Search Results - "Sikkema-Raddatz B"

Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.

Authors: Graaf, G. Engelen, J. J. M. Gijsbers, A. C. J. et al.

Source: Journal of Intellectual Disability Research. May2017, Vol. 61 Issue 5, p461-470. 10p. 1 Chart, 1 Graph.

Subjects: Down syndrome, Childbirth, Juvenile diseases, Disease prevalence, Maternal age, Pregnancy, Children, History

Geographic Terms: Netherlands

3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients.

Authors: Dimitrov, B. I. Ogilvie, C. Wieczorek, D. et al.

Source: American Journal of Medical Genetics. Part A; Jun2015, Vol. 167A Issue 6, p1223-1230, 8p

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing.

Authors: Baardman, R. Lemmink, H. H. Yenamandra, V. K. et al.

Source: Journal of the European Academy of Dermatology & Venereology. Jan2025, Vol. 39 Issue 1, p154-160. 7p.

Chromosomal mosaicism in human preimplantation embryos: a systematic review.

Authors: van Echten-Arends J Mastenbroek S Sikkema-Raddatz B et al.

Source: Human Reproduction Update. Sep2011, Vol. 17 Issue 5, p620-627. 8p.

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter).

Authors: Rump, P. Dijkhuizen, T. Sikkema-Raddatz, B. et al.

Source: Clinical Genetics. Nov2008, Vol. 74 Issue 5, p455-462. 8p. 3 Black and White Photographs, 1 Diagram, 1 Chart, 1 Graph.

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Authors: Bijlsma, E.K. Gijsbers, A.C.J. Schuurs-Hoeijmakers, J.H.M. et al.

Source: European Journal of Medical Genetics. Mar2009, Vol. 52 Issue 2/3, p77-87. 11p.

In vitro fertilization with preimplantation genetic screening.

Authors: Mastenbroek S Twisk M van Echten-Arends J et al.

Source: New England Journal of Medicine. 7/5/2007, Vol. 357 Issue 1, p9-103. 10p.

URL: 25596926

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Authors: Veldman A Arar CE Kiewiet MBG et al.

Source: Metabolomics : Official journal of the Metabolomic Society [Metabolomics] 2026 Jun 25; Vol. 22 (4). Date of Electronic Publication: 2026 Jun 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101274889 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-3890 (Electronic) Linking ISSN: 15733882 NLM ISO Abbreviation: Metabolomics Subsets: MEDLINE

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Authors: de Boer EN Scheper AJ Hendriksen D et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Mar 21; Vol. 26 (7). Date of Electronic Publication: 2025 Mar 21.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Authors: Veldman A Sikkema-Raddatz B Derks TGJ et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Dec 28; Vol. 11 (1). Date of Electronic Publication: 2024 Dec 28.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Authors: Ghorbani F Alimohamed MZ Vilacha JF et al.

Source: Frontiers in genetics [Front Genet] 2022 Mar 25; Vol. 13, pp. 782685. Date of Electronic Publication: 2022 Mar 25 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Authors: Alimohamed MZ Westers H Vos YJ et al.

Source: Frontiers in genetics [Front Genet] 2022 Mar 01; Vol. 13, pp. 824510. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

Authors: de Groot-van der Mooren M de Graaf G Weijerman ME et al.

Source: Prenatal diagnosis [Prenat Diagn] 2021 Sep; Vol. 41 (10), pp. 1351-1359. Date of Electronic Publication: 2021 Jul 01.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Authors: de Boer EN Vroom V Scheper AJ et al.

Source: Scientific reports [Sci Rep] 2024 Apr 12; Vol. 14 (1), pp. 8508. Date of Electronic Publication: 2024 Apr 12.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Authors: Kiewiet G Westra D de Boer EN et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Mar 07; Vol. 10 (1). Date of Electronic Publication: 2024 Mar 07.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.

Authors: de Lange K de Boer EN Bosga A et al.

Source: Clinical chemistry [Clin Chem] 2020 Dec 01; Vol. 66 (12), pp. 1521-1530.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Authors: Corsten-Janssen N Bouman K Diphoorn JCD et al.

Source: Prenatal diagnosis [Prenat Diagn] 2020 Sep; Vol. 40 (10), pp. 1300-1309. Date of Electronic Publication: 2020 Jul 20.

Publication Type: Evaluation Study; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.

Authors: de Boer EN Johansson LF de Lange K et al.

Source: Clinical chemistry [Clin Chem] 2020 Aug 01; Vol. 66 (8), pp. 1084-1092.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Authors: Ghorbani F de Boer EN Benjamins-Stok M et al.

Source: Neurology. Genetics [Neurol Genet] 2023 Feb 02; Vol. 9 (1), pp. e200050. Date of Electronic Publication: 2023 Feb 02 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.

Authors: Deelen P van Dam S Herkert JC et al.

Source: Nature communications [Nat Commun] 2019 Jun 28; Vol. 10 (1), pp. 2837. Date of Electronic Publication: 2019 Jun 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun