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Martinus Niermeijer

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Wybo J Dondorp; Guido M W R de Wert; Martinus F Niermeijer
Genomic sequencing in newborn screening programs.
Femi Janse; Erik A H Knauff; Martinus F Niermeijer; Marinus Eijkemans; Joop S E Laven; Cornelis B Lambalk; Bart CJM Fauser; Angelique J Goverde
Similar phenotype characteristics comparing familial and sporadic premature ovarian failure.
Marlies J Valstar; Aida M Bertoli Avella; Marja W Wessels; George J G Ruijter; Bianca de Graaf; Renske Olmer; Peter Elfferich; Sanne Neijs; Roxana Kariminejad; Fatih Suheyl Ezgü; Aysegul Tokatli; Barbara Czartoryska; Ad N Bosschaart; Feikje van den Bos-Terpstra; Hugues Puissant; Friederike Bürger; Heymut Omran; D Eckert; Mirella Filocamo; Emil Simeonov; Patrick J Willems; Ron A Wevers; Martinus F Niermeijer; D J J Halley; B J H M Poorthuis; Otto P van Diggelen
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

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All Publications

2012: Wybo J Dondorp; Guido M W R de Wert; Martinus F Niermeijer
Genomic sequencing in newborn screening programs.
JAMA : the journal of the American Medical Association 2012;307(20):2146; author reply 2147.
2010: Femi Janse; Erik A H Knauff; Martinus F Niermeijer; Marinus Eijkemans; Joop S E Laven; Cornelis B Lambalk; Bart CJM Fauser; Angelique J Goverde
Similar phenotype characteristics comparing familial and sporadic premature ovarian failure.
Menopause (New York, N.Y.) 2010;17(4):758-65.
2010: Marlies J Valstar; Aida M Bertoli Avella; Marja W Wessels; George J G Ruijter; Bianca de Graaf; Renske Olmer; Peter Elfferich; Sanne Neijs; Roxana Kariminejad; Fatih Suheyl Ezgü; Aysegul Tokatli; Barbara Czartoryska; Ad N Bosschaart; Feikje van den Bos-Terpstra; Hugues Puissant; Friederike Bürger; Heymut Omran; D Eckert; Mirella Filocamo; Emil Simeonov; Patrick J Willems; Ron A Wevers; Martinus F Niermeijer; D J J Halley; B J H M Poorthuis; Otto P van Diggelen
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Human mutation 2010;31(5):E1348-60.
2008: Martinus F Niermeijer; C E M de Die-Smulders; G C M L Page-Christiaens; G M W R De Wert
[Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis].
Nederlands tijdschrift voor geneeskunde 2008;152(27):1503-6.
2008: Marja W Wessels; Bianca de Graaf; Titia E Cohen-Overbeek; Silja E Spitaels; Lotte E de Groot-de Laat; Folkert J Ten Cate; Ingrid F M Frohn-Mulder; Ronald R de Krijger; Margot M Bartelings; Nienke Essed; Jury W Wladimiroff; Martinus F Niermeijer; Peter Heutink; Ben A Oostra; Dennis Dooijes; Aida M Bertoli Avella; Patrick J Willems
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Human genetics 2008;122(6):595-603.
2007: P J C Bresser; Arthur R Van Gool; Caroline Seynaeve; Hugo J Duivenvoorden; Martinus F Niermeijer; Albertus N van Geel; M Menke; Jan G M Klijn; Aad Tibben
Who is prone to high levels of distress after prophylactic mastectomy and/or salpingo-ovariectomy?
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2007;18(10):1641-5.
2007: P J C Bresser; Caroline Seynaeve; Arthur R Van Gool; Martinus F Niermeijer; Hugo J Duivenvoorden; Silvia van Dooren; Albertus N van Geel; M B E Menke-Pluijmers; Jan G M Klijn; Aad Tibben
The course of distress in women at increased risk of breast and ovarian cancer due to an (identified) genetic susceptibility who opt for prophylactic mastectomy and/or salpingo-oophorectomy.
European journal of cancer (Oxford, England : 1990) 2007;43(1):95-103.
2006: Martinus F Niermeijer; Guido de Wert; Wybo Dondorp
Preimplantation genetic diagnosis for cancer.
The lancet oncology 2006;7(10):794-5.
2006: Nicoline Hoogerbrugge; Peter Bult; J J Han Bonenkamp; M J L Ligtenberg; Lambertus A L M Kiemeney; Joanne A de Hullu; Carla Boetes; Martinus F Niermeijer; Han G Brunner
Numerous high-risk epithelial lesions in familial breast cancer.
European journal of cancer (Oxford, England : 1990) 2006;42(15):2492-8.
2006: Samantha R Riedijk; Marjolein E de Vugt; Hugo J Duivenvoorden; Martinus F Niermeijer; John C van Swieten; Frans Verhey; Aad Tibben
Caregiver burden, health-related quality of life and coping in dementia caregivers: a comparison of frontotemporal dementia and Alzheimer's disease.
