-
1
-
-
34447316145
-
International estimates of infertility prevalence and treatment-seeking: Potential need and demand for infertility medical care
-
DOI 10.1093/humrep/dem046
-
Boivin J, Bunting L, Collins JA, Nygren KG. International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod: 2007; 22 6 1506 1512 (Pubitemid 47055136)
-
(2007)
Human Reproduction
, vol.22
, Issue.6
, pp. 1506-1512
-
-
Boivin, J.1
Bunting, L.2
Collins, J.A.3
Nygren, K.G.4
-
2
-
-
20344402778
-
Definition and prevalence of subfertility and infertility
-
DOI 10.1093/humrep/deh870
-
Gnoth C, Godehardt E, Frank-Herrmann P, Friol K, Tigges J, Freundl G. Definition and prevalence of subfertility and infertility. Hum Reprod: 2005; 20 5 1144 1147 (Pubitemid 40790235)
-
(2005)
Human Reproduction
, vol.20
, Issue.5
, pp. 1144-1147
-
-
Gnoth, C.1
Godehardt, E.2
Frank-Herrmann, P.3
Friol, K.4
Tigges, J.5
Freundl, G.6
-
3
-
-
0041322592
-
ABC of subfertility: Extent of the problem
-
Taylor A. ABC of subfertility: extent of the problem. BMJ: 2003; 327 7412 434 436 (Pubitemid 37046790)
-
(2003)
British Medical Journal
, vol.327
, Issue.7412
, pp. 434-436
-
-
Taylor, A.1
-
4
-
-
78651378168
-
-
In: Lipshultz L. Howards S. Niederberger C. eds. Infertility in the male. 4th ed New York, NY Cambridge University Press
-
Sigman M, Lipshultz L, Howards S. Office evaluation of the subfertile male. In: Lipshultz L, Howards S, Niederberger C. eds. Infertility in the male. 4th ed. New York, NY Cambridge University Press: 2009; 153 176
-
(2009)
Office Evaluation of the Subfertile Male
, pp. 153-176
-
-
Sigman, M.1
Lipshultz, L.2
Howards, S.3
-
5
-
-
0036161218
-
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia
-
Dohle GR, Halley DJ, Van Hemel JO., et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod: 2002; 17 1 13 16 (Pubitemid 34130254)
-
(2002)
Human Reproduction
, vol.17
, Issue.1
, pp. 13-16
-
-
Dohle, G.R.1
Halley, D.J.J.2
Van Hemel, J.O.3
Van Den Ouwel, A.M.W.4
Pieters, M.H.E.C.5
Weber, R.F.A.6
Govaerts, L.C.P.7
-
6
-
-
55549115368
-
The biology of infertility: Research advances and clinical challenges
-
Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med: 2008; 14 11 1197 1213
-
(2008)
Nat Med
, vol.14
, Issue.11
, pp. 1197-1213
-
-
Matzuk, M.M.1
Lamb, D.J.2
-
7
-
-
42449135444
-
Gene polymorphisms/mutations relevant to abnormal spermatogenesis
-
Nuti F, Krausz C. Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online: 2008; 16 4 504 513 (Pubitemid 351566165)
-
(2008)
Reproductive BioMedicine Online
, vol.16
, Issue.4
, pp. 504-513
-
-
Nuti, F.1
Krausz, C.2
-
9
-
-
77749240212
-
Clinical Review#: State of the art for genetic testing of infertile men
-
McLachlan RI, O'Bryan MK. Clinical Review#: State of the art for genetic testing of infertile men. J Clin Endocrinol Metab: 2010; 95 3 1013 1024
-
(2010)
J Clin Endocrinol Metab
, vol.95
, Issue.3
, pp. 1013-1024
-
-
McLachlan, R.I.1
O'Bryan, M.K.2
-
10
-
-
78651347602
-
Clinical evaluation of the infertile male with respect to genetic etiologies
-
Oates RD. Clinical evaluation of the infertile male with respect to genetic etiologies. Syst Biol Reprod Med: 2011; 57 1-2 72 77
-
(2011)
Syst Biol Reprod Med
, vol.57
, Issue.12
, pp. 72-77
-
-
Oates, R.D.1
-
11
-
-
0032910057
-
Testicular sperm extraction: Microdissection improves sperm yield with minimal tissue excision
-
DOI 10.1093/humrep/14.1.131
-
Schlegel PN. Testicular sperm extraction: microdissection improves sperm yield with minimal tissue excision. Hum Reprod: 1999; 14 1 131 135 (Pubitemid 29046327)
-
(1999)
Human Reproduction
, vol.14
, Issue.1
, pp. 131-135
-
-
Schlegel, P.N.1
-
12
-
-
78649974912
-
Update on surgical sperm recoverythe European view
-
Tournaye H. Update on surgical sperm recoverythe European view. Hum Fertil (Camb): 2010; 13 4 242 246
-
(2010)
Hum Fertil (Camb)
, vol.13
, Issue.4
, pp. 242-246
-
-
Tournaye, H.1
-
13
-
-
0035184973
-
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
-
DOI 10.1038/ng757
-
Kuroda-Kawaguchi T, Skaletsky H, Brown LG., et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet: 2001; 29 3 279 286 (Pubitemid 33096452)
-
(2001)
Nature Genetics
, vol.29
, Issue.3
, pp. 279-286
-
-
Kuroda-Kawaguchi, T.1
Skaletsky, H.2
Brown, L.G.3
Minx, P.J.4
Cordum, H.S.5
Waterston, R.H.6
Wilson, R.K.7
Silber, S.8
Oates, R.9
Rozen, S.10
Page, D.C.11
-
14
-
-
77955408331
-
Genetic dissection of the AZF regions of the human y chromosome: Thriller or filler for male (in)fertility
-
Navarro-Costa P, Plancha CE, Gonalves J. Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? J Biomed Biotechnol: 2010; 2010 936569
-
(2010)
J Biomed Biotechnol
, vol.2010
, pp. 936569
-
-
Navarro-Costa, P.1
Plancha, C.E.2
Gonalves, J.3
-
15
-
-
0037967242
-
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
-
DOI 10.1038/nature01722
-
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ., et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature: 2003; 423 6942 825 837 (Pubitemid 36781267)
-
(2003)
Nature
, vol.423
, Issue.6942
, pp. 825-837
-
-
Skaletsky, H.1
Kuroda-Kawaguchl, T.2
Minx, P.J.3
Cordum, H.S.4
Hlllier, L.5
Brown, L.G.6
Repplng, S.7
Pyntikova, T.8
All, J.9
Blerl, T.10
Chinwalla, A.11
Delehaunty, A.12
Du, H.13
Fewell, G.14
Fulton, L.15
Fulton, R.16
Graves, T.17
Hou, S.-F.18
Latrielle, P.19
Leonard, S.20
Mardis, E.21
Maupin, R.22
McPherson, J.23
Miner, T.24
Nash, W.25
Nguyen, C.26
Ozersky, P.27
Pepin, K.28
Rock, S.29
Rohlfing, T.30
Scott, K.31
Schultz, B.32
Strong, C.33
Tin-Wollam, A.34
Yang, S.-P.35
Waterston, R.H.36
Wllson, R.K.37
Rozen, S.38
Page, D.C.39
more..
