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Margreet Ausems

Research Profile

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TOP 3
Nicky Dekker; Johan A Offerhaus; Rob B van der Luijt; Eleonora B L van Dorst; Marielle E van Gijn; Marc van Tuil; Margreet G E M Ausems
Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer.
Petra van Der Groep; Rob B van der Luijt; Paulus van Diest; Margreet G E M Ausems; Joost Bart; Elisabeth G E de Vries; Fred H Menko; Yvonne H C M Smolders; ELSKEN VAN DER WALL
HIF-1α overexpression in ductal carcinoma in situ of the breast in BRCA1 and BRCA2 mutation carriers.
Marijke R Wevers; Neil K Aaronson; Margreet G E M Ausems; Marijke D K Bolhaar; Daniela E E Hahn; Senno Verhoef; Eveline M A Bleiker
Breast cancer genetic counseling after diagnosis but before treatment: a pilot study on treatment consequences and psychological impact.

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2013: Nicky Dekker; Johan A Offerhaus; Rob B van der Luijt; Eleonora B L van Dorst; Marielle E van Gijn; Marc van Tuil; Margreet G E M Ausems
Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer.
Journal of genetic counseling 2013;22(3):345-57.
2013: Petra van Der Groep; Rob B van der Luijt; Paulus van Diest; Margreet G E M Ausems; Joost Bart; Elisabeth G E de Vries; Fred H Menko; Yvonne H C M Smolders; ELSKEN VAN DER WALL
HIF-1α overexpression in ductal carcinoma in situ of the breast in BRCA1 and BRCA2 mutation carriers.
PloS one 2013;8(2):e56055.
2012: Marijke R Wevers; Neil K Aaronson; Margreet G E M Ausems; Marijke D K Bolhaar; Daniela E E Hahn; Senno Verhoef; Eveline M A Bleiker
Breast cancer genetic counseling after diagnosis but before treatment: a pilot study on treatment consequences and psychological impact.
Patient education and counseling 2012;89(1):89-95.
2012: Irma Kluijt; Marjolijn J Ligtenberg; Carla Oliveira; John T M Plukker; Ester J M Siemerink; Rolf Sijmons; Joana Simões-Correia; Richard van Hillegersberg; J Han van Krieken; Theo A M van Os; Els van Riel; Margreet G E M Ausems; Annemieke Cats; Daphne de Jong; Evelien Dekker; Joana Figueiredo; Nicoline Hoogerbrugge
CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.
International journal of cancer. Journal international du cancer 2012;131(2):367-76.
2012: Akke Albada; Margreet G E M Ausems; Sandra van Dulmen; Jozien M Bensing
A pre-visit website with question prompt sheet for counselees facilitates communication in the first consultation for breast cancer genetic counseling: findings from a randomized controlled trial.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(5):535-42.
2012: Niki Ottenhof; Richard van Hillegersberg; Hans Morreau; Folkert H Morsink; G Johan A Offerhaus; Margreet G E M Ausems; Wendy W J De Leng; Roeland F de Wilde; Anya N Milne
Pancreatic ductal adenocarcinoma in hereditary diffuse gastric cancer. A case report.
Human pathology 2012;43(3):457-61.
2012: Akke Albada; Jozien M Bensing; Dick Lindhout; Sandra van Dulmen; Margreet G E M Ausems
A pre-visit tailored website enhances counselees' realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling.
Familial cancer 2012;11(1):85-95.
2012: Anouk Pijpe; Matti A Rookus; I Thierry-Chef; Christi J van Asperen; Flora E van Leeuwen; Nadine Andrieu; Margreet G E M Ausems; Elisabeth Cardis; Douglas F Easton; Rosalind A Eeles; D Gareth Evans; Jean-Pierre Fricker; Debra Frost; Marion Gauthier-Villars; David Goldgar; Michael Hauptmann; Ausrele Kesminiene; Christine Lasset; Peggy Manders; Hanne Meijers-Heijboer; Catherine Noguès; Joan Paterson; Susan Peock
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).
