Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 121

1.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID.

Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20.

PMID:
23169773
[PubMed - indexed for MEDLINE]
2.

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard.

Hodge JC, Hulshizer RL, Seger P, St Antoine A, Bair J, Kirmani S.

Am J Med Genet A. 2012 Mar;158A(3):669-73. doi: 10.1002/ajmg.a.35209. Epub 2012 Feb 7.

PMID:
22315202
[PubMed - indexed for MEDLINE]
3.

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID.

Am J Med Genet A. 2012 Dec;158A(12):3033-45. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20.

PMID:
23169682
[PubMed - indexed for MEDLINE]
4.

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, Bejjani BA, Ballif BC, Shaffer LG.

Am J Med Genet A. 2009 May;149A(5):914-8. doi: 10.1002/ajmg.a.32767.

PMID:
19353629
[PubMed - indexed for MEDLINE]
5.

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID.

Am J Med Genet A. 2012 Dec;158A(12):3002-17. doi: 10.1002/ajmg.a.35722. Epub 2012 Nov 20.

PMID:
23169767
[PubMed - indexed for MEDLINE]
6.

An Indian boy with additional features in Pallister-Killian syndrome.

Shah K, George R, Balla ES, Oommen SP, Padankatti CS, Srivastava VM, Danda S.

Indian J Pediatr. 2012 Sep;79(9):1238-40. doi: 10.1007/s12098-011-0585-8. Epub 2011 Oct 20.

PMID:
22012142
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.

Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, Jaroshevich E, Khurs O, Pisarik I, Pribushenya O, Rumyantseva N, Naumchik I.

J Histochem Cytochem. 2005 Mar;53(3):361-4.

PMID:
15750020
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
11.

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

Smigiel R, Pilch J, Makowska I, Busza H, Slezak R, Sasiadek MM.

Eur J Pediatr. 2008 Sep;167(9):1063-5. Epub 2007 Nov 14.

PMID:
18000682
[PubMed - indexed for MEDLINE]
12.

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.

Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G.

Am J Med Genet. 1997 Oct 3;72(1):106-10.

PMID:
9295085
[PubMed - indexed for MEDLINE]
13.

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM.

Am J Med Genet A. 2009 Mar;149A(3):510-4. doi: 10.1002/ajmg.a.32681.

PMID:
19215056
[PubMed - indexed for MEDLINE]
14.
15.

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
[PubMed - indexed for MEDLINE]
16.

Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.

Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M.

Am J Med Genet A. 2012 Dec;158A(12):3018-25. doi: 10.1002/ajmg.a.35670. Epub 2012 Nov 20.

PMID:
23169763
[PubMed - indexed for MEDLINE]
17.

Pallister-Killian syndrome: meiosis II non-disjunction may be the first step in the formation of isochromosome 12p.

Shen JD, Liang DS, Zhou ZM, Xia Y, Long ZG, Wu LQ.

Chin Med J (Engl). 2010 Dec;123(23):3482-5. No abstract available.

PMID:
22166535
[PubMed - indexed for MEDLINE]
18.

Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.

Powis Z, Kang SH, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP.

Am J Med Genet A. 2007 Dec 15;143A(24):2910-5.

PMID:
18000900
[PubMed - indexed for MEDLINE]
19.

The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

Mowery-Rushton PA, Stadler MP, Kochmar SJ, McPherson E, Surti U, Hogge WA.

Prenat Diagn. 1997 Mar;17(3):255-65.

PMID:
9110370
[PubMed - indexed for MEDLINE]
20.

Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome.

Reeser SL, Wenger SL.

Am J Med Genet. 1992 Apr 1;42(6):815-9.

PMID:
1554020
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk