-
1
-
-
0025250731
-
Genetic evidence equating SRY and the testis-determining factor
-
Berta P., Hawkins J. R., Sinclair A. H., Taylor A., Griffiths B. L., Goodfellow P. N., Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature: 1990; 348 448 450
-
(1990)
Nature
, vol.348
, pp. 448-450
-
-
Berta, P.1
Hawkins, J.R.2
Sinclair, A.H.3
Taylor, A.4
Griffiths, B.L.5
Goodfellow, P.N.6
Fellous, M.7
-
2
-
-
0025877323
-
Male development of chromosomally female mice transgenic for Sry
-
Koopman P., Gubbay J., Vivian N., Goodfellow P. N., Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature: 1991; 351 117 121
-
(1991)
Nature
, vol.351
, pp. 117-121
-
-
Koopman, P.1
Gubbay, J.2
Vivian, N.3
Goodfellow, P.N.4
Lovell-Badge, R.5
-
3
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
Sinclair A. H., Berta P., Palmer M. S., Hawkins J. R., Griffiths B. L., Smith M. J., Foster J. W., Frischauf A. M., Lovell-Badge R., Goodfellow P. N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature: 1990; 346 240 244
-
(1990)
Nature
, vol.346
, pp. 240-244
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
Hawkins, J.R.4
Griffiths, B.L.5
Smith, M.J.6
Foster, J.W.7
Frischauf, A.M.8
Lovell-Badge, R.9
Goodfellow, P.N.10
-
4
-
-
45149093155
-
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
-
Sekido R., Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature: 2008; 453 930 934
-
(2008)
Nature
, vol.453
, pp. 930-934
-
-
Sekido, R.1
Lovell-Badge, R.2
-
5
-
-
33750489078
-
R-spondin1 is essential in sex determination, skin differentiation and malignancy
-
Parma P., Radi O., Vidal V., Chaboissier M. C., Dellambra E., Valentini S., Guerra L., Schedl A., Camerino G. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet: 2006; 38 1304 1309
-
(2006)
Nat Genet
, vol.38
, pp. 1304-1309
-
-
Parma, P.1
Radi, O.2
Vidal, V.3
Chaboissier, M.C.4
Dellambra, E.5
Valentini, S.6
Guerra, L.7
Schedl, A.8
Camerino, G.9
-
6
-
-
84867016811
-
WNT4, RSPO1, and FOXL2 in sex development
-
Biason-Lauber A. WNT4, RSPO1, and FOXL2 in sex development. Semin Reprod Med: 2012; 30 387 395
-
(2012)
Semin Reprod Med
, vol.30
, pp. 387-395
-
-
Biason-Lauber, A.1
-
7
-
-
4143139955
-
A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman
-
Biason-Lauber A., Konrad D., Navratil F., Schoenle E. J. A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman. N Engl J Med: 2004; 351 792 798
-
(2004)
N Engl J Med
, vol.351
, pp. 792-798
-
-
Biason-Lauber, A.1
Konrad, D.2
Navratil, F.3
Schoenle, E.J.4
-
8
-
-
0035002512
-
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans
-
Jordan B. K., Mohammed M., Ching S. T., Delot E., Chen X. N., Dewing P., Swain A., Rao P. N., Elejalde B. R., Vilain E. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet: 2001; 68 1102 1109
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1102-1109
-
-
Jordan, B.K.1
Mohammed, M.2
Ching, S.T.3
Delot, E.4
Chen, X.N.5
Dewing, P.6
Swain, A.7
Rao, P.N.8
Elejalde, B.R.9
Vilain, E.10
-
9
-
-
34547728253
-
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
-
Barbaro M., Oscarson M., Schoumans J., Staaf J., Ivarsson S. A., Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab: 2007; 92 3305 3313
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3305-3313
-
-
Barbaro, M.1
Oscarson, M.2
Schoumans, J.3
Staaf, J.4
Ivarsson, S.A.5
