SCOPUS 정보 검색 플랫폼

Volumn 88, Issue 2, 1991, Pages 167-174

Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21

(10) Blouin, Jean Louis a Aurias, Alain b Créau Goldberg, Nicole c Apiou, Françoise b Alcaide Loridan, Catherine c Bruel, Arlette a Prieur, Marguerite d Kraus, Jan e Delabar, Jean Maurice a Sinet, Pierre Marie a

a de la Recherche Scientifique Laboratoire de Biochimie Génétique ^* (France)

b CNRS (France)

c INSERM (France)

d HÔPITAL NECKER ENFANTS MALADES (France)

e UNIVERSITY OF COLORADO (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DUPLICATION; GAMETOGENESIS; GENE DOSAGE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; KARYOTYPE; LYMPHOCYTE; MALE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; DNA RESTRICTION ENZYMES; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; HUMAN; MALE; MOSAICISM; NUCLEIC ACID HYBRIDIZATION; OOGENESIS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECOMBINATION, GENETIC; SUPPORT, NON-U.S. GOV'T;

EID: 0026409855 PISSN: 03406717 EISSN: 14321203 Source Type: Journal
DOI: 10.1007/BF00206066 Document Type: Article

Times cited : (15)

References (52)

1
- 0025221059
- Analysis of DNA polymorphisms suggests that most de novo dup(21) chromosomes in patients with Down syndrome are isochromosomes and not translocations
- (1990) Am J Hum Genet , vol.47 , pp. 968-972
- Antonarakis, S.E.¹ Adelsberger, P.A.² Petersen, M.B.³ Binkert, F.⁴ Schinzel, A.A.⁵

2
- 0025907673
- Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of polymorphism
- the Down syndrome collaborative group
- (1991) N Engl J Med , vol.324 , pp. 872-876
- Antonarakis, S.E.¹

3
- 0025349856
- Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21
- (1990) Am J Hum Genet , vol.46 , pp. 518-526
- Blouin, J.L.¹ Rahmani, Z.² Chettouh, Z.³ Prieur, M.⁴ Fermanian, J.⁵ Poissonnier, M.⁶ Léonard, C.⁷ Nicole, A.⁸ Mattei, J.F.⁹ Sinet, P.M.¹⁰ Delabar, J.M.¹¹

4
- 0023970799
- Identification in chickens of an evolutionarily conserved cellular ets-2 gene (c-ets-2) encoding nuclear proteins related to the products of c-ets proto-oncogene
- (1988) EMBO J , vol.7 , pp. 697-705
- Boulukos, K.E.¹ Pognonec, P.² Begue, A.³ Galibert, F.⁴ Gesquière, J.C.⁵ Stéhelin, D.⁶ Ghysdael, J.⁷

5
- 0025616859
- Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies
- (1990) Am J Med Genet , vol.7 , pp. 125-128
- Brahe, C.¹ Tassone, F.² Moscetti, A.³ Millington-Ward, A.⁴ Bova, R.⁵ Serra, A.⁶

6
- 0026078715
- A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis
- (1991) Genomics , vol.9 , pp. 19-30
- Burmeister, M.¹ Kim, S.² Roydon Price, E.³ de Lange, T.⁴ Tantravahi, U.⁵ Myers, R.M.⁶ Cox, D.R.⁷

7
- 0020480644
- Cloning and characterisation of five overlapping cDNAs specific for the human proα1 (I) collagen chain
- (1982) Nucleic Acids Res , vol.10 , pp. 5925
- Chu, M.L.¹ Myers, J.C.² Bernard, M.P.³ Ding, J.F.⁴ Ramirez, F.⁵

8
- 0025131820
- Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes
- (1990) Science , vol.250 , pp. 245-250
- Cox, D.R.¹ Burmeister, M.² Price, E.R.³ Kim, S.⁴ Myers, R.M.⁵

9
- 0023216251
- Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism
- (1987) Hum Genet , vol.76 , pp. 396-398
- Créau-Goldberg, N.¹ Gegonne, A.² Delabar, J.³ Cochet, C.⁴ Cabanis, M.O.⁵ Stéhelin, D.⁶ Turleau, C.⁷ de Grouchy, J.⁸

10
- 84931192672
- Crété N, Delabar JM, Sinet PM, Créau-Goldberg N (1991a) Accurate evaluation of the size of fragments (from 30 to 4700 Kb) in PFGE analysis. Biotechnique (in press).

