Ann Lynch
Journal:  BMC Med Genet       Date:  2015-06-30       Impact factor: 2.103

2.  Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Authors:  Jenny Lord; Dominic J McMullan; Ruth Y Eberhardt; Gabriele Rinck; Susan J Hamilton; Elizabeth Quinlan-Jones; Elena Prigmore; Rebecca Keelagher; Sunayna K Best; Georgina K Carey; Rhiannon Mellis; Sarah Robart; Ian R Berry; Kate E Chandler; Deirdre Cilliers; Lara Cresswell; Sandra L Edwards; Carol Gardiner; Alex Henderson; Simon T Holden; Tessa Homfray; Tracy Lester; Rebecca A Lewis; Ruth Newbury-Ecob; Katrina Prescott; Oliver W Quarrell; Simon C Ramsden; Eileen Roberts; Dagmar Tapon; Madeleine J Tooley; Pradeep C Vasudevan; Astrid P Weber; Diana G Wellesley; Paul Westwood; Helen White; Michael Parker; Denise Williams; Lucy Jenkins; Richard H Scott; Mark D Kilby; Lyn S Chitty; Matthew E Hurles; Eamonn R Maher
Journal:  Lancet       Date:  2019-01-31       Impact factor: 202.731

Review 3.  Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.

Authors:  Adam J Shapiro; Maimoona A Zariwala; Thomas Ferkol; Stephanie D Davis; Scott D Sagel; Sharon D Dell; Margaret Rosenfeld; Kenneth N Olivier; Carlos Milla; Sam J Daniel; Adam J Kimple; Michele Manion; Michael R Knowles; Margaret W Leigh
Journal:  Pediatr Pulmonol       Date:  2015-09-29
  3 in total

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