BMJ (Clinical research ed.) 2012;345():e5660.
2011: Akke Albada; Margreet G E M Ausems; Jozien M Bensing; Roel Otten; Sandra van Dulmen
Use and evaluation of an individually tailored website for counselees prior to breast cancer genetic counseling.
Journal of cancer education : the official journal of the American Association for Cancer Education 2011;26(4):670-81.
2011: Arwen H Pieterse; Peter Spreeuwenberg; Margreet G E M Ausems; Sandra van Dulmen
Longer-term influence of breast cancer genetic counseling on cognitions and distress: smaller benefits for affected versus unaffected women.
Patient education and counseling 2011;85(3):425-31.
2011: C R M Lammens; Eveline M A Bleiker; Senno Verhoef; Margreet G E M Ausems; D Majoor-Krakauer; Rolf Sijmons; F J Hes; E B Gómez-García; Theo A M van Os; L Spruijt; R B van der Luijt; A M W van den Ouweland; Mariëlle W G Ruijs; Chad Gundy; T Nagtegaal; Neil K Aaronson
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.
Psycho-oncology 2011;20(6):631-8.
2011: Peggy Manders; Anouk Pijpe; Maartje J Hooning; Irma Kluijt; Hans F A Vasen; Nicoline Hoogerbrugge; Christi J van Asperen; Hanne Meijers-Heijboer; Margreet G E M Ausems; Theo A van Os; Encarna B Gomez-Garcia; Richard M Brohet; Flora E van Leeuwen; Matti A Rookus
Body weight and risk of breast cancer in BRCA1/2 mutation carriers.
Breast cancer research and treatment 2011;126(1):193-202.
2011: Marijke R Wevers; Margreet G E M Ausems; Senno Verhoef; Eveline M A Bleiker; Daniela E E Hahn; Frans B L Hogervorst; Rob B van der Luijt; Heiddis B Valdimarsdottir; Richard van Hillegersberg; Emiel J T H Rutgers; Neil K Aaronson
Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial.
BMC cancer 2011;11():6.
2010: C R M Lammens; Eveline M A Bleiker; Neil K Aaronson; Anja Wagner; Rolf Sijmons; Margreet G E M Ausems; A H J T Vriends; Mariëlle W G Ruijs; Theo A M van Os; L Spruijt; E B Gómez García; Annemieke Cats; T Nagtegaal; Senno Verhoef
Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits.
Familial cancer 2010;9(4):647-54.
2010: Karijn P M Suijkerbuijk; ELSKEN VAN DER WALL; Helen Meijrink; Xiaojuan Pan; Inne H M Borel Rinkes; Margreet G E M Ausems; Paulus van Diest
Successful oxytocin-assisted nipple aspiration in women at increased risk for breast cancer.
Familial cancer 2010;9(3):321-5.
2010: Chantal R M Lammens; Neil K Aaronson; Anja Wagner; Rolf Sijmons; Margreet G E M Ausems; Annette H J T Vriends; Mariëlle W G Ruijs; Theo A M van Os; Liesbeth Spruijt; Encarna B Gómez García; Irma Kluijt; Tanja Nagtegaal; Senno Verhoef; Eveline M A Bleiker
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010;28(18):3008-14.
2010: Marielle W G Ruijs; Senno Verhoef; Matti A Rookus; Roelof Pruntel; Annemarie H Van Der Hout; Frans B L Hogervorst; Irma Kluijt; Rolf Sijmons; Cora M Aalfs; Anja Wagner; Margreet G E M Ausems; Nicoline Hoogerbrugge; Christi J van Asperen; Encarna B Gomez Garcia; Hanne Meijers-Heijboer; Leo P Ten Kate; Fred H Menko; Laura J van 't Veer
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
Journal of medical genetics 2010;47(6):421-8.
