-
1
-
-
0038003011
-
Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p
-
DOI 10.1016/S0003-3995(03)00002-9
-
Ahlbom, B.E., Wahlström, J., Saalman, R., Wadelius, C., Annerén, G., 2003. Severe psychomotor retardation in a boy with supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p. Ann. Genet. 46, 29-35. (Pubitemid 36736284)
-
(2003)
Annales de Genetique
, vol.46
, Issue.1
, pp. 29-35
-
-
Ahlbom, B.E.1
Wahlstrom, J.2
Saalman, R.3
Wadelius, C.4
Anneren, G.5
-
2
-
-
44949206538
-
Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer
-
DOI 10.1159/000124376
-
Bakshi, S.R., Dave, B.J., Sanger, W., Brahmbhatt, M.M., Trivedi, P.J., Kakadia, P.M., Patel, S.J., 2008. Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer. Cytogenet. Genome Res. 121, 14-17. (Pubitemid 351820625)
-
(2008)
Cytogenetic and Genome Research
, vol.121
, Issue.1
, pp. 14-17
-
-
Bakshi, S.R.1
Dave, B.J.2
Sanger, W.3
Brahmbhatt, M.M.4
Trivedi, P.J.5
Kakadia, P.M.6
Patel, S.J.7
-
3
-
-
40749147287
-
Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues
-
DOI 10.1016/j.ajhg.2007.10.013, PII S000292970800092X
-
Baldwin, E.L., May, L.F., Justice, A.N., Martin, C.L., Ledbetter, D.H., 2008. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counselling issues. Am. J. Hum. Genet. 82, 398-410. (Pubitemid 351726107)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.2
, pp. 398-410
-
-
Baldwin, E.L.1
May, L.F.2
Justice, A.N.3
Martin, C.L.4
Ledbetter, D.H.5
-
4
-
-
58149237890
-
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
-
Battaglia, A., 2008. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J. Rare Dis. 30, 1-7.
-
(2008)
Orphanet J. Rare Dis.
, vol.30
, pp. 1-7
-
-
Battaglia, A.1
-
5
-
-
0021917574
-
Forty four probands with an additional 'marker' chromosome
-
DOI 10.1007/BF00291656
-
Buckton, K.E., Spowart, G., Newton, M.S., Evans, H.J., 1985. Forty four probands with an additional 'marker' chromosome. Hum. Genet. 69, 353-370. (Pubitemid 15102259)
-
(1985)
Human Genetics
, vol.69
, Issue.4
, pp. 353-370
-
-
Buckton, K.E.1
Spowart, G.2
Newton, M.S.3
Evans, H.J.4
-
6
-
-
77955418561
-
Genetic abnormalities in Turkish women with premature ovarian failure
-
Ceylaner, G., Altinkaya, S.O., Mollamahmutoglu, L., Ceylaner, S., 2010. Genetic abnormalities in Turkish women with premature ovarian failure. Int. J. Gynaecol. Obstet. 110, 122-124.
-
(2010)
Int. J. Gynaecol. Obstet.
, vol.110
, pp. 122-124
-
-
Ceylaner, G.1
Altinkaya, S.O.2
Mollamahmutoglu, L.3
Ceylaner, S.4
-
7
-
-
77952744975
-
Genome-wide association study and premature ovarian failure
-
Christin-Maitre, S., Tachdjian, G., 2010. Genome-wide association study and premature ovarian failure. Ann. Endocrinol. 71, 218-221.
-
(2010)
Ann. Endocrinol.
, vol.71
, pp. 218-221
-
-
Christin-Maitre, S.1
Tachdjian, G.2
-
8
-
-
0034535486
-
Segregation of a supernumerary del(15) marker chromosome in sperm
-
DOI 10.1034/j.1399-0004.2000.580611.x
-
Cotter, P.D., Ko, E., Larabell, S.K., Rademaker, A.W., Martin, R.H., 2000. Segregation of a supernumerary del(15) marker chromosome in sperm. Clin. Genet. 58, 488-492. (Pubitemid 32000753)
-
(2000)
Clinical Genetics
, vol.58
, Issue.6
, pp. 488-492
-
-
Cotter, P.D.1
Ko, E.2
Larabell, S.K.3
Rademaker, A.W.4
Martin, R.H.5
-
9
-
-
0036665170
-
Supernumerary marker chromosomes derived from chromosome 15: Analysis of 32 new cases
-
DOI 10.1034/j.1399-0004.2002.620113.x
-
Eggermann, K., Mau, U.A., Bujdoso, G., Koltai, E., Engels, H., Schubert, R., Eggermann, T., Raff, R., Schwanitz, G., 2002. Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin. Genet. 62, 89-93. (Pubitemid 36372703)
-
(2002)
Clinical Genetics
, vol.62
, Issue.1
, pp. 89-93
-
-
Eggermann, K.1
Mau, U.A.2
Bujdoso, G.3
Koltai, E.4
Engels, H.5
Schubert, R.6
Eggermann, T.7
Raff, R.8
Schwanitz, G.9
-
10
-
-
0017158429
-
Spermatogenesis in an infertile XYY male
-
Faed, M., Robertson, J., MacIntosh, W.G., Grieve, J., 1976. Spermatogenesis in an infertile XYY male. Hum. Genet. 33, 341-347.
