-
1
-
-
0009465838
-
Linkage analysis to 1q32 markers in 6 novel Van der Woude syndrome families
-
Bahuau M, Houdayer C, Soupre V, Cougoureux E, Feldmann D, Aymard P, Munnich A, Martinez H, Lacombe D, Vazquez M-P. 1998. Linkage analysis to 1q32 markers in 6 novel Van der Woude syndrome families. Am J Hum Genet 63:A280.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Bahuau, M.1
Houdayer, C.2
Soupre, V.3
Cougoureux, E.4
Feldmann, D.5
Aymard, P.6
Munnich, A.7
Martinez, H.8
Lacombe, D.9
Vazquez, M.-P.10
-
2
-
-
0022873835
-
Lip pits and deletion 1q32-q41
-
Bocian M, Walker AP. 1987. Lip pits and deletion 1q32-q41. Am J Med Genet 26:437-443.
-
(1987)
Am J Med Genet
, vol.26
, pp. 437-443
-
-
Bocian, M.1
Walker, A.P.2
-
3
-
-
0030818315
-
Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
-
Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. 1997. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 61:40-50.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 40-50
-
-
Campbell, L.1
Potter, A.2
Ignatius, J.3
Dubowitz, V.4
Davies, K.5
-
4
-
-
0030863574
-
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
-
Carrozzo R, Rossi E, Christian SL, Kittikamron K, Livieri C, Corrias A, Pucci L, Fois A, Simi P, Bosio L, Beccaria L, Zuffardi O, Ledbetter DH. 1997. Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am J Hum Genet 61:228-231.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 228-231
-
-
Carrozzo, R.1
Rossi, E.2
Christian, S.L.3
Kittikamron, K.4
Livieri, C.5
Corrias, A.6
Pucci, L.7
Fois, A.8
Simi, P.9
Bosio, L.10
Beccaria, L.11
Zuffardi, O.12
Ledbetter, D.H.13
-
5
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163.
-
(1997)
Nat Genet
, vol.17
, pp. 154-163
-
-
Chen, K.S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
-
6
-
-
0031046839
-
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
-
Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. 1997. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6:147-155.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 147-155
-
-
Chong, S.S.1
Pack, S.D.2
Roschke, A.V.3
Tanigami, A.4
Carrozzo, R.5
Smith, A.C.6
Dobyns, W.B.7
Ledbetter, D.H.8
-
7
-
-
0029831686
-
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
-
Dutly F, Schinzel A. 1996. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 5:1893-1898.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1893-1898
-
-
Dutly, F.1
Schinzel, A.2
-
8
-
-
0031038030
-
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
-
Edwards SJ, Gladwin AJ, Dixon MJ. 1997. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 60:515-524.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 515-524
-
-
Edwards, S.J.1
Gladwin, A.J.2
Dixon, M.J.3
-
9
-
-
0021839541
-
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
-
Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, van Ommen G-JB, Pearson PL, Wedgwood RJ. 1985. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37:250-267.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 250-267
-
-
Francke, U.1
Ochs, H.D.2
De Martinville, B.3
Giacalone, J.4
Lindgren, V.5
Disteche, C.6
Pagon, R.A.7
Hofker, M.H.8
Van Ommen, G.-J.B.9
Pearson, P.L.10
Wedgwood, R.J.11
-
10
-
-
0023790820
-
Molecular basis and prenatal diagnosis of beta-thalassemia
-
Kazazian HH, Boehm CD. 1988. Molecular basis and prenatal diagnosis of beta-thalassemia. Blood 72:1107-1116.