2010: Heleen van der Klift; Carli Tops; Elsa C Bik; Merel W Boogaard; Anne-Marijke Borgstein; Kerstin B M Hansson; Margreet G E M Ausems; Encarna Gomez Garcia; Andrew Green; Frederik J Hes; Louise Izatt; Liselotte P van Hest; Angel M Alonso; Annette H J T Vriends; Anja Wagner; Wendy A G van Zelst-Stams; Hans F A Vasen; Hans Morreau; Peter Devilee; Juul Wijnen
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Human mutation 2010;31(5):578-87.
2010: C R M Lammens; E M A Bleiker; Senno Verhoef; F J Hes; Margreet G E M Ausems; D Majoor-Krakauer; R H Sijmons; R B van der Luijt; Ans M W van den Ouweland; T A M Van Os; Nicoline Hoogerbrugge; E B Gómez García; Charlotte Dommering; Chad Gundy; N K Aaronson
Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress.
Clinical genetics 2010;77(5):483-91.
2010: E Van Riel; Carla C Wárlám-Rodenhuis; S Verhoef; E J T H Rutgers; Margreet G E M Ausems
BRCA testing of breast cancer patients: medical specialists' referral patterns, knowledge and attitudes to genetic testing.
European journal of cancer care 2010;19(3):369-76.
2010: Anouk Pijpe; Peggy Manders; Richard M Brohet; J Margriet Collée; Senno Verhoef; Hans F A Vasen; Nicoline Hoogerbrugge; Christi J van Asperen; Charlotte Dommering; Margreet G E M Ausems; Cora M Aalfs; Encarna B Gomez-Garcia; Laura J van't Veer; Flora E van Leeuwen; Matti A Rookus
Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers.
Breast cancer research and treatment 2010;120(1):235-44.
2010: Els van Riel; Margreet G E M Ausems; Frans B L Hogervorst; Irma Kluijt; Marielle E van Gijn; Jeanne van Echtelt; Karen Scheidel-Jacobse; Eric Fam Hennekam; Rein P Stulp; Yvonne J Vos; G Johan A Offerhaus; Fred H Menko; Johan Jp Gille
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.
Hereditary cancer in clinical practice 2010;8(1):7.
2009: Céline Huber; Bénédicte Oulès; Marta Bertoli; MOUNIA CHAMI; Mélanie Fradin; Yasemin Alanay; Lihadh I Al-Gazali; Margreet G E M Ausems; Pierre Bitoun; Denise P Cavalcanti; Alexander Krebs; Martine Le Merrer; Geert Mortier; Yousef Shafeghati; andrea superti-furga; Stephen P Robertson; Carine Le Goff; Andrea Onetti Muda; Patrizia Paterlini-Bréchot; Arnold Munnich; Valérie Cormier-Daire
Identification of CANT1 mutations in Desbuquois dysplasia.
American journal of human genetics 2009;85(5):706-10.
2009: Akke Albada; Margreet G E M Ausems; Jozien M Bensing; Sandra van Dulmen
Tailored information about cancer risk and screening: a systematic review.
Patient education and counseling 2009;77(2):155-71.
2009: Kathryn J Schlich-Bakker; Herman F J ten Kroode; Carla C Wárlám-Rodenhuis; Margreet G E M Ausems; Jan van den Bout
Distress in couples approached for genetic counseling and BRCA1/2 testing during adjuvant radiotherapy.
Psycho-oncology 2009;18(9):965-73.
2009: Akke Albada; Sandra van Dulmen; Roel Otten; Jozien M Bensing; Margreet G E M Ausems
Development of E-info gene(ca): a website providing computer-tailored information and question prompt prior to breast cancer genetic counseling.
Journal of genetic counseling 2009;18(4):326-38.
2009: Antonis C Antoniou; Matti Rookus; Nadine Andrieu; Richard Brohet; Jenny Chang-Claude; Susan Peock; Margaret Cook; D Gareth Evans; Rosalind Eeles; Catherine Nogues; Laurence Faivre; Paul Gesta; Flora E van Leeuwen; Margreet G E M Ausems; Ana Osorio; Trinidad Caldes; Jacques Simard; Jan Lubinski; Anne-Marie Gerdes; Edith Olah; Christine Fürhauser; Hakan Olsson; Brita Arver; Paolo Radice; Douglas F Easton; David E Goldgar
Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009;18(2):601-10.