Dementia and geriatric cognitive disorders 2006;22(5-6):405-12.
2006: Lambertus A L M Kiemeney; Roland P Kuiper; Rolph Pfundt; Simon van Reijmersdal; Mark P Schoenberg; Katja K H Aben; Martinus F Niermeijer; J Alfred Witjes; Eric F P M Schoenmakers
No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006;15(1):180-3.
2005: Mieke M van Haelst; Jeannette Hoogeboom; Geneviève Baujat; Hennie T Brüggenwirth; Ingrid Van de Laar; Kim Coleman; Nazneen Rahman; Martinus F Niermeijer; Stenvert L S Drop; Peter J Scambler
Familial gigantism caused by an NSD1 mutation.
American journal of medical genetics. Part A 2005;139(1):40-4.
2005: Marja W Wessels; Rolf M F Berger; Ingrid M E Frohn-Mulder; Jolien Roos-Hesselink; Jeannette Hoogeboom; Grazia S Mancini; Margot M Bartelings; Ronald de Krijger; Jury W Wladimiroff; Martinus F Niermeijer; Paul Grossfeld; Patrick J Willems
Autosomal dominant inheritance of left ventricular outflow tract obstruction.
American journal of medical genetics. Part A 2005;134A(2):171-9.
2004: Marja W Wessels; Coriene E Catsman-Berrevoets; Grazia M S Mancini; Martijn H Breuning; Jeannette Hoogeboom; Hans Stroink; Ingrid M E Frohn-Mulder; Paul J Coucke; Anne De Paepe; Martinus F Niermeijer; Patrick J Willems
Three new families with arterial tortuosity syndrome.
American journal of medical genetics. Part A 2004;131(2):134-43.
2004: J H F M de Bruin; Fokko M Nagengast; M J L Ligtenberg; J H J M van Krieken; Martinus F Niermeijer; Nicoline Hoogerbrugge
[Recognising hereditary non-polyposis colorectal cancer without a clear family history].
Nederlands tijdschrift voor geneeskunde 2004;148(42):2053-7.
2004: Carolien M Kets; Martinus F Niermeijer; L F A G Massuger; Nicoline Hoogerbrugge
[In cases of familial ovarian cancer, always consider the risk of breast cancer].
Nederlands tijdschrift voor geneeskunde 2004;148(35):1709-11.
2004: Caroline Seynaeve; Leon C Verhoog; L M C van de Bosch; Albertus N van Geel; Marian Menke-Pluymers; E Johanna Meijers-Heijboer; Ans M W van den Ouweland; Anja Wagner; Carien L Creutzberg; Martinus F Niermeijer; Jan G M Klijn; Cecile T M Brekelmans
Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy.
European journal of cancer (Oxford, England : 1990) 2004;40(8):1150-8.
2004: J C Mourik; Sonia M Rosso; Martinus F Niermeijer; Hugo J Duivenvoorden; John C van Swieten; Aad Tibben
Frontotemporal dementia: behavioral symptoms and caregiver distress.
Dementia and geriatric cognitive disorders 2004;18(3-4):299-306.
2003: Sonia M Rosso; Laura Donker Kaat; Timo Baks; Marijke Joosse; Inge de Koning; Y A L Pijnenburg; Danielle De Jong; Dennis Dooijes; Wouter Kamphorst; Rivka Ravid; Martinus F Niermeijer; Frans Verheij; H P H Kremer; Philip scheltens; C.M. Duijn; Peter Heutink; John C van Swieten
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.
Brain : a journal of neurology 2003;126(Pt 9):2016-22.
2003: Litanja N Lodder; Petra G Frets; Rutger W Trijsburg; Jan G M Klijn; Caroline Seynaeve; Madeleine M A Tilanus; C C M Bartels; E Johanna Meijers-Heijboer; Leon C Verhoog; Martinus F Niermeijer
Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing.
American journal of medical genetics. Part A 2003;119A(3):266-72.
2003: Marja W Wessels; Frans J Los; Ingrid M E Frohn-Mulder; Martinus F Niermeijer; Patrick J Willems; Jury W Wladimiroff
Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation.
American journal of medical genetics. Part A 2003;116A(2):147-51.
2002: Marja W Wessels; Nicolette S den Hollander; Titia E Cohen-Overbeek; M S Lesnik Oberstein; R M Nash; Juriy W Wladimiroff; Martinus F Niermeijer; Patrick J Willems
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.
American journal of medical genetics 2002;113(1):97-100.
2002: Anja Wagner; Carli Tops; Juul Wijnen; K Zwinderman; Conny A van der Meer; M Kets; Martinus F Niermeijer; Jan G M Klijn; Aad Tibben; H F A Vasen; Hanne Meijers-Heijboer
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation.
Journal of medical genetics 2002;39(11):833-7.
