-
1
-
-
70350518663
-
The international committee for monitoring assisted reproductive technology (Icmart) and the world health organization (who) revised glossary on art terminology, 2009
-
Zegers-Hochschild F, Adamson GD, de Mouzon J et al. The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminology, 2009. Hum Reprod2009; 24: 2683–7.
-
(2009)
Hum Reprod
, vol.24
, pp. 2683-2687
-
-
Zegers-Hochschild, F.1
Adamson, G.D.2
De Mouzon, J.3
-
2
-
-
34447316145
-
International estimates of infertility prevalence and treatment-seeking: Potential need and demand for infertility medical care
-
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 Reprod2007; 22: 1506–12.
-
(2007)
Hum Reprod
, vol.22
, pp. 1506-1512
-
-
Boivin, J.1
Bunting, L.2
Collins, J.A.3
Nygren, K.G.4
-
3
-
-
33748439007
-
Consensus statement on management of intersex disorders. International consensus conference on intersex
-
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118: e488–500.
-
(2006)
Pediatrics
, vol.118
, pp. e488-e500
-
-
Lee, P.A.1
Houk, C.P.2
Ahmed, S.F.3
Hughes, I.A.4
-
4
-
-
82455171905
-
Complete gonadal dysgenesis in clinical practice: The 46, xy karyotype accounts for more than one third of cases
-
Rocha VB, Guerra-Junior G, Marques-de-Faria AP, de Mello MP, Maciel-Guerra AT. Complete gonadal dysgenesis in clinical practice: the 46, XY karyotype accounts for more than one third of cases. Fertil Steril 2007; 96: 1431–4.
-
(2007)
Fertil Steril
, vol.96
, pp. 1431-1434
-
-
Rocha, V.B.1
Guerra-Junior, G.2
Marques-De-Faria, A.P.3
De Mello, M.P.4
Maciel-Guerra, A.T.5
-
5
-
-
38949110809
-
Syndromictruehermaphroditism duetoan r-spondin1 (Rspo1) homozygous mutation
-
Tomaselli S, Megiorni F, De Bernardo C et al. Syndromictruehermaphroditism duetoan R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 2008; 29: 220–6.
-
(2008)
Hum Mutat
, vol.29
, pp. 220-226
-
-
Tomaselli, S.1
Megiorni, F.2
De Bernardo, C.3
-
6
-
-
84957953284
-
Androgen insensitivity syndrome
-
NCBI bookshelf
-
Gottlieb B, Beitel KL, Trifiro MA. Androgen insensitivity syndrome. In Gene Reviews[Internet]. NCBI bookshelf: www.ncbi.nlm.nih.gov/books/NBK1429/
-
Gene Reviews
-
-
Gottlieb, B.1
Beitel, K.L.2
Trifiro, M.A.3
-
7
-
-
84860331374
-
Male patients with partial androgen insensitivity syndrome: A longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia
-
Hellmann P, Christiansen P, Johannsen TH et al. Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. Arch Dis Child 2012; 97: 403–9.
-
(2012)
Arch Dis Child
, vol.97
, pp. 403-409
-
-
Hellmann, P.1
Christiansen, P.2
Johannsen, T.H.3
-
10
-
-
84923615532
-
-
Online Medelian Inheritance in Man (OMIM)
-
Online Medelian Inheritance in Man (OMIM) online: www.omim.org
-
-
-
-
12
-
-
84861330616
-
Anti-mullerian hormone: An ovarian reserve marker in primary ovarian insufficiency
-
Visser JA, Schipper I, Laven JS, Themmen AP. Anti-Mullerian hormone: an ovarian reserve marker in primary ovarian insufficiency. Nat Rev Endocrinol 2012; 8: 331–41.
-
(2012)
Nat Rev Endocrinol
, vol.8
, pp. 331-341
-
-
Visser, J.A.1
Schipper, I.2
Laven, J.S.3
Themmen, A.P.4
-
14
-
-
45549088147
-
Genetic and phenotypic heterogeneity in ovarian failure: Overview of selected candidate genes
-
Simpson JL. Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes. Ann N Y Acad Sci 2008; 1135: 146–54.
