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Items: 1 to 20 of 111

1.

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, et al.

Am J Med Genet Suppl. 1990;7:98-103.

PMID:
2149984
2.

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, et al.

Proc Natl Acad Sci U S A. 1989 Aug;86(15):5958-62.

3.

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 1;53(4):359-65.

PMID:
7532356
4.

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.

PMID:
8055322
5.

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.

PMID:
8069651
6.

3.6-Mb genomic and YAC physical map of the Down syndrome chromosome region on chromosome 21.

Dufresne-Zacharia MC, Dahmane N, Theophile D, Orti R, Chettouh Z, Sinet PM, Delabar JM.

Genomics. 1994 Feb;19(3):462-9.

PMID:
8188288
7.

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.

PMID:
2149983
8.

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, et al.

Am J Hum Genet. 1992 Dec;51(6):1240-50.

9.

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.

PMID:
7999986
10.

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

Korenberg JR, Bradley C, Disteche CM.

Am J Hum Genet. 1992 Feb;50(2):294-302.

11.

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.

PMID:
2529205
12.

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 28;63(4):566-72.

PMID:
8826436
13.

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.

PMID:
2149934
14.

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.

PMID:
2149936
15.

Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation.

Scott JA, Wenger SL, Steele MW, Chakravarti A.

Am J Med Genet. 1995 Mar 13;56(1):67-71.

PMID:
7747789
16.

A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21.

Ohira M, Ichikawa H, Suzuki E, Iwaki M, Suzuki K, Saito-Ohara F, Ikeuchi T, Chumakov I, Tanahashi H, Tashiro K, Sakaki Y.

Genomics. 1996 Apr 1;33(1):65-74.

PMID:
8617511
18.

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N.

Am J Med Genet A. 2006 Feb 1;140(3):227-32.

PMID:
16411203
19.

Free proximal trisomy 21 without the Down syndrome.

Park JP, Wurster-Hill DH, Andrews PA, Cooley WC, Graham JM Jr.

Clin Genet. 1987 Nov;32(5):342-8. Review.

PMID:
2446809
20.

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 Mar-Apr;3(2):91-101.

PMID:
11280955

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