-
1
-
-
16144368562
-
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
-
Belloni E, Münke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HHQ, Koop B, Martindale D, Rommens JM, Tsui L-C, Scherer SW (1996): Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet 14:353-356.
-
(1996)
Nature Genet
, vol.14
, pp. 353-356
-
-
Belloni, E.1
Münke, M.2
Roessler, E.3
Traverso, G.4
Siegel-Bartelt, J.5
Frumkin, A.6
Mitchell, H.F.7
Donis-Keller, H.8
Helms, C.9
Hing, A.V.10
Heng, H.H.Q.11
Koop, B.12
Martindale, D.13
Rommens, J.M.14
Tsui, L.-C.15
Scherer, S.W.16
-
2
-
-
0018836275
-
Two unrelated children with distal long arm deletion of chromosome 7: Clinical features, cytogenetic and gene marker studies
-
Bernstein R, Dawson B, Morcom G, Wagner J, Jenkins T (1980): Two unrelated children with distal long arm deletion of chromosome 7: Clinical features, cytogenetic and gene marker studies. Clin Genet 17: 228-237.
-
(1980)
Clin Genet
, vol.17
, pp. 228-237
-
-
Bernstein, R.1
Dawson, B.2
Morcom, G.3
Wagner, J.4
Jenkins, T.5
-
3
-
-
0025355150
-
Terminal deletions of the long arm of chromosome 7: Five new cases
-
Bogart MH, Cunniff C, Bradshaw C, Lyons Jones K, Jones OW (1990): Terminal deletions of the long arm of chromosome 7: Five new cases. Am J Med Genet 36:53-55.
-
(1990)
Am J Med Genet
, vol.36
, pp. 53-55
-
-
Bogart, M.H.1
Cunniff, C.2
Bradshaw, C.3
Lyons Jones, K.4
Jones, O.W.5
-
4
-
-
0024427123
-
Perspectives on holoprosencephaly. III. Spectra, distinctions, continuities, and discontinuities
-
Cohen MM Jr (1989): Perspectives on holoprosencephaly. III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
-
(1989)
Am J Med Genet
, vol.34
, pp. 271-288
-
-
Cohen Jr., M.M.1
-
5
-
-
0027462361
-
Holoprosencephaly: A family showing dominant inheritance and variable expression
-
Collins AL, Lunt PW, Garrett C, Dennis NR (1993): Holoprosencephaly: A family showing dominant inheritance and variable expression. J Med Genet 30:36-40.
-
(1993)
J Med Genet
, vol.30
, pp. 36-40
-
-
Collins, A.L.1
Lunt, P.W.2
Garrett, C.3
Dennis, N.R.4
-
7
-
-
0016209790
-
Tentative localization of a Hageman (Factor XII) locus on 7q: Probably the 7q35 Band
-
de Grouchy J, Turleau C (1974): Tentative localization of a Hageman (Factor XII) locus on 7q: Probably the 7q35 Band. Humangenetik 24:197-200.
-
(1974)
Humangenetik
, vol.24
, pp. 197-200
-
-
De Grouchy, J.1
Turleau, C.2
-
8
-
-
0027171207
-
Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops
-
Finley BE, Seguin JH, Bennett TL, Ardinger R, Burlbaw J, Levitch L, Keifer C, Pasztor L (1993): Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops. Am J Med Genet 47:221-222.
-
(1993)
Am J Med Genet
, vol.47
, pp. 221-222
-
-
Finley, B.E.1
Seguin, J.H.2
Bennett, T.L.3
Ardinger, R.4
Burlbaw, J.5
Levitch, L.6
Keifer, C.7
Pasztor, L.8
-
9
-
-
0018279219
-
Hageman (Factor XII) locus on 7q? Report of a second case with del(7)q35 and normal factor XII level
-
Francke U (1978): Hageman (Factor XII) locus on 7q? Report of a second case with del(7)q35 and normal factor XII level. Hum Genet 45:363-367.
-
(1978)
Hum Genet
, vol.45
, pp. 363-367
-
-
Francke, U.1
-
10
-
-
0018663464
-
A girl with karyotype 46,XX,del(7)(pter→q32:)
-
Friedrich U, Østerballe O, Stenbjerg S, Jørgensen J (1979): A girl with karyotype 46,XX,del(7)(pter→q32:). Hum Genet 51:231-235.
-
(1979)
Hum Genet
, vol.51
, pp. 231-235
-
-
Friedrich, U.1
Østerballe, O.2
Stenbjerg, S.3
Jørgensen, J.4
-
11
-
-
0028268123
-
Integration of physical, genetic and cytogenetic maps of human chromosome 7: Isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers
-
Green ED, Idol JR, Mohr-Tidwell RM, Braden VV, Peluso DC, Fulton RS, Massa HF, Magness CL, Wilson AM, Kimura J, Weissenbach J, Trask BJ (1994): Integration of physical, genetic and cytogenetic maps of human chromosome 7: Isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum Mol Genet 3: 489-501.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 489-501
-
-
Green, E.D.1
Idol, J.R.2
Mohr-Tidwell, R.M.3
Braden, V.V.4
Peluso, D.C.5
Fulton, R.S.6
Massa, H.F.7
Magness, C.L.8
Wilson, A.M.9
Kimura, J.10
Weissenbach, J.11
Trask, B.J.12
-
12
-
-
0027477150
-
Physical mapping of the holoprosencephaly critical region on chromosome 7q36
-
Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, Tsui L-C, Münke M (1993): Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nature Genet 3:247-251.
