-
1
-
-
0035657701
-
Sperm morphological defects related to environment, lifestyle and medical history of 1001 male partners of pregnant women from four European cities
-
Auger J., Eustache F., Andersen A., Irvine D., Jørgensen N., Skakkebaek N., Suominen J., Toppari J., Vierula M., and Jouannet P. Sperm morphological defects related to environment, lifestyle and medical history of 1001 male partners of pregnant women from four European cities. Hum. Reprod. 16 (2001) 2710-2717
-
(2001)
Hum. Reprod.
, vol.16
, pp. 2710-2717
-
-
Auger, J.1
Eustache, F.2
Andersen, A.3
Irvine, D.4
Jørgensen, N.5
Skakkebaek, N.6
Suominen, J.7
Toppari, J.8
Vierula, M.9
Jouannet, P.10
-
2
-
-
23744487028
-
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
-
Barber J.C.K. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J. Med. Genet. 42 (2005) 609-629
-
(2005)
J. Med. Genet.
, vol.42
, pp. 609-629
-
-
Barber, J.C.K.1
-
3
-
-
33846015065
-
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation
-
Calounova G., Novotna D., Simandlova M., Havlovicova M., Zumrova A., Kocarek E., and Sedlacek Z. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. Neuroendocrinol. Lett. 27 (2006) 579-585
-
(2006)
Neuroendocrinol. Lett.
, vol.27
, pp. 579-585
-
-
Calounova, G.1
Novotna, D.2
Simandlova, M.3
Havlovicova, M.4
Zumrova, A.5
Kocarek, E.6
Sedlacek, Z.7
-
4
-
-
33845632943
-
Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46, XY, inv(1)(p22q42), associated with infertility
-
Chantot-Bastaraud S., Ravel C., Berthaut I., McElreavey K., Bouchard P., Mandelbaum J., and Siffroi J. Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46, XY, inv(1)(p22q42), associated with infertility. Mol. Hum. Reprod. 13 (2007) 55-59
-
(2007)
Mol. Hum. Reprod.
, vol.13
, pp. 55-59
-
-
Chantot-Bastaraud, S.1
Ravel, C.2
Berthaut, I.3
McElreavey, K.4
Bouchard, P.5
Mandelbaum, J.6
Siffroi, J.7
-
5
-
-
0345701222
-
Molecular cytogenetic detection of meiotic segregation patterns in sperm nuclei of carriers of 46, XY, t(15;17)(q21;q25)
-
Cora T., Acar H., and Kaynak M. Molecular cytogenetic detection of meiotic segregation patterns in sperm nuclei of carriers of 46, XY, t(15;17)(q21;q25). J. Androl. 23 (2002) 793-798
-
(2002)
J. Androl.
, vol.23
, pp. 793-798
-
-
Cora, T.1
Acar, H.2
Kaynak, M.3
-
6
-
-
0036707796
-
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient
-
Dupont J.M., Cuisset L., Cartigny M., Le Tessier D., Vasseur C., Rabineau D., and Jeanpierre M. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am. J. Med. Genet. 111 (2002) 405-408
-
(2002)
Am. J. Med. Genet.
, vol.111
, pp. 405-408
-
-
Dupont, J.M.1
Cuisset, L.2
Cartigny, M.3
Le Tessier, D.4
Vasseur, C.5
Rabineau, D.6
Jeanpierre, M.7
-
7
-
-
47149083630
-
Preimplantation genetic diagnosis for complex chromosome rearrangements
-
Escudero T., Estop A., Fischer J., and Munne S. Preimplantation genetic diagnosis for complex chromosome rearrangements. Am. J. Med. Genet. 146 (2008) 1662-1669
-
(2008)
Am. J. Med. Genet.
