Literature DB >> 24193341

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.

Malgorzata I Srebniak1, Karin E M Diderich1, Lutgarde C P Govaerts1, Marieke Joosten1, Sam Riedijk1, Robert Jan H Galjaard1, Diane Van Opstal1.   

Abstract

Mesh：

Year:  2013        PMID： 24193341      PMCID： PMC4060108          DOI： 10.1038/ejhg.2013.254

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


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  22 in total

1.  Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype.

Authors:  T Y Leung; I Vogel; T K Lau; W Chong; J A Hyett; O B Petersen; K W Choy
Journal:  Ultrasound Obstet Gynecol       Date:  2011-08-10       Impact factor: 7.299

2.  Prenatal diagnosis using array-CGH: a French experience.

Authors:  Caroline Rooryck; Jérôme Toutain; Dorothée Cailley; Julie Bouron; Jacques Horovitz; Didier Lacombe; Benoit Arveiler; Robert Saura
Journal:  Eur J Med Genet       Date:  2013-02-20       Impact factor: 2.708

3.  Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases.

Authors:  Francesco Fiorentino; Fiorina Caiazzo; Stefania Napolitano; Letizia Spizzichino; Sara Bono; Mariateresa Sessa; Andrea Nuccitelli; Anil Biricik; Anthony Gordon; Giuseppe Rizzo; Marina Baldi
Journal:  Prenat Diagn       Date:  2011-10-28       Impact factor: 3.050

4.  Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.

Authors:  D L Bruno; S M White; D Ganesamoorthy; T Burgess; K Butler; S Corrie; D Francis; L Hills; K Prabhakara; C Ngo; F Norris; R Oertel; M D Pertile; Z Stark; D J Amor; H R Slater
Journal:  J Med Genet       Date:  2011-10-29       Impact factor: 6.318

Review 5.  Towards an evidence-based process for the clinical interpretation of copy number variation.

Authors:  E R Riggs; D M Church; K Hanson; V L Horner; E B Kaminsky; R M Kuhn; K E Wain; E S Williams; S Aradhya; H M Kearney; D H Ledbetter; S T South; E C Thorland; C L Martin
Journal:  Clin Genet       Date:  2011-12-13       Impact factor: 4.438

6.  American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Authors:  Hutton M Kearney; Erik C Thorland; Kerry K Brown; Fabiola Quintero-Rivera; Sarah T South
Journal:  Genet Med       Date:  2011-07       Impact factor: 8.822

7.  Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases.

Authors:  F Scott; K Murphy; L Carey; W Greville; N Mansfield; P Barahona; R Robertson; A McLennan
Journal:  Ultrasound Obstet Gynecol       Date:  2013-05       Impact factor: 7.299

8.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Authors:  Santhosh Girirajan; Jill A Rosenfeld; Bradley P Coe; Sumit Parikh; Neil Friedman; Amy Goldstein; Robyn A Filipink; Juliann S McConnell; Brad Angle; Wendy S Meschino; Marjan M Nezarati; Alexander Asamoah; Kelly E Jackson; Gordon C Gowans; Judith A Martin; Erin P Carmany; David W Stockton; Rhonda E Schnur; Lynette S Penney; Donna M Martin; Salmo Raskin; Kathleen Leppig; Heidi Thiese; Rosemarie Smith; Erika Aberg; Dmitriy M Niyazov; Luis F Escobar; Dima El-Khechen; Kisha D Johnson; Robert R Lebel; Kiana Siefkas; Susie Ball; Natasha Shur; Marianne McGuire; Campbell K Brasington; J Edward Spence; Laura S Martin; Carol Clericuzio; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  N Engl J Med       Date:  2012-09-12       Impact factor: 91.245

9.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

10.  Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Authors:  Lisa G Shaffer; Mindy P Dabell; Allan J Fisher; Justine Coppinger; Anne M Bandholz; Jay W Ellison; J Britt Ravnan; Beth S Torchia; Blake C Ballif; Jill A Rosenfeld
Journal:  Prenat Diagn       Date:  2012-08-02       Impact factor: 3.050
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  8 in total

1.  Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

Authors:  Malgorzata I Srebniak; Karin Em Diderich; Marieke Joosten; Lutgarde Cp Govaerts; Jeroen Knijnenburg; Femke At de Vries; Marjan Boter; Debora Lont; Maarten Fcm Knapen; Merel C de Wit; Attie Tji Go; Robert-Jan H Galjaard; Diane Van Opstal
Journal:  Eur J Hum Genet       Date:  2015-09-02       Impact factor: 4.246

2.  Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.

Authors:  Olav B Petersen; Eric Smith; Diane Van Opstal; Marike Polak; Maarten F C M Knapen; Karin E M Diderich; Caterina M Bilardo; Lidia R Arends; Ida Vogel; Malgorzata I Srebniak
Journal:  Acta Obstet Gynecol Scand       Date:  2020-05-12       Impact factor: 3.636

3.  Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.

Authors:  Xiaoqing Wu; Gang An; Xiaorui Xie; Linjuan Su; Meiying Cai; Xuemei Chen; Ying Li; Na Lin; Deqin He; Meiying Wang; Hailong Huang; Liangpu Xu
Journal:  J Clin Lab Anal       Date:  2019-11-24       Impact factor: 2.352

Review 4.  The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

Authors:  Sam Riedijk; Karin E M Diderich; Sanne L van der Steen; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Femke A T de Vries; Diane van Opstal; Aad Tibben; Robert-Jan H Galjaard
Journal:  J Clin Med       Date:  2014-07-03       Impact factor: 4.241

5.  The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.

Authors:  S L van der Steen; S R Riedijk; J Verhagen-Visser; L C P Govaerts; M I Srebniak; D Van Opstal; M Joosten; M F C M Knapen; A Tibben; K E M Diderich; R J H Galjaard
Journal:  J Genet Couns       Date:  2016-05-25       Impact factor: 2.537

6.  Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

Authors:  S L van der Steen; E M Bunnik; M G Polak; K E M Diderich; J Verhagen-Visser; L C P Govaerts; M Joosten; M F C M Knapen; A T J I Go; D Van Opstal; M I Srebniak; R J H Galjaard; A Tibben; S R Riedijk
Journal:  J Genet Couns       Date:  2017-07-04       Impact factor: 2.537

7.  Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies.

Authors:  L Beulen; B H W Faas; I Feenstra; J M G van Vugt; M N Bekker
Journal:  Ultrasound Obstet Gynecol       Date:  2017-06       Impact factor: 7.299

8.  Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes.

Authors:  Meiying Cai; Na Lin; Linjuan Su; Xiaoqing Wu; Xiaorui Xie; Ying Li; Yuan Lin; Liangpu Xu; Hailong Huang
Journal:  Sci Rep       Date:  2020-09-15       Impact factor: 4.379
  8 in total

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