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Items: 1 to 20 of 63

1.

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

Arron JR, Winslow MM, Polleri A, Chang CP, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR.

Nature. 2006 Jun 1;441(7093):595-600. Epub 2006 Mar 22.

PMID:
16554754
2.
3.

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.

Gilardi JL, Perrotin F, Paillet C, Blesson S, Cave H, Briault S, Moraine C.

Prenat Diagn. 2002 Oct;22(10):856-8.

PMID:
12378564
4.

Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21.

Liehr T, Beensen V, Starke H, Hauschild R, Hempell E, Fritsche V, Hoppe C, Grosswendt G, Prechtel M, Ziegler M, Claussen U, von Eggeling F.

Clin Genet. 2001 Jul;60(1):83-5. No abstract available.

PMID:
11531976
5.

Maternal uniparental disomy of chromosome 21 in a normal child.

Rogan PK, Sabol DW, Punnett HH.

Am J Med Genet. 1999 Mar 5;83(1):69-71.

PMID:
10076888
6.

Prenatal diagnosis of a stable de novo centric fission: a case report.

Bogart MH, Fujita N, Serles L, Hsia YE.

Am J Med Genet. 1995 Oct 23;59(1):36-7.

PMID:
8849007
7.

A jumping Robertsonian translocation: a molecular and cytogenetic study.

Gross SJ, Tharapel AT, Phillips OP, Shulman LP, Pivnick EK, Park VM.

Hum Genet. 1996 Sep;98(3):291-6.

PMID:
8707296
8.

Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.

Bartsch O, König U, Petersen MB, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E.

Hum Genet. 1993 Sep;92(2):127-32.

PMID:
8370577
9.

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE.

Am J Hum Genet. 1993 Nov;53(5):1074-8.

10.
11.

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype.

Digilio MC, Mingarelli R, Marino B, Giannotti A, Melchionda S, Dallapiccola B.

Clin Genet. 1994 Sep;46(3):268-70.

PMID:
7820944
12.

Marker chromosome 21 identified by microdissection and FISH.

Sun Y, Rubinstein J, Soukup S, Palmer CG.

Am J Med Genet. 1995 Mar 27;56(2):151-4.

PMID:
7542834
13.

Translocation 21q22q in an infertile human male.

Chandley AC, Hargreave TB, Fletcher JM.

J Med Genet. 1982 Oct;19(5):366-9. No abstract available.

14.

Mosaic hexasomy 21.

Ketupånyå A, Crandåll BF, Blanchard K, Rogers DW.

J Med Genet. 1984 Jun;21(3):228-30.

15.

Isolation of repetitive DNA sequences from human chromosome 21.

Graham GJ, Hall TJ, Cummings MR.

Am J Hum Genet. 1984 Jan;36(1):25-35.

16.

Recurrence risk in 21q/21q translocation of Down syndrome.

Garver KL, Marchese SG, Steele MW, Ketterer DM.

J Pediatr. 1982 Feb;100(2):243-5. No abstract available.

PMID:
6460094
17.

A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q).

Uchida IA, Whelan DT.

Clin Genet. 1980 Apr;17(4):271-4.

PMID:
6445245
18.

Densitometric and visual measurements of human chromosome 21.

Yu CW, Downey HM, Priest JH.

Hum Genet. 1980 Feb;53(2):149-53.

PMID:
6444614
19.

Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

Tharapel AT, Redheendran R, Mankinen CB, Kukolich MK.

J Med Genet. 1984 Oct;21(5):391-5.

20.

Down syndrome with 45 chromosomes.

Hata A, Suzuki Y, Kuroki Y.

Jinrui Idengaku Zasshi. 1983 Sep;28(3):209-13. No abstract available.

PMID:
6231395

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