2002: Bert B A de Vries; Guido J Breedveld; Wout Deelen; Martijn H Breuning; Martinus F Niermeijer; Peter Heutink
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.
American journal of medical genetics 2002;111(4):443-5.
2002: Christi J van Asperen; Sandra van Dijk; Moniek W Zoeteweij; Danielle R M Timmermans; Geertruida H de Bock; E Johanna Meijers-Heijboer; Martinus F Niermeijer; Martijn H Breuning; Job Kievit; Wilma Otten
What do women really want to know? Motives for attending familial breast cancer clinics.
Journal of medical genetics 2002;39(6):410-4.
2002: Nicolette S den Hollander; Marja W Wessels; Martinus F Niermeijer; Frans J Los; Juriy W Wladimiroff
Early fetal anomaly scanning in a population at increased risk of abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2002;19(6):570-4.
2002: Litanja N Lodder; Petra G Frets; Rutger W Trijsburg; E Johanna Meijers-Heijboer; Jan G M Klijn; Caroline Seynaeve; Albertus N van Geel; Madeleine M A Tilanus; C C M Bartels; Leon C Verhoog; Cecile T M Brekelmans; Curt W Burger; Martinus F Niermeijer
One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery).
Breast cancer research and treatment 2002;73(2):97-112.
2002: Marja W Wessels; Alice S Brooks; Jeannette Hoogeboom; Martinus F Niermeijer; Patrick J Willems
Kabuki syndrome: a review study of three hundred patients.
Clinical dysmorphology 2002;11(2):95-102.
2002: Sonia M Rosso; Esther van Herpen; Wout Deelen; Wouter Kamphorst; Lies-Anne Severijnen; Rob Willemsen; Rivka Ravid; Martinus F Niermeijer; Dennis Dooijes; Michael J Smith; Michel Goedert; Peter Heutink; John C van Swieten
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
Annals of neurology 2002;51(3):373-6.
2001: M Duisterhof; Rutger W Trijsburg; Martinus F Niermeijer; Raymund A C Roos; Aad Tibben
Psychological studies in Huntington's disease: making up the balance.
Journal of medical genetics 2001;38(12):852-61.
2001: Annemie L M Boehmer; Albert O Brinkmann; Martinus F Niermeijer; D J J Halley; Stenvert L S Drop
[From gene to disease; androgen receptor gene, androgen insensitivity syndrome, and spinal and bulbar muscle atrophy].
Nederlands tijdschrift voor geneeskunde 2001;145(48):2326-8.
2001: Mieke M van Haelst; Jeannette Hoogeboom; R J H Galjaard; Wim J Kleijer; Nicolette S den Hollander; Ronald R de Krijger; Raoul Hennekam; Martinus F Niermeijer
Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome.
American journal of medical genetics 2001;104(1):65-8.
2001: Leon C Verhoog; Ans M W van den Ouweland; Petronella Berns; M M van Veghel-Plandsoen; Iris L van Staveren; A Wagner; C C M Bartels; Madeleine M A Tilanus-Linthorst; Peter Devilee; Caroline Seynaeve; D J Halley; Martinus F Niermeijer; Jan G M Klijn; Hanne Meijers-Heijboer
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.
European journal of cancer (Oxford, England : 1990) 2001;37(16):2082-90.
2001: Nicolette S den Hollander; S G Robben; A J Hoogeboom; Martinus F Niermeijer; Juriy W Wladimiroff
Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2001;18(4):378-83.
2001: Sonia M Rosso; Wouter Kamphorst; Bianca de Graaf; Rob Willemsen; Rivka Ravid; Martinus F Niermeijer; Maria Grazia Spillantini; Peter Heutink; John C van Swieten
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
Brain : a journal of neurology 2001;124(Pt 10):1948-57.
2001: A de Goede-Bolder; MH Cnossen; Dennis Dooijes; Ans M W van den Ouweland; Martinus F Niermeijer
[From gene to disease; neurofibromatosis type 1].
Nederlands tijdschrift voor geneeskunde 2001;145(36):1736-8.
2001: Annemie L M Boehmer; O Brinkmann; Hennie T Brüggenwirth; C van Assendelft; Barto J Otten; MC Verleun-Mooijman; Martinus F Niermeijer; Han G Brunner; Catrienus W Rouwé; J J J Waelkens; Wilma Oostdijk; W J Kleijer; Theo Van der Kwast; M A de Vroede; Stenvert L S Drop
Genotype versus phenotype in families with androgen insensitivity syndrome.
The Journal of clinical endocrinology and metabolism 2001;86(9):4151-60.
2001: Hanne Meijers-Heijboer; Bert N van Geel; Wim L J van Putten; SC Henzen-Logmans; Caroline Seynaeve; Marian Menke-Pluymers; C C M Bartels; Leon C Verhoog; Ans M W van den Ouweland; Martinus F Niermeijer; Cecile T M Brekelmans; Jan G M Klijn
Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.
