207 related articles for article (PubMed ID: 2529205)
1. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.
McCormick MK; Schinzel A; Petersen MB; Stetten G; Driscoll DJ; Cantu ES; Tranebjaerg L; Mikkelsen M; Watkins PC; Antonarakis SE
Genomics; 1989 Aug; 5(2):325-31. PubMed ID: 2529205
[TBL] [Abstract][Full Text] [Related]
2. Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype.
Williams CA; Frias JL; McCormick MK; Antonarakis SE; Cantu ES
Am J Med Genet Suppl; 1990; 7():110-4. PubMed ID: 2149936
[TBL] [Abstract][Full Text] [Related]
3. Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.
Petersen MB; Tranebjaerg L; McCormick MK; Michelsen N; Mikkelsen M; Antonarakis SE
Am J Med Genet Suppl; 1990; 7():104-9. PubMed ID: 2149934
[TBL] [Abstract][Full Text] [Related]
4. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.
Rahmani Z; Blouin JL; Creau-Goldberg N; Watkins PC; Mattei JF; Poissonnier M; Prieur M; Chettouh Z; Nicole A; Aurias A
Proc Natl Acad Sci U S A; 1989 Aug; 86(15):5958-62. PubMed ID: 2527368
[TBL] [Abstract][Full Text] [Related]
5. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.
Korenberg JR; Kawashima H; Pulst SM; Ikeuchi T; Ogasawara N; Yamamoto K; Schonberg SA; West R; Allen L; Magenis E
Am J Hum Genet; 1990 Aug; 47(2):236-46. PubMed ID: 2143053
[TBL] [Abstract][Full Text] [Related]
6. Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.
Ahlbom BE; Goetz P; Korenberg JR; Pettersson U; Seemanova E; Wadelius C; Zech L; Annerén G
Am J Med Genet; 1996 Jun; 63(4):566-72. PubMed ID: 8826436
[TBL] [Abstract][Full Text] [Related]
7. Molecular mapping of twenty-four features of Down syndrome on chromosome 21.
Delabar JM; Theophile D; Rahmani Z; Chettouh Z; Blouin JL; Prieur M; Noel B; Sinet PM
Eur J Hum Genet; 1993; 1(2):114-24. PubMed ID: 8055322
[TBL] [Abstract][Full Text] [Related]
8. Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.
Daumer-Haas C; Schuffenhauer S; Walther JU; Schipper RD; Porstmann T; Korenberg JR
Am J Med Genet; 1994 Dec; 53(4):359-65. PubMed ID: 7532356
[TBL] [Abstract][Full Text] [Related]
9. Molecular mapping of chromosome 21 and the region responsible for Down syndrome.
Antonarakis SE; Warren AC; McCormick MK; Lewis JG; Hieter PA; Chakravarti A
Prog Clin Biol Res; 1989; 311():29-43. PubMed ID: 2528152
[No Abstract] [Full Text] [Related]
10. Down syndrome critical region around D21S55 on proximal 21q22.3.
Rahmani Z; Blouin JL; Créau-Goldberg N; Watkins PC; Mattei JF; Poissonnier M; Prieur M; Chettouh Z; Nicole A; Aurias A
Am J Med Genet Suppl; 1990; 7():98-103. PubMed ID: 2149984
[TBL] [Abstract][Full Text] [Related]
11. Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.
Sinet PM; Théophile D; Rahmani Z; Chettouh Z; Blouin JL; Prieur M; Noel B; Delabar JM
Biomed Pharmacother; 1994; 48(5-6):247-52. PubMed ID: 7999986
[TBL] [Abstract][Full Text] [Related]
12. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.
Pangalos C; Théophile D; Sinet PM; Marks A; Stamboulieh-Abazis D; Chettouh Z; Prieur M; Verellen C; Rethoré MO; Lejeune J
Am J Hum Genet; 1992 Dec; 51(6):1240-50. PubMed ID: 1463008
[TBL] [Abstract][Full Text] [Related]
13. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group.
Antonarakis SE
N Engl J Med; 1991 Mar; 324(13):872-6. PubMed ID: 1825697
[TBL] [Abstract][Full Text] [Related]
14. Cytological and molecular studies of nucleolar organizing region variants and recombination in trisomy 21.
Roulston D; Antonarakis SE; Lewis JG; Cohen MM; Schwartz S
Prog Clin Biol Res; 1989; 311():81-100. PubMed ID: 2528153
[No Abstract] [Full Text] [Related]
15. Down syndrome--a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide-dismutase type 1 (SOD-1) gene.
Annerén G; Edman B
APMIS Suppl; 1993; 40():71-9. PubMed ID: 8311993
[TBL] [Abstract][Full Text] [Related]
16. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
Nadal M; Milà M; Pritchard M; Mur A; Pujals J; Blouin JL; Antonarakis SE; Ballesta F; Estivill X
Hum Genet; 1996 Oct; 98(4):460-6. PubMed ID: 8792823
[TBL] [Abstract][Full Text] [Related]
17. Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases.
Crété N; Gosset P; Théophile D; Duterque-Coquillaud M; Blouin JL; Vayssettes C; Sinet PM; Créau-Goldberg N
Eur J Hum Genet; 1993; 1(1):51-63. PubMed ID: 8069651
[TBL] [Abstract][Full Text] [Related]
18. Down syndrome congenital heart disease: a narrowed region and a candidate gene.
Barlow GM; Chen XN; Shi ZY; Lyons GE; Kurnit DM; Celle L; Spinner NB; Zackai E; Pettenati MJ; Van Riper AJ; Vekemans MJ; Mjaatvedt CH; Korenberg JR
Genet Med; 2001; 3(2):91-101. PubMed ID: 11280955
[TBL] [Abstract][Full Text] [Related]
19. Down syndrome phenotypes: the consequences of chromosomal imbalance.
Korenberg JR; Chen XN; Schipper R; Sun Z; Gonsky R; Gerwehr S; Carpenter N; Daumer C; Dignan P; Disteche C
Proc Natl Acad Sci U S A; 1994 May; 91(11):4997-5001. PubMed ID: 8197171
[TBL] [Abstract][Full Text] [Related]
20. Down syndrome: toward a molecular definition of the phenotype.
Korenberg JR; Kawashima H; Pulst SM; Allen L; Magenis E; Epstein CJ
Am J Med Genet Suppl; 1990; 7():91-7. PubMed ID: 2149983
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]