Published in Lancet on March 19, 1983
Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J Med Genet (1998) 1.16
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet (2004) 0.97
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet (2012) 0.87
Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med (2001) 4.13
Influence of non-inherited maternal HLA antigens on occurrence of rheumatoid arthritis. Lancet (1993) 3.87
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet (2000) 3.73
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet (2001) 3.28
Relation between skin cancer and HLA antigens in renal-transplant recipients. N Engl J Med (1991) 2.93
Anticipation in myotonic dystrophy: fact or fiction? Brain (1989) 2.41
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet (1997) 2.27
[Familial forms of fronto-temporal dementia]. Ned Tijdschr Geneeskd (1995) 2.04
The fragile X syndrome. J Med Genet (1998) 2.00
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet (1999) 1.87
Secretion of tumour necrosis factor alpha and lymphotoxin alpha in relation to polymorphisms in the TNF genes and HLA-DR alleles. Relevance for inflammatory bowel disease. Scand J Immunol (1996) 1.86
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet (1981) 1.84
Familial aggregation in frontotemporal dementia. Neurology (1998) 1.76
Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies. Prenat Diagn (1987) 1.70
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet (1994) 1.68
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain (2001) 1.59
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy. Eur J Cancer (2004) 1.52
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet (2001) 1.51
Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure. Prenat Diagn (1992) 1.50
Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation. Am J Med Genet A (2003) 1.48
Association of tuberculosis and M. tuberculosis-specific antibody levels with HLA. J Infect Dis (1989) 1.48
The risk of spina bifida aperta after first-trimester exposure to valproate in a prenatal cohort. Neurology (1992) 1.43
The role of ultrasound in the early diagnosis of fetal structural defects following maternal anticonvulsant therapy. Ultrasound Med Biol (1988) 1.42
Nomenclature for factors of the HLA system, 1998. Tissue Antigens (1999) 1.40
Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol (1997) 1.36
Association of HLA-DR4 with a more progressive disease course in patients with rheumatoid arthritis. Results of a followup study. Arthritis Rheum (1991) 1.36
Predictive testing for Huntington disease: nonparticipants compared with participants in the Dutch program. Am J Hum Genet (1994) 1.34
Presymptomatic DNA-testing for Huntington disease: pretest attitudes and expectations of applicants and their partners in the Dutch program. Am J Med Genet (1993) 1.25
HLA-DRB1*03, but not the TNFA -308 promoter gene polymorphism, confers protection against fistulising Crohn's disease. Immunogenetics (1998) 1.25
Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab (2001) 1.22
Nomenclature for factors of the HLA system, 2000. Tissue Antigens (2001) 1.21
TNF-308A and HLA-DR3 alleles contribute independently to susceptibility to systemic lupus erythematosus. Arthritis Rheum (2000) 1.20
Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy. J Neurol Sci (1984) 1.19
Frontotemporal dementia: behavioral symptoms and caregiver distress. Dement Geriatr Cogn Disord (2004) 1.19
Occasional memory cytotoxic T-cell responses of patients with human papillomavirus type 16-positive cervical lesions against a human leukocyte antigen-A *0201-restricted E7-encoded epitope. Cancer Res (1996) 1.18
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. Am J Med Genet (1994) 1.18
Nomenclature for factors of the HLA system, 1996. Tissue Antigens (1997) 1.18
On attitudes and appreciation 6 months after predictive DNA testing for Huntington disease in the Dutch program. Am J Med Genet (1993) 1.18
First trimester chromosomal analysis of complex structural rearrangements with RHA banding on chorionic villi. Lancet (1983) 1.17
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab (1999) 1.16
Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup. J Med Genet (1997) 1.15
Immunogenetic heterogeneity of rheumatoid arthritis. Ann Rheum Dis (1986) 1.14
A prospective 10 year follow up study of patients with neurofibromatosis type 1. Arch Dis Child (1998) 1.13
Mechanisms of copper incorporation into human ceruloplasmin. J Biol Chem (2002) 1.13
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet (1992) 1.11
HLA-DQ-associated predisposition to and dominant HLA-DR-associated protection against rheumatoid arthritis. Hum Immunol (1999) 1.11
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat (1997) 1.11
HLA-associated inverse correlation between T cell and antibody responsiveness to islet autoantigen in recent-onset insulin-dependent diabetes mellitus. Eur J Immunol (1996) 1.11