-
(1993)
Nature 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
Münke, M.12
-
13
-
-
0017757729
-
7q deletion syndrome (7q32→7qter)
-
Harris EL, Wappner RS, Palmer CG, Hall B, Dinno N, Seashore MR, Breg WR (1977): 7q deletion syndrome (7q32→7qter). Clin Genet 12:233-238.
-
(1977)
Clin Genet
, vol.12
, pp. 233-238
-
-
Harris, E.L.1
Wappner, R.S.2
Palmer, C.G.3
Hall, B.4
Dinno, N.5
Seashore, M.R.6
Breg, W.R.7
-
14
-
-
0024588265
-
Production of a mutation in mouse En-2 gene by homologous recombination in embryonic stem cells
-
Joyner AL, Skarnes WC, Rossant J (1989): Production of a mutation in mouse En-2 gene by homologous recombination in embryonic stem cells. Nature 338:153-156.
-
(1989)
Nature
, vol.338
, pp. 153-156
-
-
Joyner, A.L.1
Skarnes, W.C.2
Rossant, J.3
-
15
-
-
0030069671
-
Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development
-
Joyner AL (1996): Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development. Trends Genet 12:15-20.
-
(1996)
Trends Genet
, vol.12
, pp. 15-20
-
-
Joyner, A.L.1
-
16
-
-
0019289033
-
A case with a terminal deletion of the long arm of chromosome 7
-
Kodama Y, Narahara K, Yabuuchi H, Hirano A, Inoue H, Kimura S, Kimoto H (1980): A case with a terminal deletion of the long arm of chromosome 7. Jpn J Human Genet 25:329-335.
-
(1980)
Jpn J Human Genet
, vol.25
, pp. 329-335
-
-
Kodama, Y.1
Narahara, K.2
Yabuuchi, H.3
Hirano, A.4
Inoue, H.5
Kimura, S.6
Kimoto, H.7
-
17
-
-
0017594093
-
A partial long arm deletion of chromosome 7: 46,XY,del(7)(q32)
-
Kousseff BG, Hsu LYF, Paciuc S, Hirschhorn K (1977): A partial long arm deletion of chromosome 7: 46,XY,del(7)(q32). J Med Genet 14:144-147.
-
(1977)
J Med Genet
, vol.14
, pp. 144-147
-
-
Kousseff, B.G.1
Hsu, L.Y.F.2
Paciuc, S.3
Hirschhorn, K.4
-
19
-
-
0019436245
-
La monosomie 7qter; a propos d'une observation
-
Lambert JC, Mariani R, Donzeau M, Ferrari M, Boutte P, Ayraud N (1981): La monosomie 7qter; a propos d'une observation. Arch Fr Pediatr 38: 177-180.
-
(1981)
Arch Fr Pediatr
, vol.38
, pp. 177-180
-
-
Lambert, J.C.1
Mariani, R.2
Donzeau, M.3
Ferrari, M.4
Boutte, P.5
Ayraud, N.6
-
20
-
-
0025563509
-
Two unrelated cases of single maxillary central incisor with 7q terminal deletion
-
Masuno M, Fukushima Y, Sugio Y, Ikeda M, Kuroki Y (1990): Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn J Human Genet 35:311-317.
-
(1990)
Jpn J Human Genet
, vol.35
, pp. 311-317
-
-
Masuno, M.1
Fukushima, Y.2
Sugio, Y.3
Ikeda, M.4
Kuroki, Y.5
-
21
-
-
0029909850
-
Currarino triad with terminal deletion 7q35→qter
-
Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K-I, Ohhama Y, Nishi T, Kuroki Y (1996): Currarino triad with terminal deletion 7q35→qter. J Med Genet 33:877-878.
-
(1996)
J Med Genet
, vol.33
, pp. 877-878
-
-
Masuno, M.1
Imaizumi, K.2
Aida, N.3
Tanaka, Y.4
Sekido, K.-I.5
Ohhama, Y.6
Nishi, T.7
Kuroki, Y.8
-
22
-
-
0024420306
-
Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly
-
Münke M (1989): Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet 34:237-245.
