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Results: 1 to 20 of 516

Similar articles for PubMed (Select 16473306)

1.

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

de Pater JM, Poot M, Beemer FA, Bijlsma JB, Hack WW, Van Dam WM, Eleveld MJ, Loneus WH, Engelen JJ.

Eur J Med Genet. 2006 Jan-Feb;49(1):19-27. Epub 2005 Feb 8.

PMID:
16473306
2.

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

Córdova-Fletes C, Sáinz-González E, Avendaño-Gálvez RI, Ramírez-Velazco A, Rivera H, Ortiz-López R, Arámbula-Meraz E, Picos-Cárdenas VJ.

J Genet. 2014 Dec;93(3):869-73. No abstract available.

3.

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Şimşek-Kiper PÖ, Bayram Y, Ütine GE, Alanay Y, Boduroğlu K.

Turk J Pediatr. 2014 Jan-Feb;56(1):80-4.

4.

Novel airway findings in a patient with 1p36 deletion syndrome.

Ferril GR, Barham HP, Prager JD.

Int J Pediatr Otorhinolaryngol. 2014 Jan;78(1):157-8. doi: 10.1016/j.ijporl.2013.08.041. Epub 2013 Nov 14. Review.

PMID:
24290305
5.

Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF.

Acta Neuropathol Commun. 2013 Aug 2;1:45. doi: 10.1186/2051-5960-1-45.

6.

Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.

Atik T, Durmaz B, Yorganci OU, Cogulu O, Kioutsouk M, Ozkinay F.

Genet Couns. 2013;24(2):179-84.

PMID:
24032288
7.
8.

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

Baranello G, Cesaretti C, Zambonin F, Casalone R, Granata P, Esposito S, Alfei E, Natacci F.

J Child Neurol. 2013 Nov;28(11):1463-1466. Epub 2013 Apr 22.

PMID:
23611886
9.

A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation.

Neetha J, Girisha KM, Gopinath PM, Sekhar MR.

Genet Couns. 2012;23(4):473-6.

PMID:
23431746
10.

Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.

Brandigi E, Molinaro F, Bulotta AL, Angotti R, Pavone M, Messina M.

Ital J Pediatr. 2013 Jan 23;39:6. doi: 10.1186/1824-7288-39-6. Review.

11.

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis.

Kohannim O, Peredo J, Dipple KM, Quintero-Rivera F.

Case Rep Genet. 2011;2011:131768. doi: 10.1155/2011/131768. Epub 2011 Dec 8.

12.

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation.

Vecchio D, Salzano E, Vecchio A, Roccella M.

Minerva Pediatr. 2012 Jun;64(3):365-7.

PMID:
22555332
13.

Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment.

Su PH, Lee IC, Yang SF, Ng YY, Liu CS, Chen JY.

Am J Med Genet A. 2012 Apr;158A(4):707-12. doi: 10.1002/ajmg.a.33943. Epub 2012 Mar 9.

PMID:
22407547
14.

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.

Oegema R, van Zutven LJ, van Hassel DA, Huijbregts GC, Hoogeboom AJ.

Eur J Med Genet. 2012 Apr;55(4):265-8. doi: 10.1016/j.ejmg.2012.01.015. Epub 2012 Feb 21.

PMID:
22406089
15.

Learning from chromosomal disorders: progress and prospects.

Skuse DH.

Curr Opin Neurol. 2012 Apr;25(2):103-5. doi: 10.1097/WCO.0b013e3283519a3b. No abstract available.

PMID:
22322418
16.

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.

Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Review.

PMID:
21964744
17.

Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.

Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M.

Pediatr Neurol. 2011 Oct;45(4):274-8. doi: 10.1016/j.pediatrneurol.2011.06.002.

PMID:
21907895
18.

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi MB, Ursini MV, Miano MG.

Hum Reprod. 2011 Nov;26(11):3186-96. doi: 10.1093/humrep/der266. Epub 2011 Aug 22.

19.

A rare case of monosomy 18p: translocation between chromosomes 18 and 21.

Tos T, Karaman A, Aycan Z, Tükün A.

Genet Couns. 2011;22(2):227-31.

PMID:
21848017
20.

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.

Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel HM, Schaller A, Gallati S, Conrad B.

Am J Med Genet A. 2011 Aug;155A(8):1964-8. doi: 10.1002/ajmg.a.33210. Epub 2011 Jul 7.

PMID:
21739569
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