-
(1988)
Blood
, vol.72
, pp. 1107-1116
-
-
Kazazian, H.H.1
Boehm, C.D.2
-
11
-
-
0032231873
-
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
-
Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JLR, Murray JC. 1998. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63:557-568.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 557-568
-
-
Lidral, A.C.1
Romitti, P.A.2
Basart, A.M.3
Doetschman, T.4
Leysens, N.J.5
Daack-Hirsch, S.6
Semina, E.V.7
Johnson, L.R.8
Machida, J.9
Burds, A.10
Parnell, T.J.11
Rubenstein, J.L.R.12
Murray, J.C.13
-
12
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
13
-
-
0029854517
-
Maternal alcohol use and risk of orofacial cleft birth defects
-
Munger RG, Romitti PA, Daack-Hirsch S, Burns TL, Murray JC, Hanson J. 1996. Maternal alcohol use and risk of orofacial cleft birth defects. Teratology 54:27-33.
-
(1996)
Teratology
, vol.54
, pp. 27-33
-
-
Munger, R.G.1
Romitti, P.A.2
Daack-Hirsch, S.3
Burns, T.L.4
Murray, J.C.5
Hanson, J.6
-
14
-
-
11944262571
-
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q
-
Murray JC, Nishimura DY, Buetow KH, Ardinger HH, Spence MA, Sparkes RS, Falk RE, Falk PM, Gardner RJ, Harkness EM, Glinski LP, Pauli RM, Nakamura Y, Green PP, Schinzel A. 1990. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am J Hum Genet 46:486-491.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 486-491
-
-
Murray, J.C.1
Nishimura, D.Y.2
Buetow, K.H.3
Ardinger, H.H.4
Spence, M.A.5
Sparkes, R.S.6
Falk, R.E.7
Falk, P.M.8
Gardner, R.J.9
Harkness, E.M.10
Glinski, L.P.11
Pauli, R.M.12
Nakamura, Y.13
Green, P.P.14
Schinzel, A.15
-
15
-
-
0023647951
-
Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints
-
Nicholls RD, Fischel-Ghodsian N, Higgs DR. 1987. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell 49:369-378.
-
(1987)
Cell
, vol.49
, pp. 369-378
-
-
Nicholls, R.D.1
Fischel-Ghodsian, N.2
Higgs, D.R.3
-
16
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
-
Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. 1995. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 56:1156-1161.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
McCaskill, C.4
Shaffer, L.G.5
-
17
-
-
0017130452
-
Delta-beta-thalassemia is due to a gene deletion
-
Ottolenghi S, Comi P, Giglioni B, Tolstoshev P, Lanyon WG, Mitchell GJ, Williamson R, Russo G, Musumeci S, Schillro G, Tsistrakis GA, Charache S, Wood WG, Clegg JB, Weatherall DJ. 1976. Delta-beta-thalassemia is due to a gene deletion. Cell 9:71-80.
-
(1976)
Cell
, vol.9
, pp. 71-80
-
-
Ottolenghi, S.1
Comi, P.2
Giglioni, B.3
Tolstoshev, P.4
Lanyon, W.G.5
Mitchell, G.J.6
Williamson, R.7
Russo, G.8
Musumeci, S.9
Schillro, G.10
Tsistrakis, G.A.11
Charache, S.12
Wood, W.G.13
Clegg, J.B.14
Weatherall, D.J.15
-
18
-
-
0016228694
-
The severe form of alpha thalasaemia is caused by a haemoglobin gene deletion
-
Ottolenghi S, Lanyon WG, Paul J, Williamson R, Weatherall DJ, Clegg JB, Pritchard J, Pootrakul S, Boon WH. 1974. The severe form of alpha thalasaemia is caused by a haemoglobin gene deletion. Nature 251: 389-392.
-
(1974)
Nature
, vol.251
, pp. 389-392
-
-
Ottolenghi, S.1
Lanyon, W.G.2
Paul, J.3
Williamson, R.4
Weatherall, D.J.5
Clegg, J.B.6
Pritchard, J.7
Pootrakul, S.8
Boon, W.H.9
-
20
-
-
0017125834
-
Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia
-
Ramirez F, O'Donnell JV, Marks PA, Bank A, Musumeci S, Schiliro G, Pizzarelli G, Russo G, Luppis B, Gambino R. 1976. Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia. Nature 263:471-475.