-
(1989)
Am J Med Genet
, vol.34
, pp. 237-245
-
-
Münke, M.1
-
23
-
-
0028023154
-
Linkage of a human brain malformation, familial holoprocencephaly, to chromosome 7 and evidence for genetic heterogeneity
-
Münke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RCM, Schaefer GB, Weik LA, Lubinsky MS, Daack-Hirsch S, Moore CA, Dobyns WB, Murray JC, Price RA (1994): Linkage of a human brain malformation, familial holoprocencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA 91:8102-8106.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8102-8106
-
-
Münke, M.1
Gurrieri, F.2
Bay, C.3
Yi, D.H.4
Collins, A.L.5
Johnson, V.P.6
Hennekam, R.C.M.7
Schaefer, G.B.8
Weik, L.A.9
Lubinsky, M.S.10
Daack-Hirsch, S.11
Moore, C.A.12
Dobyns, W.B.13
Murray, J.C.14
Price, R.A.15
-
24
-
-
0020625809
-
A case of partial deletion of the long arm of chromosome 7 (7q34→7qter)
-
Nistrup Madsen H, Lundsteen C, Steinrud J (1983): A case of partial deletion of the long arm of chromosome 7 (7q34→7qter). Danish Med Bulletin 30:14-16.
-
(1983)
Danish Med Bulletin
, vol.30
, pp. 14-16
-
-
Nistrup Madsen, H.1
Lundsteen, C.2
Steinrud, J.3
-
25
-
-
16444387207
-
Caudal deficiency sequence in a 7 year old girl with a terminal microdeletion of the long arm of chromosome 7 (7q36.3)
-
Petrusevska R, Seeger J, Fuchs S (1996): Caudal deficiency sequence in a 7 year old girl with a terminal microdeletion of the long arm of chromosome 7 (7q36.3). Med Genetik 1:88.
-
(1996)
Med Genetik
, vol.1
, pp. 88
-
-
Petrusevska, R.1
Seeger, J.2
Fuchs, S.3
-
26
-
-
0030294408
-
Mutations in the human sonic hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Münke M (1996): Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nature Genet 14:357-360.
-
(1996)
Nature Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.C.7
Münke, M.8
-
28
-
-
0029924653
-
Assignment of the 5-hydroxytryptamine (serotoni)receptor 5A gene (HTR5A) to human chromosome band 7q36.1
-
Schanen NC, Scherer SW, Tsui L-C, Francke U (1996): Assignment of the 5-hydroxytryptamine (serotoni)receptor 5A gene (HTR5A) to human chromosome band 7q36.1. Cytogenet Cell Genet 72:187-188.
-
(1996)
Cytogenet Cell Genet
, vol.72
, pp. 187-188
-
-
Schanen, N.C.1
Scherer, S.W.2
Tsui, L.-C.3
Francke, U.4
-
30
-
-
0020754685
-
Brief clinical report: Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]
-
Schwartz S, Meekins JA, Panny SR, Sun C-CJ, Cohen MM (1983): Brief clinical report: Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]. Am J Med Genet 15: 141-144.
-
(1983)
Am J Med Genet
, vol.15
, pp. 141-144
-
-
Schwartz, S.1
Meekins, J.A.2
Panny, S.R.3
Sun, C.-C.J.4
Cohen, M.M.5
-
31
-
-
0030039249
-
Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene
-
Song D-L, Chalepakis G, Gruss P, Joyner AL (1996): Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene. Development 122:627-635.
-
(1996)
Development
, vol.122
, pp. 627-635
-
-
Song, D.-L.1
Chalepakis, G.2
Gruss, P.3
Joyner, A.L.4
-
32
-
-
0028069495
-
Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization
-
Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994): Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization. Cytogenet Cell Genet 66:132-134.
-
(1994)
Cytogenet Cell Genet
, vol.66
, pp. 132-134
-
-
Tamura, T.1
Izumikawa, Y.2
Kishino, T.3
Soejima, H.4
Jinno, Y.5
Niikawa, N.6
-
33
-
-
0019976804
-
Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma
-
Taysi K, Burde RM, Rohrbaugh JR (1982): Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann Genet 25:159-161.
-
(1982)
Ann Genet
, vol.25
, pp. 159-161
-
-
Taysi, K.1
Burde, R.M.2
Rohrbaugh, J.R.3
-
35
-
-
0029042877
-
Report on the second international workshop on Human Chromosome 7 mapping 1994
-
Tsui L-C, Donis-Keller H, Grzeschik K-H (1995): Report on the second international workshop on Human Chromosome 7 mapping 1994. Cytogenet Cell Genet 71:1-31.
-
(1995)
Cytogenet Cell Genet
, vol.71
, pp. 1-31
-
-
Tsui, L.-C.1
Donis-Keller, H.2
Grzeschik, K.-H.3
-
37
-
-
0028912894
-
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay
-
Warburg M, Bugge M, Brøndum-Nielsen K (1995): Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet 32:19-24.
-
(1995)
J Med Genet
, vol.32
, pp. 19-24
-
-
Warburg, M.1
Bugge, M.2
Brøndum-Nielsen, K.3
-
38
-
-
0021361253
-
Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases
-
Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, Kawira EL, Bender HA (1984): Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases. Am J Med Genet 17:437-450.
-
(1984)
Am J Med Genet
, vol.17
, pp. 437-450
-
-
Young, R.S.1
Weaver, D.D.2
Kukolich, M.K.3
Heerema, N.A.4
Palmer, C.G.5
Kawira, E.L.6
Bender, H.A.7
|