-
2
-
-
0000915823
-
Interstitial deletion of 6q associated with ectrodactyly
-
Braverman N, Kline A, Pyeritz RE (1993): Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet 53:410.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 410
-
-
Braverman, N.1
Kline, A.2
Pyeritz, R.E.3
-
3
-
-
0016895431
-
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs
-
Bowen P, Armstrong HB (1976): Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. Clin Genet 9:35-42.
-
(1976)
Clin Genet
, vol.9
, pp. 35-42
-
-
Bowen, P.1
Armstrong, H.B.2
-
4
-
-
0015476075
-
The syndrome of ectrodactyly, ectodermal dysplasia, and cleft lip and palate: Report of a family demonstrating a dominant inheritance pattern
-
Brill CB, Hsu LYF, Hirschhorn K (1972): The syndrome of ectrodactyly, ectodermal dysplasia, and cleft lip and palate: Report of a family demonstrating a dominant inheritance pattern. Clin Genet 3:295-302.
-
(1972)
Clin Genet
, vol.3
, pp. 295-302
-
-
Brill, C.B.1
Hsu, L.Y.F.2
Hirschhorn, K.3
-
6
-
-
0020979213
-
Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche
-
Del Porto G, D'Alessandro E, De Matties C, LoRe M, DiFusco I (1983): Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche. Pathologica 75:268-271.
-
(1983)
Pathologica
, vol.75
, pp. 268-271
-
-
Del Porto, G.1
D'Alessandro, E.2
De Matties, C.3
LoRe, M.4
DiFusco, I.5
-
7
-
-
0020483636
-
Associazone tra sindrome EEC e aplasia congenita della cute con epidermolisi bollosa
-
Duillo MT, deToni T, Cavalieri G, Cortese N, Carozinni L, Mitta ML, Naselli S (1982): Associazone tra sindrome EEC e aplasia congenita della cute con epidermolisi bollosa (An association between EEC syndrome and congenital aplasia of the skin with bullous epidermolysis). Minerva Pediatr 34:627-632.
-
(1982)
Minerva Pediatr
, vol.34
, pp. 627-632
-
-
Duillo, M.T.1
DeToni, T.2
Cavalieri, G.3
Cortese, N.4
Carozinni, L.5
Mitta, M.L.6
Naselli, S.7
-
8
-
-
0014819396
-
A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities
-
Freire-Maia N (1970): A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities. Am J Hum Genet 22:370-377.
-
(1970)
Am J Hum Genet
, vol.22
, pp. 370-377
-
-
Freire-Maia, N.1
-
9
-
-
0015389787
-
Fehlbildungs-Retardierungs-Syndrom mit Spalthänden-Spaltfüssen, Iriskolobom, Nierenagenesie und Ventrikelseptumdefekt
-
Gehler J, Grosse RF (1972): Fehlbildungs-Retardierungs-Syndrom mit Spalthänden-Spaltfüssen, Iriskolobom, Nierenagenesie und Ventrikelseptumdefekt. Klin Padiatr 184:389-592.
-
(1972)
Klin Padiatr
, vol.184
, pp. 389-592
-
-
Gehler, J.1
Grosse, R.F.2
-
10
-
-
0027379591
-
Split hand/foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1
-
Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G (1993): Split hand/foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet 47: 823-831.
-
(1993)
Am J Med Genet
, vol.47
, pp. 823-831
-
-
Genuardi, M.1
Pomponi, M.G.2
Sammito, V.3
Bellussi, A.4
Zollino, M.5
Neri, G.6
-
11
-
-
0008952313
-
Syndromes of the Head and Neck
-
Oxford University Press
-
Gorlin RJ, Cohen MM, Levin LS (1990): "Syndromes of the Head and Neck." Oxford Monographs on Medical Genetics No. 19, Oxford University Press, Vol 3, pp 716-719.
-
(1990)
Oxford Monographs on Medical Genetics No. 19
, vol.3
, pp. 716-719
-
-
Gorlin, R.J.1
Cohen, M.M.2
Levin, L.S.3
-
12
-
-
0028859085
-
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21
-
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L (1995): Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21. Am J Med Genet 55: 315-318.
