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The Greig cephalopolysyndactyly syndrome.

Biesecker LG.

Orphanet J Rare Dis. 2008 Apr 24;3:10. Review.PMID: 18435847 [PubMed - indexed for MEDLINE]Related articlesFree article

The clinical atlas of Greig cephalopolysyndactyly syndrome.

Balk K, Biesecker LG.

Am J Med Genet A. 2008 Mar 1;146A(5):548-57.PMID: 18241058 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 15739154 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG.

Am J Med Genet A. 2003 Dec 15;123A(3):236-42.PMID: 14608643 [PubMed - indexed for MEDLINE]Related articles

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.

Vortkamp A, Gessler M, Grzeschik KH.

Nature. 1991 Aug 8;352(6335):539-40.PMID: 1650914 [PubMed - indexed for MEDLINE]Related articles

Point mutations in human GLI3 cause Greig syndrome.

Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, König R, Grzeschik KH.

Hum Mol Genet. 1997 Oct;6(11):1979-84.PMID: 9302279 [PubMed - indexed for MEDLINE]Related articlesFree article

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

Debeer P, Devriendt K, De Smet L, Deravel T, Gonzalez-Meneses A, Grzeschik KH, Fryns JP.

J Child Orthop. 2007 Jul;1(2):143-50. Epub 2007 May 10.PMID: 19308487 [PubMed - in process]Related articlesFree article

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.

Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE.

Genes Chromosomes Cancer. 2005 Jan;42(1):82-6.PMID: 15390181 [PubMed - indexed for MEDLINE]Related articles

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.

Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M.

J Neurosurg. 2007 Dec;107(6 Suppl):495-9.PMID: 18154020 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

Elson E, Perveen R, Donnai D, Wall S, Black GC.

J Med Genet. 2002 Nov;39(11):804-6.PMID: 12414818 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.

Johnston JJ, Walker RL, Davis S, Facio F, Turner JT, Bick DP, Daentl DL, Ellison JW, Meltzer PS, Biesecker LG.

J Med Genet. 2007 Jan;44(1):e59. Epub 2006 Nov 10.PMID: 17098889 [PubMed - indexed for MEDLINE]Related articlesFree article

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M.

Am J Med Genet A. 2003 Jul 1;120A(1):49-58.PMID: 12794692 [PubMed - indexed for MEDLINE]Related articles

A Turkish family with Greig cephalopolysyndactyly syndrome.

Boduroğlu K, Balci S, Topçu M.

Turk J Pediatr. 1999 Apr-Jun;41(2):259-65.PMID: 10770668 [PubMed - indexed for MEDLINE]Related articles

Greig cephalopolysyndactyly syndrome in a family.

Wang CH, Tsai FJ, Shi YR.

Acta Paediatr Taiwan. 2006 Mar-Apr;47(2):95-9.PMID: 16927636 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10441570 [PubMed - indexed for MEDLINE]Related articlesFree article

Point mutations in GLI3 lead to misregulation of its subcellular localization.

Krauss S, So J, Hambrock M, Köhler A, Kunath M, Scharff C, Wessling M, Grzeschik KH, Schneider R, Schweiger S.

PLoS One. 2009 Oct 15;4(10):e7471.PMID: 19829694 [PubMed - indexed for MEDLINE]Related articlesFree article

Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.

Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M.

Clin Genet. 1997 Dec;52(6):436-41.PMID: 9520255 [PubMed - indexed for MEDLINE]Related articles