The New England journal of medicine 2001;345(3):159-64.
2001: Litanja N Lodder; Petra G Frets; Rutger W Trijsburg; Aad Tibben; E Johanna Meijers-Heijboer; Hugo J Duivenvoorden; Anja Wagner; Conny A van der Meer; Peter Devilee; Cees J Cornelisse; Martinus F Niermeijer
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.
European journal of human genetics : EJHG 2001;9(7):492-500.
2001: Nicolette S den Hollander; A J Hoogeboom; Martinus F Niermeijer; Juriy W Wladimiroff
Prenatal diagnosis of type A1 brachydactyly.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2001;17(6):529-30.
2001: Anja Wagner; Yvonne M C Hendriks; E Johanna Meijers-Heijboer; Wiljo J F De Leeuw; Hans Morreau; Robert M W Hofstra; Carli Tops; E Bik; Annette H J T Bröcker-Vriends; Conny A van der Meer; Dick Lindhout; H F A Vasen; Martijn H Breuning; Cees J Cornelisse; C van Krimpen; Martinus F Niermeijer; A H Zwinderman; Juul Wijnen; Riccardo Fodde
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.
Journal of medical genetics 2001;38(5):318-22.
2001: Stenvert L S Drop; Annemie L M Boehmer; Froukje M E Slijper; Rien J M Nijman; F W Hazebroek; Martinus F Niermeijer
[Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome].
Nederlands tijdschrift voor geneeskunde 2001;145(14):665-9.
2001: Annemie L M Boehmer; Rien J M Nijman; B A Lammers; S J de Coninck; JO van Hemel; A P Themmen; M A Mureau; Frank de Jong; Albert O Brinkmann; Martinus F Niermeijer; Stenvert L S Drop
Etiological studies of severe or familial hypospadias.
The Journal of urology 2001;165(4):1246-54.
2001: Annemie L M Boehmer; Albert O Brinkmann; Rien J M Nijman; MC Verleun-Mooijman; Petra E de Ruiter; Martinus F Niermeijer; Stenvert L S Drop
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
The Journal of clinical endocrinology and metabolism 2001;86(3):1240-6.
2001: Litanja N Lodder; Petra G Frets; Rutger W Trijsburg; E Johanna Meijers-Heijboer; Jan G M Klijn; Hugo J Duivenvoorden; Aad Tibben; Anja Wagner; Conny A van der Meer; Ans M W van den Ouweland; Martinus F Niermeijer
Psychological impact of receiving a BRCA1/BRCA2 test result.
American journal of medical genetics 2001;98(1):15-24.
2000: Litanja N Lodder; Petra G Frets; Rutger W Trijsburg; E Johanna Meijers-Heijboer; Jan G M Klijn; Martinus F Niermeijer
Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands.
Journal of medical genetics 2000;37(11):883-4.
2000: Gerwin Roks; Frans van Harskamp; Inge de Koning; Marc Cruts; Chris De Jonghe; Samir Kumar-Singh; A Tibben; Hervé L J Tanghe; Martinus F Niermeijer; Albert Hofman; John C van Swieten; Christine Van Broeckhoven; C.M. Duijn
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).
Brain : a journal of neurology 2000;123 ( Pt 10)():2130-40.
2000: Mieke M van Haelst; Alice S Brooks; Jeannette Hoogeboom; Marja W Wessels; Dick Tibboel; Johan C de Jongste; J C den Hollander; J J Bongers-Schokking; Martinus F Niermeijer; Patrick J Willems
Unexpected life-threatening complications in Kabuki syndrome.
American journal of medical genetics 2000;94(2):170-3.
2000: Nicolette S den Hollander; Wim J Kleijer; Ernst M Schoonderwaldt; Frans J Los; Juriy W Wladimiroff; Martinus F Niermeijer
In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2000;16(1):87-90.
2000: Nicolette S den Hollander; Marja W Wessels; Frans J Los; Nicolette T C Ursem; Martinus F Niermeijer; Juriy W Wladimiroff
Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2000;15(4):282-7.
2000: Froukje M E Slijper; Petra G Frets; Annemie L M Boehmer; Stenvert L S Drop; Martinus F Niermeijer
Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis.
Hormone research 2000;53(1):9-15.
2000: Bert B A de Vries; W F M Arts; Guido J Breedveld; Jeannette Hoogeboom; Martinus F Niermeijer; Peter Heutink
Benign hereditary chorea of early onset maps to chromosome 14q.
American journal of human genetics 2000;66(1):136-42.
1999: Annemie L M Boehmer; Albert O Brinkmann; L A Sandkuijl; D J J Halley; Martinus F Niermeijer; A S Andersson; Frank de Jong; Hulya Kayserili; M A de Vroede; Barto J Otten; Catrienus W Rouwé; B B Mendonça; C Rodrigues; H H Bode; Petra E de Ruiter; Henriette A Delemarre-Van De Waal; Stenvert L S Drop
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
The Journal of clinical endocrinology and metabolism 1999;84(12):4713-21.