2009: Leila Mohammadi; Maaike P Vreeswijk; Rogier Oldenburg; Ans van den Ouweland; Jan C Oosterwijk; Annemarie H Van Der Hout; Nicoline Hoogerbrugge; M J L Ligtenberg; Margreet G E M Ausems; Rob B van der Luijt; Charlotte J Dommering; Johan J Gille; Senno Verhoef; Frans B Hogervorst; Theo A M van Os; Encarna Gómez García; Marinus J Blok; Juul Wijnen; Quinta Helmer; Peter Devilee; Christi J van Asperen; Hans C van Houwelingen
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
BMC cancer 2009;9():211.
2009: Encarnación B Gómez García; Jan C Oosterwijk; Maarten Timmermans; Christi J van Asperen; Frans B L Hogervorst; Nicoline Hoogerbrugge; Rogier Oldenburg; Senno Verhoef; Charlotte J Dommering; Margreet G E M Ausems; Theo A M van Os; Annemarie H Van Der Hout; M J L Ligtenberg; Ans van den Ouweland; Rob B van der Luijt; Juul Wijnen; Jan J P Gille; Patrick J Lindsey; Peter Devilee; Marinus J Blok; Maaike P G Vreeswijk
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.
Breast cancer research : BCR 2009;11(1):R8.
2009: Juul Wijnen; Richard M Brohet; Ronald van Eijk; Shantie Jagmohan-Changur; Anneke Middeldorp; Carli Tops; Mario van Puijenbroek; Margreet G E M Ausems; Encarna Gómez García; Frederik J Hes; Nicoline Hoogerbrugge; Fred H Menko; Theo A M van Os; Rolf Sijmons; Senno Verhoef; Anja Wagner; Fokko M Nagengast; Jan H Kleibeuker; Peter Devilee; Hans Morreau; David Goldgar; Ian P M Tomlinson; richard Houlston; Tom van Wezel; H F A Vasen
Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.
Gastroenterology 2009;136(1):131-7.
2008: Kathryn J Schlich-Bakker; Margreet G E M Ausems; M E I Schipper; Herman F J ten Kroode; Carla C Wárlám-Rodenhuis; Jan van den Bout
BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy.
Breast cancer research and treatment 2008;109(3):507-14.
2007: Kathryn J Schlich-Bakker; Herman F J ten Kroode; Carla C Wárlám-Rodenhuis; Jan van den Bout; Margreet G E M Ausems
Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(11):766-77.
2007: Fred H Menko; M J L Ligtenberg; T Brouwer; D E E Hahn; Margreet G E M Ausems
[DNA-based diagnosis of hereditary tumour predisposition].
Nederlands tijdschrift voor geneeskunde 2007;151(5):295-8.
2007: Arwen H Pieterse; Alexandra M van Dulmen; Frits A Beemer; Jozien M Bensing; Margreet G E M Ausems
Cancer genetic counseling: communication and counselees' post-visit satisfaction, cognitions, anxiety, and needs fulfillment.
Journal of genetic counseling 2007;16(1):85-96.
2007: Marian A Kroos; Robert J Pomponio; M L C Hagemans; J L M Keulemans; M Phipps; M DeRiso; R E Palmer; Margreet G E M Ausems; N A M E Van der Beek; Otto P van Diggelen; D J J Halley; Ans T Van Der Ploeg; Arnold J J Reuser
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Neurology 2007;68(2):110-5.
2006: Arwen H Pieterse; Sandra van Dulmen; Sandra van Dijk; Jozien M Bensing; Margreet G E M Ausems
Risk communication in completed series of breast cancer genetic counseling visits.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(11):688-96.
2006: Kathryn J Schlich-Bakker; Carla C Wárlám-Rodenhuis; Jeanne van Echtelt; Jan van den Bout; Margreet G E M Ausems; Herman F J ten Kroode
Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer.