-
(1976)
Hum. Genet.
, vol.33
, pp. 341-347
-
-
Faed, M.1
Robertson, J.2
MacIntosh, W.G.3
Grieve, J.4
-
11
-
-
69949148004
-
A primate-specific POTE-actin fusion protein plays a role in apoptosis
-
Fen Liu, X., Bera, T.K., Liu, L.J., Pastan, I., 2009. A primate-specific POTE-actin fusion protein plays a role in apoptosis. Apoptosis 14, 1237-1244.
-
(2009)
Apoptosis
, vol.14
, pp. 1237-1244
-
-
Fen Liu, X.1
Bera, T.K.2
Liu, L.J.3
Pastan, I.4
-
12
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
-
DOI 10.1007/s004390050301
-
Huang, B., Crolla, J.A., Christian, S.L., Wolf-Ledbetter, M.E., Macha, M.E., Papenhausen, P.N., Ledbetter, D.H., 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum. Genet. 99, 11-17. (Pubitemid 26419846)
-
(1997)
Human Genetics
, vol.99
, Issue.1
, pp. 11-17
-
-
Huang, B.1
Crolla, J.A.2
Christian, S.L.3
Wolf-Ledbetter, M.E.4
Macha, M.E.5
Papenhausen, P.N.6
Ledbetter, D.H.7
-
13
-
-
36849026145
-
Expression of POTE protein in human testis detected by novel monoclonal antibodies
-
DOI 10.1016/j.bbrc.2007.10.195, PII S0006291X07023509
-
Ise, T., Das, S., Nagata, S., Maeda, H., Lee, Y., Onda, M., Anver, M.R., Bera, T.K., Pastan, I., 2008. Expression of POTE protein in human testis detected by novel monoclonal antibodies. Biochem. Biophys. Res. Commun. 4, 603-608. (Pubitemid 350234835)
-
(2008)
Biochemical and Biophysical Research Communications
, vol.365
, Issue.4
, pp. 603-608
-
-
Ise, T.1
Das, S.2
Nagata, S.3
Maeda, H.4
Lee, Y.5
Onda, M.6
Anver, M.R.7
Bera, T.K.8
Pastan, I.9
-
14
-
-
0028241087
-
Supernumerary chromosomes and spermatogenesis in a human male carrier
-
DOI 10.1007/BF02272845
-
Jaafar, H., Gabriel-Robez, O., Vignon, F., Flori, E., Rumpler, Y., 1994. Supernumerary chromosomes and spermatogenesis in human male carrier. Hum. Genet. 94, 74-76. (Pubitemid 24214834)
-
(1994)
Human Genetics
, vol.94
, Issue.1
, pp. 74-76
-
-
Jaafar, H.1
Gabriel-Robez, O.2
Vignon, F.3
Flori, E.4
Rumpler, Y.5
-
15
-
-
70349160789
-
Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity
-
Koç, A., Onur, O., Ergün, M.A., Perçin, F., 2009. Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity. Asian J. Androl. 11, 617-622.
-
(2009)
Asian J. Androl.
, vol.11
, pp. 617-622
-
-
Koç, A.1
Onur, O.2
Ergün, M.A.3
Perçin, F.4
-
16
-
-
79952216712
-
Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients
-
Lakhal, B., Braham, R., Berguigua, R., Bouali, N., Zaouali, M., Chaieb, M., Veitia, R.A., Saad, A., Elghezal, H., 2010. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clin. Genet. 78, 181-185.
-
(2010)
Clin. Genet.
, vol.78
, pp. 181-185
-
-
Lakhal, B.1
Braham, R.2
Berguigua, R.3
Bouali, N.4
Zaouali, M.5
Chaieb, M.6
Veitia, R.A.7
Saad, A.8
Elghezal, H.9
-
17
-
-
34248544965
-
Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
-
Liehr, T., Weise, A., 2007. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int. J. Mol. Med. 19, 719-731.