1999: Litanja N Lodder; Petra G Frets; Rutger W Trijsburg; E Johanna Meijers-Heijboer; Jan G M Klijn; Hugo J Duivenvoorden; Aad Tibben; Anja Wagner; Conny A van der Meer; Peter Devilee; Cees J Cornelisse; Martinus F Niermeijer
Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group.
Journal of medical genetics 1999;36(12):906-13.
1999: Bert B A de Vries; S Mohkamsing; Ans M W van den Ouweland; E Mol; K Gelsema; MA van Rijn; Aad Tibben; D J J Halley; Hugo J Duivenvoorden; Ben A Oostra; Martinus F Niermeijer
Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.
Journal of medical genetics 1999;36(6):467-70.
1999: Bert B A de Vries; H M van den Boer-van den Berg; Martinus F Niermeijer; Aad Tibben
Dilemmas in counselling females with the fragile X syndrome.
Journal of medical genetics 1999;36(2):167-70.
1999: Patrizia Rizzu; John C van Swieten; Marijke Joosse; M Hasegawa; M Stevens; Aad Tibben; Martinus F Niermeijer; M Hillebrand; Rivka Ravid; Ben A Oostra; Michel Goedert; C.M. Duijn; Peter Heutink
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.
American journal of human genetics 1999;64(2):414-21.
1998: Bert B A de Vries; S Mohkamsing; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer; Ben A Oostra; Rob Willemsen
Screening with the FMR1 protein test among mentally retarded males.
Human genetics 1998;103(4):520-2.
1998: A C Dudok deWit; Hugo J Duivenvoorden; Jan Passchier; Martinus F Niermeijer; Aad Tibben
Course of distress experienced by persons at risk for an autosomal dominant inheritable disorder participating in a predictive testing program: an explorative study. Rotterdam/Leiden Genetics Workgroup.
Psychosomatic medicine 1998;60(5):543-9.
1998: AC DudokdeWit; Aad Tibben; Hugo J Duivenvoorden; Martinus F Niermeijer; Jan Passchier
Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup.
Journal of medical genetics 1998;35(9):745-54.
1998: MH Cnossen; Karel Moons; M P Garssen; N M Pasmans; A de Goede-Bolder; Martinus F Niermeijer; Diederick Grobbee
Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.
Journal of medical genetics 1998;35(8):624-7.
1998: L B de Vries; Ans M W van den Ouweland; S Mohkamsing; Lodewijk A Sandkuijl; Ben A Oostra; Martinus F Niermeijer
[A large-scale diagnostic program for the fragile X syndrome among the mentally handicapped. I. An epidemiologic survey].
Nederlands tijdschrift voor geneeskunde 1998;142(29):1666-71.
1998: Bert B A de Vries; D J J Halley; Ben A Oostra; Martinus F Niermeijer
The fragile X syndrome.
Journal of medical genetics 1998;35(7):579-89.
1998: MH Cnossen; A de Goede-Bolder; K M van den Broek; C M Waasdorp; Arnold P Oranje; Hans Stroink; Huibert J Simonsz; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer
A prospective 10 year follow up study of patients with neurofibromatosis type 1.
Archives of disease in childhood 1998;78(5):408-12.
1998: Martinus F Niermeijer; Frans J Los; L C P Govaerts; JO van Hemel; Cokkie H Wouters
[Finishing a pregnancy in an infaust fetal prognosis].
Nederlands tijdschrift voor geneeskunde 1998;142(9):485.
1998: AC DudokdeWit; Aad Tibben; Hugo J Duivenvoorden; Martinus F Niermeijer; Jan Passchier; Rutger W Trijsburg
Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews. Rotterdam/Leiden Genetics Workgroup.
American journal of medical genetics 1998;75(1):62-74.
1997: MA van Rijn; Bert B A de Vries; Aad Tibben; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer
DNA testing for fragile X syndrome: implications for parents and family.
Journal of medical genetics 1997;34(11):907-11.
1997: MH Cnossen; E N Stam; L C Cooiman; Huibert J Simonsz; Hans Stroink; Arnold P Oranje; D J J Halley; A de Goede-Bolder; Martinus F Niermeijer; Sabine M P F de Muinck Keizer-Schrama
Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.
Pediatrics 1997;100(4):667-70.
1997: Bert B A de Vries; Ans M W van den Ouweland; S Mohkamsing; Hugo J Duivenvoorden; E Mol; K Gelsema; MA van Rijn; D J J Halley; Lodewijk A Sandkuijl; Ben A Oostra; Aad Tibben; Martinus F Niermeijer
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
American journal of human genetics 1997;61(3):660-7.
1997: AC DudokdeWit; Aad Tibben; Petra G Frets; E Johanna Meijers-Heijboer; Peter Devilee; Jan G M Klijn; J C Oosterwijk; Martinus F Niermeijer
BRCA1 in the family: a case description of the psychological implications.
