-
1
-
-
10544233564
-
Klinisches Bild bei terminaler Deletion am langen Arm des Chromosoms Nr. 7
-
Stuttgart. G. Thieme
-
BAUMANN W., ZABEL B., OTTE J. and WEITZEL D. : Klinisches Bild bei terminaler Deletion am langen Arm des Chromosoms Nr. 7. Klin. Genet. Pädiatr.. 2nd Symposium Stuttgart. G. Thieme, 1980, 209-213.
-
(1980)
Klin. Genet. Pädiatr.. 2nd Symposium
, pp. 209-213
-
-
Baumann, W.1
Zabel, B.2
Otte, J.3
Weitzel, D.4
-
2
-
-
0021814389
-
Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21 ;q22)
-
BRÖCKER-VRIENDS A.H.J.T., VAN DE KAMP J.J.P., GERAEDTS J.P.M., BOS S.E. and NIJENHUIS Th.A.: Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21 ;q22). Clin. Genet., 1985, 27, 487-495.
-
(1985)
Clin. Genet.
, vol.27
, pp. 487-495
-
-
Bröcker-Vriends, A.H.J.T.1
Van De Kamp, J.J.P.2
Geraedts, J.P.M.3
Bos, S.E.4
Nijenhuis, Th.A.5
-
3
-
-
0024462628
-
Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation
-
BÜRRIG K.F., GEBAUER J., TERINDE R. and PFITZER P. : Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation. Clin. Genet., 1989, 36, 262-265.
-
(1989)
Clin. Genet.
, vol.36
, pp. 262-265
-
-
Bürrig, K.F.1
Gebauer, J.2
Terinde, R.3
Pfitzer, P.4
-
4
-
-
0016740594
-
Two cases of 8p trisomy in one sibship
-
CHIYO H.-A., NAKAGOME Y., MATSUI I., KUROKI Y., KOBAYASHI H. and ONO K.: Two cases of 8p trisomy in one sibship. Clin. Genet., 1975, 7, 328-333.
-
(1975)
Clin. Genet.
, vol.7
, pp. 328-333
-
-
Chiyo, H.-A.1
Nakagome, Y.2
Matsui, I.3
Kuroki, Y.4
Kobayashi, H.5
Ono, K.6
-
5
-
-
0019165456
-
A case of partial trisomy 8p resulting from a maternal balanced translocation
-
CLARK C.E., TELFER M.A. and COWELL H.R.: A case of partial trisomy 8p resulting from a maternal balanced translocation. Am. J. Med. Genet., 1980, 7, 21-25.
-
(1980)
Am. J. Med. Genet.
, vol.7
, pp. 21-25
-
-
Clark, C.E.1
Telfer, M.A.2
Cowell, H.R.3
-
6
-
-
0029123590
-
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
-
ENGELEN J.J.M., de DIE-SMULDERS C.E.M., SIJSTERMANS J.M.J., MEERS L.E.C., ALBRECHTS J.C.M. and HAMERS A.J.H.: Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J. Med. Genet., 1995, 32. 792-795.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 792-795
-
-
Engelen, J.J.M.1
De Die-Smulders, C.E.M.2
Sijstermans, J.M.J.3
Meers, L.E.C.4
Albrechts, J.C.M.5
Hamers, A.J.H.6
-
7
-
-
0019981241
-
8p Trisomy in a malformed foetus
-
FRYNS J.P., PETIT P., MOERMAN Ph., CASSIMAN J.J. and VAN DEN BERGHE H.: 8p Trisomy in a malformed foetus. Ann. Génét., 1982, 25. 162-163.
-
(1982)
Ann. Génét.
, vol.25
, pp. 162-163
-
-
Fryns, J.P.1
Petit, P.2
Moerman, Ph.3
Cassiman, J.J.4
Van Den Berghe, H.5
-
8
-
-
0022002527
-
De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis
-
FRYNS J.P., HASPESLAGH M., AGNEESSENS A. and VAN DEN BERGHE H: De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis. Ann. Génét., 1985. 28, 45-48.
-
(1985)
Ann. Génét.