Wedell, A.6
-
10
-
-
33748439007
-
S. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine, and E. The European Society for Paediatric, Consensus statement on management of intersex disorders. International Consensus Conference on Intersex
-
Lee P. A., Houk C. P., Ahmed S. F., Hughes I. A. S. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine, and E. the European Society for Paediatric, Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics: 2006; 118 e488 e500
-
(2006)
Pediatrics
, vol.118
, pp. e488-e500
-
-
Lee, P.A.1
Houk, C.P.2
Ahmed, S.F.3
Hughes, I.A.4
-
11
-
-
65549123691
-
Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: Study design, description of the study population, and data quality
-
Lux A., Kropf S., Kleinemeier E., Jurgensen M., Thyen U. D.S.D.N.W. Group Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality. BMC Public Health: 2009; 9 110
-
(2009)
BMC Public Health
, vol.9
, pp. 110
-
-
Lux, A.1
Kropf, S.2
Kleinemeier, E.3
Jurgensen, M.4
Thyen, U.5
-
12
-
-
84867001695
-
Psychological aspects of the treatment of patients with disorders of sex development
-
Sandberg D. E., Gardner M., Cohen-Kettenis P. T. Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med: 2012; 30 443 452
-
(2012)
Semin Reprod Med
, vol.30
, pp. 443-452
-
-
Sandberg, D.E.1
Gardner, M.2
Cohen-Kettenis, P.T.3
-
13
-
-
55749116352
-
Long-term outcome of disorders of sex development
-
Warne G. L. Long-term outcome of disorders of sex development. Sex Dev: 2008; 2 268 277
-
(2008)
Sex Dev
, vol.2
, pp. 268-277
-
-
Warne, G.L.1
-
14
-
-
0030948046
-
Mutations in SRY and SOX9: Testis-determining genes
-
Cameron F. J., Sinclair A. H. Mutations in SRY and SOX9: testis-determining genes. Hum Mutat: 1997; 9 388 395
-
(1997)
Hum Mutat
, vol.9
, pp. 388-395
-
-
Cameron, F.J.1
Sinclair, A.H.2
-
15
-
-
0027371183
-
Mutational analysis of SRY in XY females
-
Hawkins J. R. Mutational analysis of SRY in XY females. Hum Mutat: 1993; 2 347 350
-
(1993)
Hum Mutat
, vol.2
, pp. 347-350
-
-
Hawkins, J.R.1
-
16
-
-
0030891395
-
Mutations and sequence variants in the testis-determining region of the y chromosome in individuals with a 46,XY female phenotype
-
Veitia R., Ion A., Barbaux S., Jobling M. A., Souleyreau N., Ennis K., Ostrer H., Tosi M., Meo T., Chibani J., Fellous M., McElreavey K. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet: 1997; 99 648 652
-
(1997)
Hum Genet
, vol.99
, 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
-
18
-
-
84928350986
-
Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
-
Baxter R. M., Arboleda V. A., Lee H., Barseghyan H., Adam M. P., Fechner P. Y., Bargman R., Keegan C., Travers S., Schelley S., Hudgins L., Mathew R. P., Stalker H. J., Zori R., Gordon O. K., Ramos-Platt L., Pawlikowska-Haddal A., Eskin A., Nelson S. F., Delot E., Vilain E. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development. J Clin Endocrinol Metab: 2015; 100 E333 E344
-
(2015)
J Clin Endocrinol Metab
, vol.100
, pp. E333-E344
-
-
Baxter, R.M.1
Arboleda, V.A.2
Lee, H.3
Barseghyan, H.4
Adam, M.P.5
Fechner, P.Y.6
Bargman, R.7
Keegan, C.8
Travers, S.9
Schelley, S.10
Hudgins, L.11
Mathew, R.P.12
Stalker, H.J.13
Zori, R.14
Gordon, O.K.15
Ramos-Platt, L.16
Pawlikowska-Haddal, A.17
Eskin, A.18
Nelson, S.F.19
Delot, E.20
Vilain, E.21
more..
