195 related articles for article (PubMed ID: 3036686)
1. Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).
Delabar JM; Sinet PM; Chadefaux B; Nicole A; Gegonne A; Stehelin D; Fridlansky F; Créau-Goldberg N; Turleau C; de Grouchy J
Hum Genet; 1987 Jul; 76(3):225-9. PubMed ID: 3036686
[TBL] [Abstract][Full Text] [Related]
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
Proc Natl Acad Sci U S A; 1989 Aug; 86(15):5958-62. PubMed ID: 2527368
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.
Capkova P; Misovicova N; Vrbicka D
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2014 Jun; 158(2):321-5. PubMed ID: 24145769
[TBL] [Abstract][Full Text] [Related]
5. Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality.
Huret JL; Delabar JM; Marlhens F; Aurias A; Nicole A; Berthier M; Tanzer J; Sinet PM
Hum Genet; 1987 Mar; 75(3):251-7. PubMed ID: 2951317
[TBL] [Abstract][Full Text] [Related]
6. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.
Vaglio A; Milunsky A; Quadrelli A; Huang XL; Maher T; Mechoso B; Martínez S; Pagano S; Bellini S; Costabel M; Quadrelli R
Genet Test Mol Biomarkers; 2010 Feb; 14(1):57-65. PubMed ID: 20143912
[TBL] [Abstract][Full Text] [Related]
7. Free proximal trisomy 21 without the Down syndrome.
Park JP; Wurster-Hill DH; Andrews PA; Cooley WC; Graham JM
Clin Genet; 1987 Nov; 32(5):342-8. PubMed ID: 2446809
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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; 56(1):67-71. PubMed ID: 7747789
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.
Barnicoat AJ; Bonneau JL; Boyd E; Docherty Z; Fennell SJ; Huret JL; King M; Maltby EL; McManus S; Pilz DT; Shafei-Benaissa E; Super M; Tolmie J
Clin Genet; 1996 Jan; 49(1):20-7. PubMed ID: 8721567
[TBL] [Abstract][Full Text] [Related]
17. Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17.
Cheng SV; Nadeau JH; Tanzi RE; Watkins PC; Jagadesh J; Taylor BA; Haines JL; Sacchi N; Gusella JF
Proc Natl Acad Sci U S A; 1988 Aug; 85(16):6032-6. PubMed ID: 2901095
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
Chen CP; Chern SR; Wang W; Lee CC; Chen WL; Chen LF; Chang TY; Tzen CY
Prenat Diagn; 2001 May; 21(5):346-50. PubMed ID: 11360273
[TBL] [Abstract][Full Text] [Related]
20. Unusual chromosome aberrations in 3 children with Down syndrome.
Osztovics M; Tóth S; Wilhelm O
Acta Paediatr Acad Sci Hung; 1982; 23(3):283-9. PubMed ID: 6217717
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