, vol.28
, pp. 45-48
-
-
Fryns, J.P.1
Haspeslagh, M.2
Agneessens, A.3
Van Den Berghe, H.4
-
9
-
-
0022467814
-
Double autosomal chromosomal abberation (3p trisomy/9p monosomy) and sex-reversal
-
FRYNS J.P., KLECZKOWSKA A., CASAER P. and VAN DEN BERGHE H.: Double autosomal chromosomal abberation (3p trisomy/9p monosomy) and sex-reversal. Ann. Génét., 1986, 29, 49-52.
-
(1986)
Ann. Génét.
, vol.29
, pp. 49-52
-
-
Fryns, J.P.1
Kleczkowska, A.2
Casaer, P.3
Van Den Berghe, H.4
-
10
-
-
10544249151
-
Trisomy 8p resulting from a paternal reciprocal translocation
-
FUNDERBURK S.J., MULLER H.M. and BARRETT C.T. : Trisomy 8p resulting from a paternal reciprocal translocation. Ped. Res., 1976, 10, 364.
-
(1976)
Ped. Res.
, vol.10
, pp. 364
-
-
Funderburk, S.J.1
Muller, H.M.2
Barrett, C.T.3
-
11
-
-
0018251230
-
Report of a trisomy Sp infant with carrier father
-
FUNDERBURK S.J., BARRETT C.T. and KLISAK I.: Report of a trisomy Sp infant with carrier father. Ann. Génét., 1978, 22, 219-222.
-
(1978)
Ann. Génét.
, vol.22
, pp. 219-222
-
-
Funderburk, S.J.1
Barrett, C.T.2
Klisak, I.3
-
12
-
-
0027477150
-
Physical mapping of the holoprosencephaly critical region on chromosome 7q36
-
GURRIERI F., TRASK B.J., VAN DEN ENGH G., KRAUSS C.M., SCHINZEL A., PETTENATI M.J., SCHINDLER D., DIETZ-BAND J., VERGNAUD G., SCHERER S.W., TSUI L.-C. and MUENKE M.: Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat. Genet., 1993, 3, 247-251.
-
(1993)
Nat. Genet.
, vol.3
, pp. 247-251
-
-
Gurrieri, F.1
Trask, B.J.2
Van Den Engh, G.3
Krauss, C.M.4
Schinzel, A.5
Pettenati, M.J.6
Schindler, D.7
Dietz-Band, J.8
Vergnaud, G.9
Scherer, S.W.10
Tsui, L.-C.11
Muenke, M.12
-
13
-
-
0025821020
-
Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36
-
HATZIIOANNOU A.G., KRAUSS C.M., LEWIS M.B. and HALAZONETIS T.D.: Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. Am. J. Med. Genet., 1991, 40, 201-205.
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 201-205
-
-
Hatziioannou, A.G.1
Krauss, C.M.2
Lewis, M.B.3
Halazonetis, T.D.4
-
14
-
-
0017885164
-
Two cases of an abnormal short arm of chromosome 8(8p+) associated with mental retardation
-
HONGELL K., KNUUTILA S. and WESTERMARCK T.: Two cases of an abnormal short arm of chromosome 8(8p+) associated with mental retardation. Clin. Genet., 1978, 13, 237-240.
-
(1978)
Clin. Genet.
, vol.13
, pp. 237-240
-
-
Hongell, K.1
Knuutila, S.2
Westermarck, T.3
-
15
-
-
0022895198
-
Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication
-
HOO J.J.: Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication. Ann. Genet., 1986, 29, 266-268.
-
(1986)
Ann. Genet.
, vol.29
, pp. 266-268
-
-
Hoo, J.J.1
-
16
-
-
0018953882
-
Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation
-
JONES L.A, DENGLER D.R., TAYSI K., SHACKELFORD G.D. and HARTMANN A.F. : Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. J. Med. Genet., 1980, 17, 232-235.
-
(1980)
J. Med. Genet.
, vol.17
, pp. 232-235
-
-
Jones, L.A.1
Dengler, D.R.2
Taysi, K.3
Shackelford, G.D.4
Hartmann, A.F.5
-
17
-
-
0024988026
-
Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12)mat karyotype
-
KLECZKOWSKA A., FRYNS J.P., MOERMAN Ph, VANDENBERGHE K. and VAN DEN BERGHE H.: Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12)mat karyotype. Ann. Génét., 1990, 33, 111-112.
