-
1
-
-
0029073125
-
A large Turkish kindred with syndactyly type II(synpolydactyly). 1. Field investigation, clinical and pedigree data
-
Sayli BS, Akarsu AN, Sayli U et al. A large Turkish kindred with syndactyly type II(synpolydactyly). 1. Field investigation, clinical and pedigree data. J Med Genet 1995: 32(6): 421-434.
-
(1995)
J Med Genet
, vol.32
, Issue.6
, pp. 421-434
-
-
Sayli, B.S.1
Akarsu, A.N.2
Sayli, U.3
-
2
-
-
12644284524
-
Synpoly-dactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
-
Goodman FR, Mundlos S, Muragaki Y et al. Synpoly-dactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A 1997: 94(14): 7458-7463.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, Issue.14
, pp. 7458-7463
-
-
Goodman, F.R.1
Mundlos, S.2
Muragaki, Y.3
-
4
-
-
27444443759
-
A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
-
Kjaer KW, Hansen L, Eiberg H et al. A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am J Med Genet A 2005: 138(4): 328-339.
-
(2005)
Am J Med Genet A
, vol.138
, Issue.4
, pp. 328-339
-
-
Kjaer, K.W.1
Hansen, L.2
Eiberg, H.3
-
5
-
-
38949154565
-
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2-alanine residues is without clinical consequences
-
(in press)
-
Malik S, Girisha KM, Wajid M et al. Synpolydactyly and HOXD13 polyalanine repeat: addition of 2-alanine residues is without clinical consequences. BMC Med Genet 2007 (in press).
-
(2007)
BMC Med Genet
-
-
Malik, S.1
Girisha, K.M.2
Wajid, M.3
-
6
-
-
0029127807
-
Localization of the syndactyly type II(synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
-
Sarfarazi M, Akarsu AN, Sayli BS. Localization of the syndactyly type II(synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Mol Genet 1995: 4(8): 1453-1458.
-
(1995)
Hum Mol Genet
, vol.4
, Issue.8
, pp. 1453-1458
-
-
Sarfarazi, M.1
Akarsu, A.N.2
Sayli, B.S.3
-
7
-
-
0036171086
-
The fibulin-1 gene(FBLN1) is disrupted in a t(12; 22) associated with a complex type of synpolydactyly
-
Debeer P, Schoenmakers EF, Twal WO et al. The fibulin-1 gene(FBLN1) is disrupted in a t(12; 22) associated with a complex type of synpolydactyly. J Med Genet 2002: 39(2): 98-104.
-
(2002)
J Med Genet
, vol.39
, Issue.2
, pp. 98-104
-
-
Debeer, P.1
Schoenmakers, E.F.2
Twal, W.O.3
-
8
-
-
33646770948
-
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12
-
Malik S, Abbasi AA, Ansar M et al. Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. Clin Genet 2006: 69(6): 518-524.
-
(2006)
Clin Genet
, vol.69
, Issue.6
, pp. 518-524
-
-
Malik, S.1
Abbasi, A.A.2
Ansar, M.3
-
9
-
-
0029003180
-
A large Turkish kindred with syndactyly type II(synpolydactyly). 2. Homo- zygous phenotype?
-
Akarsu AN, Akhan O, Sayli BS et al. A large Turkish kindred with syndactyly type II(synpolydactyly). 2. Homo- zygous phenotype? J Med Genet 1995: 32(6): 435-441.
-
(1995)
J Med Genet
, vol.32
, Issue.6
, pp. 435-441
-
-
Akarsu, A.N.1
Akhan, O.2
Sayli, B.S.3
-
10
-
-
0001359387
-
Mapping of the second locus of postaxial polydactyly type A(PAP-A2) to chromosome 13q21-q32
-
(Abstract)
-
Akarsu AN, Ozbas F, Kostakoglu N. Mapping of the second locus of postaxial polydactyly type A(PAP-A2) to chromosome 13q21-q32. Am J Hum Genet 1997: 61(Suppl.): A265(Abstract).