-
(2007)
Int. J. Mol. Med.
, vol.19
, pp. 719-731
-
-
Liehr, T.1
Weise, A.2
-
18
-
-
33747889480
-
Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line [2]
-
DOI 10.1097/00125817-200607000-00011, PII 0012581720060700000011
-
Liehr, T., 2006. Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line. Genet. Med. 8, 459-462. (Pubitemid 44289010)
-
(2006)
Genetics in Medicine
, vol.8
, Issue.7
, pp. 459-462
-
-
Liehr, T.1
-
19
-
-
4344625842
-
Small supernumerary marker chromosomes (sSMC) in humans
-
DOI 10.1159/000079572
-
Liehr, T., Claussen, U., Starke, H., 2004. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet. Genome Res. 107, 55-67. (Pubitemid 39140346)
-
(2004)
Cytogenetic and Genome Research
, vol.107
, Issue.1-2
, pp. 55-67
-
-
Liehr, T.1
Claussen, U.2
Starke, H.3
-
20
-
-
84855342602
-
-
Available from
-
Liehr, T. Available from: 〈http://www.med.uni-jena.de/fish/sSMC/ 00START.htm/〉.
-
-
-
Liehr, T.1
-
21
-
-
47649097067
-
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature
-
Manvelyan, M., Riegel, M., Santos, M., Fuster, C., Pellestor, F., Mazaurik, M.L., Schulze, B., Polityko, A., Tittelbach, H., Reising-Ackermann, G., Belitz, B., Hehr, U., Kelbova, C., Volleth, M., Gödde, E., Anderson, J., Küpferling, P., Köhler, S., Duba, H.C., Dufke, A., Aktas, D., Martin, T., Schreyer, I., Ewers, E., Reich, D., Mrasek, K., Weise, A., Liehr, T., 2008. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int. J. Mol. Med. 21, 705-714.
-
(2008)
Int. J. Mol. Med.
, vol.21
, pp. 705-714
-
-
Manvelyan, M.1
Riegel, M.2
Santos, M.3
Fuster, C.4
Pellestor, F.5
Mazaurik, M.L.6
Schulze, B.7
Polityko, A.8
Tittelbach, H.9
Reising-Ackermann, G.10
Belitz, B.11
Hehr, U.12
Kelbova, C.13
Volleth, M.14
Gödde, E.15
Anderson, J.16
Küpferling, P.17
Köhler, S.18
Duba, H.C.19
Dufke, A.20
Aktas, D.21
Martin, T.22
Schreyer, I.23
Ewers, E.24
Reich, D.25
Mrasek, K.26
Weise, A.27
Liehr, T.28
more..
-
22
-
-
0022504711
-
The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes
-
Martin, R.H., Hildebrand, K.A., Yamamoto, J., Peterson, D., Rademaker, A.W., Taylor, P., Lin, C.C., 1986. The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes. Am. J. Med. Genet. 25, 381-388. (Pubitemid 16033180)
-
(1986)
American Journal of Medical Genetics
, vol.25
, Issue.2
, pp. 381-388
-
-
Martin, R.H.1
Hildebrand, K.A.2
Yamamoto, J.3
-
23
-
-
1842411314
-
Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection
-
Mau, U.A., Bäckert, I.T., Kaiser, P., Kiesel, L., 1997. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum. Reprod. 12, 930-937. (Pubitemid 27271747)
-
(1997)
Human Reproduction
, vol.12
, Issue.5
, pp. 930-937
-
-
Mau, U.A.1
Backert, I.T.2
Kaiser, P.3
Kiesel, L.4
-
24
-
-
0031469084
-
Molecular cytogenetic diagnostics in sperm
-
Mennicke, K., Diercks, P., Schlieker, H., Bals-Pratsch, M., Al Hasani, S., Dietrich, K., Schwinger, E., 1997. Molecular cytogenetic diagnostics in sperm. Int. J. Androl. 20, 11-19. (Pubitemid 28025307)
-
(1997)
International Journal of Andrology, Supplement
, vol.20
, Issue.3
, pp. 11-19
-
-
Mennicke, K.1
Diercks, P.2
Schlieker, H.3
Bals-Pratsch, M.4
Al, H.S.5
Diedrich, K.6
Schwinger, E.7
-
25
-
-
65549137061
-
Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome
-
Oracova, E., Musilova, P., Kopecna, O., Rybar, R., Vozdova, M., Vesela, K., Rubes, J., 2009. Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome. J. Androl. 30, 233-239.