-
(2008)
Ann N Y Acad Sci
, vol.1135
, pp. 146-154
-
-
Simpson, J.L.1
-
15
-
-
57349153823
-
Fmr1-related disorders
-
[Internet]. NCBI bookshelf
-
Saul RA, Tarleton JC. FMR1 -related disorders. In Gene Reviews[Internet]. NCBI bookshelf: www.ncbi.nlm.nih.gov/books/NBK1384
-
Gene Reviews
-
-
Saul, R.A.1
Tarleton, J.C.2
-
16
-
-
0036128450
-
Assisted conception in the azoospermic male
-
Gordon UD. Assisted conception in the azoospermic male. Hum Fertil (Camb)2002; 5: S9–14.
-
(2002)
Hum Fertil (Camb)
, vol.5
, pp. 9-14
-
-
Gordon, U.D.1
-
17
-
-
80052904105
-
Late diagnosis of 5-a steroid-reductase deficiency due to ivs12a>gmutationofthe srd5a2 gene in an adolescent girl presented with primary amenorrhea
-
Skordis N, Shammas C, Efstathiou E et al. Late diagnosis of 5-a steroid-reductase deficiency due to IVS12A>Gmutationofthe SRD5a2 gene in an adolescent girl presented with primary amenorrhea. Hormones (Athens)2011; 10: 230–5.
-
(2011)
Hormones (Athens)
, vol.10
, pp. 230-235
-
-
Skordis, N.1
Shammas, C.2
Efstathiou, E.3
-
18
-
-
34548313698
-
Luteinizing hormone beta mutation and hypogonadism in men and women
-
Lofrano-Porto A, Barra GB, Giacomini LA et al.Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med 2007; 357: 897–904.
-
(2007)
N Engl J Med
, vol.357
, pp. 897-904
-
-
Lofrano-Porto, A.1
Barra, G.B.2
Giacomini, L.A.3
-
19
-
-
84857047120
-
AMH gene mutations in two Egyptian families with persistent Mullerian duct syndrome
-
Mazen I, Abdel Hamid MS, El-Gammal M, Aref A, Amr K. AMH gene mutations in two Egyptian families with persistent Mullerian duct syndrome. Sex Dev 2011; 5: 277–80.
-
(2011)
Sex Dev
, vol.5
, pp. 277-280
-
-
Mazen, I.1
Abdel Hamid, M.S.2
El-Gammal, M.3
Aref, A.4
Amr, K.5
-
20
-
-
81555203015
-
Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 xy disorders of sex development during childhood
-
Blanc T, Ayedi A, El-Ghoneimi A et al. Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood. Eur J Endocrinol 2011; 165: 907–15.
-
(2011)
Eur J Endocrinol
, vol.165
, pp. 907-915
-
-
Blanc, T.1
Ayedi, A.2
El-Ghoneimi, A.3
-
21
-
-
83755185534
-
CFTR mutations in men with congenital bilateral absence of the vasdeferens (Cbavd): A systemic review and meta-analysis
-
Yu J, Chen Z, Ni Y, Li Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum Reprod 2012; 27: 25–35.
-
(2012)
Hum Reprod
, vol.27
, pp. 25-35
-
-
Yu, J.1
Chen, Z.2
Ni, Y.3
Li, Z.4
-
22
-
-
44949173037
-
Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis
-
Verpoest W, De Rademaeker M, Sermon K et al. Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 2008; 23: 1654–60.
-
(2008)
Hum Reprod
, vol.23
, pp. 1654-1660
-
-
Verpoest, W.1
De Rademaeker, M.2
Sermon, K.3
-
23
-
-
79959463088
-
Testicular size development and reproductive hormones in boys and adult males with noonan syndrome: A longitudinal study
-
Ankarberg-Lindgren C, Westphal O, Dahlgren J. Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study. Eur J Endocrinol 2011; 165: 137–44.
-
(2011)
Eur J Endocrinol
, vol.165
, pp. 137-144
-
-
Ankarberg-Lindgren, C.1
Westphal, O.2
Dahlgren, J.3
-
24
-
-
77955418014
-
Mitochondria, spermatogenesis and male infertility
-
Rajender S, Rahul P, Mahdi AA. Mitochondria, spermatogenesis and male infertility. Mitochondrion 2010; 10:419–28.
-
(2010)
Mitochondrion
, vol.10
, pp. 419-428
-
-
Rajender, S.1
Rahul, P.2
Mahdi, A.A.3
-
26
-
-
21644483723
-
The Choiceand Outcome of the Fertility Treatment of 38 Couples in Whom the Male Partner has a Yq Microdeletion
-
Stouffs K, Lissens W, Tournaye H, Van Steirteghem A, Liebaers I. The choiceand outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod 2005; 20: 1887–96.