-
16
-
-
0029088061
-
Diverse spermatogenic defects in humans caused by y chromosome deletions encompassing a novel RNA-binding protein gene
-
Reijo R, Lee TY, Salo P., et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet: 1995; 10 4 383 393
-
(1995)
Nat Genet
, vol.10
, Issue.4
, pp. 383-393
-
-
Reijo, R.1
Lee, T.Y.2
Salo, P.3
-
17
-
-
0036782130
-
Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure
-
Repping S, Skaletsky H, Lange J., et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet: 2002; 71 4 906 922 (Pubitemid 135750521)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.4
, pp. 906-922
-
-
Repping, S.1
Skaletsky, H.2
Lange, J.3
Silber, S.4
Van Der Veen, F.5
Oates, R.D.6
Page, D.C.7
Rozen, S.8
-
18
-
-
0037884920
-
Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis
-
discussion 126-127
-
Vogt PH, Fernandes S. Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis? APMIS: 2003; 111 1 115 126; discussion 126-127
-
(2003)
APMIS
, vol.111
, Issue.1
, pp. 115-126
-
-
Vogt, P.H.1
Fernandes, S.2
-
19
-
-
69649094480
-
Isodicentric y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes
-
Lange J, Skaletsky H, van Daalen SK., et al. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell: 2009; 138 5 855 869
-
(2009)
Cell
, vol.138
, Issue.5
, pp. 855-869
-
-
Lange, J.1
Skaletsky, H.2
Van Daalen, S.K.3
-
20
-
-
33744456276
-
Y chromosome and male infertility: Update, 2006
-
DOI 10.2741/2032
-
Krausz C, Degl'Innocenti S. Y chromosome and male infertility: update, 2006. Front Biosci: 2006; 11 3049 3061 (Pubitemid 43800396)
-
(2006)
Frontiers in Bioscience
, vol.11
, Issue.SUPPL. 3
, pp. 3049-3061
-
-
Krausz, C.1
Degl'Innocenti, S.2
-
21
-
-
21244439839
-
AZF deletions and Y chromosomal haplogroups: History and update based on sequence
-
DOI 10.1093/humupd/dmi017
-
Vogt PH. AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update: 2005; 11 4 319 336 (Pubitemid 40895462)
-
(2005)
Human Reproduction Update
, vol.11
, Issue.4
, pp. 319-336
-
-
Vogt, P.H.1
-
22
-
-
39749137055
-
Clinical consequences of microdeletions of the Y chromosome: The extended Münster experience
-
Simoni M, Tüttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online: 2008; 16 2 289 303 (Pubitemid 351291979)
-
(2008)
Reproductive BioMedicine Online
, vol.16
, Issue.2
, pp. 289-303
-
-
Simoni, M.1
Tuttelmann, F.2
Gromoll, J.3
Nieschlag, E.4
-
23
-
-
4043092052
-
EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004
-
DOI 10.1111/j.1365-2605.2004.00495.x
-
Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl: 2004; 27 4 240 249 (Pubitemid 39062086)
-
(2004)
International Journal of Andrology
, vol.27
, Issue.4
, pp. 240-249
-
-
Simoni, M.1
Bakker, E.2
Krausz, C.3
-
24
-
-
79957480628
-
Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count
-
Noordam MJ, Westerveld GH, Hovingh SE., et al. Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum Mol Genet: 2011; 20 12 2457 2463
-
(2011)
Hum Mol Genet
, vol.20
, Issue.12
, pp. 2457-2463
-
-
Noordam, M.J.1
Westerveld, G.H.2
Hovingh, S.E.3
-
25
-
-
0034641881
-
Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
-
Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet: 2000; 9 17 2563 2572
-
(2000)
Hum Mol Genet
, vol.9
, Issue.17
, pp. 2563-2572
-
-
Kamp, C.1
Hirschmann, P.2
Voss, H.3
Huellen, K.4
Vogt, P.H.5
-
26
-
-
78651345734
-
Complex transcriptional control of the AZFa gene DDX3Y in human testis
-
Rauschendorf MA, Zimmer J, Hanstein R, Dickemann C, Vogt PH. Complex transcriptional control of the AZFa gene DDX3Y in human testis. Int J Androl: 2011; 34 1 84 96
-
(2011)
Int J Androl
, vol.34
, Issue.1
, pp. 84-96
-
-
Rauschendorf, M.A.1
Zimmer, J.2
Hanstein, R.3
Dickemann, C.4
Vogt, P.H.5
-
27
-
-
0034703178
-
Deletion of azoospermia factor a (AZFa) region of human y chromosome caused by recombination between HERV15 proviruses
-
Sun C, Skaletsky H, Rozen S., et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet: 2000; 9 15 2291 2296
-
(2000)
Hum Mol Genet
, vol.9
, Issue.15
, pp. 2291-2296
-
-
Sun, C.1
Skaletsky, H.2
Rozen, S.3
-
28
-
-
43049114970
-
Identification of new breakpoints in AZFb and AZFc
-
DOI 10.1093/molehr/gan014
-
Costa P, Gonalves R, Ferrs C., et al. Identification of new breakpoints in AZFb and AZFc. Mol Hum Reprod: 2008; 14 4 251 258 (Pubitemid 351627295)
-
(2008)
Molecular Human Reproduction
, vol.14
, Issue.4
, pp. 251-258
-
-
Costa, P.1
Goncalves, R.2
Ferras, C.3
Fernandes, S.4
Fernandes, A.T.5
Sousa, M.6
Barros, A.7
-
29
-
-
0042123550
-
Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb, and AZFc regions
-
DOI 10.1093/humrep/deg348
-
Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod: 2003; 18 8 1660 1665 (Pubitemid 36958046)
-
(2003)
Human Reproduction
, vol.18
, Issue.8
, pp. 1660-1665
-
-
Hopps, C.V.1
Mielnik, A.2
Goldstein, M.3
Palermo, G.D.4
Rosenwaks, Z.5
Schlegel, P.N.6
-
30
-
-
75749150197
-
Clinical data and parenthood of 63 infertile and Y-microdeleted men
-
Patrat C, Bienvenu T, Janny L., et al. Clinical data and parenthood of 63 infertile and Y-microdeleted men. Fertil Steril: 2010; 93 3 822 832
-
(2010)
Fertil Steril
, vol.93
, Issue.3
, pp. 822-832
-
-
Patrat, C.1
Bienvenu, T.2
Janny, L.3
-
31
-
-
77957191560
-
A decade of experience emphasizes that testing for y microdeletions is essential in American men with azoospermia and severe oligozoospermia
-
Stahl PJ, Masson P, Mielnik A, Marean MB, Schlegel PN, Paduch DA. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil Steril: 2010; 94 5 1753 1756
-
(2010)
Fertil Steril
, vol.94
, Issue.5
, pp. 1753-1756
-
-
Stahl, P.J.1
Masson, P.2
Mielnik, A.3
Marean, M.B.4
Schlegel, P.N.5
Paduch, D.A.6
-
32
-
-
33745823910
-
Phenotypic variability in isodicentric Y patients: Study of nice cases
-
DOI 10.1111/j.1399-0004.2006.00654.x
-
DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet: 2006; 70 2 145 150 (Pubitemid 44028100)
-
(2006)
Clinical Genetics
, vol.70
, Issue.2
, pp. 145-150
-
-
DesGroseilliers, M.1
Beaulieu Bergeron, M.2
Brochu, P.3
Lemyre, E.4
Lemieux, N.5
-
33
-
-
79952488322
-
Evidence of a mechanism for isodicentric chromosome y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype
-
Reshmi SC, Miller JL, Deplewski D., et al. Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y) (p11.31) mosaic karyotype. Eur J Med Genet: 2011; 54 2 161 164
-
(2011)
Eur J Med Genet
, vol.54
, Issue.2
, pp. 161-164
-
-
Reshmi, S.C.1
Miller, J.L.2
Deplewski, D.3
-
34
-
-
34250652063
-
Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, fish, sky and study of distribution in different tissues
-
Wu HH, Lee TH, Chen CD, Yeh KT, Chen M. Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3:p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues. J Formos Med Assoc: 2007; 106 5 403 410 (Pubitemid 46939192)
-
(2007)
Journal of the Formosan Medical Association
, vol.106
, Issue.5
, pp. 403-410
-
-
Wu, H.-H.1
Lee, T.-H.2
Chen, C.-D.3
Yeh, K.-T.4
Chen, M.5
-
35
-
-
50849127858
-
Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric y chromosome in a male child with growth retardation and abnormal external genitalia
-
Iourov IY, Vorsanova SG, Liehr T, Monakhov VV, Soloviev IV, Yurov YB. Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia. Cytogenet Genome Res: 2008; 121 3-4 302 306
-
(2008)
Cytogenet Genome Res
, vol.121
, Issue.34
, pp. 302-306
-
-
Iourov, I.Y.1
Vorsanova, S.G.2
Liehr, T.3
Monakhov, V.V.4
Soloviev, I.V.5
Yurov, Y.B.6
-
36
-
-
77954128268
-
Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter
-
Shinawi M, Cain MP, Vanderbrink BA., et al. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? Am J Med Genet A: 2010; 152A 7 1832 1837
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.7
, pp. 1832-1837
-
-
Shinawi, M.1
Cain, M.P.2
Vanderbrink, B.A.3
-
37
-
-
0036852977
-
Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI
-
Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod: 2002; 17 11 2813 2824 (Pubitemid 35350895)
-
(2002)
Human Reproduction
, vol.17
, Issue.11
, pp. 2813-2824
-
-
Oates, R.D.1
Silber, S.2
Brown, L.G.3
Page, D.C.4
-
38
-
-
78049393388
-
Successful multiple pregnancy achieved after transfer of frozen embryos obtained via intracytoplasmic sperm injection with testicular sperm from an AZFc-deleted man
-
, e1-e3
-
Gambera L, Governini L, De Leo V., et al. Successful multiple pregnancy achieved after transfer of frozen embryos obtained via intracytoplasmic sperm injection with testicular sperm from an AZFc-deleted man. Fertil Steril: 2010; 94 6 2330, e1-e3
-
(2010)
Fertil Steril
, vol.94
, Issue.6
, pp. 2330
-
-
Gambera, L.1
Governini, L.2
De Leo, V.3
-
39
-
-
0030914159
-
Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: Fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection
-
Mulhall JP, Reijo R, Alagappan R., et al. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod: 1997; 12 3 503 508 (Pubitemid 27156447)
-
(1997)
Human Reproduction
, vol.12
, Issue.3
, pp. 503-508
-
-
Mulhall, J.P.1
Reijo, R.2
Alagappan, R.3
Brown, L.4
Page, D.5
Carson, R.6
Oates, R.D.7
-
40
-
-
0031008051
-
Fertilization and pregnancy using intentionally cryopreserved testicular tissue as the sperm source for intracytoplasmic sperm injection in 10 men with nonobstructive azoospermia
-
DOI 10.1093/humrep/12.4.734
-
Oates RD, Mulhall J, Burgess C, Cunningham D, Carson R. Fertilization and pregnancy using intentionally cryopreserved testicular tissue as the sperm source for intracytoplasmic sperm injection in 10 men with non-obstructive azoospermia. Hum Reprod: 1997; 12 4 734 739 (Pubitemid 27223039)
-
(1997)
Human Reproduction
, vol.12
, Issue.4
, pp. 734-739
-
-
Oates, R.D.1
Mulhall, J.2
Burgess, C.3
Cunningham, D.4
Carson, R.5
-
41
-
-
21644483723
-
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion
-
DOI 10.1093/humrep/deh847
-
Stouffs K, Lissens W, Tournaye H, Van Steirteghem A, Liebaers I. The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod: 2005; 20 7 1887 1896 (Pubitemid 40932373)
-
(2005)
Human Reproduction
, vol.20
, Issue.7
, pp. 1887-1896
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Van Steirteghem, A.4
Liebaers, I.5
-
42
-
-
77955101583
-
Testis transcriptome analysis in male infertility: New insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion
-
Gatta V, Raicu F, Ferlin A., et al. Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion. BMC Genomics: 2010; 11 401
-
(2010)
BMC Genomics
, vol.11
, pp. 401
-
-
Gatta, V.1
Raicu, F.2
Ferlin, A.3
-
43
-
-
79953855369
-
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions
-
Jorgez CJ, Weedin JW, Sahin A., et al. Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab: 2011; 96 4 E674 E679
-
(2011)
J Clin Endocrinol Metab
, vol.96
, Issue.4
-
-
Jorgez, C.J.1
Weedin, J.W.2
Sahin, A.3
-
44
-
-
0026658839
-
Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: Meiotic studies in a man with a deletion of distal Xp
-
Mohandas TK, Speed RM, Passage MB, Yen PH, Chandley AC, Shapiro LJ. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am J Hum Genet: 1992; 51 3 526 533
-
(1992)
Am J Hum Genet
, vol.51
, Issue.3
, pp. 526-533
-
-
Mohandas, T.K.1
Speed, R.M.2
Passage, M.B.3
Yen, P.H.4
Chandley, A.C.5
Shapiro, L.J.6
-
45
-
-
79951797804
-
Short stature due to SHOX deficiency: Genotype, phenotype, and therapy
-
Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr: 2011; 75 2 81 89
-
(2011)
Horm Res Paediatr
, vol.75
, Issue.2
, pp. 81-89
-
-
Binder, G.1
-
46
-
-
26844470927
-
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: Contrasting children with Leri-Weill dyschondrosteosis and turner syndrome
-
