198 related articles for article (PubMed ID: 7999986)
1. 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]
2. 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]
3. 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]
4. 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]
5. Structural variation of chromosome 21 and symptoms of Down's syndrome.
Rethoré MO
Hum Genet Suppl; 1981; 2():173-82. PubMed ID: 6218134
[TBL] [Abstract][Full Text] [Related]
6. Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.
Hagemeijer A; Smit EM
Hum Genet; 1977 Aug; 38(1):15-23. PubMed ID: 143443
[TBL] [Abstract][Full Text] [Related]
7. 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]
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
Am J Hum Genet; 1992 Dec; 51(6):1240-50. PubMed ID: 1463008
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. An extra idic(21)(q22.1) in a child with some features of Down's syndrome.
Gütiérrez-Angulo M; Ramos AL; Dávalos N; Sánchez-Corona J; Rivera H
Clin Genet; 1999 Mar; 55(3):203-6. PubMed ID: 10334475
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Inv21p12q22del21q22 and intellectual disability.
Oliveira R; Dória S; Madureira C; Lima V; Almeida C; Pinho MJ; Ramalho C; Matoso E; Barros A; Carreira IM; Moura CP
Gene; 2013 Mar; 517(1):120-4. PubMed ID: 23266646
[TBL] [Abstract][Full Text] [Related]
14. Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down's Syndrome and Trisomy-21 Linked Disease.
Alexandrov PN; Percy ME; Lukiw WJ
Cell Mol Neurobiol; 2018 Apr; 38(3):769-774. PubMed ID: 28687876
[TBL] [Abstract][Full Text] [Related]
15. A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
Papoulidis I; Papageorgiou E; Siomou E; Oikonomidou E; Thomaidis L; Vetro A; Zuffardi O; Liehr T; Manolakos E; Vassilis P
Gene; 2014 Feb; 536(2):441-3. PubMed ID: 24334122
[TBL] [Abstract][Full Text] [Related]
16. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC; Locatelli C; Mattina T; Bonaglia MC; Piazza F; Magini P; Antonaros F; Ramacieri G; Vione B; Vitale L; Seri M; Strippoli P; Cocchi G; Piovesan A; Caracausi M
BMC Med Genomics; 2022 Dec; 15(1):266. PubMed ID: 36544206
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.
Rost I; Fiegler H; Fauth C; Carr P; Bettecken T; Kraus J; Meyer C; Enders A; Wirtz A; Meitinger T; Carter NP; Speicher MR
J Med Genet; 2004 Mar; 41(3):e26. PubMed ID: 14985397
[No Abstract] [Full Text] [Related]
[Next] [New Search]