American journal of medical genetics 1997;71(1):63-71.
1997: MH Cnossen; F J Smit; A de Goede-Bolder; Petra G Frets; Hugo J Duivenvoorden; Martinus F Niermeijer
Diagnostic delay in neurofibromatosis type 1.
European journal of pediatrics 1997;156(6):482-7.
1997: AC DudokdeWit; Aad Tibben; Hugo J Duivenvoorden; Petra G Frets; Moniek W Zoeteweij; Monique Losekoot; Arie van Haeringen; Martinus F Niermeijer; Jan Passchier
Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.
Journal of medical genetics 1997;34(5):382-90.
1997: Annemie L M Boehmer; Albert O Brinkmann; Martinus F Niermeijer; L Bakker; D J J Halley; Stenvert L S Drop
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
American journal of human genetics 1997;60(4):1003-6.
1997: Petra G Frets; A C Dudok de Wit; Aad Tibben; E Johanna Meijers-Heijboer; Jan G M Klijn; Martinus F Niermeijer
[Hereditary breast and/or ovarian cancer: consequences for family relations].
Oncologica / Vereniging van Oncologie Verpleegkundigen 1997;14(1):47-9.
1997: Peter Heutink; M Stevens; Patrizia Rizzu; E Bakker; Johan M Kros; Aad Tibben; Martinus F Niermeijer; C.M. Duijn; Ben A Oostra; John C van Swieten
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families.
Annals of neurology 1997;41(2):150-9.
1997: Martinus F Niermeijer; JO van Hemel
[The Standard'(Threatened) Miscarriage' of the Dutch Society of Family Physicians].
Nederlands tijdschrift voor geneeskunde 1997;141(2):115-6.
1997: MH Cnossen; M N van der Est; Martijn H Breuning; CJ van Asperen; E J Breslau-Siderius; Ans T Van Der Ploeg; A de Goede-Bolder; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
Human mutation 1997;9(5):458-64.
1997: Aad Tibben; M Stevens; G M de Wert; Martinus F Niermeijer; C.M. Duijn; J C van Swieten
Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.
Journal of medical genetics 1997;34(1):63-72.
1996: Bert B A de Vries; C C Jansen; A A Duits; C Verheij; Rob Willemsen; JO van Hemel; Ans M W van den Ouweland; Martinus F Niermeijer; Ben A Oostra; D J J Halley
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
Journal of medical genetics 1996;33(12):1007-10.
1996: Bert B A de Vries; A M Wiegers; Arie P T Smits; S Mohkamsing; Hugo J Duivenvoorden; J P Fryns; L M Curfs; D J J Halley; Ben A Oostra; Ans M W van den Ouweland; Martinus F Niermeijer
Mental status of females with an FMR1 gene full mutation.
American journal of human genetics 1996;58(5):1025-32.
1995: Bert B A de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; Jaap van Doorn; D J J Halley; Ben A Oostra; G Turner; Martinus F Niermeijer
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.
Journal of medical genetics 1995;32(10):764-9.
1995: JO van Hemel; C Schaap; Diane Van Opstal; M P Mulder; Martinus F Niermeijer; J H Meijers
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
Journal of medical genetics 1995;32(8):657-8.
1995: Ans M W van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; Frans J Los; JO van Hemel; Raoul Hennekam; H J Meijers-Heijboer; Martinus F Niermeijer; D J J Halley
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
Human genetics 1995;95(5):562-7.
1995: I Hobus; Petra G Frets; Hugo J Duivenvoorden; Dick Tibboel; Martinus F Niermeijer
Factors influencing whether or not couples seek genetic counselling: an explorative study in a paediatric surgical unit.
Clinical genetics 1995;47(1):47-52.
1994: Aad Tibben; Hugo J Duivenvoorden; Martinus F Niermeijer; Maria Vegter-van der Vlis; Raymund A C Roos; F Verhage
Psychological effects of presymptomatic DNA testing for Huntington's disease in the Dutch program.
Psychosomatic medicine 1994;56(6):526-32.
1994: I M van der Steenstraten; Aad Tibben; Raymund A C Roos; J J van de Kamp; Martinus F Niermeijer
Predictive testing for Huntington disease: nonparticipants compared with participants in the Dutch program.
American journal of human genetics 1994;55(4):618-25.
1994: A C de Wit; E Johanna Meijers-Heijboer; Aad Tibben; Petra G Frets; Jan G M Klijn; Peter Devilee; Martinus F Niermeijer
Effect on a Dutch family of predictive DNA-testing for hereditary breast and ovarian cancer.
Lancet 1994;344(8916):197.
1994: Ans M W van den Ouweland; Bert B A de Vries; P L Bakker; Wout Deelen; Esther de Graaff; JO van Hemel; Ben A Oostra; Martinus F Niermeijer; D J J Halley
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.