DOI 10.1016/j.jpeds.2005.04.069, PII S0022347605004579
-
Ross JL, Kowal K, Quigley CA., et al. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr: 2005; 147 4 499 507 (Pubitemid 41446545)
-
(2005)
Journal of Pediatrics
, vol.147
, Issue.4
, pp. 499-507
-
-
Ross, J.L.1
Kowal, K.2
Quigley, C.A.3
Blum, W.F.4
Cutler Jr., G.B.5
Crowe, B.6
Hovanes, K.7
Elder, F.F.8
Zinn, A.R.9
-
47
-
-
81455141487
-
Identification of a Gypsy SHOX mutation (p.A170P) in Lri-Weill dyschondrosteosis and Langer mesomelic dysplasia
-
Barca-Tierno V, Aza-Carmona M, Barroso E., et al. Identification of a Gypsy SHOX mutation (p.A170P) in Lri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Eur J Hum Genet: 2011; 19 12 1218 1225
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.12
, pp. 1218-1225
-
-
Barca-Tierno, V.1
Aza-Carmona, M.2
Barroso, E.3
-
48
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
DOI 10.1038/ng0198-67
-
Belin V, Cusin V, Viot G., et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet: 1998; 19 1 67 69 (Pubitemid 28242026)
-
(1998)
Nature Genetics
, vol.19
, Issue.1
, pp. 67-69
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
Girlich, D.4
Toutain, A.5
Moncla, A.6
Vekemans, M.7
Le Merrer, M.8
Munnich, A.9
Cormier-Daire, V.10
-
49
-
-
33845662367
-
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: Frequency and phenotypic variability
-
DOI 10.1111/j.1365-2265.2006.02698.x
-
Jorge AA, Souza SC, Nishi MY., et al. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf): 2007; 66 1 130 135 (Pubitemid 44952505)
-
(2007)
Clinical Endocrinology
, vol.66
, Issue.1
, pp. 130-135
-
-
Jorge, A.A.L.1
Souza, S.C.2
Nishi, M.Y.3
Billerbeck, A.E.4
Liborio, D.C.C.5
Kim, C.A.6
Arnhold, I.J.P.7
Mendonca, B.B.8
-
50
-
-
84862833453
-
Association of gr/gr deletion in the AZFc region of y chromosome with male infertility: A meta-analysis
-
[in Chinese]
-
Li Y, Pan KJ, Wang L, Ren J. Association of gr/gr deletion in the AZFc region of Y chromosome with male infertility: a meta-analysis. [in Chinese]. Zhonghua Nan Ke Xue: 2011; 17 6 546 552
-
(2011)
Zhonghua Nan Ke Xue
, vol.17
, Issue.6
, pp. 546-552
-
-
Li, Y.1
Pan, K.J.2
Wang, L.3
Ren, J.4
-
51
-
-
79951729028
-
What about gr/gr deletions and male infertility? Systematic review and meta-analysis
-
Stouffs K, Lissens W, Tournaye H, Haentjens P. What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum Reprod Update: 2011; 17 2 197 209
-
(2011)
Hum Reprod Update
, vol.17
, Issue.2
, pp. 197-209
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Haentjens, P.4
-
52
-
-
78650057919
-
Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients
-
Shahid M, Dhillon VS, Khalil HS, Sexana A, Husain SA. Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur J Hum Genet: 2011; 19 1 23 29
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.1
, pp. 23-29
-
-
Shahid, M.1
Dhillon, V.S.2
Khalil, H.S.3
Sexana, A.4
Husain, S.A.5
-
53
-
-
0031835155
-
Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility
-
Chandley AC. Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum Reprod: 1998; 13 01 45 50 (Pubitemid 28310439)
-
(1998)
Human Reproduction
, vol.13
, Issue.SUPPL. 1
, pp. 45-50
-
-
Chandley, A.C.1
-
54
-
-
79952363221
-
Role of genetics in azoospermia
-
Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology: 2011; 77 3 598 601
-
(2011)
Urology
, vol.77
, Issue.3
, pp. 598-601
-
-
Lee, J.Y.1
Dada, R.2
Sabanegh, E.3
Carpi, A.4
Agarwal, A.5
-
55
-
-
34147152346
-
Klinefelter syndrome in clinical practice
-
DOI 10.1038/ncpuro0775, PII NCPURO0775
-
Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol: 2007; 4 4 192 204 (Pubitemid 46567152)
-
(2007)
Nature Clinical Practice Urology
, vol.4
, Issue.4
, pp. 192-204
-
-
Bojesen, A.1
Gravholt, C.H.2
-
56
-
-
84882321752
-
Klinefelter's syndrome: A clinical and therapeutical update
-
Forti G, Corona G, Vignozzi L, Krausz C, Maggi M. Klinefelter's syndrome: a clinical and therapeutical update. Sex Dev: 2010; 4 4-5 249 258
-
(2010)
Sex Dev
, vol.4
, Issue.45
, pp. 249-258
-
-
Forti, G.1
Corona, G.2
Vignozzi, L.3
Krausz, C.4
Maggi, M.5
-
57
-
-
77956780076
-
Klinefelter syndrome: Clinical and molecular aspects
-
Giltay JC, Maiburg MC. Klinefelter syndrome: clinical and molecular aspects. Expert Rev Mol Diagn: 2010; 10 6 765 776
-
(2010)
Expert Rev Mol Diagn
, vol.10
, Issue.6
, pp. 765-776
-
-
Giltay, J.C.1
Maiburg, M.C.2
-
58
-
-
0242472011
-
Clinical and diagnostic features of patients with suspected Klinefelter syndrome
-
Oates RD. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl: 2003; 24 1 49 50
-
(2003)
J Androl
, vol.24
, Issue.1
, pp. 49-50
-
-
Oates, R.D.1
-
59
-
-
55149119375
-
New concepts in Klinefelter syndrome
-
Paduch DA, Fine RG, Bolyakov A, Kiper J. New concepts in Klinefelter syndrome. Curr Opin Urol: 2008; 18 6 621 627
-
(2008)
Curr Opin Urol
, vol.18
, Issue.6
, pp. 621-627
-
-
Paduch, D.A.1
Fine, R.G.2
Bolyakov, A.3
Kiper, J.4
-
60
-
-
27744462460
-
Success of testicular sperm injection and intracytoplasmic sperm injection in men with Klinefelter syndrome
-
DOI 10.1210/jc.2004-2322
-
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab: 2005; 90 11 6263 6267 (Pubitemid 41606554)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.11
, pp. 6263-6267
-
-
Schiff, J.D.1
Palermo, G.D.2
Veeck, L.L.3
Goldstein, M.4
Rosenwaks, Z.5
Schlegel, P.N.6
-
61
-
-
68249116518
-
TESE-ICSI in patients with non-mosaic Klinefelter syndrome: A comparative study
-
Yarali H, Polat M, Bozdag G., et al. TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study. Reprod Biomed Online: 2009; 18 6 756 760
-
(2009)
Reprod Biomed Online
, vol.18
, Issue.6
, pp. 756-760
-
-
Yarali, H.1
Polat, M.2
Bozdag, G.3
-
62
-
-
76749101885
-
Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009
-
Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod: 2010; 25 3 588 597
-
(2010)
Hum Reprod
, vol.25
, Issue.3
, pp. 588-597
-
-
Fullerton, G.1
Hamilton, M.2
Maheshwari, A.3
-
63
-
-
68949202936
-
Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients
-
Sciurano RB, Luna Hisano CV, Rahn MI., et al. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod: 2009; 24 9 2353 2360
-
(2009)
Hum Reprod
, vol.24
, Issue.9
, pp. 2353-2360
-
-
Sciurano, R.B.1
Luna Hisano, C.V.2
Rahn, M.I.3
-
64
-
-
34548776061
-
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients
-
DOI 10.1210/jc.2007-0447
-
Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab: 2007; 92 9 3458 3465 (Pubitemid 47435320)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.9
, pp. 3458-3465
-
-
Vorona, E.1
Zitzmann, M.2
Gromoll, J.3
Schuring, A.N.4
Nieschlag, E.5
-
65
-
-
58449104199
-
46, XX male sex reversal syndrome: A case report and review of the genetic basis
-
Wang T, Liu JH, Yang J, Chen J, Ye ZQ. 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia: 2009; 41 1 59 62
-
(2009)
Andrologia
, vol.41
, Issue.1
, pp. 59-62
-
-
Wang, T.1
Liu, J.H.2
Yang, J.3
Chen, J.4
Ye, Z.Q.5
-
66
-
-
45549101859
-
Cytogenetic determinants of male fertility
-
DOI 10.1093/humupd/dmn017
-
Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update: 2008; 14 4 379 390 (Pubitemid 351858977)
-
(2008)
Human Reproduction Update
, vol.14
, Issue.4
, pp. 379-390
-
-
Martin, R.H.1
-
67
-
-
55549085241
-
Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees
-
Engels H, Eggermann T, Caliebe A., et al. Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A: 2008; 146A 20 2611 2616
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.20
, pp. 2611-2616
-
-
Engels, H.1
Eggermann, T.2
Caliebe, A.3
-
68
-
-
0034998380
-
Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men
-
Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction: 2001; 121 5 655 666 (Pubitemid 32472051)
-
(2001)
Reproduction
, vol.121
, Issue.5
, pp. 655-666
-
-
Shi, Q.1
Martin, R.H.2
-
69
-
-
55449129873
-
Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Male Reproduction and Urology. Evaluation of the azoospermic male
-
Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Male Reproduction and Urology. Evaluation of the azoospermic male. Fertil Steril: 2008; 90 5, Suppl S74 S77
-
(2008)
Fertil Steril
, vol.90
, Issue.5 SUPPL.
-
-
-
70
-
-
0042524435
-
PGD in 47,XXY Klinefelter's syndrome patients
-
DOI 10.1093/humupd/dmg029
-
Staessen C, Tournaye H, Van Assche E., et al. PGD in 47,XXY Klinefelter's syndrome patients. Hum Reprod Update: 2003; 9 4 319 330 (Pubitemid 36987281)
-
(2003)
Human Reproduction Update
, vol.9
, Issue.4
, pp. 319-330
-
-
Staessen, C.1
Tournaye, H.2
Van Assche, E.3
Michiels, A.4
Van Landuyt, L.5
Devroey, P.6
Liebaers, I.7
Van Steirteghem, A.8
-
71
-
-
77952551870
-
Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses
-
Fischer J, Colls P, Escudero T, Munn S. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril: 2010; 94 1 283 289
-
(2010)
Fertil Steril
, vol.94
, Issue.1
, pp. 283-289
-
-
Fischer, J.1
Colls, P.2
Escudero, T.3
Munn, S.4
-
72
-
-
79952282494
-
Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryospreliminary observations of two robertsonian translocation carrier families
-
Shamash J, Rienstein S, Wolf-Reznik H., et al. Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryospreliminary observations of two robertsonian translocation carrier families. J Assist Reprod Genet: 2011; 28 1 77 83
-
(2011)
J Assist Reprod Genet
, vol.28
, Issue.1
, pp. 77-83
-
-
Shamash, J.1
Rienstein, S.2
Wolf-Reznik, H.3
-
73
-
-
79961199191
-
Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD)
-
DOI 10.1080/01485010600691993, PII VW62792L22435664
-
Samli H, Samli MM, Yilmaz E, Imirzalioglu N. Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). Arch Androl: 2006; 52 6 471 477 (Pubitemid 44527210)
-
(2006)
Archives of Andrology
, vol.52
, Issue.6
, pp. 471-477
-
-
Samli, H.1
Samli, M.M.2
Yilmaz, E.3
Imirzalioglu, N.4
-
74
-
-
84860574306
-
-
In: Lipshultz L. Howards S. Niederberger C. eds. Infertility in the male. 4th ed New York, NY Cambridge University Press
-
Turner T. The epididymis and accessory sex organs. In: Lipshultz L, Howards S, Niederberger C. eds. Infertility in the male. 4th ed. New York, NY Cambridge University Press: 2009; 90 103
-
(2009)
The Epididymis and Accessory Sex Organs
, pp. 90-103
-
-
Turner, T.1
-
75
-
-
36348994265
-
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders
-
DOI 10.2353/jmoldx.2007.070040
-
Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M. Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn: 2007; 9 5 582 588 (Pubitemid 350158416)
-
(2007)
Journal of Molecular Diagnostics
, vol.9
, Issue.5
, pp. 582-588
-
-
Bareil, C.1
Guittard, C.2
Altieri, J.-P.3
Templin, C.4
Claustres, M.5
Des Georges, M.6
-
77
-
-
0003452177
-
-
Accessed February 10, 2012
-
Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca/cftr. Accessed February 10, 2012
-
Cystic Fibrosis Mutation Database
-
-
-
78
-
-
0028069337
-
The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis
-
Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl: 1994; 15 1 1 8 (Pubitemid 24061779)
-
(1994)
Journal of Andrology
, vol.15
, Issue.1
, pp. 1-8
-
-
Oates, R.D.1
Amos, J.A.2
-
79
-
-
33749446633
-
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
-
DOI 10.1164/rccm.200509-1377OC
-
Wilschanski M, Dupuis A, Ellis L., et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med: 2006; 174 7 787 794 (Pubitemid 44511660)
-
(2006)
American Journal of Respiratory and Critical Care Medicine
, vol.174
, Issue.7
, pp. 787-794
-
-
Wilschanski, M.1
Dupuis, A.2
Ellis, L.3
Jarvi, K.4
Zielenski, J.5
Tullis, E.6
Martin, S.7
Corey, M.8
Tsui, L.-C.9
Durie, P.10
-
80
-
-