-
(1995)
Am J Med Genet
, vol.55
, pp. 315-318
-
-
Gurrieri, F.1
Cammarata, M.2
Avarello, R.M.3
Genuardi, M.4
Pomponi, M.G.5
Neri, G.6
Giuffrè, L.7
-
13
-
-
0025955374
-
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations
-
Hasegawa T, Hasegawa Y, Asamura S, Nagai T, Tsuchiya Y, Ninomiya M, Fukushima Y (1991): EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin Genet 40:202-206.
-
(1991)
Clin Genet
, vol.40
, pp. 202-206
-
-
Hasegawa, T.1
Hasegawa, Y.2
Asamura, S.3
Nagai, T.4
Tsuchiya, Y.5
Ninomiya, M.6
Fukushima, Y.7
-
14
-
-
0022232821
-
Updating a diagnosis: The EEC/EECUT syndrome
-
only
-
Hecht F (1985): Updating a diagnosis: The EEC/EECUT syndrome. Am J Dis Child 139:1185 (only).
-
(1985)
Am J Dis Child
, vol.139
, pp. 1185
-
-
Hecht, F.1
-
15
-
-
0020366280
-
Coexisting ectrodactyly-ectodermal dysplasia-clefting (EEC) and prune belly syndromes: Report of a case
-
Ivarsson S, Henriksson P, Theander G (1982): Coexisting ectrodactyly-ectodermal dysplasia-clefting (EEC) and prune belly syndromes: Report of a case. Acta Radiol Diagn 23:287-292.
-
(1982)
Acta Radiol Diagn
, vol.23
, pp. 287-292
-
-
Ivarsson, S.1
Henriksson, P.2
Theander, G.3
-
16
-
-
0018092971
-
Incomplete EEC syndrome in a patient with mosaic monosomy 21
-
Jamehdor M, Beligere N, Kaye CI, Pruzansky S, Rosenthal I (1978): Incomplete EEC syndrome in a patient with mosaic monosomy 21. Cleft Palate J 15:390-397.
-
(1978)
Cleft Palate J
, vol.15
, pp. 390-397
-
-
Jamehdor, M.1
Beligere, N.2
Kaye, C.I.3
Pruzansky, S.4
Rosenthal, I.5
-
17
-
-
34249741265
-
Cleft lip/palate, ectodermal dysplasia, ectrodactyly and severe scalp defects
-
Johnson DF (1976): Cleft lip/palate, ectodermal dysplasia, ectrodactyly and severe scalp defects. Synd Ident IV:2-3.
-
(1976)
Synd Ident
, vol.4
, pp. 2-3
-
-
Johnson, D.F.1
-
18
-
-
0015739079
-
Ectrodactyly, ectodermal dysplasia, and clefting syndrome
-
Kaiser-Kupfer M (1973): Ectrodactyly, ectodermal dysplasia, and clefting syndrome. Am J Ophthalmol 76:992-998.
-
(1973)
Am J Ophthalmol
, vol.76
, pp. 992-998
-
-
Kaiser-Kupfer, M.1
-
20
-
-
0027321122
-
Split hand/split foot deformity and LADD syndrome in a family: Overlap between the EEC and LADD syndromes
-
Lacombe D, Serville F, Marchand D, Battin J (1992): Split hand/split foot deformity and LADD syndrome in a family: Overlap between the EEC and LADD syndromes. J Med Genet 30:700-703.
-
(1992)
J Med Genet
, vol.30
, pp. 700-703
-
-
Lacombe, D.1
Serville, F.2
Marchand, D.3
Battin, J.4
-
21
-
-
0022341195
-
Urinary tract involvement in EEC syndrome
-
London R, Heredia RM, Israel J (1985): Urinary tract involvement in EEC syndrome. Am J Dis Child 139:1191-1193.
-
(1985)
Am J Dis Child
, vol.139
, pp. 1191-1193
-
-
London, R.1
Heredia, R.M.2
Israel, J.3
-
22
-
-
0014823845
-
Lobster-claw deformities of the hands and feet
-
Maisels DO (1970): Lobster-claw deformities of the hands and feet. Br J Plast Surg 23:269-282.
-
(1970)
Br J Plast Surg
, vol.23
, pp. 269-282
-
-
Maisels, D.O.1
-
23
-
-
0028890473
-
Ectrodactyly and proximal/intermediate interstitial deletion 7q
-
McElveen C, Carvajal MV, Moscatello D, Towner J, Lacassie Y ( 1995): Ectrodactyly and proximal/intermediate interstitial deletion 7q. Am J Med Genet 56:1-5.