11
- 84901966153
- Advances in Molecular Genetics, Hüthig, Heidelberg
- (1991) Construction of a partial chromosome 21 map: long range map of 1200 kb inside the q22.3 region , pp. 325-331
- Crété, N.¹ Delabar, J.M.² Sinet, P.M.³ Créau-Goldberg, N.⁴

12
- 0025637602
- Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches
- (1990) Am J Med Genet , vol.7 , pp. 129-132
- Dagna Bricarelli, F.¹ Pierluigi, M.² Grasso, M.³ Strigini, P.⁴ Perroni, L.⁵

13
- 84931173721
- Hüthig, Heidelberg
- (1991) Mapping of chromosomev 21 markers by molecular analysis of partial trisomies and monosomies 21. (Advances in Molecular Genetics) , pp. 317-323
- Delabar, J.M.¹ Chettouh, Z.² Théophile, D.³ Rahmani, Z.⁴ Blouin, J.L.⁵ Pangalos, C.⁶ Léonard, C.⁷ Gilgenkrantz, S.⁸ Croquette, M.⁹ Sinet, P.M.¹⁰

15
- 0017066727
- Pure partial trisomy for long arm of chromosome 9
- (1976) J Med Genet , vol.13 , pp. 239-242
- Faed, M.¹ Robertson, J.² Brown, S.³ Smail, P.J.⁴ Muckhart, R.D.⁵

16
- 0022577807
- Fractionation of large mammalian DNA restriction fragments using vertical pulsedfield gradient gel electrophoresis
- (1986) Somat Cell Mol Genet , vol.12 , pp. 185-195
- Gardiner, K.¹ Laas, W.² Patterson, D.³

17
- 0024253674
- Partial physical map of human chromosome 21
- (1988) Somat Cell Mol Genet , vol.14 , pp. 623-638
- Gardiner, K.¹ Watkins, P.² Münke, M.³ Drabkin, H.⁴ Jones, C.⁵ Patterson, D.⁶

18
- 0025092046
- Analysis of human chromosome 21: correlation of physical and cytogenetic maps: gene and CpG island distributions
- (1990) EMBO J , vol.9 , pp. 25-34
- Gardiner, K.¹ Horisberger, M.² Kraus, J.³ Tantravahi, U.⁴ Korenberg, J.⁵ Rao, V.⁶ Reddy, S.⁷ Patterson, D.⁸

19
- 0023132387
- Characterization and chromosomal localisation of a cDNA encoding brain amyloid of Alzheimer's disease
- (1987) Science , vol.235 , pp. 877-880
- Goldgaber, D.¹ Lerman, M.I.² McBride, O.W.³ Scaffiotti, U.⁴ Gajdusek, D.C.⁵

20
- 0024843654
- Isochromosome not translocation in trisomy 21q21q
- (1989) Hum Genet , vol.84 , pp. 63-65
- Grasso, M.¹ Giovannucci² Pierluigi, M.³ Travellini, F.⁴ Perroni, L.⁵ Dagna Bricarelli, F.⁶

21
- 0018220531
- Trisomie 13qter par duplication en tandem
- (1978) Ann Génét (Paris) , vol.21 , pp. 247-251
- de Grouchy, J.¹ Turleau, C.² Danis, F.³ Kohout, G.⁴ Briard, M.L.⁵ Chavin-Colin, F.⁶ Cabanis, M.O.⁷ de Doussau⁸

22
- 0019860176
- Localisation of single copy DNA sequences on G banding human chromosomes by in situ hybridization
- (1981) Chromosoma , vol.83 , pp. 431-439
- Harper, M.E.¹ Saunders, G.F.²

23
- 0003592020
- An international system for human cytogenetic nomenclature
- ISCN, D.G., Harnden, H.P., Klinger, Karger, Basel
- (1985) Published in collaboration with Cytogenet Cell Genet

24
- 0017081784
- Clinical diagnosis of Down's syndrome
- (1976) Clin Genet , vol.9 , pp. 483-487
- Jackson, J.F.¹ North, E.R.² Thomas, J.G.³

25
- 0022476662
- Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids
- (1986) Am J Hum Genet , vol.38 , pp. 793-804
- van Keuren, M.L.¹ Watkins, P.C.² Drabkin, H.A.³ Jabs, E.W.⁴ Gusella, J.F.⁵ Patterson, D.⁶

26
- 0024398491
- Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms
- (1989) Cytogenet Cell Genet , vol.51 , pp. 622-947
- Kidd, K.K.¹ Bowcock, A.M.² Schmidtke, J.³ Track, R.K.⁴ Ricciuti, F.⁵ Hutchings, G.⁶ Bale, A.⁷ Pearson, P.⁸ Willard, H.F.⁹ Gelernter, J.¹⁰ Giuffra, L.¹¹ Kubzdela, K.¹²