European journal of cancer (Oxford, England : 1990) 2006;42(16):2722-8.
2006: Annemarie H Van Der Hout; Ans M W van den Ouweland; Rob B van der Luijt; Hans J P Gille; Daniëlle Bodmer; Hennie T Brüggenwirth; Inge M Mulder; Pieter van der Vlies; Peter Elfferich; Maarten Huisman; Annelies M ten Berge; Joan Kromosoeto; Rumo P M Jansen; Patrick H A van Zon; Thyrsa Vriesman; Neeltje J W Arts; Majella Boutmy-de Lange; Jan C Oosterwijk; Hanne Meijers-Heijboer; Margreet G E M Ausems; Nicoline Hoogerbrugge; Senno Verhoef; D J J Halley; Yvonne J Vos; Frans B L Hogervorst; M J L Ligtenberg; Robert M W Hofstra
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
Human mutation 2006;27(7):654-66.
2006: Kathryn J Schlich-Bakker; Herman F J ten Kroode; Margreet G E M Ausems
A literature review of the psychological impact of genetic testing on breast cancer patients.
Patient education and counseling 2006;62(1):13-20.
2006: Klaske D Lichtenbelt; Richard J Sinke; Margreet G E M Ausems; Marian A Kroos; Arnold J J Reuser; John J H Wokke
Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease).
Experimental and molecular pathology 2006;80(3):308-9; author reply 310.
2006: Ellen M A Smets; Arwen H Pieterse; Cora M Aalfs; Margreet G E M Ausems; Alexandra M van Dulmen
The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument.
American journal of medical genetics. Part A 2006;140(8):843-50.
2006: Arwen H Pieterse; Alexandra M van Dulmen; Frits A Beemer; Margreet G E M Ausems; Jozien M Bensing
Tailoring communication in cancer genetic counseling through individual video-supported feedback: a controlled pretest-posttest design.
Patient education and counseling 2006;60(3):326-35.
2006: Yvonne M C Hendriks; Shantie Jagmohan-Changur; Heleen van der Klift; Hans Morreau; Marjo Van Puijenbroek; Carli Tops; Theo A M van Os; Anja Wagner; Margreet G E M Ausems; Encarna Gomez; Martijn H Breuning; Annette H J T Bröcker-Vriends; H F A Vasen; Juul Wijnen
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Gastroenterology 2006;130(2):312-22.
2005: Christi J van Asperen; Richard Brohet; E Johanna Meijers-Heijboer; Nicoline Hoogerbrugge; Senno Verhoef; H F A Vasen; Margreet G E M Ausems; Fred H Menko; E B Gomez Garcia; Jan G M Klijn; Frans B L Hogervorst; Johannes C van Houwelingen; Laura J van't Veer; Matti A Rookus; Flora E van Leeuwen
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.
Journal of medical genetics 2005;42(9):711-9.
2005: Maartje Nielsen; Patrick F Franken; T H C M Reinards; Janneke Weiss; Anja Wagner; Heleen van der Klift; S Kloosterman; J J Houwing-Duistermaat; Cora M Aalfs; Margreet G E M Ausems; Annette H J T Bröcker-Vriends; E B Gomez Garcia; Nicoline Hoogerbrugge; Fred H Menko; Rolf Sijmons; Senno Verhoef; Ernst J Kuipers; Hans Morreau; Martijn H Breuning; Carli Tops; Juul Wijnen; H F A Vasen; Riccardo Fodde; Frederik J Hes
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
Journal of medical genetics 2005;42(9):e54.
2005: Arwen H Pieterse; Margreet G E M Ausems; Alexandra M van Dulmen; Frits A Beemer; Jozien M Bensing
Initial cancer genetic counseling consultation: change in counselees' cognitions and anxiety, and association with addressing their needs and preferences.
American journal of medical genetics. Part A 2005;137(1):27-35.
2005: Carla C Wárlám-Rodenhuis; Veronica C M Koot; Rob B van der Luijt; H F A Vasen; Margreet G E M Ausems
A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.