American journal of medical genetics 1994;51(4):482-5.
1994: Helen Brandenburg; Jan van der Meulen; M G Jahoda; Juriy W Wladimiroff; Martinus F Niermeijer; J D Habbema
A quantitative estimation of the effect of prenatal diagnosis in dizygotic twin pregnancies in women of advanced maternal age.
Prenatal diagnosis 1994;14(4):243-56.
1994: L B De Vries; D J J Halley; Ben A Oostra; Martinus F Niermeijer
The fragile-X syndrome: a growing gene causing familial intellectual disability.
Journal of intellectual disability research : JIDR 1994;38 ( Pt 1)():1-8.
1994: Y Q Wu; Peter Heutink; Bert B A de Vries; Lodewijk A Sandkuijl; Ans M W van den Ouweland; Martinus F Niermeijer; H Galjaard; Edwin Reyniers; Patrick J Willems; D J J Halley
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Human molecular genetics 1994;3(1):167-71.
1993: Aad Tibben; Hugo J Duivenvoorden; Maria Vegter-van der Vlis; Martinus F Niermeijer; Petra G Frets; J J van de Kamp; Raymund A C Roos; H G Rooijmans; F Verhage
Presymptomatic DNA testing for Huntington disease: identifying the need for psychological intervention.
American journal of medical genetics 1993;48(3):137-44.
1993: Bert B A de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; JO van Hemel; Ben A Oostra; D J J Halley; Martinus F Niermeijer
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Journal of medical genetics 1993;30(9):761-6.
1993: Aad Tibben; Petra G Frets; J J van de Kamp; Martinus F Niermeijer; M Vegtervan der Vlis; Raymund A C Roos; H G Rooymans; G J van Ommen; F Verhage
On attitudes and appreciation 6 months after predictive DNA testing for Huntington disease in the Dutch program.
American journal of medical genetics 1993;48(2):103-11.
1993: Aad Tibben; Petra G Frets; J J van de Kamp; Martinus F Niermeijer; Maria Vegter-van der Vlis; Raymund A C Roos; G J van Ommen; Hugo J Duivenvoorden; F Verhage
Presymptomatic DNA-testing for Huntington disease: pretest attitudes and expectations of applicants and their partners in the Dutch program.
American journal of medical genetics 1993;48(1):10-6.
1993: R Thomassen; Aad Tibben; Martinus F Niermeijer; E van der Does; J J van de Kamp; F Verhage
Attitudes of Dutch general practitioners towards presymptomatic DNA-testing for Huntington disease.
Clinical genetics 1993;43(2):63-8.
1993: Bert B A de Vries; A M Wiegers; Esther de Graaff; A J Verkerk; JO van Hemel; D J J Halley; J P Fryns; L M Curfs; Martinus F Niermeijer; Ben A Oostra
Mental status and fragile X expression in relation to FMR-1 gene mutation.
European journal of human genetics : EJHG 1993;1(1):72-9.
1992: Aad Tibben; Martinus F Niermeijer; Raymund A C Roos; M Vegter van de Vlis; Petra G Frets; G J van Ommen; J J van de Kamp; F Verhage
Understanding the low uptake of presymptomatic DNA testing for Huntington's disease.
Lancet 1992;340(8832):1416.
1992: E J Meijers-Heijboer; Lodewijk A Sandkuijl; Han G Brunner; H J M Smeets; A J Hoogeboom; Wout Deelen; JO van Hemel; M R Nelen; Dominique Smeets; Martinus F Niermeijer
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
Journal of medical genetics 1992;29(12):853-7.
1992: Aad Tibben; Maria Vegter-van der Vlis; M I Skraastad; Petra G Frets; J J van der Kamp; Martinus F Niermeijer; Gert-Jan B van Ommen; Raymund A C Roos; H G Rooijmans; D Stronks
DNA-testing for Huntington's disease in The Netherlands: a retrospective study on psychosocial effects.
American journal of medical genetics 1992;44(1):94-9.
1992: A J Verkerk; B B deVries; Martinus F Niermeijer; Y H Fu; David L Nelson; Stephen Warren; D F Majoor-Krakauer; D J J Halley; Ben A Oostra
Intragenic probe used for diagnostics in fragile X families.
American journal of medical genetics 1992;43(1-2):192-6.
1992: Petra G Frets; Hugo J Duivenvoorden; F Verhage; Martinus F Niermeijer
The reproductive decision-making process after genetic counseling: psychosocial aspects.
Birth defects original article series 1992;28(1):21-8.
1992: Aad Tibben; M Vegter-vd Vlis; M I Skraastad; I S Leeuwen-Cornelisse; Petra G Frets; J J vd Kamp; Martinus F Niermeijer; G J von Ommen; Raymund A C Roos; H G Rooijmans
Presymptomatic DNA-testing for Huntington disease in The Netherlands.
Birth defects original article series 1992;28(1):127-31.
