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C J Dommering

Explore the profile of C J Dommering including associated specialties, affiliations and a list of published articles. Areas
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Articles 8
Citations 116
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Recent Articles
1.
Schoenaker M, Takada S, van Deuren M, Dommering C, Henriet S, Pico I, et al.
Eur J Med Genet . 2021 Aug; 64(10):104293. PMID: 34352413
Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and a strong predisposition to different types...
2.
Kelmemi W, Teeuw M, Bochdanovits Z, Ouburg S, Jonker M, Alkuraya F, et al.
BMC Med Genet . 2015 Jul; 16:50. PMID: 26188928
Background: Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according...
3.
Dommering C, Garvelink M, Moll A, van Dijk J, Imhof S, Meijers-Heijboer H, et al.
Clin Genet . 2011 Sep; 81(3):216-23. PMID: 21954974
To investigate reproductive behavior of individuals at increased risk of having a child with retinoblastoma (Rb), we conducted a cross-sectional questionnaire survey among 118 counselees visiting the Clinical Genetics Department...
4.
Dommering C, van den Heuvel M, Moll A, Imhof S, Meijers-Heijboer H, Henneman L
Clin Genet . 2010 Jul; 78(4):334-41. PMID: 20618349
Little is known about the reproductive decision-making process of couples with an increased risk of having a child with retinoblastoma (Rb). A qualitative study was conducted to explore the impact...
5.
Lammens C, Bleiker E, Verhoef S, Hes F, Ausems M, Majoor-Krakauer D, et al.
Clin Genet . 2010 Feb; 77(5):483-91. PMID: 20184621
Von Hippel-Lindau disease (VHL) is a hereditary tumor susceptibility syndrome, characterized by an increased risk of developing multiple benign and malignant tumors at various sites and ages with limited preventive...
6.
Marees T, Dommering C, Imhof S, Kors W, Ringens P, van Leeuwen F, et al.
Hum Reprod . 2009 Sep; 24(12):3220-4. PMID: 19783550
Background: In 2003, we reported an increased risk of retinoblastoma in children conceived by IVF between 1995 and 2002. However, population-based studies among children conceived by IVF did not find...
7.
Nielsen M, Poley J, Verhoef S, van Puijenbroek M, Weiss M, Burger G, et al.
J Clin Pathol . 2006 Sep; 59(11):1212-5. PMID: 16943222
Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer. In addition, duodenal adenomas and other extra-colonic manifestations have been described...
8.
Gille J, Hogervorst F, Pals G, Wijnen J, van Schooten R, Dommering C, et al.
Br J Cancer . 2002 Oct; 87(8):892-7. PMID: 12373605
Hereditary non-polyposis colorectal cancer is an autosomal dominant condition due to germline mutations in DNA-mismatch-repair genes, in particular MLH1, MSH2 and MSH6. Here we describe the application of a novel...