European journal of cancer (Oxford, England : 1990) 2005;41(10):1409-15.
2005: Arwen H Pieterse; Alexandra M van Dulmen; Margreet G E M Ausems; Frits A Beemer; Jozien M Bensing
Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?
British journal of cancer 2005;92(9):1671-8.
2005: Arwen H Pieterse; Sandra van Dulmen; Margreet G E M Ausems; Angela Schoemaker; Frits A Beemer; Jozien Bensing
QUOTE-gene(ca): development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.
Psycho-oncology 2005;14(5):361-75.
2005: Hermine E Veenstra-Knol; Jan H Scheewe; Gerrit J van der Vlist; Menno E van Doorn; Margreet G E M Ausems
Early recognition of basal cell naevus syndrome.
European journal of pediatrics 2005;164(3):126-30.
2004: Andrea E De Jong; Marjo Van Puijenbroek; Yvonne M C Hendriks; Carli Tops; Juul Wijnen; Margreet G E M Ausems; Hanne Meijers-Heijboer; Anja Wagner; Theo A M van Os; Annette H J T Bröcker-Vriends; H F A Vasen; Hans Morreau
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2004;10(3):972-80.
2004: Margreet G E M Ausems; J Schuil; C Van Raveswaaij-Arts; Joke de Pater
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
Genetic counseling (Geneva, Switzerland) 2004;15(4):405-10.
2003: Laurence Faivre; Martine Le Merrer; Lihadh Al-Gazali; Margreet G E M Ausems; P Bitoun; Delphine Bacq; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
Journal of medical genetics 2003;40(4):282-4.
2003: Joke de Pater; J M J C Scheres; G C M L Christiaens; Margreet G E M Ausems
Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12).
Prenatal diagnosis 2003;23(1):65-7.
2002: Tjitske Kleefstra; Helger G Yntema; Astrid R Oudakker; Bert B A de Vries; Hans van Bokhoven; Ben C J Hamel; Francis A M Poppelaars; Margreet G E M Ausems
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.
American journal of medical genetics 2002;110(4):410-1.
2002: Karin Sloots; Margreet G E M Ausems; Harm H de Haan
Ovarian cancer in BRCA-positive women: vigilance is mandatory despite screening programs.
European journal of obstetrics, gynecology, and reproductive biology 2002;101(2):196-8.
2001: Margreet G E M Ausems; J H Wokke; Arnold J J Reuser; Otto P van Diggelen
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Neurology 2001;57(10):1938.
2001: Bart P C van de Warrenburg; C W Frenken; Margreet G E M Ausems; Tjitske Kleefstra; Richard J Sinke; Nine V A M Knoers; H P H Kremer
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype.
Journal of neurology 2001;248(10):911-4.
2001: Margreet G E M Ausems; Klara ten Berg; Lodewijk A Sandkuijl; Marian A Kroos; Alfons F J Bardoel; K N Roumelioti; Arnold J J Reuser; Richard J Sinke; Cisca Wijmenga
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Journal of medical genetics 2001;38(8):527-9.
2001: Jacques C Giltay; Margreet G E M Ausems; I van Seumeren; Richard Zewald; Richard J Sinke; B Faas; Monique De Vroede
Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.
European journal of pediatrics 2001;160(3):154-8.
2001: Rob B van der Luijt; P H van Zon ; R P Jansen; C J M van der Sijs-Bos; Carla C Wárlám-Rodenhuis; Margreet G E M Ausems
De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer.
Journal of medical genetics 2001;38(2):102-5.
2000: Margreet G E M Ausems; Klara ten Berg; Frits A Beemer; J H J Wokke
Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families.
Neuromuscular disorders : NMD 2000;10(7):467-71.
1999: Margreet G E M Ausems; J Verbiest; M P Hermans; Marian A Kroos; Frits A Beemer; J H J Wokke; Lodewijk A Sandkuijl; Arnold J J Reuser; Ans T Van Der Ploeg
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
European journal of human genetics : EJHG 1999;7(6):713-6.