-
19
-
-
78649781937
-
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
-
Pearlman A., Loke J., Le Caignec C., White S., Chin L., Friedman A., Warr N., Willan J., Brauer D., Farmer C., Brooks E., Oddoux C., Riley B., Shajahan S., Camerino G., Homfray T., Crosby A. H., Couper J., David A., Greenfield A., Sinclair A., Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet: 2010; 87 898 904
-
(2010)
Am J Hum Genet
, vol.87
, pp. 898-904
-
-
Pearlman, A.1
Loke, J.2
Le Caignec, C.3
White, S.4
Chin, L.5
Friedman, A.6
Warr, N.7
Willan, J.8
Brauer, D.9
Farmer, C.10
Brooks, E.11
Oddoux, C.12
Riley, B.13
Shajahan, S.14
Camerino, G.15
Homfray, T.16
Crosby, A.H.17
Couper, J.18
David, A.19
Greenfield, A.20
Sinclair, A.21
Ostrer, H.22
more..
-
22
-
-
0026793969
-
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
-
McElreavey K., Rappaport R., Vilain E., Abbas N., Richaud F., Lortat-Jacob S., Berger R., Le Coniat M., Boucekkine C., Kucheria K., Temtamy S., Nihoul-Fekete C., Brauner R., Fellous M. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet: 1992; 90 121 125
-
(1992)
Hum Genet
, vol.90
, pp. 121-125
-
-
McElreavey, K.1
Rappaport, R.2
Vilain, E.3
Abbas, N.4
Richaud, F.5
Lortat-Jacob, S.6
Berger, R.7
Le Coniat, M.8
Boucekkine, C.9
Kucheria, K.10
Temtamy, S.11
Nihoul-Fekete, C.12
Brauner, R.13
Fellous, M.14
-
23
-
-
84884319939
-
Translational genetics for diagnosis of human disorders of sex development
-
Baxter R. M., Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet: 2013; 14 371 392
-
(2013)
Annu Rev Genomics Hum Genet
, vol.14
, pp. 371-392
-
-
Baxter, R.M.1
Vilain, E.2
-
24
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Muscatelli F., Strom T. M., Walker A. P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W., Schwarz H. P., Kaplan J-C, Camerino G., Meitinger T., Monaco A. P. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature: 1994; 372 672 676
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
Zanaria, E.4
Recan, D.5
Meindl, A.6
Bardoni, B.7
Guioli, S.8
Zehetner, G.9
Rabl, W.10
Schwarz, H.P.11
Kaplan, J.-C.12
Camerino, G.13
Meitinger, T.14
Monaco, A.P.15
-
25
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
Bardoni B., Zanaria E., Guioli S., Floridia G., Worley K. C., Tonini G., Ferrante E., Chiumello G., McCabe E. R., Fraccaro M., Zuffardi O., Camerino G. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet: 1994; 7 497 501
-
(1994)
Nat Genet
, vol.7
, pp. 497-501
-
-
Bardoni, B.1
Zanaria, E.2
Guioli, S.3
Floridia, G.4
Worley, K.C.5
Tonini, G.6
Ferrante, E.7
Chiumello, G.8
McCabe, E.R.9
Fraccaro, M.10
Zuffardi, O.11
Camerino, G.12
-
26
-
-
77956915108
-
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci
-
Ledig S., Hiort O., Scherer G., Hoffmann M., Wolff G., Morlot S., Kuechler A., Wieacker P. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Hum Reprod: 2010; 25 2637 2646
-
(2010)
Hum Reprod
, vol.25
, pp. 2637-2646
-
-
Ledig, S.1
Hiort, O.2
Scherer, G.3
Hoffmann, M.4
Wolff, G.5
Morlot, S.6
Kuechler, A.7
Wieacker, P.8
-
27
-
-
79952333478
-
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis
-
White S., Ohnesorg T., Notini A., Roeszler K., Hewitt J., Daggag H., Smith C., Turbitt E., Gustin S., van den Bergen J., Miles D., Western P., Arboleda V., Schumacher V., Gordon L., Bell K., Bengtsson H., Speed T., Hutson J., Warne G., Harley V., Koopman P., Vilain E., Sinclair A. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One: 2011; 6 e17793
-
(2011)
PLoS One
, vol.6
, pp. e17793
-
-
White, S.1
Ohnesorg, T.2
Notini, A.3
Roeszler, K.4
Hewitt, J.5
Daggag, H.6
Smith, C.7
Turbitt, E.8
Gustin, S.9
Van Den Bergen, J.10
Miles, D.11
Western, P.12
Arboleda, V.13
Schumacher, V.14
Gordon, L.15
Bell, K.16
Bengtsson, H.17
Speed, T.18
Hutson, J.19
Warne, G.20
Harley, V.21
Koopman, P.22
Vilain, E.23
Sinclair, A.24
more..
