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Items: 9

1.

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL.

Am J Med Genet A. 2016 Sep 15. doi: 10.1002/ajmg.a.37976. [Epub ahead of print] Review.

PMID:
27633903
2.

Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.

Liakou AI, Esteves de Carvalho AV, Nazarenko LP.

J Dermatol. 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. Review.

PMID:
24801913
3.

[Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell-free fetal DNA].

Gorzelnik K, Bijok J, Zimowski JG, Jakiel G, Roszkowski T.

Ginekol Pol. 2013 Aug;84(8):714-9. Review. Polish.

PMID:
24191506
4.

Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.

Orendi K, Uhrig S, Mach M, Tschepper P, Speicher MR.

Am J Med Genet A. 2013 Jul;161A(7):1806-12. doi: 10.1002/ajmg.a.35986. Review. No abstract available.

PMID:
23695988
5.

Clinical and molecular genetics of psychotic depression.

Domschke K.

Schizophr Bull. 2013 Jul;39(4):766-75. doi: 10.1093/schbul/sbt040. Review.

6.

Cell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status.

Simpson JL.

Fertil Steril. 2013 Mar 15;99(4):1124-34. doi: 10.1016/j.fertnstert.2013.02.012. Review.

PMID:
23499003
7.

Response to growth hormone treatment in a patient with 18p-syndrome.

Rogers DG, Aswini RS.

J Pediatr Endocrinol Metab. 2012;25(9-10):1023-5. doi: 10.1515/jpem-2012-0100. Review.

PMID:
23426837
8.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H.

Genet Med. 2013 Jan;15(1):3-13. doi: 10.1038/gim.2012.78. Review.

PMID:
22935720
9.

Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Schmidt B, Udink ten Cate F, Weiss M, Koehler U.

Eur J Pediatr. 2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z. Review.

PMID:
22302461
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