, vol.146
, pp. 1662-1669
-
-
Escudero, T.1
Estop, A.2
Fischer, J.3
Munne, S.4
-
8
-
-
0026635246
-
The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation
-
Estop A., Levinson F., Cieply K., and Vankirk V. The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation. Hum. Genet. 89 (1992) 425-429
-
(1992)
Hum. Genet.
, vol.89
, pp. 425-429
-
-
Estop, A.1
Levinson, F.2
Cieply, K.3
Vankirk, V.4
-
9
-
-
0034021649
-
Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations
-
Faraut T., Mermet M.A., Demongeot J., and Cohen O. Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet. Cell Genet. 88 (2000) 15-21
-
(2000)
Cytogenet. Cell Genet.
, vol.88
, pp. 15-21
-
-
Faraut, T.1
Mermet, M.A.2
Demongeot, J.3
Cohen, O.4
-
10
-
-
34547615984
-
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map
-
Feenstra I., Vissers L.E.L.M., Orsel M., Kessel A.G.v., Brunner H.G., Veltman J.A., and Ravenswaaij-Arts C.M.A.v. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am. J. Med. Genet. Part A 143A (2007) 1858-1867
-
(2007)
Am. J. Med. Genet. Part A
, vol.143 A
, pp. 1858-1867
-
-
Feenstra, I.1
Vissers, L.E.L.M.2
Orsel, M.3
Kessel, A.G.v.4
Brunner, H.G.5
Veltman, J.A.6
Ravenswaaij-Arts, C.M.A.v.7
-
12
-
-
0022908388
-
Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46, XY, t(19;22) and 46, XY, t(17;21)
-
Gabriel-Robez O., Ratomponirina C., Dutrillaux B., Carré-Pigeon F., and Rumpler Y. Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46, XY, t(19;22) and 46, XY, t(17;21). Cytogenet. Cell. Genet. 43 (1986) 154-160
-
(1986)
Cytogenet. Cell. Genet.
, vol.43
, pp. 154-160
-
-
Gabriel-Robez, O.1
Ratomponirina, C.2
Dutrillaux, B.3
Carré-Pigeon, F.4
Rumpler, Y.5
-
13
-
-
0024406412
-
Genetic aspects of artificial insemination with donor semen: the French CECOS Federation guidelines
-
Jalbert P., Leonard C., Selva J., and David G. Genetic aspects of artificial insemination with donor semen: the French CECOS Federation guidelines. Am. J. Med. Genet. 33 (1989) 269-275
-
(1989)
Am. J. Med. Genet.
, vol.33
, pp. 269-275
-
-
Jalbert, P.1
Leonard, C.2
Selva, J.3
David, G.4
-
14
-
-
0021223483
-
Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle
-
Luciani J., Guichaoua M., Mattei A., and Morazzani M. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet. Cell. Genet. 38 (1984) 14-22
-
(1984)
Cytogenet. Cell. Genet.
, vol.38
, pp. 14-22
-
-
Luciani, J.1
Guichaoua, M.2
Mattei, A.3
Morazzani, M.4
-
15
-
-
26244460166
-
Somatic chromosomal abnormalities in infertile men and women
-
Mau-Holzmann U. Somatic chromosomal abnormalities in infertile men and women. Cytogenet. Genome. Res. 111 (2005) 317-336
-
(2005)
Cytogenet. Genome. Res.
, vol.111
, pp. 317-336
-
-
Mau-Holzmann, U.1
-
16
-
-
1642341252
-
Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers
-
Morel F., Douet-Guilbert N., Roux C., Tripogney C., Le Bris M., De Braekeleer M., and Bresson J. Meiotic segregation of a t(7;8)(q11.21;cen) translocation in two carrier brothers. Fertil. Steril. 81 (2004) 682-685
-
(2004)
Fertil. Steril.