34250180679
-
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
-
DOI 10.1093/humrep/dem024
-
Ratbi I, Legendre M, Niel F., et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod: 2007; 22 5 1285 1291 (Pubitemid 47071653)
-
(2007)
Human Reproduction
, vol.22
, Issue.5
, pp. 1285-1291
-
-
Ratbi, I.1
Legendre, M.2
Niel, F.3
Martin, J.4
Soufir, J.-C.5
Izard, V.6
Costes, B.7
Costa, C.8
Girodon, E.9
-
81
-
-
0030063952
-
Efficacy of intracytoplasmic sperm injection using intentionally cryopreserved epididymal spermatozoa
-
Oates RD, Lobel SM, Harris DH, Pang S, Burgess CM, Carson RS. Efficacy of intracytoplasmic sperm injection using intentionally cryopreserved epididymal spermatozoa. Hum Reprod: 1996; 11 1 133 138 (Pubitemid 26047687)
-
(1996)
Human Reproduction
, vol.11
, Issue.1
, pp. 133-138
-
-
Oates, R.D.1
Lobel, S.M.2
Harris, D.H.3
Pang, S.4
Burgess, C.M.5
Carson, R.S.6
-
82
-
-
77957835557
-
PGD for all cystic fibrosis carrier couples: Novel strategy for preventive medicine and cost analysis
-
Tur-Kaspa I, Aljadeff G, Rechitsky S, Grotjan HE, Verlinsky Y. PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis. Reprod Biomed Online: 2010; 21 2 186 195
-
(2010)
Reprod Biomed Online
, vol.21
, Issue.2
, pp. 186-195
-
-
Tur-Kaspa, I.1
Aljadeff, G.2
Rechitsky, S.3
Grotjan, H.E.4
Verlinsky, Y.5
-
83
-
-
0035137296
-
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: Phenotypic findings and genetic considerations
-
McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod: 2001; 16 2 282 288 (Pubitemid 32149422)
-
(2001)
Human Reproduction
, vol.16
, Issue.2
, pp. 282-288
-
-
McCallum, T.J.1
Milunsky, J.M.2
Munarriz, R.3
Carson, R.4
Sadeghi-Nejad, H.5
Oates, R.D.6
-
84
-
-
33845569477
-
Globozoospermia revisited
-
DOI 10.1093/humupd/dml047
-
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA. Globozoospermia revisited. Hum Reprod Update: 2007; 13 1 63 75 (Pubitemid 44932825)
-
(2007)
Human Reproduction Update
, vol.13
, Issue.1
, pp. 63-75
-
-
Dam, A.H.D.M.1
Feenstra, I.2
Westphal, J.R.3
Ramos, L.4
Van Golde, R.J.T.5
Kremer, J.A.M.6
-
85
-
-
79952469179
-
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation
-
Harbuz R, Zouari R, Pierre V., et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet: 2011; 88 3 351 361
-
(2011)
Am J Hum Genet
, vol.88
, Issue.3
, pp. 351-361
-
-
Harbuz, R.1
Zouari, R.2
Pierre, V.3
-
86
-
-
79952460642
-
DPY19L2 deletion as a major cause of globozoospermia
-
Erratum in: Am J Hum Genet 2011;88(4):517
-
Koscinski I, Elinati E, Fossard C., et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet: 2011; 88 3 344 350. Erratum in: Am J Hum Genet 2011;88(4):517
-
(2011)
Am J Hum Genet
, vol.88
, Issue.3
, pp. 344-350
-
-
Koscinski, I.1
Elinati, E.2
Fossard, C.3
-
87
-
-
35348934239
-
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
-
DOI 10.1086/521314
-
Dam AH, Koscinski I, Kremer JA., et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet: 2007; 81 4 813 820 (Pubitemid 47596548)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.4
, pp. 813-820
-
-
Dam, A.H.D.M.1
Koscinski, I.2
Kremer, J.A.M.3
Moutou, C.4
Jaeger, A.-S.5
Oudakker, A.R.6
Tournaye, H.7
Charlet, N.8
Lagier-Tourenne, C.9
Van Bokhoven, H.10
Viville, S.11
-
88
-
-
77954402627
-
A newly discovered mutation in PICK1 in a human with globozoospermia
-
Liu G, Shi QW, Lu GX. A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl: 2010; 12 4 556 560
-
(2010)
Asian J Androl
, vol.12
, Issue.4
, pp. 556-560
-
-
Liu, G.1
Shi, Q.W.2
Lu, G.X.3
-
89
-
-
0029030750
-
Pregnancy with spermatozoa from a globozoospermic man after intracytoplasmic sperm injection treatment
-
Trokoudes KM, Danos N, Kalogirou L., et al. Pregnancy with spermatozoa from a globozoospermic man after intracytoplasmic sperm injection treatment. Hum Reprod: 1995; 10 4 880 882
-
(1995)
Hum Reprod
, vol.10
, Issue.4
, pp. 880-882
-
-
Trokoudes, K.M.1
Danos, N.2
Kalogirou, L.3
-
90
-
-
77953373310
-
Successful pregnancies and a live birth after intracytoplasmic sperm injection in globozoospermia
-
Banker MR, Patel PM, Joshi BV, Shah PB, Goyal R. Successful pregnancies and a live birth after intracytoplasmic sperm injection in globozoospermia. J Hum Reprod Sci: 2009; 2 2 81 82
-
(2009)
J Hum Reprod Sci
, vol.2
, Issue.2
, pp. 81-82
-
-
Banker, M.R.1
Patel, P.M.2
Joshi, B.V.3
Shah, P.B.4
Goyal, R.5
-
91
-
-
40349116663
-
Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: Case report
-
DOI 10.1111/j.1745-7262.2008.00248.x
-
Dirican EK, Isik A, Vicdan K, Sozen E, Suludere Z. Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report. Asian J Androl: 2008; 10 2 332 336 (Pubitemid 351337999)
-
(2008)
Asian Journal of Andrology
, vol.10
, Issue.2
, pp. 332-336
-
-
Dirican, E.K.1
Isik, A.2
Vicdan, K.3
Sozen, E.4
Suludere, Z.5
-
92
-
-
70749128762
-
A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation
-
e5-e9
-
Egashira A, Murakami M, Haigo K, Horiuchi T, Kuramoto T. A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation. Fertil Steril: 2009; 92 6 2037, e5-e9
-
(2009)
Fertil Steril
, vol.92
, Issue.6
, pp. 2037
-
-
Egashira, A.1
Murakami, M.2
Haigo, K.3
Horiuchi, T.4
Kuramoto, T.5
-
93
-
-
0032410182
-
Failure of fertilization following intracytoplasmic injection of round-headed sperm
-
Khalili MA, Kalantar SM, Vahidi S, Ghafour-Zadeh M. Failure of fertilization following intracytoplasmic injection of round-headed sperm. Ann Saudi Med: 1998; 18 5 408 411 (Pubitemid 29043858)
-
(1998)
Annals of Saudi Medicine
, vol.18
, Issue.5
, pp. 408-411
-
-
Khalili, M.A.1
Kalantar, S.M.2
Vahidi, S.3
Ghafour-Zadeh, M.4
-
94
-
-
7944237902
-
Evaluation and treatment of familial globozoospermia in five brothers
-
DOI 10.1016/j.fertnstert.2004.03.064, PII S0015028204022332
-