-
(1990)
Ann. Génét.
, vol.33
, pp. 111-112
-
-
Kleczkowska, A.1
Fryns, J.P.2
Moerman, Ph.3
Vandenberghe, K.4
Van Den Berghe, H.5
-
18
-
-
0024792725
-
Inheritance and phenotypic expression of a t(7;9)(q36:q34) mat
-
KRAUSS C.M., LIPTAK K.J., AGGARWAL A. and ROBINSON D.: Inheritance and phenotypic expression of a t(7;9)(q36:q34) mat. Am. J. Med. Genet., 1989, 34, 514-519.
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 514-519
-
-
Krauss, C.M.1
Liptak, K.J.2
Aggarwal, A.3
Robinson, D.4
-
19
-
-
0025319363
-
Terminal 7q deletion as a cause of holoprosencephaly. Letters to the editor
-
MASUNO M. and ORII T.: Terminal 7q deletion as a cause of holoprosencephaly. Letters to the editor. Clin. Genet., 1990, 37, 238.
-
(1990)
Clin. Genet.
, vol.37
, pp. 238
-
-
Masuno, M.1
Orii, T.2
-
20
-
-
0025563509
-
Two unrelated cases of single maxillary central incisor with 7q terminal deletion
-
1990
-
MASUNO M., FUKUSHIMA Y., SUGIO Y., IKEDA M. and KUROKI Y. (1990): Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn. J. Hum. Genet., 1990, 35, 311-317.
-
(1990)
Jpn. J. Hum. Genet.
, vol.35
, pp. 311-317
-
-
Masuno, M.1
Fukushima, Y.2
Sugio, Y.3
Ikeda, M.4
Kuroki, Y.5
-
21
-
-
0023713408
-
Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis
-
MEMO L., LENZINI E. and BACCICHETTI C.: Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis. Ann. Genet., 1988, 31, 181-185.
-
(1988)
Ann. Genet.
, vol.31
, pp. 181-185
-
-
Memo, L.1
Lenzini, E.2
Baccichetti, C.3
-
22
-
-
0019205875
-
Duplication 8p Syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12
-
MORENOFUENMAYOR H., MEILINGER K.L., RUCKNAGEL D.L., MOHRENWEISER H.L. and CHU E.H.Y.: Duplication 8p Syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12. Am. J. Med. Genet., 1980, 7, 316-368.
-
(1980)
Am. J. Med. Genet.
, vol.7
, pp. 316-368
-
-
Morenofuenmayor, H.1
Meilinger, K.L.2
Rucknagel, D.L.3
Mohrenweiser, H.L.4
Chu, E.H.Y.5
-
23
-
-
0020625809
-
A case of partial deletion of the long arm of chromosome 7 (7q34→7qter)
-
NISTRUP MADSEN H., LUNDSTEEN C. and STEINRUD J.: A case of partial deletion of the long arm of chromosome 7 (7q34→7qter). Dan. Med. Bullet., 1983, 30, 1, 14-16.
-
(1983)
Dan. Med. Bullet.
, vol.30
, Issue.1
, pp. 14-16
-
-
Nistrup Madsen, H.1
Lundsteen, C.2
Steinrud, J.3
-
24
-
-
0025633633
-
Wolf-Hirschhorn and cri du chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect
-
PETIT P. and FRYNS J.P.: Wolf-Hirschhorn and cri du chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect. Genet. Couns., 1990, 38, 2, 179-184.
-
(1990)
Genet. Couns.
, vol.38
, Issue.2
, pp. 179-184
-
-
Petit, P.1
Fryns, J.P.2
-
25
-
-
0021252039
-
Maladie du cri du chat et trisomie 8p par translocation paternelle t(5;8)(p1409;p12)
-
RETHORÉ M.-O., COUTURIER J., VILLIAN E., HAMBOURG M. and LEJEUNE J.: Maladie du cri du chat et trisomie 8p par translocation paternelle t(5;8)(p1409;p12). Ann. Génét., 1984, 2, 118-121.
-
(1984)
Ann. Génét.
