Format
Sort by

Send to

Choose Destination

Links from Books

Items: 1 to 20 of 22

1.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP.

J Med Genet. 2004 Apr;41(4):241-8.

2.
3.

Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements.

Simopoulou M, Harper JC, Fragouli E, Mantzouratou A, Speyer BE, Serhal P, Ranieri DM, Doshi A, Henderson J, Rodeck CH, Delhanty JD.

Prenat Diagn. 2003 Aug;23(8):652-62.

PMID:
12913872
4.
5.

Neocentromere formation in a stable ring 1p32-p36.1 chromosome.

Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH.

J Med Genet. 1999 Dec;36(12):914-8.

6.

A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.

Joyce CA, Cabral de Almeida JC, Santa Rose AA, Correia P, Moraes L, Bastos E, Llerena J Jr.

Clin Genet. 1999 Jul;56(1):86-92.

PMID:
10466423
7.

Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection.

van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.

Mol Hum Reprod. 1997 Aug;3(8):699-704.

8.

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
9.

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.

Estop AM, Bansal V, Lin A, Levinson F, Karlin SM, Surti U, Wenger SL, Steele MW.

Am J Med Genet. 1994 Feb 15;49(4):410-3. Review.

PMID:
8160735
10.

Familial hypogonadism with a balanced reciprocal 1;12 translocation.

Handelsman D, Smith A.

J Med Genet. 1983 Dec;20(6):478. No abstract available.

11.

Repeated pregnancy loss.

FitzSimmons J, Wapner RJ, Jackson LG.

Am J Med Genet. 1983 Sep;16(1):7-13.

PMID:
6638072
12.

Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients.

Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H.

Acta Paediatr Scand Suppl. 1984;313:1-23.

PMID:
6241420
13.

Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome No. 1.

Marsh WL, Chaganti RS, Gardner FH, Mayer K, Nowell PC, German J.

Science. 1974 Mar 8;183(4128):966-8.

PMID:
4204206
14.

Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies.

Gil R, López-Ginés C, Gregori-Romero M, Sánchez MD, Pellin A.

Hum Genet. 1987 Dec;77(4):384. No abstract available.

PMID:
3692481
16.

The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect?

Lindenbaum RH, Hultén M, McDermott A, Seabright M.

J Med Genet. 1985 Feb;22(1):24-8.

17.
20.

A (1;17) translocation, balanced, plus trisomy 21, 47 chromosomes. Repository identification No. GM-201.

de la Chapelle A, Miller RC, Greene AE, Coriell LL.

Cytogenet Cell Genet. 1975;14(1):82-3. No abstract available.

PMID:
1132251
Items per page

Supplemental Content

Support Center