1999: M Kalff-Suske; A Wild; J Topp; M Wessling; E M Jacobsen; Dorothea Bornholdt; Hartmut Engel; H Heuer; Cora M Aalfs; Margreet G E M Ausems; R Barone; A Herzog; Peter Heutink; T Homfray; Gabriele Gillessen-Kaesbach; Rainer König; Jürgen Kunze; Peter Meinecke; D Müller; R Rizzo; S Strenge; andrea superti-furga; Karl-Heinz Grzeschik
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Human molecular genetics 1999;8(9):1769-77.
1999: Margreet G E M Ausems; P Lochman; Otto P van Diggelen; H K Ploos van Amstel; Arnold J J Reuser; J H Wokke
A diagnostic protocol for adult-onset glycogen storage disease type II.
Neurology 1999;52(4):851-3.
1999: I E Knol; Margreet G E M Ausems; Dick Lindhout; Otto P van Diggelen; H Verwey; J Davies; JK Ploos van Amstel; Bwee Tien Poll-The
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
American journal of medical genetics 1999;82(5):436-9.
1999: Margreet G E M Ausems; Klara ten Berg; Marian A Kroos; Otto P van Diggelen; R A Wevers; B J H M Poorthuis; Klary E Niezen-Koning; Ans T Van Der Ploeg; Frits A Beemer; Arnold J J Reuser; Lodewijk A Sandkuijl; J H J Wokke
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.
Community genetics 1999;2(2-3):91-6.
1997: Margreet G E M Ausems; E Bakker; R Berger; M Duran; Otto P van Diggelen; J L M Keulemans; H W de Valk; A L Kneppers; Lambertus Dorland; P F Eskes; Frits A Beemer; Bwee Tien Poll-The; Jan A M Smeitink
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
American journal of medical genetics 1997;68(2):236-9.
1996: Otto P van Diggelen; Jacek Zaremba; W He; J L M Keulemans; A M Boer; Arnold J J Reuser; Margreet G E M Ausems; Jan A M Smeitink; J Kowalczyk; Ewa Pronicka; D Rokicki; E Tarnowska-Dziduszko; A L Kneppers; E Bakker
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.
Clinical genetics 1996;50(5):310-6.
1996: Margreet G E M Ausems; D Wittebol-Post; Raoul Hennekam
Cleft lip and cone-rod dystrophy in a consanguineous sibship.
Clinical dysmorphology 1996;5(4):307-11.
1996: Margreet G E M Ausems; Marian A Kroos; M Van der Kraan; Jan A M Smeitink; Wim J Kleijer; H K Ploos van Amstel; Arnold J J Reuser
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Clinical genetics 1996;49(6):325-8.
1996: Margreet G E M Ausems; H G Van Spijker; H J Dijkhuis; H F Swanenburg De Veye; J B Bijlsma
Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
Genetic counseling (Geneva, Switzerland) 1996;7(1):61-5.
1995: Marian A Kroos; M Van der Kraan; Otto P van Diggelen; Wim J Kleijer; Arnold J J Reuser; M J Van den Boogaard; Margreet G E M Ausems; H K Ploos van Amstel; Livia Poenaru; Marc Nicolino
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Journal of medical genetics 1995;32(10):836-7.
1995: J H J Wokke; Margreet G E M Ausems; M J van den Boogaard; E F Ippel; O van Diggelene; Marian A Kroos; M Boer; F G Jennekens; Arnold J J Reuser; H K Ploos van Amstel
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
Annals of neurology 1995;38(3):450-4.
1994: Margreet G E M Ausems; S L Bhola; C A Post-Blok; Raoul Hennekam; H F de France
18q- and 18q+ mosaicism in a mentally retarded boy.
American journal of medical genetics 1994;53(3):296-9.
1994: Margreet G E M Ausems; PF Ippel; P A Renardel de Lavalette
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature.
Clinical dysmorphology 1994;3(1):21-30.