, vol.2
, pp. 118-121
-
-
Rethoré, M.-O.1
Couturier, J.2
Villian, E.3
Hambourg, M.4
Lejeune, J.5
-
26
-
-
0022294566
-
Reciprocal syndrome by defeciency-duplication resulting from a maternal translocation
-
RETHORÉ M.-O., PRIEUR M., DE BLOIS M.C., NAFFAH J., RAVEL A., VILLIAN E. and LEJEUNE J.: Reciprocal syndrome by defeciency-duplication resulting from a maternal translocation. Ann. Génét., 1985, 28, 149-153.
-
(1985)
Ann. Génét.
, vol.28
, pp. 149-153
-
-
Rethoré, M.-O.1
Prieur, M.2
De Blois, M.C.3
Naffah, J.4
Ravel, A.5
Villian, E.6
Lejeune, J.7
-
27
-
-
0021334034
-
Ocular abnormalities in terminal deletion of the long arm of chromosome seven
-
REYNOLDS J.D., GOLDEN W.L., ZHANG Y. and HILES D.A.: Ocular abnormalities in terminal deletion of the long arm of chromosome seven. J. Ped. Ophthalm. & Strabism., 1984, 21, 28-32.
-
(1984)
J. Ped. Ophthalm. & Strabism.
, vol.21
, pp. 28-32
-
-
Reynolds, J.D.1
Golden, W.L.2
Zhang, Y.3
Hiles, D.A.4
-
28
-
-
0021321124
-
Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rep (1;7)(q32;q24)
-
SCHINZEL A.: Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rep (1;7)(q32;q24). Am. J. Med. Genet., 1984, 18, 153-161.
-
(1984)
Am. J. Med. Genet.
, vol.18
, pp. 153-161
-
-
Schinzel, A.1
-
29
-
-
0022531464
-
Letter to the editor: A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1;7)(q32;q24) familial translocation
-
SCHINZEL A.: Letter to the editor: A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1;7)(q32;q24) familial translocation. Am. J. Med. Genet., 1986, 24, 205-206.
-
(1986)
Am. J. Med. Genet.
, vol.24
, pp. 205-206
-
-
Schinzel, A.1
-
30
-
-
0022728894
-
Brief clinical report: Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)
-
SMART R.D., ROSS J., AMANN G. and NELSON M.M.: Brief clinical report: Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21). Am. J. Med. Genet., 1986, 24, 269-272.
-
(1986)
Am. J. Med. Genet.
, vol.24
, pp. 269-272
-
-
Smart, R.D.1
Ross, J.2
Amann, G.3
Nelson, M.M.4
-
31
-
-
0019976804
-
Terminal Long arm deletion of chromosome 7 and retino-choroidal coloboma
-
TAYSI K., BURRDE R.M. and ROHRBAUGH J.R.: Terminal Long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann. Génét., 1982, 25, 159-161.
-
(1982)
Ann. Génét.
, vol.25
, pp. 159-161
-
-
Taysi, K.1
Burrde, R.M.2
Rohrbaugh, J.R.3
-
32
-
-
0023866947
-
Congenital heart defect in a patient with deletion of chromosome 7q
-
TILLER G.E., WATSON M.S., DUNCAN L.M. and DOWTON S.B.: Congenital heart defect in a patient with deletion of chromosome 7q. Am. J. Med. Genet., 1988, 29, 283-287.
-
(1988)
Am. J. Med. Genet.
, vol.29
, pp. 283-287
-
-
Tiller, G.E.1
Watson, M.S.2
Duncan, L.M.3
Dowton, S.B.4
-
33
-
-
0026734178
-
Partial monosomy 8p and partial trisomy 8p with moderate mental retardation
-
VAN BALKOM I.D.C., HAGENDOORN J., DE PATER J.M. and HENNEKAM R.C.M.: Partial monosomy 8p and partial trisomy 8p with moderate mental retardation. Genet. Couns., 1992, 3. 83-89.
-
(1992)
Genet. Couns.
, vol.3
, pp. 83-89
-
-
Van Balkom, I.D.C.1
Hagendoorn, J.2
De Pater, J.M.3
Hennekam, R.C.M.4
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