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Items: 49

1.

Ribosomal RNA gene sequences and hominoid phylogeny.

Gonzalez IL, Sylvester JE, Smith TF, Stambolian D, Schmickel RD.

Mol Biol Evol. 1990 May;7(3):203-19.

PMID:
2359361
2.

Sequence and structure correlation of human ribosomal transcribed spacers.

Gonzalez IL, Chambers C, Gorski JL, Stambolian D, Schmickel RD, Sylvester JE.

J Mol Biol. 1990 Mar 5;212(1):27-35.

PMID:
2319598
3.

Human ribosomal DNA: novel sequence organization in a 4.5-kb region upstream from the promoter.

Sylvester JE, Petersen R, Schmickel RD.

Gene. 1989 Dec 7;84(1):193-6.

PMID:
2606358
4.

The role of cytologic NOR variants in the etiology of trisomy 21.

Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS.

Am J Hum Genet. 1989 May;44(5):631-8. Review.

5.

Human 28S ribosomal RNA sequence heterogeneity.

Gonzalez IL, Sylvester JE, Schmickel RD.

Nucleic Acids Res. 1988 Nov 11;16(21):10213-24.

7.

Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end.

Worton RG, Sutherland J, Sylvester JE, Willard HF, Bodrug S, Dubé I, Duff C, Kean V, Ray PN, Schmickel RD.

Science. 1988 Jan 1;239(4835):64-8.

PMID:
3336775
8.

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.

Bodrug SE, Ray PN, Gonzalez IL, Schmickel RD, Sylvester JE, Worton RG.

Science. 1987 Sep 25;237(4822):1620-4.

PMID:
3629260
9.

Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987).

Shows TB, McAlpine PJ, Boucheix C, Collins FS, Conneally PM, Frézal J, Gershowitz H, Goodfellow PN, Hall JG, Issitt P, Jones CA, Knowles BB, Lewis M, McKusick VA, Meisler M, Morton NE, Rubenstein P, Schanfield MS, Schmickel RD, Skolnick MH, Spence MA, Sutherland GR, Traver M, Van Cong N, Willard HF, et al.

Cytogenet Cell Genet. 1987;46(1-4):11-28. No abstract available.

PMID:
3507270
10.

The secondary structure of human 28S rRNA: the structure and evolution of a mosaic rRNA gene.

Gorski JL, Gonzalez IL, Schmickel RD.

J Mol Evol. 1987;24(3):236-51.

11.

Clinical genetics conference: progress in understanding muscle disease.

Schmickel RD.

J Pediatr. 1986 Dec;109(6):1071-3. No abstract available.

PMID:
3783334
12.

A simple repetitive sequence common to herpes simplex virus type 1 and human ribosomal DNAs.

Parks CL, Jones TR, Gonzalez IL, Schmickel RD, Hyman RW, Spector DJ.

Virology. 1986 Oct 30;154(2):381-8.

PMID:
3020785
13.

Contiguous gene syndromes: a component of recognizable syndromes.

Schmickel RD.

J Pediatr. 1986 Aug;109(2):231-41. Review. No abstract available.

PMID:
3016222
14.

The human ribosomal RNA genes: structure and organization of the complete repeating unit.

Sylvester JE, Whiteman DA, Podolsky R, Pozsgay JM, Respess J, Schmickel RD.

Hum Genet. 1986 Jul;73(3):193-8.

PMID:
3015766
15.

The human 18S ribosomal RNA gene: evolution and stability.

Gonzalez IL, Schmickel RD.

Am J Hum Genet. 1986 Apr;38(4):419-27.

16.

Chromosomal deletions and enzyme deficiencies.

Schmickel RD.

J Pediatr. 1986 Feb;108(2):244-6. No abstract available.

PMID:
3944710
17.

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Ray PN, Belfall B, Duff C, Logan C, Kean V, Thompson MW, Sylvester JE, Gorski JL, Schmickel RD, Worton RG.

Nature. 1985 Dec 19-1986 Jan 1;318(6047):672-5.

PMID:
3001530
18.

Variation among human 28S ribosomal RNA genes.

Gonzalez IL, Gorski JL, Campen TJ, Dorney DJ, Erickson JM, Sylvester JE, Schmickel RD.

Proc Natl Acad Sci U S A. 1985 Nov;82(22):7666-70.

19.

Complementarity between ferritin H mRNA and 28 S ribosomal RNA.

Jain SK, Crampton J, Gonzalez IL, Schmickel RD, Drysdale JW.

Biochem Biophys Res Commun. 1985 Sep 16;131(2):863-7.

PMID:
3840373
20.

A molecular basis for discrete size variation in human ribosomal DNA.

Erickson JM, Schmickel RD.

Am J Hum Genet. 1985 Mar;37(2):311-25.

21.

Nucleolus organizing genes on chromosome 21: recombination and nondisjunction.

Schmickel RD, Gonzalez IL, Erickson JM.

Ann N Y Acad Sci. 1985;450:121-31. No abstract available.

PMID:
3160285
22.

Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.

Worton RG, Duff C, Sylvester JE, Schmickel RD, Willard HF.

Science. 1984 Jun 29;224(4656):1447-9.

PMID:
6729462
23.

Individual and evolutionary variation of primate ribosomal DNA transcription initiation regions.

Wilson GN, Knoller M, Szura LL, Schmickel RD.

Mol Biol Evol. 1984 Apr;1(3):221-37.

PMID:
6599965
24.

Holoprosencephaly in infants of diabetic mothers.

Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN.

J Pediatr. 1983 Apr;102(4):565-8.

PMID:
6834191
25.

Organization of rDNA spacer fragment variants among human acrocentric chromosomes in somatic cell hybrids.

Naylor SL, Sakaguchi AY, Schmickel RD, Woodworth-Gutai M, Shows TB.

J Mol Appl Genet. 1983;2(2):137-46.

PMID:
6875425
26.

Structure and variation of human ribosomal DNA: molecular analysis of cloned fragments.

Erickson JM, Rushford CL, Dorney DJ, Wilson GN, Schmickel RD.

Gene. 1981 Dec;16(1-3):1-9.

27.

The effect of ultrasonography on midtrimester genetic amniocentesis complications.

Nolan GH, Schmickel RD, Chantaratherakitti P, Knickerbocker C, Hamman J, Louwsma G.

Am J Obstet Gynecol. 1981 Jul 1;140(5):531-4.

PMID:
7246688
28.

HeLa cell identification by analysis of ribosomal DNA segment patterns generated by endonuclease restriction.

Schmickel RD, Waterson JR, Knoller M, Szura LL, Wilson GN.

Am J Hum Genet. 1980 Nov;32(6):890-7.

29.

The genetic basis of ophthalmological disease.

Schmickel RD.

Surv Ophthalmol. 1980 Jul-Aug;25(1):37-46. Review.

30.
31.

The association of chromosome 3 duplication and the Cornelia de Lange syndrome.

Wilson GN, Hieber VC, Schmickel RD.

J Pediatr. 1978 Nov;93(5):783-8.

PMID:
712481
32.

Molecular analysis of cloned human 18S ribosomal DNA segments.

Wilson GN, Hollar BA, Waterson JR, Schmickel RD.

Proc Natl Acad Sci U S A. 1978 Nov;75(11):5367-71.

33.

Familial Turner syndrome.

Leichtman DA, Schmickel RD, Gelehrter TD, Judd WJ, Woodbury MC, Meilinger KL.

Ann Intern Med. 1978 Oct;89(4):473-6.

PMID:
697225
34.

Cockayne syndrome: a cellular sensitivity to ultraviolet light.

Schmickel RD, Chu EH, Trosko JE, Chang CC.

Pediatrics. 1977 Aug;60(2):135-9.

PMID:
887325
35.

Characterization and localization of the human genes for ribosomal ribonucleic acid.

Schmickel RD, Knoller M.

Pediatr Res. 1977 Aug;11(8):929-35.

PMID:
329205
36.

The role of glycosidically bound mannose in the assimilation of beta-galactosidase by generalized gangliosidosis fibroblasts.

Hieber V, Distler J, Myerowitz R, Schmickel RD, Jourdian GW.

Biochem Biophys Res Commun. 1976 Dec 6;73(3):710-7. No abstract available.

37.

Posterior vortex vein and congenital glaucoma in a patient with trisomy 13 syndrome.

Lichter PR, Schmickel RD.

Am J Ophthalmol. 1975 Nov;80(5):939-42.

PMID:
1190286
38.

Accumulation of sulfate-containing acid mucopolysaccharides in I-cell fibroblasts.

Schmickel RD, Distler JJ, Jourdian GW.

J Lab Clin Med. 1975 Oct;86(4):672-82.

PMID:
170349
40.

Digital hypoplasia and anticonvulsants during gestation: a teratogenic syndrome?

Barr M Jr, Poznanski AK, Schmickel RD.

J Pediatr. 1974 Feb;84(2):254-6. No abstract available.

PMID:
4204190
41.

The hand in the trichorhinophalangeal syndrome.

Poznanski AK, Schmickel RD, Harper HA.

Birth Defects Orig Artic Ser. 1974;10(9):209-19. No abstract available.

PMID:
4420722
42.

The campomelique syndrome.

Schmickel RD, Heidelberger KP, Poznanski AK.

J Pediatr. 1973 Feb;82(2):299-302. No abstract available.

PMID:
4684376
43.
44.

Group G deletion syndromes.

Kelch RP, Franklin M, Schmickel RD.

J Med Genet. 1971 Sep;8(3):341-5. No abstract available.

45.

A live-born infant with 69 chromosomes.

Schmickel RD, Silverman EM, Floyd AD, Payne FE, Pooley JM, Beck ML.

J Pediatr. 1971 Jul;79(1):97-103. No abstract available.

PMID:
4326339
46.

Susceptibility of trisomic and of triploid human fibroblasts to simian virus 40 (SV40).

Payne FE, Schmickel RD.

Nat New Biol. 1971 Apr 7;230(14):190. No abstract available.

PMID:
4324354
47.

Persistent chromosomal aberrations following radioiodine therapy for thyrotoxicosis.

Cantolino SJ, Schmickel RD, Ball M, Cisar CF.

N Engl J Med. 1966 Oct 6;275(14):739-45. No abstract available.

PMID:
5922809
48.

Chromosomal translocations in patients with mongolism and in their normal relatives.

BREG WR, MILLER OJ, SCHMICKEL RD.

N Engl J Med. 1962 Apr 26;266:845-52. No abstract available.

PMID:
13872743
49.

A family with an XXXXY male, a leukaemic male, and two 21-trisomic mongoloid females.

MILLER OJ, BREG WR, SCHMICKEL RD, TRETTER W.

Lancet. 1961 Jul 8;2(7193):78-9. No abstract available.

PMID:
13770873

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