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Items: 1 to 20 of 129

1.

Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.

Chaouachi S, Ben Hamida E, Ennine I, Chaabouni M, Sfar R, Chaabouni H, Marrakchi Z.

Tunis Med. 2010 Aug;88(8):614-6.

2.

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

McLeod DR, Wesselman LR, Hoar DI.

J Med Genet. 1991 Aug;28(8):541-3. Review.

3.

Pallister-Killian and Fryns syndromes: nosology.

McPherson EW, Ketterer DM, Salsburey DJ.

Am J Med Genet. 1993 Aug 15;47(2):241-5.

PMID:
8213912
4.

Pallister-Killian and Fryns syndromes.

Stratton RF, Moore CM, Popham CS, DuPont BR, Mattern VL.

Am J Med Genet. 1994 May 15;51(1):90. No abstract available.

PMID:
8030681
5.

Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point.

Choo S, Teo SH, Tan M, Yong MH, Ho LY.

J Perinatol. 2002 Jul-Aug;22(5):420-3.

6.

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
7.

Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.

Rodríguez JI, Garcia I, Alvarez J, Delicado A, Palacios J.

Am J Med Genet. 1994 Nov 1;53(2):176-81.

PMID:
7856644
8.

Pallister-Killian syndrome: report of one case.

Wu HC, Lin LH, Tsai LP, Huang CH, Hung KL, Liao HT.

Acta Paediatr Taiwan. 2006 May-Jun;47(3):139-41.

PMID:
17078467
10.

Bilateral congenital diaphragmatic hernia: Differentiation between Pallister-Killian and Fryns syndromes.

Veldman A, Schlösser R, Allendorf A, Fischer D, Heller K, Schaeff B, Fuchs S.

Am J Med Genet. 2002 Jul 22;111(1):86-7. No abstract available.

PMID:
12124742
11.

Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2.

Clark RD, Fenner-Gonzales M.

Am J Med Genet. 1989 Nov;34(3):422-6.

PMID:
2596530
12.

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
13.

Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.

Raffel LJ, Mohandas T, Rimoin DL.

Am J Med Genet. 1986 Aug;24(4):607-11.

PMID:
3740095
14.

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
15.

[Fryns syndrome. Report on 3 new cases].

Alessandri JL, Attali T, Brayer C, Dupuy L, Pilorget H, Ramful D, Samperiz S, Tiran-Rajaofera I, Robin S.

Arch Pediatr. 2007 Jul;14(7):903-7. Epub 2007 Apr 17. French.

PMID:
17442547
16.

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
17.

Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.

Moro MA, Sanna R, Cambosu F, Soro G, Dessole S, Montella A, Capobianco G.

Clin Exp Obstet Gynecol. 2014;41(4):483-5.

PMID:
25134307
18.

Clinical variability of tetrasomy 12p.

Schaefer GB, Jochar A, Muneer R, Sanger WG.

Clin Genet. 1997 Feb;51(2):102-8.

PMID:
9111997
19.

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
20.

Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.

Shamdeen A, Meyer S, Gottschling S, Oehl-Jaschkowitz B, Gortner L, Shamdeen MG.

Klin Padiatr. 2009 Mar-Apr;221(2):97-9. doi: 10.1055/s-0028-1086019. Epub 2008 Dec 9.

PMID:
19067289

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