-
1
-
-
33846828781
-
Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
-
Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. 2007. Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A 143A:241-247.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 241-247
-
-
Cavalcanti, D.P.1
Matejas, V.2
Luquetti, D.3
Mello, M.F.4
Zenker, M.5
-
2
-
-
33644899727
-
Prenatal death in Fraser syndrome
-
Comstock JM, Putnam AR, Opitz JM, Pysher TJ, Szakacs J. 2005. Prenatal death in Fraser syndrome. Fetal Pediatr Pathol 24:223-238.
-
(2005)
Fetal Pediatr Pathol
, vol.24
, pp. 223-238
-
-
Comstock, J.M.1
Putnam, A.R.2
Opitz, J.M.3
Pysher, T.J.4
Szakacs, J.5
-
3
-
-
84981807786
-
Our genetic 'load'. A review of some aspects of genetic variation
-
Fraser GR. 1962. Our genetic 'load'. A review of some aspects of genetic variation. Ann Hum Genet 25:387-415.
-
(1962)
Ann Hum Genet
, vol.25
, pp. 387-415
-
-
Fraser, G.R.1
-
4
-
-
0034213578
-
Cell-substrate interactions during sea urchin gastrulation: Migrating primary mesenchyme cells interact with and align extracellular matrix fibers that contain ECM3, a molecule with NG2-like and multiple calcium-binding domains
-
Hodor PG, Illies MR, Broadley S, Ettensohn CA. 2000. Cell-substrate interactions during sea urchin gastrulation: Migrating primary mesenchyme cells interact with and align extracellular matrix fibers that contain ECM3, a molecule with NG2-like and multiple calcium-binding domains. Dev Biol 222:181-194.
-
(2000)
Dev Biol
, vol.222
, pp. 181-194
-
-
Hodor, P.G.1
Illies, M.R.2
Broadley, S.3
Ettensohn, C.A.4
-
5
-
-
20944448235
-
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
-
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez AA, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. 2005. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37:520-525.
-
(2005)
Nat Genet
, vol.37
, pp. 520-525
-
-
Jadeja, S.1
Smyth, I.2
Pitera, J.E.3
Taylor, M.S.4
van Haelst, M.5
Bentley, E.6
McGregor, L.7
Hopkins, J.8
Chalepakis, G.9
Philip, N.10
Perez, A.A.11
Watt, F.M.12
Darling, S.M.13
Jackson, I.14
Woolf, A.S.15
Scambler, P.J.16
-
6
-
-
0028013551
-
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia
-
Martínez-Frías ML, Bermejo E, Sanchéz OT, Urioste M, Moréena V, Cruz E. 1994. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. Am J Med Genet 49:195-197.
-
(1994)
Am J Med Genet
, vol.49
, pp. 195-197
-
-
Martínez-Frías, M.L.1
Bermejo, E.2
Sanchéz, O.T.3
Urioste, M.4
Moréena, V.5
Cruz, E.6
-
7
-
-
0037872680
-
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
-
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Mégarbané A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34:203-208.
-
(2003)
Nat Genet
, vol.34
, pp. 203-208
-
-
McGregor, L.1
Makela, V.2
Darling, S.M.3
Vrontou, S.4
Chalepakis, G.5
Roberts, C.6
Smart, N.7
Rutland, P.8
Prescott, N.9
Hopkins, J.10
Bentley, E.11
Shaw, A.12
Roberts, E.13
Mueller, R.14
Jadeja, S.15
Philip, N.16
Nelson, J.17
Francannet, C.18
Perez-Aytes, A.19
Mégarbané, A.20
Kerr, B.21
Wainwright, B.22
Woolf, A.S.23
Winter, R.M.24
Scambler, P.J.25
more..
-
8
-
-
0036844229
-
Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
-
Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71:1017-1032.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1017-1032
-
-
Ming, J.E.1
Muenke, M.2
-
9
-
-
34547781263
-
Intrafamilial variability in Fraser syndrome
-
Prasun P, Pradhan M, Goel H. 2007. Intrafamilial variability in Fraser syndrome. Prenat Diagn 27:778-782.
-
(2007)
Prenat Diagn
, vol.27
, pp. 778-782
-
-
Prasun, P.1
Pradhan, M.2
Goel, H.3
-
10
-
-
38849096515
-
Fraser syndrome due to homozygosity for a splice site mutation of FREM2
-
Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A:529-531.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 529-531
-
-
Shafeghati, Y.1
Kniepert, A.2
Vakili, G.3
Zenker, M.4
-
11
-
-
33748582926
-
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome
-
Slavotinek A, Li C, Sherr EH, Chudley AE. 2006. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet Part A 140A:1909-1914.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 1909-1914
-
-
Slavotinek, A.1
Li, C.2
Sherr, E.H.3
Chudley, A.E.4
-
12
-
-
27744516069
-
The genetics of Fraser syndrome and the blebs mouse mutants
-
Smyth I, Scambler P. 2005. The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol Genet 14:269-274.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 269-274
-
-
Smyth, I.1
Scambler, P.2
-
13
-
-
85174978003
-
-
Smyth I, Scambler P. 2007. The genetics of Fraser syndrome and the blebs mouse mutants. In: Fifty years of human genetics: A festschrift and liber amicorum to celebrate the work and life of George Robert Fraser. Mayo O, Leach C. p 170-177.
-
Smyth I, Scambler P. 2007. The genetics of Fraser syndrome and the blebs mouse mutants. In: Fifty years of human genetics: A festschrift and liber amicorum to celebrate the work and life of George Robert Fraser. Mayo O, Leach C. p 170-177.
-
-
-
-
14
-
-
0022483449
-
Isolated and syndromic cryptophthalmos
-
Thomas IT, Frias JL, Felix V, Sanchez DL, Hernandez RA, Jones MC. 1986. Isolated and syndromic cryptophthalmos. Am J Med Genet 25:85-98.
-
(1986)
Am J Med Genet
, vol.25
, pp. 85-98
-
-
Thomas, I.T.1
Frias, J.L.2
Felix, V.3
Sanchez, D.L.4
Hernandez, R.A.5
Jones, M.C.6
-
15
-
-
85174977880
-
-
van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RCM. 2007. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet Part A 143A:3194-3203.
-
van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RCM. 2007. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet Part A 143A:3194-3203.
-
-
-
-
16
-
-
0038617716
-
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice
-
Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, Chowdhury K, Scambler PJ, Chalepakis G. 2003. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 34:209-214.
-
(2003)
Nat Genet
, vol.34
, pp. 209-214
-
-
Vrontou, S.1
Petrou, P.2
Meyer, B.I.3
Galanopoulos, V.K.4
Imai, K.5
Yanagi, M.6
Chowdhury, K.7
Scambler, P.J.8
Chalepakis, G.9
-
17
-
-
0025309267
-
Fraser syndrome andmouse 'bleb' mutants
-
Winter RM. 1990. Fraser syndrome andmouse 'bleb' mutants. Clin Genet 37:494-495.
-
(1990)
Clin Genet
, vol.37
, pp. 494-495
-
-
Winter, R.M.1
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