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Items: 1 to 20 of 122

1.

Behavioral management of a long-term survivor with tetrasomy 18p.

Swingle HM, Ringdahl J, Mraz R, Patil S, Keppler-Noreuil K.

Am J Med Genet A. 2006 Feb 1;140(3):276-80.

PMID:
16411237
2.

The natural history of trisomy 12p.

Segel R, Peter I, Demmer LA, Cowan JM, Hoffman JD, Bianchi DW.

Am J Med Genet A. 2006 Apr 1;140(7):695-703.

PMID:
16502429
3.

Constitutional tetrasomy 18p.

Bakshi SR, Brahmbhatt MM, Trivedi PJ, Chudoba I.

Indian Pediatr. 2006 Apr;43(4):357-60.

4.

Chromosome 18 aberrations and epilepsy: a review.

Grosso S, Pucci L, Di Bartolo RM, Gobbi G, Bartalini G, Anichini C, Scarinci R, Balestri M, Farnetani MA, Cioni M, Morgese G, Balestri P.

Am J Med Genet A. 2005 Apr 1;134A(1):88-94.

PMID:
15690352
5.

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.

Vermeulen SJ, Speleman F, Vanransbeeck L, Verspeet J, Menten B, Verschraegen-Spae MR, Wilde PD, Messiaen L, Michaelis RC, Leroy JG.

Eur J Hum Genet. 2005 Jan;13(1):52-8.

6.

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.

Brambila Tapia AJ, Figuera L, Vázquez Cárdenas NA, Ramírez Torres V, Vázquez Velázquez AI, García Contreras C, Ramírez Dueñas ML.

Genet Couns. 2010;21(3):277-83.

PMID:
20964117
7.

Tetrasomy 18p in a child with trisomy 18 phenotype.

Singer TS, Kohn G, Yatziv S.

Am J Med Genet. 1990 Jun;36(2):144-7.

PMID:
2368801
8.

Dystonia in a patient with deletion of 18p.

Tezzon F, Zanoni T, Passarin MG, Ferrari G.

Ital J Neurol Sci. 1998 Apr;19(2):90-3.

PMID:
10935843
9.

Tetrasomy 8 as a primary chromosomal abnormality in a child with acute megakaryoblastic leukemia. a case report and review of the literature.

Aktas D, Tuncbilek E, Cetin M, Hicsonmez G.

Cancer Genet Cytogenet. 2001 Apr 15;126(2):166-8. Review.

PMID:
11376811
10.

Isochromosome 18p in a mother and her child.

Abeliovich D, Dagan J, Levy A, Steinberg A, Zlotogora J.

Am J Med Genet. 1993 Jun 1;46(4):392-3.

PMID:
8357009
11.

Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review.

Grass FS, Parke JC Jr, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE.

Am J Med Genet. 1993 Nov 1;47(6):812-6. Review.

PMID:
7506483
12.

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.

Rochat MK, Riegel M, Schinzel AA.

Am J Med Genet A. 2007 Feb 15;143(4):399-408. Review.

PMID:
17230490
13.

Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.

Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD.

Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597.

PMID:
20803640
14.

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H.

Eur J Hum Genet. 2007 Jan;15(1):35-44. Epub 2006 Oct 4.

15.

Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.

Am J Med Genet A. 2006 Jun 1;140(11):1219-22.

PMID:
16652358
16.

Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.

Awaad Y, Munoz S, Nigro M.

J Child Neurol. 1999 Feb;14(2):75-7.

PMID:
10073426
17.

Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation.

Kleczkowska A, Fryns JP, Buttiens M, de Bisschop F, Emmery L, Van den Berghe H.

Clin Genet. 1986 Dec;30(6):503-8.

PMID:
3815883
18.

Psychiatric syndromes in individuals with chromosome 18 abnormalities.

Zavala J, Ramirez M, Medina R, Heard P, Carter E, Crandall A, Hale D, Cody J, Escamilla M.

Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):837-45. doi: 10.1002/ajmg.b.31047.

PMID:
19927307
19.

[Tetrasomy 18p syndrome and hearing loss. An unusual case].

Schwemmle C, Arslan-Kirchner M, Pabst B, Ptok M.

HNO. 2012 Oct;60(10):901-5. doi: 10.1007/s00106-011-2459-9. German.

PMID:
22733277
20.

Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).

Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.

In Vivo. 2006 Jul-Aug;20(4):473-8.

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