27
- 0022476636
- Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine B-synthase and the subunit of propionyl-CoA carboxylase
- (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2047-2051
- Kraus, J.P.¹ Williaon, C.L.² Firgaira, F.A.³ Yang-Feng, T.L.⁴ Münke, M.⁵ Francke, U.⁶ Rosenberg, L.E.⁷

28
- 0022921763
- Genomic clones of the human liver-type phosphofructokinase
- (1986) Biochem Biophys Res Commun , vol.141 , pp. 374-380
- Levanon, D.¹ Danciger, E.² Dafni, N.³ Groner, Y.⁴

29
- 2042451124
- Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular bioloay of Down syndrome
- (1982) Proc Natl Acad Sci USA , vol.79 , pp. 2808-2811
- Lieman-Hurwitz, J.¹ Dafni, N.² Lavie, V.³ Groner, Y.⁴

30
- 0018950050
- De novo duplication 1q32-q42: variability of phenotypic features in partial 1q trisomics
- (1980) J Med Genet , vol.17 , pp. 398-401
- Lungarotti¹ Falorni, A.² Calabro, A.³ Passalacqua, F.⁴ Dallapicoola, B.⁵

31
- 0018899867
- Clinical, enzyme and cytogenetic investigations in three newcases of trisomy 8p
- (1980) Hum Genet , vol.53 , pp. 315-321
- Mattei, J.F.¹ Mattei, M.G.² Ardissone, J.P.³ Coignet, J.⁴ Giraud, F.⁵

32
- 0021984191
- DNA probe localisation at 18q11.3 band by in situ hybridization and identification of a small supernumerary chromosome
- (1985) Hum Genet , vol.69 , pp. 268-271
- Mattei, M.G.¹ Philip, N.² Passage, E.³ Moisan, J.P.⁴ Mandel, J.L.⁵ Mattei, J.F.⁶

33
- 0013536632
- Cloning a cDNA for the pro-α 2 chain of the human type I collagen
- (1981) Proc Natl Acad Sci USA , vol.78 , pp. 3516-3520
- Myers, J.C.¹ Chu, M.L.² Faro, S.H.³ Clark, W.J.⁴ Prockop, D.J.⁵ Ramirez, F.⁶

34
- 0025672635
- Crossing over and chromosome 21 nondisjunction: a study of 60 families
- (1990) Am J Med Genet , vol.7 , pp. 141-147
- Perroni, L.¹ Dagna Bricarelli, F.² Grasso, M.³ Pierluigi, M.⁴ Baldi, M.⁵ Pedemonte, C.⁶ Strigini, P.⁷

35
- 0025974925
- A genetic linkage map of 7 markers on human chromosome 21
- (1991) Genomics , vol.9 , pp. 407-419
- Petersen, M.B.¹ Slaugenhaupt, S.A.² Lewis, J.G.³ Warren, A.C.⁴ Chakravarti, A.⁵ Antonarakis, S.E.⁶

36
- 0016937256
- Trisomie 21 partielle (21q21→21q22.2)
- (1976) Ann Génét (Paris) , vol.19 , pp. 69-73
- Poissonnier, M.¹ Saint-Paul, B.² Dutrillaux, B.³ Chassaigné, M.⁴ Gruyer, P.⁵ de Blignières-Strouk, G.⁶

37
- 0021969002
- Cloning of a gene expressed in human breast cancer and regulated by estrogen in MCF-7 cells
- (1985) DNA , vol.4 , pp. 11-21
- Prud'homme, J.F.¹ Fridlansky, F.² Le Cunff, M.³ Atger, M.⁴ Mercier-Bodart, C.⁵ Pichon, M.F.⁶ Milgrom, E.⁷

38
- 0012083187
- Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome
- (1989) Proc Natl Acad Sci USA , vol.86 , pp. 5958-5962
- Rahmani, Z.¹ Blouin, J.L.² Créau-Goldberg, N.³ Watkins, P.C.⁴ Mattei, J.F.⁵ Poissonnier, M.⁶ Prieur, M.⁷ Chettouh, Z.⁸ Nicole, A.⁹ Aurias, A.¹⁰ Sinet, P.M.¹¹ Delabar, J.M.¹²

39
- 0025654656
- Down syndrome critical region around D21S55 on proximal 21q22.3
- (1990) Am J Med Genet , vol.7 , pp. 98-103
- Rahmani, Z.¹ Blouin, J.L.² Créau-Goldberg, N.³ Watkins, P.C.⁴ Mattei, J.F.⁵ Poissonnier, M.⁶ Prieur, M.⁷ Chettouh, Z.⁸ Nicole, A.⁹ Aurias, A.¹⁰ Sinet, P.M.¹¹ Delabar, J.M.¹²

