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Items: 1 to 20 of 97

2.

Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.

Plaja A, Mediano C, Farran I, Vendrell T, Toran N, Gili T, Sanchez MA, Sarret E.

Ann Genet. 1998;41(1):52-5.

PMID:
9599652
3.

Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature.

Fryns JP, Kleczkowska A, Van den Berghe H.

Ann Genet. 1990;33(1):43-5. Review.

PMID:
2195980
4.

Skeletal anomalies in a patient with the Pallister/Teschler-Nicola/Killian syndrome.

Kawashima H.

Am J Med Genet. 1987 Jun;27(2):285-9. Erratum in: Am J Med Genet 1987 Oct;28(2):527.

PMID:
3605214
5.

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
6.

[Pallister-Killian syndrome and 12p tetrasomy: increased LDH-B activity].

Antich Femenias J, Briones Godino MP, Vilaseca Busca MA, Girós Blasco ML, Campos Castelló J, Jaume Roig B, Clusellas Casals N.

An Esp Pediatr. 1991 Jun;34(6):459-62. Review. Spanish. No abstract available.

PMID:
1929015
7.

Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome).

Zakowski MF, Wright Y, Ricci A Jr.

Am J Med Genet. 1992 Feb 1;42(3):323-5.

PMID:
1536171
8.
10.

A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained from the patient.

Takakuwa K, Hataya I, Arakawa M, Tamura M, Sekizuka N, Tanaka K.

Am J Perinatol. 1997 Nov;14(10):641-3.

PMID:
9605253
11.

A case of de novo trisomy 12p syndrome.

Ray M, Chudley AE, Christie N, Seargeant L.

Ann Genet. 1985;28(4):235-8.

PMID:
3879436
12.

Cytogenetic and molecular analysis in trisomy 12p.

Allen TL, Brothman AR, Carey JC, Chance PF.

Am J Med Genet. 1996 May 3;63(1):250-6. Review.

PMID:
8723118
13.

Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.

Shapiro SD, Hansen KL, Littlefield CA.

Am J Med Genet. 1985 Feb;20(2):271-6.

PMID:
3976720
14.

Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

Yeung A, Francis D, Giouzeppos O, Amor DJ.

Am J Med Genet A. 2009 Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664.

PMID:
19215037
15.

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Leube B, Majewski F, Gebauer J, Royer-Pokora B.

Am J Med Genet A. 2003 Dec 15;123A(3):296-300.

PMID:
14608653
16.

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, et al.

Am J Med Genet. 1987 Jun;27(2):257-74.

PMID:
3605212
17.

Mosaic isochromosome 12p.

Pauli RM, Zeier RA, Sekhon GS.

Am J Med Genet. 1987 Jun;27(2):291-4. No abstract available.

PMID:
3605215
18.

Diaphragmatic hernia in tetrasomy 12p mosaicism.

Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH.

J Pediatr. 1993 Apr;122(4):603-6.

PMID:
8463911
19.

Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.

Los FJ, Van Opstal D, Schol MP, Gaillard JL, Brandenburg H, Van Den Ouweland AM, in 't Veld PA.

Prenat Diagn. 1995 Dec;15(12):1155-9.

PMID:
8750296
20.

A case of de novo i(12p) with 12q whole-arm translocation mosaicism.

Marques-de-Faria AP, Hackel C.

Am J Med Genet. 1989 Aug;33(4):453-6.

PMID:
2596503
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