-
1
-
-
33745261812
-
GLI3 and the Pallister-Hall and Greig cephalopolysyndactyly syndromes
-
Epstein CJ, Erickson RP, Wynshaw-Boris A, editors, Oxford: Oxford University Press. p
-
Biesecker LG. 2004. GLI3 and the Pallister-Hall and Greig cephalopolysyndactyly syndromes. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. Oxford: Oxford University Press. p 257-264.
-
(2004)
Inborn errors of development: The molecular basis of clinical disorders of morphogenesis
, pp. 257-264
-
-
Biesecker, L.G.1
-
2
-
-
33745247359
-
What you can learn from one gene: G LI3
-
Biesecker LG. 2006. What you can learn from one gene: G LI3. J Med Genet 43:465-469.
-
(2006)
J Med Genet
, vol.43
, pp. 465-469
-
-
Biesecker, L.G.1
-
3
-
-
10744226332
-
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. 2003. Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet Part A 120A:49-58.
-
(2003)
Am J Med Genet
, vol.120 A
, Issue.PART A
, pp. 49-58
-
-
Debeer, P.1
Peeters, H.2
Driess, S.3
De Smet, L.4
Freese, K.5
Matthijs, G.6
Bornholdt, D.7
Devriendt, K.8
Grzeschik, K.H.9
Fryns, J.P.10
Kalff-Suske, M.11
-
5
-
-
0036850976
-
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. 2002. De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39:804-806.
-
(2002)
J Med Genet
, vol.39
, pp. 804-806
-
-
Elson, E.1
Perveen, R.2
Donnai, D.3
Wall, S.4
Black, G.C.5
-
6
-
-
34547713178
-
The polydactylies
-
Stevenson RE, Hall JG, editors, Oxford: Oxford University Press. p
-
Everman D. 2006. The polydactylies. In: Stevenson RE, Hall JG, editors. Human malformations and related anomalies. Oxford: Oxford University Press. p 937-953.
-
(2006)
Human malformations and related anomalies
, pp. 937-953
-
-
Everman, D.1
-
7
-
-
4243812288
-
The oral facial digital syndromes
-
Gorlin RJ, Cohen MM Jr, Hennekam RCM, editors, 4th edition. Oxford: Oxford University Press
-
Gorlin RJ, Cohen MM Jr, Hennekam RCM. 2001. The oral facial digital syndromes. In: Gorlin RJ, Cohen MM Jr, Hennekam RCM, editors. Syndromes of the head and neck. 4th edition. Oxford: Oxford University Press.
-
(2001)
Syndromes of the head and neck
-
-
Gorlin, R.J.1
Cohen Jr, M.M.2
Hennekam, R.C.M.3
-
8
-
-
0001191997
-
Oxycephaly
-
Greig DM. 1926. Oxycephaly. Edinb Med J 33:189-218.
-
(1926)
Edinb Med J
, vol.33
, pp. 189-218
-
-
Greig, D.M.1
-
10
-
-
0344896689
-
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. 2003. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet Part A 123A:236-242.
-
(2003)
Am J Med Genet
, vol.123 A
, Issue.PART A
, pp. 236-242
-
-
Johnston, J.J.1
Olivos-Glander, I.2
Turner, J.3
Aleck, K.4
Bird, L.M.5
Mehta, L.6
Schimke, R.N.7
Heilstedt, H.8
Spence, J.E.9
Blancato, J.10
Biesecker, L.G.11
-
11
-
-
20144387269
-
-
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. 2005. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-622.
-
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. 2005. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-622.
-
-
-
-
12
-
-
33846908822
-
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
-
Johnston J, Walker R, Davis S, Facio F, Turner J, Bick D, Daentl D, Ellison J, Meltzer P, Biesecker L. 2007. Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. J Med Genet 44:e59.
-
(2007)
J Med Genet
, vol.44
-
-
Johnston, J.1
Walker, R.2
Davis, S.3
Facio, F.4
Turner, J.5
Bick, D.6
Daentl, D.7
Ellison, J.8
Meltzer, P.9
Biesecker, L.10
-
13
-
-
0031019090
-
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
-
Kang S, Graham JM Jr, Olney AH, Biesecker LG. 1997. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet 15:266-268.
-
(1997)
Nature Genet
, vol.15
, pp. 266-268
-
-
Kang, S.1
Graham Jr, J.M.2
Olney, A.H.3
Biesecker, L.G.4
-
14
-
-
0035882364
-
Phenotype of five patients with Greig syndrome and microdeletion of 7p13
-
Kroisel PM, Petek E, Wagner K. 2001. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet 102:243-249.
-
(2001)
Am J Med Genet
, vol.102
, pp. 243-249
-
-
Kroisel, P.M.1
Petek, E.2
Wagner, K.3
-
15
-
-
0031018457
-
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis
-
Radhakrishna U, Blouin J-L, Mehenni H, Patel UC, Patel MN, Solanki JV, Antonarakis SE. 1997a. Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet 60:597-604.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 597-604
-
-
Radhakrishna, U.1
Blouin, J.-L.2
Mehenni, H.3
Patel, U.C.4
Patel, M.N.5
Solanki, J.V.6
Antonarakis, S.E.7
-
17
-
-
0033362154
-
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. 1999. 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. Am J Hum Genet 65:645-655.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 645-655
-
-
Radhakrishna, U.1
Bornholdt, D.2
Scott, H.S.3
Patel, U.C.4
Rossier, C.5
Engel, H.6
Bottani, A.7
Chandal, D.8
Blouin, J.L.9
Solanki, J.V.10
Grzeschik, K.H.11
Antonarakis, S.E.12
-
18
-
-
0027062850
-
Acro-fronto-facio- nasal dysostosis: Report of a new Brazilian family
-
Richieri-Costa A, Guion-Almeida ML, Pagnan NA. 1992. Acro-fronto-facio- nasal dysostosis: Report of a new Brazilian family. Am J Med Genet 44:800-802.
-
(1992)
Am J Med Genet
, vol.44
, pp. 800-802
-
-
Richieri-Costa, A.1
Guion-Almeida, M.L.2
Pagnan, N.A.3
-
19
-
-
0025812172
-
GLI3 zinc finger gene interrupted by translocations in Greig syndrome families
-
Vortkamp A, Gessler M, Grzeschik K-H. 1991. GLI3 zinc finger gene interrupted by translocations in Greig syndrome families. Nature 352:539-540.
-
(1991)
Nature
, vol.352
, pp. 539-540
-
-
Vortkamp, A.1
Gessler, M.2
Grzeschik, K.-H.3
-
20
-
-
0024243968
-
Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt-extra toes)
-
Winter RM, Huson SM. 1988. Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt-extra toes). Am J Med Genet 31:793-798.
-
(1988)
Am J Med Genet
, vol.31
, pp. 793-798
-
-
Winter, R.M.1
Huson, S.M.2
|