-
2
-
-
43049149104
-
Perrault syndrome: Report of four new cases, review and exclusion of candidate genes
-
S. Marlin, D. Lacombe, L. Jonard, N. Leboulanger, D. Bonneau, and C. Goizet Perrault syndrome: report of four new cases, review and exclusion of candidate genes Am J Med Genet 146A 2008 661 664
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 661-664
-
-
Marlin, S.1
Lacombe, D.2
Jonard, L.3
Leboulanger, N.4
Bonneau, D.5
Goizet, C.6
-
3
-
-
0007708938
-
Environmental causes of ovarian failure
-
M.S. Verp Environmental causes of ovarian failure Semin Reprod Endocrinol 1 1983 101 111
-
(1983)
Semin Reprod Endocrinol
, vol.1
, pp. 101-111
-
-
Verp, M.S.1
-
4
-
-
0029946572
-
Gonadal (ovarian) dysgenesis in 46, XX individuals: Frequency of the autosomal recessive form
-
C.M. Meyers, J.A. Boughman, M. Rivas, R.S. Wilroy, and J.L. Simpson Gonadal (ovarian) dysgenesis in 46, XX individuals: frequency of the autosomal recessive form Am J Med Genet 63 1996 518 524
-
(1996)
Am J Med Genet
, vol.63
, pp. 518-524
-
-
Meyers, C.M.1
Boughman, J.A.2
Rivas, M.3
Wilroy, R.S.4
Simpson, J.L.5
-
5
-
-
35248872162
-
Premature ovarian failure
-
DOI 10.1159/000102537
-
D. Goswami, and G.S. Conway Premature ovarian failure Horm Res 68 2007 196 202 (Pubitemid 350194933)
-
(2007)
Hormone Research
, vol.68
, Issue.4
, pp. 196-202
-
-
Goswami, D.1
Conway, G.S.2
-
6
-
-
39149108084
-
Recent advances in the study of genes involved in non-syndromic premature ovarian failure
-
P. Laissue, G. Vinci, R.A. Veitia, and M. Fellous Recent advances in the study of genes involved in non-syndromic premature ovarian failure Mol Cell Endocrinol 282 2008 101 111
-
(2008)
Mol Cell Endocrinol
, vol.282
, pp. 101-111
-
-
Laissue, P.1
Vinci, G.2
Veitia, R.A.3
Fellous, M.4
-
7
-
-
62749102793
-
Mutations in the NR5A1 gene encoding steroidogenic factor-1 are associated with ovarian insufficiency
-
D. Loureno, R. Brauner, L. Lin, A. De Perdigo, G. Weryha, and M. Muresan Mutations in the NR5A1 gene encoding steroidogenic factor-1 are associated with ovarian insufficiency N Engl J Med 360 2009 1200 1210
-
(2009)
N Engl J Med
, vol.360
, pp. 1200-1210
-
-
Loureno, D.1
Brauner, R.2
Lin, L.3
De Perdigo, A.4
Weryha, G.5
Muresan, M.6
-
8
-
-
0026442281
-
XY sex reversal associated with a deletion 5′ to the SRY "hMG box" in the testis-determining region
-
K. McElreavy, E. Vilain, N. Abbas, J.M. Costa, N. Souleyreau, and K. Kucheria XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region Proc Natl Acad Sci U S A 89 1992 11016 11020
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 11016-11020
-
-
McElreavy, K.1
Vilain, E.2
Abbas, N.3
Costa, J.M.4
Souleyreau, N.5
Kucheria, K.6
-
9
-
-
0026526362
-
Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis
-
E.K. Pivnick, S. Wachtel, D. Woods, J.L. Simpson, and C.E. Bishop Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis Hum Genet 90 1992 308 310
-
(1992)
Hum Genet
, vol.90
, pp. 308-310
-
-
Pivnick, E.K.1
Wachtel, S.2
Woods, D.3
Simpson, J.L.4
Bishop, C.E.5
-
10
-
-
0030891395
-
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
-
DOI 10.1007/s004390050422
-
R. Veitia, A. Ion, S. Barbaux, M.A. Jobling, N. Soleyreau, and K. Ennis Mutations and sequence variants in the testis determining region of the Y chromosome in individuals with a 46, XY female phenotype Hum Genet 99 1997 648 652 (Pubitemid 27192598)
-
(1997)
Human Genetics
, vol.99
, Issue.5
, pp. 648-652
-
-
Veitia, R.1
Ion, A.2
Barbaux, S.3
Jobling, M.A.4
Souleyreau, N.5
Ennis, K.6
Ostrer, H.7
Tosi, M.8
Meo, T.9
Chibani, J.10
Fellous, M.11
McElreavey, K.12
-
11
-
-
33947505860
-
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
-
DOI 10.1210/jc.2006-1672
-
L. Lin, P. Philibert, B. Ferraz-de-Souza, D. Kelberman, T. Homfray, and A. Albanese Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46, XY disorders of sex development with normal adrenal function J Clin Endocrinol Metab 92 2007 991 999 (Pubitemid 46465674)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.3
, pp. 991-999
-
-
Lin, L.1
Philibert, P.2
Ferraz-de-Souza, B.3
Kelberman, D.4
Homfray, T.5
Albanese, A.6
Molini, V.7