, vol.81
, pp. 682-685
-
-
Morel, F.1
Douet-Guilbert, N.2
Roux, C.3
Tripogney, C.4
Le Bris, M.5
De Braekeleer, M.6
Bresson, J.7
-
17
-
-
0036490364
-
Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities
-
Munné S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod. Biomed. Online 4 (2002) 183-196
-
(2002)
Reprod. Biomed. Online
, vol.4
, pp. 183-196
-
-
Munné, S.1
-
18
-
-
26244459443
-
Male infertility in reciprocal translocation carriers: the sex body affair
-
Oliver-Bonet M., Ko E., and Martin R. Male infertility in reciprocal translocation carriers: the sex body affair. Cytogenet. Genome. Res. 111 (2005) 343-346
-
(2005)
Cytogenet. Genome. Res.
, vol.111
, pp. 343-346
-
-
Oliver-Bonet, M.1
Ko, E.2
Martin, R.3
-
19
-
-
34247882045
-
Meiotic segregation in spermatozoa of a 45, XY,-14, der(18)t(14;18)(q11;p11.3) translocation carrier: a case report
-
Perrin A., Douet-Guilbert N., Laudier B., Couet M.L., Guerif F., Royere D., Le Bris M.J., De Braekeleer M., and Morel F. Meiotic segregation in spermatozoa of a 45, XY,-14, der(18)t(14;18)(q11;p11.3) translocation carrier: a case report. Hum. Reprod. 22 (2007) 729-732
-
(2007)
Hum. Reprod.
, vol.22
, pp. 729-732
-
-
Perrin, A.1
Douet-Guilbert, N.2
Laudier, B.3
Couet, M.L.4
Guerif, F.5
Royere, D.6
Le Bris, M.J.7
De Braekeleer, M.8
Morel, F.9
-
21
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S., Fitch K., Feuk L., Perry G., Andrews T., Fiegler H., Shapero M., Carson A., Chen W., et al. Global variation in copy number in the human genome. Nature 444 (2006)
-
(2006)
Nature
, vol.444
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.3
Feuk, L.4
Perry, G.5
Andrews, T.6
Fiegler, H.7
Shapero, M.8
Carson, A.9
Chen, W.10
-
22
-
-
0028869099
-
Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization
-
Rousseaux S., Chevret E., Monteil M., Cozzi J., Pelletier R., Devillard F., Lespinasse J., and Sèle B. Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization. Cytogenet. Cell. Genet. 71 (1995) 240-246
-
(1995)
Cytogenet. Cell. Genet.
, vol.71
, pp. 240-246
-
-
Rousseaux, S.1
Chevret, E.2
Monteil, M.3
Cozzi, J.4
Pelletier, R.5
Devillard, F.6
Lespinasse, J.7
Sèle, B.8
-
23
-
-
26244453150
-
Segregation of chromosomes in sperm of Robertsonian translocation carriers
-
Roux C., Tripogney C., Morel F., Joanne C., Fellmann F., Clavequin M., and Bresson J. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet. Genome. Res. 111 (2005) 291-296
-
(2005)
Cytogenet. Genome. Res.
, vol.111
, pp. 291-296
-
-
Roux, C.1
Tripogney, C.2
Morel, F.3
Joanne, C.4
Fellmann, F.5
Clavequin, M.6
Bresson, J.7
-
24
-
-
10844293482
-
Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations
-
Ruggeri A., Dulcetti F., Miozzo M., Grati F., Grimi B., Bellato S., Natacci F., Maggi F., and Simoni G. Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations. Prenat. Diagn. 24 (2004) 997-1000
-
(2004)
Prenat. Diagn.