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
-
-
Akarsu, A.N.1
Ozbas, F.2
Kostakoglu, N.3
-
11
-
-
0032231318
-
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
-
Goodman F, Giovannucci-Uzielli ML, Hall C et al. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet 1998: 63(4): 992-1000.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.4
, pp. 992-1000
-
-
Goodman, F.1
Giovannucci-Uzielli, M.L.2
Hall, C.3
-
12
-
-
0029901276
-
Cenani-Lenz syndrome in father and daughter
-
De Smet L, De Beer P, Fryns JP. Cenani-Lenz syndrome in father and daughter. Genet Couns 1996: 7(2): 153-157.
-
(1996)
Genet Couns
, vol.7
, Issue.2
, pp. 153-157
-
-
De Smet, L.1
De Beer, P.2
Fryns, J.P.3
-
13
-
-
33749480931
-
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion
-
Horsnell K, Ali M, Malik S et al. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. Eur J Med Genet 2006: 49(5): 396-401.
-
(2006)
Eur J Med Genet
, vol.49
, Issue.5
, pp. 396-401
-
-
Horsnell, K.1
Ali, M.2
Malik, S.3
-
14
-
-
30744468628
-
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31
-
Malik S, Schott J, Ali SW et al. Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. Eur J Hum Genet 2005: 13(12): 1268-1274.
-
(2005)
Eur J Hum Genet
, vol.13
, Issue.12
, pp. 1268-1274
-
-
Malik, S.1
Schott, J.2
Ali, S.W.3
-
16
-
-
27144560243
-
A simple method for characterising syndactyly in clinical practice
-
Malik S, Ahmad W, Grzeschik KH et al. A simple method for characterising syndactyly in clinical practice. Genet Couns 2005: 16(3): 229-238.
-
(2005)
Genet Couns
, vol.16
, Issue.3
, pp. 229-238
-
-
Malik, S.1
Ahmad, W.2
Grzeschik, K.H.3
-
17
-
-
0037097402
-
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg
-
Kjaer KW, Hedeboe J, Bugge M et al. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet 2002: 110(2): 116-121.
-
(2002)
Am J Med Genet
, vol.110
, Issue.2
, pp. 116-121
-
-
Kjaer, K.W.1
Hedeboe, J.2
Bugge, M.3
-
18
-
-
0029871929
-
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
-
Muragaki Y, Mundlos S, Upton J et al. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996: 272(5261): 548-551.
-
(1996)
Science
, vol.272
, Issue.5261
, pp. 548-551
-
-
Muragaki, Y.1
Mundlos, S.2
Upton, J.3
-
19
-
-
0031851734
-
Co-segregation of an apparently balanced reciprocal t(12: 22)(p11.2: q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members
-
Debeer P, Schoenmakers EF, De Smet L et al. Co-segregation of an apparently balanced reciprocal t(12: 22)(p11.2: q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members. Clin Dysmorphol 1998: 7(3): 225-228.
-
(1998)
Clin Dysmorphol
, vol.7
, Issue.3
, pp. 225-228
-
-
Debeer, P.1
Schoenmakers, E.F.2
De Smet, L.3
-
20
-
-
0031666281
-
Physical mapping of the t(12: 22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly
-
Debeer P, Schoenmakers EF, Thoelen R et al. Physical mapping of the t(12: 22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly. Cytogenet Cell Genet 1998: 81(3-4): 229-234.
-
(1998)
Cytogenet Cell Genet
, vol.81
, Issue.3-4
, pp. 229-234
-
-
Debeer, P.1
Schoenmakers, E.F.2
Thoelen, R.3
-
21
-
-
84969046555
-
Einige Eigentümlichkeiten der erblichen Polyund Syndaktylie bei Menschen
-
Thomsen O. Einige Eigentümlichkeiten der erblichen Polyund Syndaktylie bei Menschen. Acta Med Scand 1927: 65: 609-644.
-
(1927)
Acta Med Scand
, vol.65
, pp. 609-644
-
-
Thomsen, O.1
-
22
-
-
0010696310
-
Zygodactyly and associated variations in a Utah family
-
Alvord RM. Zygodactyly and associated variations in a Utah family. J Hered 1947: 38: 49-53.
