34 results on '"Brüggenwirth, Hennie T."'
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2. Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation
3. Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)
4. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
5. Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins
6. Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
7. Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis
8. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
9. Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature
10. Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
11. How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
12. The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature
13. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
14. Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity
15. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
16. Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated WithBAP1Mutations
17. First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm
18. Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories
19. A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
20. Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma
21. The role of DNA dependent protein kinase in synapsis of DNA ends
22. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
23. Deletion of Exons 1a–2 of BRCA1: A Rather Frequent Pathogenic Abnormality
24. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
25. Increased expression of p73Δex2 transcript in uveal melanoma with loss of chromosome 1p
26. Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8
27. Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4
28. Familial gigantism caused by anNSD1 mutation
29. The RAS-BRAF kinase pathway is not involved in uveal melanoma
30. Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells
31. Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome
32. Clinical and Molecular Spectrum of Somatic Mosaicism in Androgen Insensitivity Syndrome
33. Substitution of Ala564 in the First Zinc Cluster of the Deoxyribonucleic Acid (DNA)-Binding Domain of the Androgen Receptor by Asp, Asn, or Leu Exerts Differential Effects on DNA Binding*
34. Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1
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