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Results: 14

PubMed Links for Books (Select 2983280)

1.

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA.

Hum Mol Genet. 2003 Sep 15;12(18):2269-76. Epub 2003 Jul 22.

2.

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1.

Shur N, Cowan J, Wheeler PG.

Am J Med Genet A. 2003 Aug 1;120A(4):542-6.

PMID:
12884436
3.

De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations.

Han JY, Kim KH, Lee HD, Moon SY, Shaffer LG.

Am J Med Genet. 1999 Dec 22;87(5):395-8.

PMID:
10594877
4.

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

Abeliovich D, Dagan J, Lerer I, Silberstein S, Katznelson MB, Frydman M.

Am J Med Genet. 1996 Dec 2;66(1):45-51.

PMID:
8957510
5.

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

Barisić I, Zergollern L, Muzinić D, Hitrec V.

Clin Genet. 1996 Mar;49(3):145-51.

PMID:
8737980
6.

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL.

Am J Med Genet. 1995 Nov 20;59(3):276-82. Review.

PMID:
8599349
7.

Familial paracentric inversion of chromosome 15 (q15q24).

Del Porto G, D'Alessandro E, De Matteis C, D'Innocenzo R, Baldi M, Pachi A, Cappa F.

J Med Genet. 1984 Dec;21(6):451-3.

8.
9.

Proximal duplications of chromosome 15: clinical dilemmas.

Hood OJ, Rouse BM, Lockhart LH, Bodensteiner JB.

Clin Genet. 1986 Mar;29(3):234-40.

PMID:
3698332
10.

Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases.

Sachs ES, Jahoda MG, Kleijer WJ, Pijpers L, Galjaard H.

Am J Med Genet. 1988 Feb;29(2):293-303.

PMID:
3354601
11.

Partial monosomy 15q due to de novo t(15;22)(q15;p11).

Mori MA, Rodriguez L, Pinel I, Casas JM, Diaz de Bustamante A, Martinez-Frias ML.

Ann Genet. 1987;30(4):246-8. Review.

PMID:
3322163
13.

Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)].

Fukushima Y, Wakui K, Nishida T, Nishimoto H.

Am J Med Genet. 1990 Jun;36(2):209-13.

PMID:
2368808
14.

Partial trisomy 15 in a young girl.

Mankinen CB, Hold JG, Sears JW.

Clin Genet. 1976 Jul;10(1):27-32.

PMID:
949862
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