-
(1995)
Am J Med Genet
, vol.56
, pp. 1-5
-
-
McElveen, C.1
Carvajal, M.V.2
Moscatello, D.3
Towner, J.4
Lacassie, Y.5
-
25
-
-
0019180222
-
Trigeminal neuralgia due to dolichoectasia: Angiographic and CT findings in a patient with the EEC syndrome
-
Miner E, Rea GL, Handel S, Bertz J (1980): Trigeminal neuralgia due to dolichoectasia: Angiographic and CT findings in a patient with the EEC syndrome. Neuroradiology 20:163-166.
-
(1980)
Neuroradiology
, vol.20
, pp. 163-166
-
-
Miner, E.1
Rea, G.L.2
Handel, S.3
Bertz, J.4
-
26
-
-
0025099414
-
Ectro-amelia syndrome associated with an interstitial deletion of 7q
-
Morey MA, Higgins RR (1990): Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am J Med Genet 35:95-99.
-
(1990)
Am J Med Genet
, vol.35
, pp. 95-99
-
-
Morey, M.A.1
Higgins, R.R.2
-
27
-
-
0027097981
-
Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients
-
Nardi AC, Ferreira U, Rodrigues N, Magna LA, Rodini ESO, Richieri-Costa A (1992): Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients. Am J Med Genet 44: 803-806.
-
(1992)
Am J Med Genet
, vol.44
, pp. 803-806
-
-
Nardi, A.C.1
Ferreira, U.2
Rodrigues, N.3
Magna, L.A.4
Rodini, E.S.O.5
Richieri-Costa, A.6
-
29
-
-
0028100053
-
A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly
-
Nunes ME, Pagon RA, Disteche CJ, Evans JP (1994): A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly. Clin Dysmorphol 3:277-286.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 277-286
-
-
Nunes, M.E.1
Pagon, R.A.2
Disteche, C.J.3
Evans, J.P.4
-
30
-
-
0020085291
-
Prevention of urinary tract infection by the exogenous glycosaminoglycan sodium pentosanpolysulfate
-
Parsons CL (1982): Prevention of urinary tract infection by the exogenous glycosaminoglycan sodium pentosanpolysulfate. J Urol 127: 167-169.
-
(1982)
J Urol
, vol.127
, pp. 167-169
-
-
Parsons, C.L.1
-
31
-
-
0020609014
-
Successful treatment of interstitial cystitis with sodium pentosanpolysulfate
-
Parsons CL, Schmidt JD, Pollen JJ (1983): Successful treatment of interstitial cystitis with sodium pentosanpolysulfate. J Urol 130: 51-53.
-
(1983)
J Urol
, vol.130
, pp. 51-53
-
-
Parsons, C.L.1
Schmidt, J.D.2
Pollen, J.J.3
-
32
-
-
0021328139
-
Interstitial deletion of a chromosome 7(q11.2q22.1) in a child with split hand/foot malformation
-
Pfeiffer RA (1984): Interstitial deletion of a chromosome 7(q11.2q22.1) in a child with split hand/foot malformation. Ann Genet 27: 45-48.
-
(1984)
Ann Genet
, vol.27
, pp. 45-48
-
-
Pfeiffer, R.A.1
-
33
-
-
0015816718
-
The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies
-
Preus M, Fraser FC (1973): The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. Clin Genet 4:369-375.
-
(1973)
Clin Genet
, vol.4
, pp. 369-375
-
-
Preus, M.1
Fraser, F.C.2
-
36
-
-
0025837994
-
Bilateral split hand and split foot malformation in a boy with de novo interstitial deletion of 7q21.3
-
Roberts SH, Hughes HE, Davies SJ, Meredith AL (1991): Bilateral split hand and split foot malformation in a boy with de novo interstitial deletion of 7q21.3. J Med Genet 28:479-481.
-
(1991)
J Med Genet
, vol.28
, pp. 479-481
-
-
Roberts, S.H.1
Hughes, H.E.2
Davies, S.J.3
Meredith, A.L.4
-
37
-
-
0025063276
-
EEC syndrome: Report on 20 new patients. Clinical and genetics considerations
-
Rodini ESO, Richieri-Costa A (1990): EEC syndrome: Report on 20 new patients. Clinical and genetics considerations. Am J Med Genet 37:42-53.