-
(2005)
Hum Reprod
, vol.20
, pp. 1887-1896
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Van Steirteghem, A.4
Liebaers, I.5
-
27
-
-
35348934239
-
Homozygous mutation in spata16 is associated with male infertility in human globozoospermia
-
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;81:813–20.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 813-820
-
-
Dam, A.H.1
Koscinski, I.2
Kremer, J.A.3
-
28
-
-
77954402627
-
Anewly discovered mutation in pick1 in a human with globozoospermia
-
Liu G, Shi QW, Lu GX. Anewly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 2010; 12: 556–60.
-
(2010)
Asian J Androl
, vol.12
, pp. 556-560
-
-
Liu, G.1
Shi, Q.W.2
Lu, G.X.3
-
29
-
-
84865072210
-
Globozoospermiais mainly due to dpy19l2 deletion via non-allelic homologous recombination involving two recombination hotspots
-
Elinati E, Kuentz P, Redin C et al. Globozoospermiais mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet2012; 21: 3695–702.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3695-3702
-
-
Elinati, E.1
Kuentz, P.2
Redin, C.3
-
30
-
-
84875625286
-
Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless ofthe dpy19l2 status
-
Kuentz P, Vanden Meerschaut F, Elinati E et al.Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless ofthe DPY19L2 status. Hum Reprod 2013; 28: 1054–61.
-
(2013)
Hum Reprod
, vol.28
, pp. 1054-1061
-
-
Kuentz, P.1
Vanden Meerschaut, F.2
Elinati, E.3
-
31
-
-
34247598906
-
Homozygous mutation ofaurkc yields large-headed polyploid spermatozoa and causes male infertility
-
Dieterich K, Soto Rifo R, Faure AK et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet 2007; 39: 661–5.
-
(2007)
Nat Genet
, vol.39
, pp. 661-665
-
-
Dieterich, K.1
Soto Rifo, R.2
Faure, A.K.3
-
32
-
-
81255147826
-
Anew AURKC mutation causing macrozoospermia: Implications for human spermatogenesis and clinical diagnosis
-
Ben Khelifa M, Zouari R, Harbuz R et al. Anew AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. Mol Hum Reprod 2011; 17: 762–8.
-
(2011)
Mol Hum Reprod
, vol.17
, pp. 762-768
-
-
Ben Khelifa, M.1
Zouari, R.2
Harbuz, R.3
-
33
-
-
64149122420
-
Human male infertility caused by mutations in the catsper1 channel protein
-
Avenarius MR, Hildebrand MS, Zhang Y et al. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet2009; 84: 505–10.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 505-510
-
-
Avenarius, M.R.1
Hildebrand, M.S.2
Zhang, Y.3
-
34
-
-
84863593466
-
Eshre PGD consortium data collection xi: Cycles from january to december 2008 with pregnancy follow-up to october 2009
-
Goossens V, Traeger-Synodinos J, Coonen E et al. ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod 2012; 27: 1887–911.
-
(2012)
Hum Reprod
, vol.27
, pp. 1887-1911
-
-
Goossens, V.1
Traeger-Synodinos, J.2
Coonen, E.3
-
35
-
-
72849144434
-
Sequencing technologies - the next generation
-
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet2010; 11: 31–46.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
36
-
-
77957555078
-
Identity-by-descent iltering of exome sequence data identiies PIGV mutations in hyperphosphatasia mental retardation syndrome
-
Krawitz PM, Schweiger MR, Rodelsperger C et al.Identity-by-descent iltering ofexome sequence data identiies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet2010; 42: 827–9.
-
(2010)
Nat Genet
, vol.42
, pp. 827-829
-
-
Krawitz, P.M.1
Schweiger, M.R.2
Rodelsperger, C.3
-
38
-
-
84868496831
-
Autosomal mutations and human spermatogenic failure
-
El Inati E, Muller J, Viville S. Autosomal mutations and human spermatogenic failure. Biochim Biophys Acta 2012; 1822: 1873–9.
-
(2012)
Biochim Biophys Acta
, vol.1822
, pp. 1873-1879
-
-
El Inati, E.1
Muller, J.2
Viville, S.3
|