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Items: 5

1.

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9. Review.

PMID:
19452620
2.
3.

1p microdeletion in sibs with minimal phenotypic manifestations.

Martínez JE, Tuck-Muller CM, Gasparrini W, Li S, Wertelecki W.

Am J Med Genet. 1999 Jan 15;82(2):107-9.

PMID:
9934971
4.

Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance.

Lurie IW, Wulfsberg EA, Prabhakar G, Rosenblum-Vos LS, Supovitz KR, Cohen MM.

Clin Genet. 1994 Sep;46(3):244-7. Review.

PMID:
7529663
5.

Deletion of chromosome 1p: a short review.

Howard PJ, Porteus M.

Clin Genet. 1990 Feb;37(2):127-31. Review.

PMID:
1968791

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