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Items: 1 to 20 of 23

1.

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.

Havlovicova M, Novotna D, Kocarek E, Novotna K, Bendova S, Petrak B, Hrdlicka M, Sedlacek Z.

Am J Med Genet A. 2007 Jan 1;143A(1):76-81.

PMID:
17163520
2.

Ring chromosome 17: phenotype variation by deletion size.

Shashi V, White JR, Pettenati MJ, Root SK, Bell WL.

Clin Genet. 2003 Oct;64(4):361-5.

PMID:
12974742
3.

Short telomeres on human chromosome 17p.

Martens UM, Zijlmans JM, Poon SS, Dragowska W, Yui J, Chavez EA, Ward RK, Lansdorp PM.

Nat Genet. 1998 Jan;18(1):76-80.

PMID:
9425906
4.

Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome.

Yokoyama Y, Narahara K, Teraoka M, Koyama K, Seino Y, Yagi S, Konishi T, Miyawaki T.

Am J Med Genet. 1997 Aug 8;71(2):236-7. No abstract available.

PMID:
9217231
5.

Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization.

Fagan K, Edwards M.

Am J Med Genet. 1997 Apr 14;69(4):352-5.

PMID:
9098481
6.

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

Carpenter NJ, Leichtman LG, Stamper S, Say B.

J Med Genet. 1981 Jun;18(3):234-6.

7.

Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations.

Chudley AE, Pabello PD, McAlpine PJ, Nickel BE, Shokeir MH.

Am J Med Genet. 1982 Jun;12(2):219-25.

PMID:
7048927
8.
9.

Tertiary trisomy in a human kindred containing an E/G translocation.

Macintyre MN, Walden DB, Hempel JM.

Am J Hum Genet. 1971 Sep;23(5):431-41. No abstract available.

10.

[A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)].

Ono K, Suzuki Y, Fujii I, Takeshita K, Arima M.

Jinrui Idengaku Zasshi. 1974 Dec;19(3):235-42. Japanese. No abstract available.

PMID:
4478010
11.

A homozygous chromosomal variant.

Berg JM, Faunch JA, Pendrey MJ, Penrose LS, Ridler MA, Shapiro A.

Lancet. 1969 Mar 8;1(7593):531. No abstract available.

PMID:
4179603
12.

Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21).

Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carré-Pigeon F, Rumpler Y.

Cytogenet Cell Genet. 1986;43(3-4):154-60.

PMID:
3802918
13.

Miller-Dieker syndrome and monosomy 17p13: a new case.

Selypes A, László A.

Hum Genet. 1988 Sep;80(1):103-4.

PMID:
3417298
14.

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Schwartz CE, Johnson JP, Holycross B, Mandeville TM, Sears TS, Graul EA, Carey JC, Schroer RJ, Phelan MC, Szollar J, et al.

Am J Hum Genet. 1988 Nov;43(5):597-604.

16.

Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis.

Menon AG, Anderson KM, Riccardi VM, Chung RY, Whaley JM, Yandell DW, Farmer GE, Freiman RN, Lee JK, Li FP, et al.

Proc Natl Acad Sci U S A. 1990 Jul;87(14):5435-9.

17.

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al.

Science. 1990 Nov 30;250(4985):1233-8. Erratum in: Science. 1993 Feb 12;259(5097):878.

PMID:
1978757
19.

Partial trisomy 22q12----qter in prenatal diagnosis.

Tolkendorf E, Mehner G, Prager B.

Prenat Diagn. 1991 May;11(5):339-42.

PMID:
1896421
20.

Ring chromosome 17. Case report and review of the literature.

Teyssier M, Charrin C, Corgiolu Theuil G, David L.

Ann Genet. 1992;35(2):75-8. Review.

PMID:
1381884

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