-
(1990)
Am J Med Genet
, vol.37
, pp. 42-53
-
-
Rodini, E.S.O.1
Richieri-Costa, A.2
-
38
-
-
0023846219
-
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome
-
Rollnick BR, Hoo JJ (1988): Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet 29:131-136.
-
(1988)
Am J Med Genet
, vol.29
, pp. 131-136
-
-
Rollnick, B.R.1
Hoo, J.J.2
-
40
-
-
0014831325
-
Association of ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome
-
Rüdiger RA, Haase W, Passarge E (1970): Association of ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome. Am J Dis Child 120:160-163.
-
(1970)
Am J Dis Child
, vol.120
, pp. 160-163
-
-
Rüdiger, R.A.1
Haase, W.2
Passarge, E.3
-
41
-
-
0018179250
-
Le syndrome de Rüdiger (syndrome E.E.C.): A propos d'un cas associé à un eczema atopique
-
Paris
-
Schnitzler L, Schubert B, Larget-Piet L, Berthelot J, Cleirens S, Taviaux D (1978): Le syndrome de Rüdiger (syndrome E.E.C.): A propos d'un cas associé à un eczema atopique. Annals Dermatol Venerol (Paris) 105:201-206.
-
(1978)
Annals Dermatol Venerol
, vol.105
, pp. 201-206
-
-
Schnitzler, L.1
Schubert, B.2
Larget-Piet, L.3
Berthelot, J.4
Cleirens, S.5
Taviaux, D.6
-
42
-
-
0026334774
-
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2
-
Sharland M, Patton MA, Hill L (1991): Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet 39:413-414.
-
(1991)
Am J Med Genet
, vol.39
, pp. 413-414
-
-
Sharland, M.1
Patton, M.A.2
Hill, L.3
-
44
-
-
0015840347
-
Ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome)
-
Swallow JN, Gray OP, Harper PS (1973): Ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome). Br J Dermatol 89:54-56.
-
(1973)
Br J Dermatol
, vol.89
, pp. 54-56
-
-
Swallow, J.N.1
Gray, O.P.2
Harper, P.S.3
-
45
-
-
0024517762
-
Interstitial long-arm deletion of chromosome 7 and ectrodactyly
-
Tajara EH, Varella-Garcia M, Gusson A (1989): Interstitial long-arm deletion of chromosome 7 and ectrodactyly. Am J Med Genet 32: 192-194.
-
(1989)
Am J Med Genet
, vol.32
, pp. 192-194
-
-
Tajara, E.H.1
Varella-Garcia, M.2
Gusson, A.3
-
46
-
-
0013656160
-
The Genetics of Hand Malformations
-
New York: Alan R. Liss Inc. for the National Foundation - March of Dimes
-
Temtamy S, McKusick V (1978): "The Genetics of Hand Malformations." New York: Alan R. Liss Inc. for the National Foundation - March of Dimes, BD:OAS XIV(3):157-169.
-
(1978)
BD:OAS
, vol.14
, Issue.3
, pp. 157-169
-
-
Temtamy, S.1
McKusick, V.2
-
47
-
-
0027182938
-
Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation
-
Viljoen DL, Smart R (1993): Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. Clin Dysmorphol 2:274-277.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 274-277
-
-
Viljoen, D.L.1
Smart, R.2
-
48
-
-
0343276199
-
The syndrome of cleft lip, cleft palate and lobster claw deformities of hands and feet
-
Walker JC, Clodius L ( 1963): The syndrome of cleft lip, cleft palate and lobster claw deformities of hands and feet. Plast Reconstr Surg 32:627-636.
-
(1963)
Plast Reconstr Surg
, vol.32
, pp. 627-636
-
-
Walker, J.C.1
Clodius, L.2
-
49
-
-
0023822671
-
Ectrodactyly (split-hand/split foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred
-
Wallis CE (1988): Ectrodactyly (split-hand/split foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. Clin Genet 34:252-257.
-
(1988)
Clin Genet
, vol.34
, pp. 252-257
-
-
Wallis, C.E.1
-
51
-
-
0027831551
-
Syndactylies and polydactylies: Embryological overview and suggested classification
-
Winter RM, Tickle C (1993): Syndactylies and polydactylies: Embryological overview and suggested classification. Eur J Hum Genet 1: 96-104.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 96-104
-
-
Winter, R.M.1
Tickle, C.2
|