, vol.24
, pp. 997-1000
-
-
Ruggeri, A.1
Dulcetti, F.2
Miozzo, M.3
Grati, F.4
Grimi, B.5
Bellato, S.6
Natacci, F.7
Maggi, F.8
Simoni, G.9
-
25
-
-
0028081050
-
Intrachromosomal triplication of 15q11-q13
-
Schinzel A.A., Brecevic L., Bernasconi F., Binkert F., Berthet F., Wuilloud A., and Robinson W.P. Intrachromosomal triplication of 15q11-q13. J. Med. Genet. 31 (1994) 798-803
-
(1994)
J. Med. Genet.
, vol.31
, pp. 798-803
-
-
Schinzel, A.A.1
Brecevic, L.2
Bernasconi, F.3
Binkert, F.4
Berthet, F.5
Wuilloud, A.6
Robinson, W.P.7
-
26
-
-
0026566594
-
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
-
Smeets D., Hamel B., Nelen M., Smeets H., Bollen J., Smits A., Ropers H.-H., and van Oost B. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N. Engl. J. Med. 326 (1992) 807-811
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 807-811
-
-
Smeets, D.1
Hamel, B.2
Nelen, M.3
Smeets, H.4
Bollen, J.5
Smits, A.6
Ropers, H.-H.7
van Oost, B.8
-
27
-
-
0028210810
-
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
-
Smith A., Deng Z.M., Beran R., Woodage T., and Trent R.J. Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. Hum. Genet. 93 (1994) 471-473
-
(1994)
Hum. Genet.
, vol.93
, pp. 471-473
-
-
Smith, A.1
Deng, Z.M.2
Beran, R.3
Woodage, T.4
Trent, R.J.5
-
28
-
-
0035136724
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
-
Ungaro P., Christian S., Fantes J., Mutirangura A., Black S., Reynolds J., Malcolm S., Dobyns W., and Ledbetter D. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J. Med. Genet. 38 (2001) 26-34
-
(2001)
J. Med. Genet.
, vol.38
, pp. 26-34
-
-
Ungaro, P.1
Christian, S.2
Fantes, J.3
Mutirangura, A.4
Black, S.5
Reynolds, J.6
Malcolm, S.7
Dobyns, W.8
Ledbetter, D.9
-
29
-
-
0020062543
-
Meiotic and synaptonemal complex studies in a 14/21 translocation carrier
-
Vidal F., Templado C., Navarro J., Marina S., and Egozcue J. Meiotic and synaptonemal complex studies in a 14/21 translocation carrier. Int. J. Androl. 5 (1982) 21-26
-
(1982)
Int. J. Androl.
, vol.5
, pp. 21-26
-
-
Vidal, F.1
Templado, C.2
Navarro, J.3
Marina, S.4
Egozcue, J.5
-
30
-
-
0031740809
-
Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16
-
Wang J.C., Mamunes P., Kou S.Y., Schmidt J., Mao R., and Hsu W.T. Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am. J. Med. Genet. 80 (1998) 418-422
-
(1998)
Am. J. Med. Genet.
, vol.80
, pp. 418-422
-
-
Wang, J.C.1
Mamunes, P.2
Kou, S.Y.3
Schmidt, J.4
Mao, R.5
Hsu, W.T.6
-
31
-
-
39149113845
-
Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: a case report
-
Wiland E., Hobel C., Hill D., and Kurpisz M. Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: a case report. Prenat. Diagn. 28 (2008) 36-41
-
(2008)
Prenat. Diagn.
, vol.28
, pp. 36-41
-
-
Wiland, E.1
Hobel, C.2
Hill, D.3
Kurpisz, M.4
-
33
-
-
35448992970
-
Germ-line DNA copy number variation frequencies in a large North American population
-
Zogopoulos G., Ha K., Naqib F., Moore S., Kim H., Montpetit A., Robidoux F., Laflamme P., Cotterchio M., Greenwood C., et al. Germ-line DNA copy number variation frequencies in a large North American population. Hum. Genet. 122 (2007) 345-353
-
(2007)
Hum. Genet.
, vol.122
, pp. 345-353
-
-
Zogopoulos, G.1
Ha, K.2
Naqib, F.3
Moore, S.4
Kim, H.5
Montpetit, A.6
Robidoux, F.7
Laflamme, P.8
Cotterchio, M.9
Greenwood, C.10
|