Kilani Z, Ismail R, Ghunaim S., et al. Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril: 2004; 82 5 1436 1439 (Pubitemid 39469473)
-
(2004)
Fertility and Sterility
, vol.82
, Issue.5
, pp. 1436-1439
-
-
Kilani, Z.1
Ismail, R.2
Ghunaim, S.3
Mohamed, H.4
Hughes, D.5
Brewis, I.6
Barratt, C.L.R.7
-
95
-
-
61349149317
-
A birth from the transfer of a single vitrified-warmed blastocyst using intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient
-
, e7-e11
-
Kyono K, Nakajo Y, Nishinaka C., et al. A birth from the transfer of a single vitrified-warmed blastocyst using intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient. Fertil Steril: 2009; 91 3 931, e7-e11
-
(2009)
Fertil Steril
, vol.91
, Issue.3
, pp. 931
-
-
Kyono, K.1
Nakajo, Y.2
Nishinaka, C.3
-
96
-
-
0028928523
-
Successful fertilization and establishment of pregnancies after intracytoplasmic sperm injection in patients with globozoospermia
-
Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, Van Steirteghem A. Successful fertilization and establishment of pregnancies after intracytoplasmic sperm injection in patients with globozoospermia. Hum Reprod: 1995; 10 3 626 629
-
(1995)
Hum Reprod
, vol.10
, Issue.3
, pp. 626-629
-
-
Liu, J.1
Nagy, Z.2
Joris, H.3
Tournaye, H.4
Devroey, P.5
Van Steirteghem, A.6
-
97
-
-
0037025424
-
Ultrastructural features and ICSI treatment of severe teratozoospermia: Report of two human cases of globozoospermia
-
DOI 10.1016/S0301-2115(01)00602-9, PII S0301211501006029
-
Nardo LG, Sinatra F, Bartoloni G, Zafarana S, Nardo F. Ultrastructural features and ICSI treatment of severe teratozoospermia: report of two human cases of globozoospermia. Eur J Obstet Gynecol Reprod Biol: 2002; 104 1 40 42 (Pubitemid 34786389)
-
(2002)
European Journal of Obstetrics Gynecology and Reproductive Biology
, vol.104
, Issue.1
, pp. 40-42
-
-
Nardo, L.G.1
Sinatra, F.2
Bartoloni, G.3
Zafarana, S.4
Nardo, F.5
-
98
-
-
78649933047
-
Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI
-
Sahu B, Ozturk O, Serhal P. Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI. J Obstet Gynaecol: 2010; 30 8 869 870
-
(2010)
J Obstet Gynaecol
, vol.30
, Issue.8
, pp. 869-870
-
-
Sahu, B.1
Ozturk, O.2
Serhal, P.3
-
99
-
-
52949098307
-
Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient
-
e1-e5
-
Tejera A, Moll M, Muriel L, Remoh J, Pellicer A, De Pablo JL. Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient. Fertil Steril: 2008; 90 4 1202, e1-e5
-
(2008)
Fertil Steril
, vol.90
, Issue.4
, pp. 1202
-
-
Tejera, A.1
Moll, M.2
Muriel, L.3
Remoh, J.4
Pellicer, A.5
De Pablo, J.L.6
-
100
-
-
70349473114
-
Oocyte activation ability correlates with head flatness and presence of perinuclear theca substance in human and mouse sperm
-
Ito C, Akutsu H, Yao R., et al. Oocyte activation ability correlates with head flatness and presence of perinuclear theca substance in human and mouse sperm. Hum Reprod: 2009; 24 10 2588 2595
-
(2009)
Hum Reprod
, vol.24
, Issue.10
, pp. 2588-2595
-
-
Ito, C.1
Akutsu, H.2
Yao, R.3
-
101
-
-
77951652501
-
Complete globozoospermia associated with PLC deficiency treated with calcium ionophore and ICSI results in pregnancy
-
Taylor SL, Yoon SY, Morshedi MS., et al. Complete globozoospermia associated with PLC deficiency treated with calcium ionophore and ICSI results in pregnancy. Reprod Biomed Online: 2010; 20 4 559 564
-
(2010)
Reprod Biomed Online
, vol.20
, Issue.4
, pp. 559-564
-
-
Taylor, S.L.1
Yoon, S.Y.2
Morshedi, M.S.3
-
102
-
-
79957915781
-
Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes
-
Brahem S, Mehdi M, Elghezal H, Saad A. Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. Urology: 2011; 77 6 1343 1348
-
(2011)
Urology
, vol.77
, Issue.6
, pp. 1343-1348
-
-
Brahem, S.1
Mehdi, M.2
Elghezal, H.3
Saad, A.4
-
103
-
-
22244483818
-
Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia
-
Ditzel N, El-Danasouri I, Just W, Sterzik K. Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia. Fertil Steril: 2005; 84 1 217 218
-
(2005)
Fertil Steril
, vol.84
, Issue.1
, pp. 217-218
-
-
Ditzel, N.1
El-Danasouri, I.2
Just, W.3
Sterzik, K.4
-
104
-
-
0037834723
-
Sperm chromosome aneuploidy analysis in a man with globozoospermia
-
DOI 10.1016/S0015-0282(03)00401-1
-
Martin RH, Greene C, Rademaker AW. Sperm chromosome aneuploidy analysis in a man with globozoospermia. Fertil Steril: 2003; 79 03 1662 1664 (Pubitemid 36687951)
-
(2003)
Fertility and Sterility
, vol.79
, Issue.SUPPL. 3
, pp. 1662-1664
-
-
Martin, R.H.1
Greene, C.2
Rademaker, A.W.3
-
105
-
-
11044236149
-
Chromosome aneuploidy in the spermatozoa of two men with globozoospermia
-
DOI 10.1093/molehr/gah111
-
Morel F, Douet-Guilbert N, Moerman A., et al. Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Mol Hum Reprod: 2004; 10 11 835 838 (Pubitemid 40045016)
-
(2004)
Molecular Human Reproduction
, vol.10
, Issue.11
, pp. 835-838
-
-
Morel, F.1
Douet-Guilbert, N.2
Moerman, A.3
Duban, B.4
Marchetti, C.5
Delobel, B.6
Le Bris, M.-J.7
Amice, V.8
De Braekeleer, M.9
-
106
-
-
31644441213
-
'Round head' sperm defect. Ultrastructural and meiotic segregation study
-
Moretti E, Collodel G, Scapigliati G, Cosci I, Sartini B, Baccetti B. 'Round head' sperm defect. Ultrastructural and meiotic segregation study. J Submicrosc Cytol Pathol: 2005; 37 3-4 297 303 (Pubitemid 43170547)
-
(2005)
Journal of Submicroscopic Cytology and Pathology
, vol.37
, Issue.3-4
, pp. 297-303
-
-
Moretti, E.1
Collodel, G.2
Scapigliati, G.3
Cosci, I.4
Sartini, B.5
Baccetti, B.6
-
107
-
-
0035045487
-
Chromatin structure in globozoospermia: A case report
-
Larson KL, Brannian JD, Singh NP., et al. Chromatin structure in globozoospermia: a case report. J Androl: 2001; 22 3 424 431 (Pubitemid 32322133)
-
(2001)
Journal of Andrology
, vol.22
, Issue.3
, pp. 424-431
-
-
Larson, K.L.1
Brannian, J.D.2
Singh, N.P.3