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet (1996) 1.10
Caregiver burden, health-related quality of life and coping in dementia caregivers: a comparison of frontotemporal dementia and Alzheimer's disease. Dement Geriatr Cogn Disord (2006) 1.10
Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants. Hum Genet (1980) 1.09
Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet (2001) 1.09
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol (1997) 1.09
[Genetic carrier screening for hemoglobinopathies: the situation in the Netherlands compared with England]. Ned Tijdschr Geneeskd (1998) 1.08
Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. J Med Genet (1998) 1.08
Nomenclature for factors of the HLA system, 2000. Eur J Immunogenet (2001) 1.08
HLA-DR and -DQ gene polymorphism in West Africans is twice as extensive as in north European Caucasians: evolutionary implications. Proc Natl Acad Sci U S A (1991) 1.07
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer (2001) 1.07
Factors influencing the reproductive decision after genetic counseling. Am J Med Genet (1990) 1.06
Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency. Clin Genet (1979) 1.03
BRCA1 in the family: a case description of the psychological implications. Am J Med Genet (1997) 1.03
Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group. J Med Genet (1999) 1.02
The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma. Prenat Diagn (1987) 1.02
Understanding the low uptake of presymptomatic DNA testing for Huntington's disease. Lancet (1992) 1.01
T cell recognition of Neisseria meningitidis class 1 outer membrane proteins. Identification of T cell epitopes with selected synthetic peptides and determination of HLA restriction elements. J Immunol (1991) 1.01
Genetic markers in clinically well defined patients with ulcerative colitis (UC). Clin Exp Immunol (1999) 1.01
Influence of non-inherited maternal HLA-DR antigens on susceptibility to rheumatoid arthritis. Ann Rheum Dis (1998) 1.00
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. J Med Genet (1990) 1.00
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet (2013) 1.00
Chromosome studies of 500 couples with two or more abortions. Obstet Gynecol (1985) 0.99
Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia. Prenat Diagn (1988) 0.98
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol (1990) 0.98
Complex compulsive behaviour in the temporal variant of frontotemporal dementia. J Neurol (2001) 0.98
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. Horm Res (2000) 0.98
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation. Mol Hum Reprod (2005) 0.97
TA10 and 2B3, two new alleles in the HLA-DQ region recognized by monoclonal antibodies. Hum Immunol (1986) 0.97
A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease). Clin Chim Acta (1973) 0.96
HLA-DO polymorphism associated with resistance to type I diabetes detected with monoclonal antibodies, isoelectric point differences, and restriction fragment length polymorphism. J Exp Med (1986) 0.96
Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases. Humangenetik (1973) 0.96
Werner's syndrome: proliferation in vitro of clones of cells bearing chromosome translocations. Am J Hum Genet (1984) 0.96
Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews. Rotterdam/Leiden Genetics Workgroup. Am J Med Genet (1998) 0.96
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. Eur J Hum Genet (2001) 0.95
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. J Med Genet (1995) 0.95
Psychological effects of presymptomatic DNA testing for Huntington's disease in the Dutch program. Psychosom Med (1995) 0.95
Evidence for genetic heterogeneity in inflammatory bowel disease (IBD); HLA genes in the predisposition to suffer from ulcerative colitis (UC) and Crohn's disease (CD). Clin Exp Immunol (1997) 0.95
Epidemiology of lissencephaly type I. Neuroepidemiology (1991) 0.94
The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci. Hum Immunol (2001) 0.94
Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology (1997) 0.93
Association between specific HLA combinations and probability of kidney allograft loss: the taboo concept. Lancet (1996) 0.93
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain (2000) 0.93
Biotinylated DRB sequence-specific oligonucleotides. Comparison to serologic HLA-DR typing of organ donors in eurotransplant. Hum Immunol (1993) 0.93
Beneficial effect of HLA-DR matching on the survival of corneal allografts. Transplantation (2000) 0.92
Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. Am J Med Genet (1987) 0.92
Numerous high-risk epithelial lesions in familial breast cancer. Eur J Cancer (2006) 0.92
The effect of HLA matching on kidney graft survival in separate posttransplantation intervals. Transplantation (1990) 0.92