-
1
-
-
0035888281
-
Intermediate formof ablepharon-macrostomia syndrome with CNS abnormalities
-
Amor DJ, Savarirayan R. 2001. Intermediate formof ablepharon-macrostomia syndrome with CNS abnormalities. Am J Med Genet 103:252-254.
-
(2001)
Am J Med Genet
, vol.103
, pp. 252-254
-
-
Amor, D.J.1
Savarirayan, R.2
-
2
-
-
0020441459
-
Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation
-
Barber N, Say B, Bell RF, Merveille OC. 1982. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation. Syndr Ident 8:6-9. (Pubitemid 13147086)
-
(1982)
Syndrome Identification
, vol.8
, Issue.1
, pp. 6-9
-
-
Barber, N.1
Say, B.2
Bell, R.F.3
Merveille, O.C.4
-
4
-
-
33846828781
-
Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
-
DOI 10.1002/ajmg.a.31426
-
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. (Pubitemid 46212214)
-
(2007)
American Journal of Medical Genetics, Part a
, vol.143
, Issue.3
, pp. 241-247
-
-
Cavalcanti, D.P.1
Matejas, V.2
Luquetti, D.3
Mello, M.F.4
Zenker, M.5
-
5
-
-
0023715361
-
Lid agenensis-macrostomia-psychomotor retardation-forehead hypertrichosis - A new syndrome?
-
Cesarino EJ, Pinheiro M, Freire-Maia N, Meira Silva MC. 1988. Lid agenensis-macrostomia-psychomotor retardation-forehead hypertrichosis - A new syndrome? Am J Med Genet 31:299-304.
-
(1988)
Am J Med Genet
, vol.31
, pp. 299-304
-
-
Cesarino, E.J.1
Pinheiro, M.2
Freire-Maia, N.3
Meira Silva, M.C.4
-
6
-
-
0029590063
-
Congenital shortening of the anterior lamella of all eyelids: The so-called ablepharon macrostomia syndrome
-
Cruz AAV, Guimaraes FC, Obeid HN, Ferraz VEF, Noce TR, Martinez FE. 1995. Congenital shortening of the anterior lamella of all eyelids: The so-called ablepharon macrostomia syndrome. Ophthalmic Plast Reconstr Surg 11:284-287.
-
(1995)
Ophthalmic Plast Reconstr Surg
, vol.11
, pp. 284-287
-
-
Cruz, A.A.V.1
Guimaraes, F.C.2
Obeid, H.N.3
Ferraz, V.E.F.4
Noce, T.R.5
Martinez, F.E.6
-
7
-
-
0025828810
-
Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation
-
David A, Gordeff A, Badoual J, Delaire J. 1991. Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation. Am J Med Genet 39:112-115.
-
(1991)
Am J Med Genet
, vol.39
, pp. 112-115
-
-
David, A.1
Gordeff, A.2
Badoual, J.3
Delaire, J.4
-
8
-
-
0032769650
-
Autosomal dominant inheritance of Barber-Say syndrome
-
DOI 10.1002/(SICI)1096-8628(19990903)86:1<54::AID-AJMG10>3.0.CO;2-2
-
Dinulos MB, Pagon RA. 1999. Autosomal dominant inheritance of Barber-Say syndrome. Am J Med Genet 86:54-56. (Pubitemid 29387716)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.1
, pp. 54-56
-
-
Dinulos, M.B.1
Pagon, R.A.2
-
9
-
-
33751503669
-
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
-
DOI 10.1159/000095921
-
Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Müller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R. 2006. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115:247-253. (Pubitemid 44832027)
-
(2006)
Cytogenetic and Genome Research
, vol.115
, Issue.3-4
, pp. 247-253
-
-
Erdogan, F.1
Chen, W.2
Kirchhoff, M.3
Kalscheuer, V.M.4
Hultschig, C.5
Muller, I.6
Schulz, R.7
Menzel, C.8
Bryndorf, T.9
Ropers, H.-H.10
Ullmann, R.11
-
10
-
-
0034597368
-
Ablepharon-macrostomia syndrome: First report of familial occurrence
-
Ferraz VEF, Melo DG, Hansing SE, Cruz AAV, Pina-Neto JM. 2000. Ablepharon-macrostomia syndrome: First report of familial occurrence. Am J Med Genet 94:281-283.