Burbach, J.A.4
Jost, L.K.5
Hansen, K.P.6
Kreger, D.O.7
Evenson, D.P.8
-
108
-
-
0036056909
-
Globozoospermia is associated with chromatin structure abnormalities: Case report
-
Vicari E, Perdichizzi A, De Palma A, Burrello N, D'Agata R, Calogero AE. Globozoospermia is associated with chromatin structure abnormalities: case report. Hum Reprod: 2002; 17 8 2128 2133
-
(2002)
Hum Reprod
, vol.17
, Issue.8
, pp. 2128-2133
-
-
Vicari, E.1
Perdichizzi, A.2
De Palma, A.3
Burrello, N.4
D'Agata, R.5
Calogero, A.E.6
-
109
-
-
79952985028
-
Two cases of sperm immotility: A mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment
-
e19-e23
-
Moretti E, Geminiani M, Terzuoli G, Renieri T, Pascarelli N, Collodel G. Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment. Fertil Steril: 2011; 95 5 1787, e19-e23
-
(2011)
Fertil Steril
, vol.95
, Issue.5
, pp. 1787
-
-
Moretti, E.1
Geminiani, M.2
Terzuoli, G.3
Renieri, T.4
Pascarelli, N.5
Collodel, G.6
-
110
-
-
79952118040
-
The making of abnormal spermatozoa: Cellular and molecular mechanisms underlying pathological spermiogenesis
-
Chemes HE, Rawe VY. The making of abnormal spermatozoa: cellular and molecular mechanisms underlying pathological spermiogenesis. Cell Tissue Res: 2010; 341 3 349 357
-
(2010)
Cell Tissue Res
, vol.341
, Issue.3
, pp. 349-357
-
-
Chemes, H.E.1
Rawe, V.Y.2
-
111
-
-
0034208174
-
Pregnancies established through intracytoplasmic sperm injection (ICSI) using spermatozoa with dysplasia of fibrous sheath
-
Olmedo SB, Rawe VY, Nodar FN, Galaverna GD, Acosta AA, Chemes HE. Pregnancies established through intracytoplasmic sperm injection (ICSI) using spermatozoa with dysplasia of fibrous sheath. Asian J Androl: 2000; 2 2 125 130
-
(2000)
Asian J Androl
, vol.2
, Issue.2
, pp. 125-130
-
-
Olmedo, S.B.1
Rawe, V.Y.2
Nodar, F.N.3
Galaverna, G.D.4
Acosta, A.A.5
Chemes, H.E.6
-
112
-
-
0037340201
-
Pregnancies after ICSI using sperm with abnormal head-tail junction from two brothers: Case report
-
DOI 10.1093/humrep/deg121
-
Porcu G, Mercier G, Boyer P., et al. Pregnancies after ICSI using sperm with abnormal head-tail junction from two brothers: case report. Hum Reprod: 2003; 18 3 562 567 (Pubitemid 36329325)
-
(2003)
Human Reproduction
, vol.18
, Issue.3
, pp. 562-567
-
-
Porcu, G.1
Mercier, G.2
Boyer, P.3
Achard, V.4
Banet, J.5
Vasserot, M.6
Melone, C.7
Saias-Magnan, J.8
D'Ercole, C.9
Chau, C.10
Guichaoua, M.R.11
-
113
-
-
27144544743
-
Gene deletions in an infertile man with sperm fibrous sheath dysplasia
-
DOI 10.1093/humrep/dei126
-
Baccetti B, Collodel G, Estenoz M, Manca D, Moretti E, Piomboni P. Gene deletions in an infertile man with sperm fibrous sheath dysplasia. Hum Reprod: 2005; 20 10 2790 2794 (Pubitemid 41487635)
-
(2005)
Human Reproduction
, vol.20
, Issue.10
, pp. 2790-2794
-
-
Baccetti, B.1
Collodel, G.2
Estenoz, M.3
Manca, D.4
Moretti, E.5
Piomboni, P.6
-
114
-
-
22244435321
-
Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath
-
DOI 10.1016/j.fertnstert.2005.01.128, PII S0015028205006709
-
Baccetti B, Collodel G, Gambera L, Moretti E, Serafini F, Piomboni P. Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath. Fertil Steril: 2005; 84 1 123 129 (Pubitemid 40991471)
-
(2005)
Fertility and Sterility
, vol.84
, Issue.1
, pp. 123-129
-
-
Baccetti, B.1
Collodel, G.2
Gambera, L.3
Moretti, E.4
Serafini, F.5
Piomboni, P.6
-
115
-
-
33750632433
-
Sperm morphology and aneuploidies: Defects of supposed genetic origin
-
DOI 10.1111/j.1439-0272.2006.00742.x
-
Collodel G, Moretti E. Sperm morphology and aneuploidies: defects of supposed genetic origin. Andrologia: 2006; 38 6 208 215 (Pubitemid 44690784)
-
(2006)
Andrologia
, vol.38
, Issue.6
, pp. 208-215
-
-
Collodel, G.1
Moretti, E.2
-
117
-
-
1342329609
-
Cilia, primary ciliary dyskinesia and molecular genetics
-
DOI 10.1016/j.prrv.2003.09.005
-
Chodhari R, Mitchison HM, Meeks M. Cilia, primary ciliary dyskinesia and molecular genetics. Paediatr Respir Rev: 2004; 5 1 69 76 (Pubitemid 38256168)
-
(2004)
Paediatric Respiratory Reviews
, vol.5
, Issue.1
, pp. 69-76
-
-
Chodhari, R.1
Mitchison, H.M.2
Meeks, M.3
-
118
-
-
10844244923
-
Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy
-
Rives N, Mousset-Simeon N, Mazurier S, Mace B. Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. J Androl: 2005; 26 1 61 69 (Pubitemid 39665277)
-
(2005)
Journal of Andrology
, vol.26
, Issue.1
, pp. 61-69
-
-
Rives, N.1
Mousset-Simeon, N.2
Mazurier, S.3
Mace, B.4
-
119
-
-
0034888597
-
Birth after intracytoplasmic sperm injection with use of testicular sperm from men with Kartagener/immotile cilia syndrome
-
Cayan S, Conaghan J, Schriock ED, Ryan IP, Black LD, Turek PJ. Birth after intracytoplasmic sperm injection with use of testicular sperm from men with Kartagener/immotile cilia syndrome. Fertil Steril: 2001; 76 3 612 614
-
(2001)
Fertil Steril
, vol.76
, Issue.3
, pp. 612-614
-
-
Cayan, S.1
Conaghan, J.2
Schriock, E.D.3
Ryan, I.P.4
Black, L.D.5
Turek, P.J.6
-
120
-
-
55549139750
-
Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: A case report
-
Kordus RJ, Price RL, Davis JM, Whitman-Elia GF. Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: a case report. J Assist Reprod Genet: 2008; 25 9-10 437 443
-
(2008)
J Assist Reprod Genet
, vol.25
, Issue.910
, pp. 437-443
-
-
Kordus, R.J.1
Price, R.L.2
Davis, J.M.3
Whitman-Elia, G.F.4
-
121
-
-
11144283265
-
Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: A case report and review of the literature
-
Peeraer K, Nijs M, Raick D, Ombelet W. Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: a case report and review of the literature. Reprod Biomed Online: 2004; 9 6 659 663 (Pubitemid 40028884)
-
(2004)
Reproductive BioMedicine Online
, vol.9
, Issue.6
, pp. 659-663
-
-
Peeraer, K.1
Nijs, M.2
Raick, D.3
Ombelet, W.4
|