-
(1976)
Nature
, vol.263
, pp. 471-475
-
-
Ramirez, F.1
O'Donnell, J.V.2
Marks, P.A.3
Bank, A.4
Musumeci, S.5
Schiliro, G.6
Pizzarelli, G.7
Russo, G.8
Luppis, B.9
Gambino, R.10
-
21
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. 1996. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297.
-
(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
22
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11-q13
-
Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. 1998. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 35:130-136.
-
(1998)
J Med Genet
, vol.35
, pp. 130-136
-
-
Robinson, W.P.1
Dutly, F.2
Nicholls, R.D.3
Bernasconi, F.4
Penaherrera, M.5
Michaelis, R.C.6
Abeliovich, D.7
Schinzel, A.A.8
-
23
-
-
0027413157
-
Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree
-
Sander A, Moser H, Liechti-Gallati S, Grimm T, Zingg M, Raveh J. 1993. Linkage of Van der Woude syndrome (VWS) to REN and exclusion of the candidate gene TGFB2 from the disease locus in a large pedigree. Hum Genet 91:55-62.
-
(1993)
Hum Genet
, vol.91
, pp. 55-62
-
-
Sander, A.1
Moser, H.2
Liechti-Gallati, S.3
Grimm, T.4
Zingg, M.5
Raveh, J.6
-
24
-
-
0028896076
-
Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414
-
Sander A, Murray JC, Scherpbier-Heddema T, Buetow KH, Weissenbach J, Zingg M, Ludwig K, Schmelzle R. 1995. Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414. Am J Hum Genet 56:310-318.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 310-318
-
-
Sander, A.1
Murray, J.C.2
Scherpbier-Heddema, T.3
Buetow, K.H.4
Weissenbach, J.5
Zingg, M.6
Ludwig, K.7
Schmelzle, R.8
-
25
-
-
0028293311
-
Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome
-
Sander A, Schmelzle R, Murray J. 1994. Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. Hum Mol Genet 3:575-578.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 575-578
-
-
Sander, A.1
Schmelzle, R.2
Murray, J.3
-
26
-
-
0030587440
-
Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41
-
Schutte BC, Sander A, Malik M, Murray JC. 1996. Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41. Genomics 36:507-514.
-
(1996)
Genomics
, vol.36
, pp. 507-514
-
-
Schutte, B.C.1
Sander, A.2
Malik, M.3
Murray, J.C.4
-
27
-
-
0016144661
-
Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis)
-
Taylor JM, Dozy A, Kan YW, Varmus HE, Lie-Injo LE, Ganesan J, Todd D. 1974. Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature 251:392-393.
-
(1974)
Nature
, vol.251
, pp. 392-393
-
-
Taylor, J.M.1
Dozy, A.2
Kan, Y.W.3
Varmus, H.E.4
Lie-Injo, L.E.5
Ganesan, J.6
Todd, D.7
-
28
-
-
0029798778
-
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
-
Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donis-Keller H, Boyd CD. 1996. 7q11.23 Deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 59:958-962.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 958-962
-
-
Urban, Z.1
Helms, C.2
Fekete, G.3
Csiszar, K.4
Bonnet, D.5
Munnich, A.6
Donis-Keller, H.7
Boyd, C.D.8
-
29
-
-
0023094796
-
Linkage studies in a pedigree with Van der Woude syndrome
-
Wienker TF, Hudek G, Bissbort S, Mayerova A, Mauff G, Bender K. 1987. Linkage studies in a pedigree with Van der Woude syndrome. J Med Genet 24:160-162.
-
(1987)
J Med Genet
, vol.24
, pp. 160-162
-
-
Wienker, T.F.1
Hudek, G.2
Bissbort, S.3
Mayerova, A.4
Mauff, G.5
Bender, K.6
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