-
28
-
-
0242664116
-
Sox3 is required for gonadal function, but not sex determination, in males and females
-
Weiss J., Meeks J. J., Hurley L., Raverot G., Frassetto A., Jameson J. L. Sox3 is required for gonadal function, but not sex determination, in males and females. Mol Cell Biol: 2003; 23 8084 8091
-
(2003)
Mol Cell Biol
, vol.23
, pp. 8084-8091
-
-
Weiss, J.1
Meeks, J.J.2
Hurley, L.3
Raverot, G.4
Frassetto, A.5
Jameson, J.L.6
-
29
-
-
78650938438
-
Identification of SOX3 as an XX male sex reversal gene in mice and humans
-
Sutton E., Hughes J., White S., Sekido R., Tan J., Arboleda V., Rogers N., Knower K., Rowley L., Eyre H., Rizzoti K., McAninch D., Goncalves J., Slee J., Turbitt E., Bruno D., Bengtsson H., Harley V., Vilain E., Sinclair A., Lovell-Badge R., Thomas P. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest: 2011; 121 328 341
-
(2011)
J Clin Invest
, vol.121
, pp. 328-341
-
-
Sutton, E.1
Hughes, J.2
White, S.3
Sekido, R.4
Tan, J.5
Arboleda, V.6
Rogers, N.7
Knower, K.8
Rowley, L.9
Eyre, H.10
Rizzoti, K.11
McAninch, D.12
Goncalves, J.13
Slee, J.14
Turbitt, E.15
Bruno, D.16
Bengtsson, H.17
Harley, V.18
Vilain, E.19
Sinclair, A.20
Lovell-Badge, R.21
Thomas, P.22
more..
-
30
-
-
84862704270
-
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication
-
Moalem S., Babul-Hirji R., Stavropolous D. J., Wherrett D., Bagli D. J., Thomas P., Chitayat D. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. Am J Med Genet A: 2012; 158A 1759 1764
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 1759-1764
-
-
Moalem, S.1
Babul-Hirji, R.2
Stavropolous, D.J.3
Wherrett, D.4
Bagli, D.J.5
Thomas, P.6
Chitayat, D.7
-
31
-
-
84937526184
-
Testis development in the absence of SRY: Chromosomal rearrangements at SOX9 and SOX3
-
Nov 5 10.1038/ejhg.2014.237 [Epub ahead of print]
-
Vetro A., Dehghani M. R., Kraoua L., Giorda R., Beri S., Cardarelli L., Merico M., Manolakos E., Bustamante A. P., Castro A., Radi O., Camerino G., Brusco A., Sabaghian M., Sofocleous C., Forzano F., Palumbo P., Palumbo O., Calvano S., Zelante L., Grammatico P., Giglio S., Basly M., Chaabouni M., Carella M., Russo G., Bonaglia M. C., Zuffardi O. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Eur J Hum Genet: 2014; Nov 5 10.1038/ejhg.2014.237 [Epub ahead of print]
-
(2014)
Eur J Hum Genet
-
-
Vetro, A.1
Dehghani, M.R.2
Kraoua, L.3
Giorda, R.4
Beri, S.5
Cardarelli, L.6
Merico, M.7
Manolakos, E.8
Bustamante, A.P.9
Castro, A.10
Radi, O.11
Camerino, G.12
Brusco, A.13
Sabaghian, M.14
Sofocleous, C.15
Forzano, F.16
Palumbo, P.17
Palumbo, O.18
Calvano, S.19
Zelante, L.20
Grammatico, P.21
Giglio, S.22
Basly, M.23
Chaabouni, M.24
Carella, M.25
Russo, G.26
Bonaglia, M.C.27
Zuffardi, O.28
more..
