131 related articles for article (PubMed ID: 10678662)
1. Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
Sobetzko D; Eich G; Kalff-Suske M; Grzeschik KH; Superti-Furga A
Am J Med Genet; 2000 Jan; 90(3):239-42. PubMed ID: 10678662
[TBL] [Abstract][Full Text] [Related]
2. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
Kang S; Graham JM; Olney AH; Biesecker LG
Nat Genet; 1997 Mar; 15(3):266-8. PubMed ID: 9054938
[TBL] [Abstract][Full Text] [Related]
3. Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region.
Vortkamp A; Gessler M; Le Paslier D; Elaswarapu R; Smith S; Grzeschik KH
Genomics; 1994 Aug; 22(3):563-8. PubMed ID: 8001967
[TBL] [Abstract][Full Text] [Related]
4. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.
Vortkamp A; Gessler M; Grzeschik KH
Nature; 1991 Aug; 352(6335):539-40. PubMed ID: 1650914
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15811011
[TBL] [Abstract][Full Text] [Related]
6. [Greig cephalopolysyndactyly syndrome].
Satokata I
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):184-6. PubMed ID: 11057189
[No Abstract] [Full Text] [Related]
7. Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
Naruse I; Ueta E; Sumino Y; Ogawa M; Ishikiriyama S
Congenit Anom (Kyoto); 2010 Mar; 50(1):1-7. PubMed ID: 20201963
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 9302279
[TBL] [Abstract][Full Text] [Related]
9. [Pallister-Hall syndrome].
Oho Y; Okuyama T
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):23-5. PubMed ID: 11057130
[No Abstract] [Full Text] [Related]
10. Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt).
Vortkamp A; Franz T; Gessler M; Grzeschik KH
Mamm Genome; 1992; 3(8):461-3. PubMed ID: 1322743
[No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 15390181
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12414818
[TBL] [Abstract][Full Text] [Related]
13. GLI3 is not mutated commonly in sporadic medulloblastomas.
Erez A; Ilan T; Amariglio N; Muler I; Brok-Simoni F; Rechavi G; Izraeli S
Cancer; 2002 Jul; 95(1):28-31. PubMed ID: 12115313
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 10441342
[TBL] [Abstract][Full Text] [Related]
15. Achondroplasia is not caused by mutation in the gene for type II collagen.
Francomano CA; Pyeritz RE
Am J Med Genet; 1988 Apr; 29(4):955-61. PubMed ID: 2899976
[TBL] [Abstract][Full Text] [Related]
16. Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.
Beighton P; Cilliers HJ; Ramesar R
Am J Med Genet; 1994 Dec; 53(4):348-51. PubMed ID: 7864044
[TBL] [Abstract][Full Text] [Related]
17. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
Anderson IJ; Tsipouras P; Scher C; Ramesar RS; Martell RW; Beighton P
Am J Med Genet; 1990 Oct; 37(2):272-6. PubMed ID: 1978986
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 15739154
[TBL] [Abstract][Full Text] [Related]
19. Mutation in GLI3 in postaxial polydactyly type A.
Radhakrishna U; Wild A; Grzeschik KH; Antonarakis SE
Nat Genet; 1997 Nov; 17(3):269-71. PubMed ID: 9354785
[No Abstract] [Full Text] [Related]
20. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
Borozdin W; Steinmann K; Albrecht B; Bottani A; Devriendt K; Leipoldt M; Kohlhase J
Hum Mutat; 2006 Feb; 27(2):211-2. PubMed ID: 16429401
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]