169 related articles for article (PubMed ID: 468232)
1. A case of 21q--syndrome with normal SOD-1 activity.
Yamamoto Y; Ogasawara N; Gotoh A; Komiya H; Nakai H; Kuroki Y
Hum Genet; 1979 May; 48(3):321-7. PubMed ID: 468232
[TBL] [Abstract][Full Text] [Related]
2. Interstitial deletion of chromosome 13: prognosis and adult phenotype.
Dean JC; Simpson S; Couzin DA; Stephen GS
J Med Genet; 1991 Aug; 28(8):533-5. PubMed ID: 1920369
[TBL] [Abstract][Full Text] [Related]
3. A case of partial monosomy 21q22.2 associated with Rieger's syndrome.
Nielsen F; Trånebjaerg L
J Med Genet; 1984 Jun; 21(3):218-21. PubMed ID: 6431108
[TBL] [Abstract][Full Text] [Related]
4. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.
Ferrante E; Vignetti P; Antonelli M; Bruni L; Bertasi S; Chessa L
Helv Paediatr Acta; 1983 Mar; 38(1):73-80. PubMed ID: 6345474
[TBL] [Abstract][Full Text] [Related]
5. A case of 21q-syndrome with half normal SOD-1 activity.
Yoshimitsu K; Hatano S; Kobayashi Y; Takeoka Y; Hayashidani M; Ueda K; Nomura K; Ohama K; Usui T
Hum Genet; 1983; 64(2):200-2. PubMed ID: 6885062
[TBL] [Abstract][Full Text] [Related]
6. Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.
Narahara K; Kikkawa K; Kimira S; Kimoto H; Ogata M; Kasai R; Hamawaki M; Matsuoka K
Hum Genet; 1984; 66(2-3):181-5. PubMed ID: 6325323
[TBL] [Abstract][Full Text] [Related]
7. Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.
Wulfsberg EA; Carrel RE; Klisak IJ; O'Brien TJ; Sykes JA; Sparkes RS
Hum Genet; 1983; 64(3):271-2. PubMed ID: 6885070
[TBL] [Abstract][Full Text] [Related]
8. Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.
Tomkins DJ; Hunter AG; Uchida IA; Roberts MH
Clin Genet; 1982 Dec; 22(6):348-55. PubMed ID: 7160106
[TBL] [Abstract][Full Text] [Related]
9. A case of de novo interstitial deletion 3q.
Okada N; Hasegawa T; Osawa M; Fukuyama Y
J Med Genet; 1987 May; 24(5):305-8. PubMed ID: 3585947
[TBL] [Abstract][Full Text] [Related]
10. Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).
Beemer FA; Klep-de Pater JM; Sepers GJ; Janssen B
Clin Genet; 1985 May; 27(5):515-9. PubMed ID: 4006278
[TBL] [Abstract][Full Text] [Related]
11. Langer-Giedion syndrome with interstitial 8q-deletion.
Zabel BU; Baumann WA
Am J Med Genet; 1982 Mar; 11(3):353-8. PubMed ID: 7081298
[TBL] [Abstract][Full Text] [Related]
12. A case of r(21) with stigmata of atypical Down syndrome.
Ieshima A; Ogasawara N; Yamamoto Y; Kuroki Y
Hum Genet; 1980; 55(1):65-9. PubMed ID: 6450156
[TBL] [Abstract][Full Text] [Related]
13. Two cases with different deletions of the long arm of chromosome 7.
Klep-de Pater JM; Bijlsma JB; Bleeker-Wagemakers EM; de France HF; de Vries-Ekkers CM
J Med Genet; 1979 Apr; 16(2):151-4. PubMed ID: 458833
[TBL] [Abstract][Full Text] [Related]
14. Partial monosomy of long arm of chromosome 4 due to interstitial deletion.
McDermott A; Cain R; Howell R
Hum Genet; 1980; 53(3):305-7. PubMed ID: 7372333
[TBL] [Abstract][Full Text] [Related]
15. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.
Brandt CA; Kierkegaard O; Hindkjaer J; Jensen PK; Pedersen S; Therkelsen AJ
Clin Genet; 1993 Jul; 44(1):26-31. PubMed ID: 8403451
[TBL] [Abstract][Full Text] [Related]
16. [Alopecia, deformed ear and mental retardation associated with terminal 21q deletion].
Lafabregue E; Chaby G; Vabres P; Carmi E
Ann Dermatol Venereol; 2019 Sep; 146(8-9):563-570. PubMed ID: 30922549
[TBL] [Abstract][Full Text] [Related]
17. Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns.
Fryns JP; Kleczkowska A; Limbos C; Vandecasseye W; Van den Berghe H
Ann Genet; 1985; 28(4):248-50. PubMed ID: 3879440
[TBL] [Abstract][Full Text] [Related]
18. Partial deletion 21: case report with biochemical studies and review.
Carpenter NJ; Mayes JS; Say B; Wilson DP
J Med Genet; 1987 Nov; 24(11):706-9. PubMed ID: 3430548
[TBL] [Abstract][Full Text] [Related]
19. A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.
Tatar A; Oztas S; Yakut T; Ors R
Genet Couns; 2005; 16(2):173-7. PubMed ID: 16080298
[TBL] [Abstract][Full Text] [Related]
20. De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
Yoshino M; Watanabe Y; Harada N; Abe K
J Med Genet; 1991 Aug; 28(8):539-40. PubMed ID: 1920371
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]