-
(1947)
J Hered
, vol.38
, pp. 49-53
-
-
Alvord, R.M.1
-
23
-
-
84864118959
-
On syndactylies and its association with polydactyly
-
Bell J, ed Cambridge: University Press
-
Bell J. On syndactylies and its association with polydactyly. In: Bell J, ed. The treasury of human inheritance. Cambridge: University Press, 1953: 30-50.
-
(1953)
The treasury of human inheritance
, pp. 30-50
-
-
Bell, J.1
-
24
-
-
30744440494
-
Syndaktylien
-
Becker PE, ed Stuttgart: Georg Thieme Verlag
-
Grebe H. Syndaktylien. In: Becker PE, ed. Humangenetik Ein kurzes handbuch in fünf bänden. Stuttgart: Georg Thieme Verlag, 1964: 297-304.
-
(1964)
Humangenetik Ein kurzes handbuch in fünf bänden
, pp. 297-304
-
-
Grebe, H.1
-
26
-
-
0012800807
-
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
-
Caronia G, Goodman FR, McKeown CM et al. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development 2003: 130(8): 1701-1712.
-
(2003)
Development
, vol.130
, Issue.8
, pp. 1701-1712
-
-
Caronia, G.1
Goodman, F.R.2
McKeown, C.M.3
-
27
-
-
0041321415
-
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
-
Kan SH, Johnson D, Giele H et al. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet 2003: 121A(1): 69-74.
-
(2003)
Am J Med Genet
, vol.121 A
, Issue.1
, pp. 69-74
-
-
Kan, S.H.1
Johnson, D.2
Giele, H.3
-
28
-
-
8644268956
-
Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly
-
Kuru I, Samli H, Yucel A et al. Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly. J Hand Surg [Br] 2004: 29(6): 614-620.
-
(2004)
J Hand Surg [Br]
, vol.29
, Issue.6
, pp. 614-620
-
-
Kuru, I.1
Samli, H.2
Yucel, A.3
-
29
-
-
0032902095
-
Hox genes in digit development and evolution
-
Zakany J, Duboule D. Hox genes in digit development and evolution. Cell Tissue Res 1999: 296(1): 19-25.
-
(1999)
Cell Tissue Res
, vol.296
, Issue.1
, pp. 19-25
-
-
Zakany, J.1
Duboule, D.2
-
30
-
-
34249275353
-
Phenotypic plasticity and the epigenetics of human disease
-
Feinberg AP. Phenotypic plasticity and the epigenetics of human disease. Nature 2007: 447(7143): 433-440.
-
(2007)
Nature
, vol.447
, Issue.7143
, pp. 433-440
-
-
Feinberg, A.P.1
-
31
-
-
0035159735
-
Human HOX gene mutations
-
Goodman FR, Scambler PJ. Human HOX gene mutations. Clin Genet 2001: 59(1): 1-11.
-
(2001)
Clin Genet
, vol.59
, Issue.1
, pp. 1-11
-
-
Goodman, F.R.1
Scambler, P.J.2
-
32
-
-
0037383834
-
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
-
Johnson D, Kan SH, Oldridge M et al. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 2003: 72(4): 984-1897.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.4
, pp. 984-1897
-
-
Johnson, D.1
Kan, S.H.2
Oldridge, M.3
-
33
-
-
33846641577
-
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
-
Zhao X, Sun M, Zhao J et al. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 2007: 80(2): 361-371.
-
(2007)
Am J Hum Genet
, vol.80
, Issue.2
, pp. 361-371
-
-
Zhao, X.1
Sun, M.2
Zhao, J.3
-
34
-
-
0022512187
-
Type II syndactyly or synpoly-dactyly
-
Merlob P, Grunebaum M. Type II syndactyly or synpoly-dactyly. J Med Genet 1986: 23(3): 237-241.
-
(1986)
J Med Genet
, vol.23
, Issue.3
, pp. 237-241
-
-
Merlob, P.1
Grunebaum, M.2
|