-
(2009)
J. Androl.
, vol.30
, pp. 233-239
-
-
Oracova, E.1
Musilova, P.2
Kopecna, O.3
Rybar, R.4
Vozdova, M.5
Vesela, K.6
Rubes, J.7
-
26
-
-
34347375168
-
Sperm analysis, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15
-
Paetzold, U., Schwanitz, G., Schubert, R., Van der Ven, K., Montag, M., 2006. Sperm analysis, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15. Adv. Med. Sci. 51, 31-35.
-
(2006)
Adv. Med. Sci.
, vol.51
, pp. 31-35
-
-
Paetzold, U.1
Schwanitz, G.2
Schubert, R.3
Van Der Ven, K.4
Montag, M.5
-
27
-
-
0033393199
-
Synaptonemal complex analysis in human male infertility
-
Solari, A.J., 1999. Synaptonemal complex analysis in human male infertility. Eur. J. Histochem. 43, 265-276. (Pubitemid 30052183)
-
(1999)
European Journal of Histochemistry
, vol.43
, Issue.4
, pp. 265-276
-
-
Solari, A.J.1
-
28
-
-
0020525803
-
Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction
-
DOI 10.1007/BF00292376
-
Steinbach, P., Djalali, M., 1983. Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction. Hum. Genet. 64, 402-403. (Pubitemid 13006067)
-
(1983)
Human Genetics
, vol.64
, Issue.4
, pp. 402-403
-
-
Steinbach, P.1
Djalali, M.2
-
29
-
-
26244449097
-
Frequency and distribution of chromosome abnormalities in human spermatozoa
-
DOI 10.1159/000086890
-
Templado, C., Bosch, M., Benet, J., 2005. Frequency and distribution of chromosome abnormalities in human spermatozoa. Cytogenet. Genome Res. 111, 199-205. (Pubitemid 41414469)
-
(2005)
Cytogenetic and Genome Research
, vol.111
, Issue.3-4
, pp. 199-205
-
-
Templado, C.1
Bosch, M.2
Benet, J.3
-
30
-
-
77954955040
-
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
-
Epub 2010 Apr 28
-
Tosca, L., Brisset, S., Petit, F.M., Lecerf, L., Rousseau, G., Bas, C., Laroudie, M., Maurin, M.L., Tapia, S., Picone, O., Prevot, S., Goossens, M., Labrune, P., Tachdjian, G., 2010. Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism. Eur. J. Hum. Genet. 18, 882-888, Epub 2010 Apr 28.
-
(2010)
Eur. J. Hum. Genet.
, vol.18
, pp. 882-888
-
-
Tosca, L.1
Brisset, S.2
Petit, F.M.3
Lecerf, L.4
Rousseau, G.5
Bas, C.6
Laroudie, M.7
Maurin, M.L.8
Tapia, S.9
Picone, O.10
Prevot, S.11
Goossens, M.12
Labrune, P.13
Tachdjian, G.14
-
31
-
-
3242710286
-
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
-
DOI 10.1086/422854
-
Wang, N.J., Liu, D., Parokonny, A.S., Schanen, N.C., 2004. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (Array CGH) with detection of gene dosage. Am. J. Hum. Genet. 75, 267-281. (Pubitemid 38943870)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.2
, pp. 267-281
-
-
Wang, N.J.1
Liu, D.2
Parokonny, A.S.3
Schanen, N.C.4
-
32
-
-
15944399970
-
Segregation of the marker chromosome der(20) in the sperm of a male with karyotype 46,XY[96]/47,XY+mar[4]
-
Wiland, E., Jarmuz, M., Kurpisz, M., 2005. Segregation of the marker chromosome der(20) in the sperm of a male with karyotype 46,XX(96)/47,XY+mar(4). Med. Sci. Monit. 11, CS9-CS15. (Pubitemid 40445988)
-
(2005)
Medical Science Monitor
, vol.11
, Issue.3
-
-
Wiland, E.1
Jarmuz, M.2
Kurpisz, M.3
-
33
-
-
77951222450
-
Expression of tumor-specific antigen MAGE, GAGE and BAGE in ovarian cancer tissues and cell lines
-
Zhang, S., Zhou, X., Yu, H., Yu, Y., 2010. Expression of tumor-specific antigen MAGE, GAGE and BAGE in ovarian cancer tissues and cell lines. BMC Cancer 10, 163.
-
(2010)
BMC Cancer
, vol.10
, pp. 163
-
-
Zhang, S.1
Zhou, X.2
Yu, H.3
Yu, Y.4
|