40
- 0023788019
- Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21
- (1988) Proc Natl Acad Sci USA , vol.85 , pp. 4794-4798
- Sacchi, N.¹ Gusella, J.F.² Perroni, L.³ Dagna⁴ Papas, T.S.⁵

41
- 0024592501
- Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man
- (1989) Hum Genet , vol.81 , pp. 291-294
- Scherer, G.¹ Schempp, W.² Baccichetti, C.³ Lenzini, E.⁴ Dagna Bricarelli, F.⁵ Lamba Carbone, L.D.⁶ Wolf, U.⁷

42
- 0017254008
- Trisomie 21 et superoxyde dismutase-1 (IPOA-A): tentative de localisation sur la sous-bande 21q22.1
- (1976) Exp Cell Res , vol.9 , pp. 47-55
- Sinet, P.M.¹ Couturier, J.² Dutrillaux, B.³ Poissonnier, M.⁴ Raoul, O.⁵ Rethoré, M.O.⁶ Allard, D.⁷ Lejeune, J.⁸ Jerome, H.⁹

43
- 0022423429
- Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction
- (1985) Nucleic Acids Res , vol.13 , pp. 4125-4132
- Stewart, G.D.¹ Harris, P.² Galt, J.³ Ferguson-Smith, M.A.⁴

44
- 0025234969
- A high frequency EcoRI RFLP detected at the D21S13 locus
- (1990) Nucleic Acids Res , vol.18 , pp. 1319
- Stinissen, P.¹ Vandenberghe, A.² Van Broeckhoven, C.³

45
- 0025653748
- Nondisjunction of chromosome 21
- (1990) Am J Med Genet , vol.7 , pp. 175-181
- Takaesu, N.¹ Jacobs, P.A.² Cockwell, A.³ Blackston, R.D.⁴ Freeman, S.⁵ Nuccio, J.⁶ Kurnit, D.M.⁷ Uchida, I.⁸ Freeman, V.⁹ Hassold, T.¹⁰

46
- 0024064649
- Genetic linkage map of human chromosome 21
- (1988) Genomics , vol.3 , pp. 129-136
- Tanzi, R.E.¹ Haines, J.L.² Watkins, P.C.³ Stewart, G.D.⁴ Wallace⁵ Hallewell, R.⁶ Wong, C.⁷ Wexler, N.S.⁸ Conneally, P.M.⁹ Gusella, J.F.¹⁰

47
- 0016765859
- Partial trisomy 9p: a new syndrome
- (1975) Humangenetik , vol.29 , pp. 233-241
- Turleau, C.¹ de Grouchy, J.² Chavin-Colin, F.³ Roubin, M.⁴ Brissaud, P.E.⁵ Repessé, G.⁶ Safar, A.⁷ Borniche, P.⁸

48
- 0024673118
- A genetic linkage map of 17 markers on human chromosome 21
- (1989) Genomics , vol.4 , pp. 579-591
- Warren, A.C.¹ Slaugenhaupt, S.A.² Lewis, J.G.³ Chakravarti, A.⁴ Antonarakis, S.E.⁵

49
- 0022423522
- Isolation of polymorphic DNA segments from human chromosome 21
- (1985) Nucleic Acids Res , vol.13 , pp. 6075-6088
- Watkins, P.C.¹ Tanzi, R.E.² Gibbons, K.T.³ Tricoli, J.V.⁴ Landes, G.⁵ Eddy, R.⁶ Shows, T.B.⁷ Gusella, J.F.⁸

50
- 84912819139
- Isolation of single-copy probes detecting DNA polymorphisms from a cosmid library of chromosome 21
- (1985) Cytogenet Cell , vol.40 , pp. 773-774
- Watkins, P.C.¹ Watkins, P.A.² Hoffman, N.³ Stanislovitis, P.⁴

51
- 0023913292
- Cloning and chromosomal localisation of human genes encoding the three chains of type VI collagen
- (1988) Am J Hum Genet , vol.42 , pp. 435-445
- Weil, D.¹ Mattei, M.G.² Passage, E.³ Van Cong, N.G.⁴ Pribula-Conway, D.⁵ Mann, K.⁶ Deutzmann, R.⁷ Timpl, R.⁸ Chu, M.L.⁹

52
- 0024582524
- Molecular mechanism in the formation of a human ring chromosome 21
- (1989) Proc Natl Acad Sci USA , vol.86 , pp. 1914-1918
- Wong, C.¹ Kazazian, H.H.² Stellen, G.³ Earnshaw, W.C.⁴ Van Keuren, M.L.⁵ Antonarakis, S.E.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.