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Items: 1 to 20 of 152

1.

Karyotype instability with multiple 7/14 and 7/7 rearrangements.

Hustinx TW, Scheres JM, Weemaes CM, ter Haar BG, Janssen AH.

Hum Genet. 1979 Jun 19;49(2):199-208.

PMID:
468251
2.

A new chromosomal instability disorder: the Nijmegen breakage syndrome.

Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD.

Acta Paediatr Scand. 1981 Jul;70(4):557-64.

PMID:
7315300
3.

Ring chromosome 6: case report and review of literature.

Kini KR, Van Dyke DL, Weiss L, Logan MS.

Hum Genet. 1979;50(2):145-9.

PMID:
511129
4.
5.

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).

Kroes HY, Tuerlings JH, Hordijk R, Folkers NR, ten Kate LP.

J Med Genet. 1994 Feb;31(2):156-8. Review.

6.

The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy.

Chakanovskis JE, Sutherland GR.

J Ment Defic Res. 1971 Sep;15(3):153-62. No abstract available.

PMID:
5098076
8.

Ring chromosome 10 and its clinical features.

Nakai H, Adachi M, Katsushima N, Yamazaki N, Sakamoto M, Tada K.

J Med Genet. 1983 Apr;20(2):142-4.

9.
10.

[A new syndrome of mental retardation and chromosomic instability in 3 siblings].

Carnevale A, Molina B, Cardona M.

Rev Invest Clin. 1989 Jul-Sep;41(3):259-64. Spanish.

PMID:
2814001
11.

A chromosomal breakage syndrome with profound immunodeficiency.

Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW.

Blood. 1986 May;67(5):1251-6.

12.

Ring chromosome 13 syndrome.

Fried K, Rosenblatt M, Mundel G, Krikler R.

Clin Genet. 1975 Mar;7(3):203-8.

PMID:
1139790
13.

A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency.

Bouwes Bavinck JN, Weaver DD, Ellis FD, Ward RE.

Am J Med Genet. 1987 Apr;26(4):825-31.

PMID:
3109242
14.

A case of insertional translocation resulting in partial trisomy 16p.

Kokalj-Vokac N, Medica I, Zagorac A, Zagradisnik B, Erjavec A, Gregoric A.

Ann Genet. 2000 Jul-Dec;43(3-4):131-5.

PMID:
11164194
15.

Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

Taysi K, Dengler DR, Jones LA, Heersma JR.

Ann Genet. 1981;24(4):245-7. Review. No abstract available.

PMID:
7036843
16.

Ring chromosome 12.

Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH.

Am J Med Genet. 1988 Feb;29(2):437-40.

PMID:
3354616
17.

Ring chromosome 4.

McDermott A, Voyce MA, Romain D.

J Med Genet. 1977 Jun;14(3):228-32.

18.
19.

Two patients with ring chromosome 15 syndrome.

Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA 3rd.

Am J Med Genet. 1988 Jan;29(1):149-54. Review.

20.

Familial translocation between chromosomes of groups C and D (46, T(Cq-;Dq+).

Tal'vik TA, Mikel'saar AV, Mikel'saar RV.

Sov Genet. 1974 Jun 1;8(5):651-7. No abstract available.

PMID:
4413436

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