1991: Ben A Oostra; J F de Rijk-van Andel; H J Eussen; JO van Hemel; D J J Halley; Martinus F Niermeijer
DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
American journal of medical genetics 1991;40(3):383-6.
1991: Petra G Frets; F Verhage; Martinus F Niermeijer
Characteristics of the postcounseling reproductive decision-making process: an explorative study.
American journal of medical genetics 1991;40(3):298-303.
1991: J F De Rijk-van Andel; C E Catsman-Berrevoets; D J J Halley; E Wesby-van Swaay; Martinus F Niermeijer; Ben A Oostra
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
Human genetics 1991;87(4):509-10.
1991: Petra G Frets; Hugo J Duivenvoorden; F Verhage; B M Peters-Romeyn; Martinus F Niermeijer
Analysis of problems in making the reproductive decision after genetic counselling.
Journal of medical genetics 1991;28(3):194-200.
1991: J F de Rijk-van Andel; W F M Arts; Albert Hofman; A Staal; Martinus F Niermeijer
Epidemiology of lissencephaly type I.
Neuroepidemiology 1991;10(4):200-4.
1990: Petra G Frets; Martinus F Niermeijer
Reproductive planning after genetic counselling: a perspective from the last decade.
Clinical genetics 1990;38(4):295-306.
1990: D J J Halley; Henk J Veeze; L A Sandkuyl; E Wesby-van Swaay; N H van Damme; Wout Deelen; J E Witte; Martinus F Niermeijer
The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.
Human genetics 1990;85(4):407-8.
1990: Peter Heutink; Ben J van de Wetering; G J Breedveld; J Weber; L A Sandkuyl; E J Devor; A Heiberg; Martinus F Niermeijer; Ben A Oostra
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18.
Journal of medical genetics 1990;27(7):433-6.
1990: D J J Halley; J Bijman; Hugo R de Jonge; Maarten Sinaasappel; Herman J Neijens; Martinus F Niermeijer
The cystic fibrosis defect approached from different angles--new perspectives on the gene, the chloride channel, diagnosis and therapy.
European journal of pediatrics 1990;149(10):670-7.
1990: Petra G Frets; Hugo J Duivenvoorden; F Verhage; E Ketzer; Martinus F Niermeijer
Model identifying the reproductive decision after genetic counseling.
American journal of medical genetics 1990;35(4):503-9.
1990: Petra G Frets; Hugo J Duivenvoorden; F Verhage; Martinus F Niermeijer; S M van de Berge; H Galjaard
Factors influencing the reproductive decision after genetic counseling.
American journal of medical genetics 1990;35(4):496-502.
1990: A Reuss; Juriy W Wladimiroff; P A Stewart; Martinus F Niermeijer
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease.
Ultrasound in medicine & biology 1990;16(4):355-9.
1989: D J J Halley; N H van Damme; Wout Deelen; Ben A Oostra; M G Jahoda; E S Sachs; Frans J Los; Martinus F Niermeijer
Prenatal detection of major cystic fibrosis mutation.
Lancet 1989;2(8669):972.
1989: A Reuss; J C den Hollander; Martinus F Niermeijer; Juriy W Wladimiroff; Otto P van Diggelen; Dick Lindhout; Frans J Los
Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships.
American journal of medical genetics 1989;33(3):385-9.
1989: Martinus F Niermeijer; D J J Halley; Wim J Kleijer; H J Neijens; Maarten Sinaasappel
Prenatal diagnosis and genetic counseling of cystic fibrosis.
Acta paediatrica Scandinavica. Supplement 1989;363():20-4.
1988: L Pijpers; M G Jahoda; R P Vosters; Martinus F Niermeijer; E S Sachs
Genetic amniocentesis in twin pregnancies.
British journal of obstetrics and gynaecology 1988;95(4):323-6.
1988: A Reuss; Juriy W Wladimiroff; R J Scholtmeijer; P A Stewart; P J Sauer; Martinus F Niermeijer
Prenatal evaluation and outcome of fetal obstructive uropathies.
Prenatal diagnosis 1988;8(2):93-102.
1988: Juriy W Wladimiroff; E S Sachs; A Reuss; P A Stewart; L Pijpers; Martinus F Niermeijer
Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects.
American journal of medical genetics 1988;29(2):289-91.
1988: Petra G Frets; F Verhage; Martinus F Niermeijer
[Resistance to genetic counseling].
Nederlands tijdschrift voor geneeskunde 1988;132(1):12-7.
1987: A Reuss; Juriy W Wladimiroff; Martinus F Niermeijer
Antenatal diagnosis of renal tract anomalies by ultrasound.
Pediatric nephrology (Berlin, Germany) 1987;1(3):546-52.
1983: E S Sachs; A J Hoogeboom; Martinus F Niermeijer; G M Schreuder
Clinical evidence for localisation of HLA proximal of chromosome 6p22.
Lancet 1983;1(8325):659.