-
32
-
-
84857192381
-
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
-
White S., Hewitt J., Turbitt E., van der Zwan Y., Hersmus R., Drop S., Koopman P., Harley V., Cools M., Looijenga L., Sinclair A. A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development. Eur J Hum Genet: 2012; 20 348 351
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 348-351
-
-
White, S.1
Hewitt, J.2
Turbitt, E.3
Van Der Zwan, Y.4
Hersmus, R.5
Drop, S.6
Koopman, P.7
Harley, V.8
Cools, M.9
Looijenga, L.10
Sinclair, A.11
-
33
-
-
35348958396
-
WWOX hypomorphic mice display a higher incidence of B-cell lymphomas and develop testicular atrophy
-
Ludes-Meyers J. H., Kil H., Nunez M. I., Conti C. J., Parker-Thornburg J., Bedford M. T., Aldaz C. M. WWOX hypomorphic mice display a higher incidence of B-cell lymphomas and develop testicular atrophy. Gens Chromosomes Cancer: 2007; 46 1129 1136
-
(2007)
Gens Chromosomes Cancer
, vol.46
, pp. 1129-1136
-
-
Ludes-Meyers, J.H.1
Kil, H.2
Nunez, M.I.3
Conti, C.J.4
Parker-Thornburg, J.5
Bedford, M.T.6
Aldaz, C.M.7
-
34
-
-
66349083856
-
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
-
Lecointre C., Pichon O., Hamel A., Heloury Y., Michel-Calemard L., Morel Y., David A., Le Caignec C. Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. Am J Med Genet A: 2009; 149A 1183 1189
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1183-1189
-
-
Lecointre, C.1
Pichon, O.2
Hamel, A.3
Heloury, Y.4
Michel-Calemard, L.5
Morel, Y.6
David, A.7
Le Caignec, C.8
-
35
-
-
78650924037
-
A SOX9 duplication and familial 46,XX developmental testicular disorder
-
Cox J. J., Willatt L., Homfray T., Woods C. G. A SOX9 duplication and familial 46,XX developmental testicular disorder. N Engl J Med: 2011; 364 91 93
-
(2011)
N Engl J Med
, vol.364
, pp. 91-93
-
-
Cox, J.J.1
Willatt, L.2
Homfray, T.3
Woods, C.G.4
-
36
-
-
84856009018
-
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
-
Benko S., Gordon C. T., Mallet D., Sreenivasan R., Thauvin-Robinet C., Brendehaug A., Thomas S., Bruland O., David M., Nicolino M., Labalme A., Sanlaville D., Callier P., Malan V., Huet F., Molven A., Dijoud F., Munnich A., Faivre L., Amiel J., Harley V., Houge G., Morel Y., Lyonnet S. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet: 2011; 48 825 830
-
(2011)
J Med Genet
, vol.48
, pp. 825-830
-
-
Benko, S.1
Gordon, C.T.2
Mallet, D.3
Sreenivasan, R.4
Thauvin-Robinet, C.5
Brendehaug, A.6
Thomas, S.7
Bruland, O.8
David, M.9
Nicolino, M.10
Labalme, A.11
Sanlaville, D.12
Callier, P.13
Malan, V.14
Huet, F.15
Molven, A.16
Dijoud, F.17
Munnich, A.18
Faivre, L.19
Amiel, J.20
Harley, V.21
Houge, G.22
Morel, Y.23
Lyonnet, S.24
more..