Sebire, N.J.8
Einaudi, S.9
Conway, G.S.10
Hughes, I.A.11
Jameson, J.L.12
Sultan, C.13
Dattani, M.T.14
Achermann, J.C.15
-
12
-
-
77952789555
-
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: A case study
-
F.C. Soardi, F.B. Coeli, A.T. Maciel-Guerra, G. Guerra-Junior, and M.P. Mello Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study J Appl Genet 51 2010 223 224
-
(2010)
J Appl Genet
, vol.51
, pp. 223-224
-
-
Soardi, F.C.1
Coeli, F.B.2
Maciel-Guerra, A.T.3
Guerra-Junior, G.4
Mello, M.P.5
-
13
-
-
4544336208
-
Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis
-
DOI 10.1210/jc.2004-0863
-
P. Canto, D. Söderlund, E. Reyes, and J.P. Méndez Mutations in the desert hedgehog (DHH) gene in patients with 46, XY complete pure gonadal dysgenesis J Clin Endocrinol Metab 89 2004 4480 4483 (Pubitemid 39244458)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.9
, pp. 4480-4483
-
-
Canto, P.1
Soderlund, D.2
Reyes, E.3
Mendez, J.P.4
-
14
-
-
0023091256
-
Abnormal sexual differentiation and neoplasia
-
DOI 10.1016/0165-4608(87)90180-4
-
M.S. Verp, and J.L. Simpson Abnormal sexual differentiation and neoplasia Cancer Genet Cytogenet 25 1987 191 218 (Pubitemid 17057632)
-
(1987)
Cancer Genetics and Cytogenetics
, vol.25
, Issue.2
, pp. 191-218
-
-
Verp, M.S.1
Simpson, J.L.2
-
15
-
-
41949111680
-
Swyer syndrome: Presentation and outcomes
-
DOI 10.1111/j.1471-0528.2008.01703.x
-
L. Michala, D. Goswami, S.M. Creighton, and G.S. Conway Swyer syndrome: presentation and outcomes Brit J Obstet Gynecol 115 2008 737 741 (Pubitemid 351514590)
-
(2008)
BJOG: An International Journal of Obstetrics and Gynaecology
, vol.115
, Issue.6
, pp. 737-741
-
-
Michala, L.1
Goswami, D.2
Creighton, S.M.3
Conway, G.S.4
-
16
-
-
31544473451
-
A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal
-
J.G. Assumpão, A.T. Maciel-Guerra, A.P. Marques-de-Faria, G. Guerra Jr., M.T.M. Baptista, and M.P. De Mello A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal J Endocrinol Invest 28 2005 651 656 (Pubitemid 43162876)
-
(2005)
Journal of Endocrinological Investigation
, vol.28
, Issue.7
, pp. 651-656
-
-
Assumpcao, J.G.1
Ferraz, L.F.C.2
Benedetti, C.E.3
Maciel-Guerra, A.T.4
Guerra Jr., G.5
Marques-De-Faria, A.P.6
Baptista, M.T.M.7
De Mello, M.P.8
-
17
-
-
0036460676
-
Novel mutations affecting SRY DNA-binding activity: The HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes
-
DOI 10.1007/s00109-002-0376-9
-
J.G. Assumpão, C.E. Benedetti, A.T. Maciel-Guerra, G. Guerra-Júnior, M.T.M. Baptista, and M.R. Scolfaro Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes J Mol Med 80 2002 782 790 (Pubitemid 35478126)
-
(2002)
Journal of Molecular Medicine
, vol.80
, Issue.12
, pp. 782-790
-
-
Assumpcao, J.G.1
Benedetti, C.E.2
Maciel-Guerra, A.T.3
Guerra Jr., G.4
Baptista, M.T.M.5
Scolfaro, M.R.6
De Mello, M.P.7
-
18
-
-
79955432542
-
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46, XY disorder of sex development
-
J.L. Cunha, F.C. Soardi, R.D. Bernardi, L.E. Oliveira, C.E. Benedetti, and G. Guerra-Júnior The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46, XY disorder of sex development Braz J Med Biol Res 44 2011 361 365
-
(2011)
Braz J Med Biol Res
, vol.44
, pp. 361-365
-
-
Cunha, J.L.1
Soardi, F.C.2
Bernardi, R.D.3
Oliveira, L.E.4
Benedetti, C.E.5
Guerra-Júnior, G.6
-
19
-
-
18344416767
-
Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46, XY gonadal dysgenesis
-
J.G. Assumpão, A.T. Maciel-Guerra, and M.P. De Mello Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46, XY gonadal dysgenesis J Pediatr Endocrinol Metab 12 1999 455 457
-
(1999)
J Pediatr Endocrinol Metab
, vol.12
, pp. 455-457
-
-
Assumpão, J.G.1
Maciel-Guerra, A.T.2
De Mello, M.P.3
-
20
-
-
0035987001
-
Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation
-
DOI 10.1007/s100380200040
-
S. Uehara, M. Hashiyada, K. Sato, M. Nata, T. Funato, and K. Okamura Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation J Hum Genet 47 2002 279 284 (Pubitemid 34717616)
-
(2002)
Journal of Human Genetics
, vol.47
, Issue.6
, pp. 279-284
-
-
Uehara, S.1
Hashiyada, M.2
Sato, K.3
Nata, M.4
Funato, T.5
Okamura, K.6
|