The variability of female reproductive ageing ER Te Velde, PL Pearson Human reproduction update 8 (2), 141-154, 2002 | 1607 | 2002 |
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 ST Reeders, MH Breuning, KE Davies, RD Nicholls, AP Jarman, ... Nature 317 (6037), 542-544, 1985 | 970 | 1985 |
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. JT Den Dunnen, PM Grootscholten, E Bakker, LA Blonden, HB Ginjaar, ... American journal of human genetics 45 (6), 835, 1989 | 698 | 1989 |
Technique for Identifying Y Chromosomes in Human Interphase Nuclei PL Pearson, M Bobrow, CG Vosa Nature 226 (5240), 78-80, 1970 | 606 | 1970 |
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome U Francke, HD Ochs, B de Martinville, J Giacalone, V Lindgren, ... American journal of human genetics 37 (2), 250, 1985 | 579 | 1985 |
Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization … T Cremer, J Landegent, A Brückner, HP Scholl, M Schardin, HD Hager, ... Human genetics 74, 346-352, 1986 | 542 | 1986 |
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome KE Davies, PL Pearson, PS Harper, JM Murray, T O'Brien, M Sarfarazi, ... Nucleic Acids Research 11 (8), 2303-2312, 1983 | 500 | 1983 |
Identification of a new copper metabolism gene by positional cloning in a purebred dog population B van De Sluis, J Rothuizen, PL Pearson, BA van Oost, C Wijmenga Human molecular genetics 11 (2), 165-173, 2002 | 450 | 2002 |
Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice BT Lamb, SS Sisodia, AM Lawler, HH Slunt, CA Kitt, WG Kearns, ... Nature genetics 5 (1), 22-30, 1993 | 432 | 1993 |
The role of genetic factors in age at natural menopause JP De Bruin, H Bovenhuis, PAH Van Noord, PL Pearson, ... Human reproduction 16 (9), 2014-2018, 2001 | 396 | 2001 |
A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q SC Bakker, EM Van der Meulen, JK Buitelaar, LA Sandkuijl, DL Pauls, ... The American Journal of Human Genetics 72 (5), 1251-1260, 2003 | 361 | 2003 |
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1. 28 SS Bhattacharya, AF Wright, JF Clayton, WH Price, CI Phillips, ... Nature 309 (5965), 253-255, 1984 | 331 | 1984 |
Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9 M Bobrow, K Madan, PL Pearson Nature New Biology 238 (82), 122-124, 1972 | 324 | 1972 |
Heart disease risk determines menopausal age rather than the reverse HS Kok, KM van Asselt, YT van der Schouw, I van der Tweel, ... Journal of the American College of Cardiology 47 (10), 1976-1983, 2006 | 282 | 2006 |
Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes P Devilee, RF Thierry, T Kievits, R Kolluri, AHN Hopman, HF Willard, ... Cancer Research 48 (20), 5825-5830, 1988 | 280 | 1988 |
Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q. P Devilee, M Van Vliet, P Van Sloun, J Hermans, PL Pearson, ... Oncogene 6 (9), 1705-1711, 1991 | 273 | 1991 |
At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma P Devilee, M van den Broek, N Kuipers-Dukshoorn, R Kolluri, PM Khan, ... Genomics 5 (3), 554-560, 1989 | 269 | 1989 |
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs E Bakker, N Goor, K Wrogemann, LM Kunkel, WA Fenton, ... The Lancet 325 (8430), 655-658, 1985 | 256 | 1985 |
Germinal mosaicism increases the recurrence risk for'new'Duchenne muscular dystrophy mutations. E Bakker, H Veenema, JT Den Dunnen, C Van Broeckhoven, ... Journal of medical genetics 26 (9), 553-559, 1989 | 246 | 1989 |
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy MH Hofker, MC Wapenaar, N Goor, E Bakker, GJB van Ommen, ... Human genetics 70, 148-156, 1985 | 246 | 1985 |