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Items: 1 to 20 of 224

1.

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Killoran CE, Abbott M, McKusick VA, Biesecker LG.

Clin Genet. 2000 Jul;58(1):28-30.

PMID:
10945658
2.

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

Kang S, Graham JM Jr, Olney AH, Biesecker LG.

Nat Genet. 1997 Mar;15(3):266-8.

PMID:
9054938
3.

Pallister-Hall syndrome phenotype in mice mutant for Gli3.

Böse J, Grotewold L, Rüther U.

Hum Mol Genet. 2002 May 1;11(9):1129-35.

PMID:
11978771
4.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE.

Am J Hum Genet. 1999 Sep;65(3):645-55.

5.

[Pallister-Hall syndrome].

Oho Y, Okuyama T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):23-5. Review. Japanese. No abstract available.

PMID:
11057130
6.

Gonadal mosaicism in severe Pallister-Hall syndrome.

Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG.

Am J Med Genet A. 2004 Jan 30;124A(3):296-302. Erratum in: Am J Med Genet A. 2005 Jul 15;136(2):225.

PMID:
14708104
7.

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.

Shin SH, Kogerman P, Lindström E, Toftgárd R, Biesecker LG.

Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):2880-4.

8.

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.

Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B.

Am J Med Genet. 2001 Mar 1;99(2):128-31.

PMID:
11241471
9.

The molecular basis of Pallister Hall associated polydactyly.

Hill P, Wang B, Rüther U.

Hum Mol Genet. 2007 Sep 1;16(17):2089-96. Epub 2007 Jun 22.

PMID:
17588959
10.

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH.

Hum Mol Genet. 1999 Sep;8(9):1769-77.

PMID:
10441342
11.

Gene structure and allelic expression assay of the human GLI3 gene.

Kang S, Rosenberg M, Ko VD, Biesecker LG.

Hum Genet. 1997 Dec;101(2):154-7.

PMID:
9402960
12.

Gene symbol: GLI3. Disease: Pallister-Hall syndrome.

Freese K, Driess S, Bornholdt D, Shoenle EJ, Seidel H, Tinschert S, Grzeschik KH, Kalff-Suske M.

Hum Genet. 2003 Jan;112(1):103. No abstract available.

PMID:
12575661
13.

Gli 3 mutation in Pallister-Hall syndrome.

Stoll C, De Saint Martin A, Donato L, Alembik Y, Sauvage P, Messer J.

Genet Couns. 2002;13(1):69. No abstract available.

PMID:
12017244
14.

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D.

Am J Med Genet A. 2005 Aug 1;136A(4):390-4. Review.

PMID:
16007608
15.

Mutation in GLI3 in postaxial polydactyly type A.

Radhakrishna U, Wild A, Grzeschik KH, Antonarakis SE.

Nat Genet. 1997 Nov;17(3):269-71. No abstract available.

PMID:
9354785
16.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG.

Am J Hum Genet. 2005 Apr;76(4):609-22. Epub 2005 Feb 28.

17.
18.

Autosomal dominant transmission of the Pallister-Hall syndrome.

Topf KF, Kletter GB, Kelch RP, Brunberg JA, Biesecker LG.

J Pediatr. 1993 Dec;123(6):943-6.

PMID:
8229528
19.

[Hall syndrome (Pallister-Hall syndrome)].

Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T.

Nihon Rinsho. 2006 Sep 28;Suppl 3:591-3. Review. Japanese. No abstract available.

PMID:
17022615
20.

Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.

Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y.

Clin Genet. 2005 May;67(5):429-33.

PMID:
15811011

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