Literature DB >> 28000702

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring.

Ron Hochstenbach1, Anna Slunga-Tallberg2, Caroline Devlin3, Giovanna Floridia4, Marta Rodríguez de Alba5, Shama Bhola6, Katrina Rack7, Ros Hastings7.   

Abstract

Mesh：

Year:  2016        PMID： 28000702      PMCID： PMC5315513          DOI： 10.1038/ejhg.2016.177

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


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  8 in total

Review 1.  Exome sequencing and whole genome sequencing for the detection of copy number variation.

Authors:  Jayne Y Hehir-Kwa; Rolph Pfundt; Joris A Veltman
Journal:  Expert Rev Mol Diagn       Date:  2015-06-18       Impact factor: 5.225

Review 2.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

Review 3.  The Y chromosome-linked copy number variations and male fertility.

Authors:  C Krausz; C Chianese; C Giachini; E Guarducci; I Laface; G Forti
Journal:  J Endocrinol Invest       Date:  2011-03-21       Impact factor: 4.256

4.  AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test.

Authors:  R A Brandell; A Mielnik; D Liotta; Z Ye; L L Veeck; G D Palermo; P N Schlegel
Journal:  Hum Reprod       Date:  1998-10       Impact factor: 6.918

5.  Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.

Authors:  Julian Lange; Helen Skaletsky; Saskia K M van Daalen; Stephanie L Embry; Cindy M Korver; Laura G Brown; Robert D Oates; Sherman Silber; Sjoerd Repping; David C Page
Journal:  Cell       Date:  2009-09-04       Impact factor: 41.582

6.  Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Authors:  Ron Hochstenbach; Ellen van Binsbergen; John Engelen; Aggie Nieuwint; Abeltje Polstra; Pino Poddighe; Claudia Ruivenkamp; Birgit Sikkema-Raddatz; Dominique Smeets; Martin Poot
Journal:  Eur J Med Genet       Date:  2009-04-09       Impact factor: 2.708

Review 7.  Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?

Authors:  C Krausz; L Quintana-Murci; K McElreavey
Journal:  Hum Reprod       Date:  2000-07       Impact factor: 6.918

8.  Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Authors:  Mireille Claustres; Viktor Kožich; Els Dequeker; Brain Fowler; Jayne Y Hehir-Kwa; Konstantin Miller; Cor Oosterwijk; Borut Peterlin; Conny van Ravenswaaij-Arts; Uwe Zimmermann; Orsetta Zuffardi; Ros J Hastings; David E Barton
Journal:  Eur J Hum Genet       Date:  2013-08-14       Impact factor: 4.246
  8 in total

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