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Page 1
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, et al. Rousseau F, et al. Among authors: tommerup n. N Engl J Med. 1991 Dec 12;325(24):1673-81. doi: 10.1056/NEJM199112123252401. N Engl J Med. 1991. PMID: 1944467 Free article.
Macroorchidism, mental retardation, and the fragile X.
Nielsen KB, Tommerup N. Nielsen KB, et al. Among authors: tommerup n. N Engl J Med. 1981 Nov 26;305(22):1348. doi: 10.1056/NEJM198111263052215. N Engl J Med. 1981. PMID: 7197323 No abstract available.
An excess of chromosome 1 breakpoints in male infertility.
Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. Bache I, et al. Among authors: tommerup n. Eur J Hum Genet. 2004 Dec;12(12):993-1000. doi: 10.1038/sj.ejhg.5201263. Eur J Hum Genet. 2004. PMID: 15367911
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: tommerup n. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
Second trimester prenatal diagnosis of the fragile X.
Tommerup N, Aula P, Gustavii B, Heiberg A, Holmgren G, von Koskull H, Leisti J, Mikkelsen M, Mitelman F, Nielsen KB, et al. Tommerup N, et al. Am J Med Genet. 1986 Jan-Feb;23(1-2):313-24. doi: 10.1002/ajmg.1320230124. Am J Med Genet. 1986. PMID: 2937296
350 results