| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant transcription caused by an intronic non-canonical CDH1 variant
|
Bouras, Ahmed
|
|
|
23 |
4 |
p. 671-673
|
artikel
|
| 2 |
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
|
Esperon, Patricia
|
|
|
23 |
4 |
p. 507-513
|
artikel
|
| 3 |
A content analysis of parents’ reflections on pathogenic and uncertain pediatric oncology germline sequencing results
|
Howard Sharp, Katianne M.
|
|
|
23 |
4 |
p. 551-561
|
artikel
|
| 4 |
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis
|
Mouren, Adrien
|
|
|
23 |
4 |
p. 627-634
|
artikel
|
| 5 |
A dual biomarker in non-small cell lung cancer that predicts Li Fraumeni syndrome
|
Sorscher, Steven
|
|
|
23 |
4 |
p. 469-471
|
artikel
|
| 6 |
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions
|
Shabet, Christina
|
|
|
23 |
4 |
p. 543-550
|
artikel
|
| 7 |
Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer
|
Suspitsin, Evgeny
|
|
|
23 |
4 |
p. 659-664
|
artikel
|
| 8 |
Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia
|
Enache, Aura
|
|
|
23 |
4 |
p. 583-590
|
artikel
|
| 9 |
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
|
Arnon, Johnathan
|
|
|
23 |
4 |
p. 531-542
|
artikel
|
| 10 |
Clinical features of prostate cancer by polygenic risk score
|
Spears, Christina
|
|
|
23 |
4 |
p. 499-505
|
artikel
|
| 11 |
Colonoscopic surveillance in Lynch syndrome: guidelines in perspective
|
Castillo-Iturra, Joaquín
|
|
|
23 |
4 |
p. 459-468
|
artikel
|
| 12 |
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up
|
Frank, Alexander
|
|
|
23 |
4 |
p. 599-605
|
artikel
|
| 13 |
Correction: Clinician perspectives on policy approaches to genetic risk disclosure in families
|
Phillips, Amicia
|
|
|
23 |
4 |
p. 703
|
artikel
|
| 14 |
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort
|
Sipilä, Lauri J.
|
|
|
23 |
4 |
p. 647-652
|
artikel
|
| 15 |
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery
|
Youngs, Alice
|
|
|
23 |
4 |
p. 591-598
|
artikel
|
| 16 |
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up
|
Karstensen, JG
|
|
|
23 |
4 |
p. 607-615
|
artikel
|
| 17 |
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1
|
Mejia Perez, Lady Katherine
|
|
|
23 |
4 |
p. 617-626
|
artikel
|
| 18 |
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
|
Kanth, Priyanka
|
|
|
23 |
4 |
p. 479-489
|
artikel
|
| 19 |
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome
|
Freycon, Claire
|
|
|
23 |
4 |
p. 665-669
|
artikel
|
| 20 |
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients
|
Biermann, Sabine
|
|
|
23 |
4 |
p. 473-478
|
artikel
|
| 21 |
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study
|
Mawet, Marie
|
|
|
23 |
4 |
p. 523-529
|
artikel
|
| 22 |
In Memoriam: Steffen Bülow (1943–2023)
|
Vasen, Hans F. A.
|
|
|
23 |
4 |
p. 407
|
artikel
|
| 23 |
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report
|
van Riel, L.
|
|
|
23 |
4 |
p. 579-582
|
artikel
|
| 24 |
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients
|
Segura, Anthony Vladimir Campos
|
|
|
23 |
4 |
p. 653-657
|
artikel
|
| 25 |
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence
|
Shia, Jinru
|
|
|
23 |
4 |
p. 569-577
|
artikel
|
| 26 |
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia
|
Virijevic, M.
|
|
|
23 |
4 |
p. 635-639
|
artikel
|
| 27 |
Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow
|
Witjes, Vera M.
|
|
|
23 |
4 |
p. 429-436
|
artikel
|
| 28 |
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women
|
Trivedi, Meghna S.
|
|
|
23 |
4 |
p. 491-498
|
artikel
|
| 29 |
Progress report: Peutz–Jeghers syndrome
|
Jelsig, Anne Marie
|
|
|
23 |
4 |
p. 409-417
|
artikel
|
| 30 |
Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022
|
Guerrini-Rousseau, Léa
|
|
|
23 |
4 |
p. 447-457
|
artikel
|
| 31 |
Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy
|
Gootzen, TA
|
|
|
23 |
4 |
p. 437-445
|
artikel
|
| 32 |
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome
|
Yilmaz, Mustafa
|
|
|
23 |
4 |
p. 641-645
|
artikel
|
| 33 |
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family
|
Abdelmaksoud-Dammak, Rania
|
|
|
23 |
4 |
p. 515-522
|
artikel
|
| 34 |
The 17th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC)
|
|
|
|
23 |
4 |
p. 675-702
|
artikel
|
| 35 |
Understanding familial risk of pancreatic ductal adenocarcinoma
|
Paranal, Raymond M.
|
|
|
23 |
4 |
p. 419-428
|
artikel
|
| 36 |
Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country
|
Bissmeyer, Monica A.
|
|
|
23 |
4 |
p. 563-567
|
artikel
|
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