-
(2000)
Am J Med Genet
, vol.94
, pp. 281-283
-
-
Ferraz, V.E.F.1
Melo, D.G.2
Hansing, S.E.3
Cruz, A.A.V.4
Pina-Neto, J.M.5
-
11
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
DOI 10.1002/gcc.10155
-
Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP. 2003. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:361-374. (Pubitemid 36314519)
-
(2003)
Genes Chromosomes and Cancer
, vol.36
, Issue.4
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
Burford, D.C.4
Hunt, S.5
Smith, J.6
Vetrie, D.7
Gorman, P.8
Tomlinson, I.P.M.9
Carter, N.P.10
-
13
-
-
0001962088
-
Ablepharon macrostomia syndrome: Report of a case and clinical delineation
-
Markouizos D, Siddiqi U, Siddiqi S, Raziuddin K, Nangia B. 1990. Ablepharon macrostomia syndrome: Report of a case and clinical delineation. Am J Hum Genet 47:256.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 256
-
-
Markouizos, D.1
Siddiqi, U.2
Siddiqi, S.3
Raziuddin, K.4
Nangia, B.5
-
14
-
-
0027220991
-
Hypertrichosis, atrophic skin, ectropion and macrostomia (Barber-Say syndrome): Report of a new case
-
Martinez Santana S, Perez Alvarez F, Frias JL, Martinez-Frias ML. 1993. Hypertrichosis, atrophic skin, ectropion and macrostomia (Barber-Say syndrome): Report of a new case. Am J Med Genet 47:20-223.
-
(1993)
Am J Med Genet
, vol.47
, pp. 20-223
-
-
Martinez Santana, S.1
Perez Alvarez, F.2
Frias, J.L.3
Martinez-Frias, M.L.4
-
15
-
-
0032581124
-
Barber-Say syndrome: Report of a new case
-
DOI 10.1002/(SICI)1096-8628(19980630)78:2<188::AID-AJMG19>3.0.CO;2- J
-
Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A. 1998. Barber-Say syndrome: Report of a new case. Am J Med Genet 78:188-191. (Pubitemid 28298482)
-
(1998)
American Journal of Medical Genetics
, vol.78
, Issue.2
, pp. 188-191
-
-
Mazzanti, L.1
Bergamaschi, R.2
Neri, I.3
Perri, A.4
Patrizi, A.5
Cacciari, E.6
Forabosco, A.7
-
17
-
-
33745295734
-
Oculoplastic approach to treating Barber-Say syndrome
-
Ng JD, Rajguru DS. 2006. Oculoplastic approach to treating Barber-Say syndrome. Ophthal Plast Reconstr Surg 22:232-234.
-
(2006)
Ophthal Plast Reconstr Surg
, vol.22
, pp. 232-234
-
-
Ng, J.D.1
Rajguru, D.S.2
-
18
-
-
0029940612
-
Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q
-
DOI 10.1007/s004390050087
-
Pellegrino JE, Schnur RE, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner NB, Stump T, Grace K, Zackai EH. 1996. Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q. Hum Genet 97:532-536. (Pubitemid 26081063)
-
(1996)
Human Genetics
, vol.97
, Issue.4
, pp. 532-536
-
-
Pellegrino, J.E.1
Schnur, R.E.2
Boghosian-Sell, L.3
Strathdee, G.4
Overhauser, J.5
Spinner, N.B.6
Stump, T.7
Grace, K.8
Zackai, E.H.9
-
20
-
-
0031578615
-
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say syndrome
-
Sod R, Izbizky G, Cohen-Salama M. 1997. Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say syndrome. Am J Med Genet 73:366-367.
-
(1997)
Am J Med Genet
, vol.73
, pp. 366-367
-
-
Sod, R.1
Izbizky, G.2
Cohen-Salama, M.3
-
22
-
-
33645528002
-
What syndrome is this? Barber-Say syndrome
-
Tenea D, Jacyk WK. 2006. What syndrome is this? Barber-Say syndrome. Pediatr Dermatol 23:183-184.
-
(2006)
Pediatr Dermatol
, vol.23
, pp. 183-184
-
-
Tenea, D.1
Jacyk, W.K.2
|