-
37
-
-
80955165995
-
XX males SRY negative: A confirmed cause of infertility
-
Vetro A., Ciccone R., Giorda R., Patricelli M. G., Della Mina E., Forlino A., Zuffardi O. XX males SRY negative: a confirmed cause of infertility. J Med Genet: 2011; 48 710 712
-
(2011)
J Med Genet
, vol.48
, pp. 710-712
-
-
Vetro, A.1
Ciccone, R.2
Giorda, R.3
Patricelli, M.G.4
Della Mina, E.5
Forlino, A.6
Zuffardi, O.7
-
38
-
-
84929300014
-
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
-
Kim G. J., Sock E., Buchberger A., Just W., Denzer F., Hoepffner W., German J., Cole T., Mann J., Seguin J. H., Zipf W., Costigan C., Schmiady H., Rostasy M., Kramer M., Kaltenbach S., Rosler B., Georg I., Troppmann E., Teichmann A. C., Salfelder A., Widholz S. A., Wieacker P., Hiort O., Camerino G., Radi O., Wegner M., Arnold H. H., Scherer G. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet: 2015; 52 240 247
-
(2015)
J Med Genet
, vol.52
, pp. 240-247
-
-
Kim, G.J.1
Sock, E.2
Buchberger, A.3
Just, W.4
Denzer, F.5
Hoepffner, W.6
German, J.7
Cole, T.8
Mann, J.9
Seguin, J.H.10
Zipf, W.11
Costigan, C.12
Schmiady, H.13
Rostasy, M.14
Kramer, M.15
Kaltenbach, S.16
Rosler, B.17
Georg, I.18
Troppmann, E.19
Teichmann, A.C.20
Salfelder, A.21
Widholz, S.A.22
Wieacker, P.23
Hiort, O.24
Camerino, G.25
Radi, O.26
Wegner, M.27
Arnold, H.H.28
Scherer, G.29
more..
-
39
-
-
84880755224
-
9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism
-
Quinonez S. C., Park J. M., Rabah R., Owens K. M., Yashar B. M., Glover T. W., Keegan C. E. 9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. Am J Med Genet A: 2013; 161A 1882 1896
-
(2013)
Am J Med Genet A
, vol.161 A
, pp. 1882-1896
-
-
Quinonez, S.C.1
Park, J.M.2
Rabah, R.3
Owens, K.M.4
Yashar, B.M.5
Glover, T.W.6
Keegan, C.E.7
-
40
-
-
84879949667
-
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development
-
Igarashi M., Dung V. C., Suzuki E., Ida S., Nakacho M., Nakabayashi K., Mizuno K., Hayashi Y., Kohri K., Kojima Y., Ogata T., Fukami M. Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. PLoS One: 2013; 8 e68194
-
(2013)
PLoS One
, vol.8
, pp. e68194
-
-
Igarashi, M.1
Dung, V.C.2
Suzuki, E.3
Ida, S.4
Nakacho, M.5
Nakabayashi, K.6
Mizuno, K.7
Hayashi, Y.8
Kohri, K.9
Kojima, Y.10
Ogata, T.11
Fukami, M.12
-
41
-
-
78149429222
-
Identification of de novo copy number variants associated with human disorders of sexual development
-
Tannour-Louet M., Han S., Corbett S. T., Louet J. F., Yatsenko S., Meyers L., Shaw C. A., Kang S. H., Cheung S. W., Lamb D. J. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One: 2010; 5 e15392
-
(2010)
PLoS One
, vol.5
, pp. e15392
-
-
Tannour-Louet, M.1
Han, S.2
Corbett, S.T.3
Louet, J.F.4
Yatsenko, S.5
Meyers, L.6
Shaw, C.A.7
Kang, S.H.8
Cheung, S.W.9
Lamb, D.J.10
-
42
-
-
84904054043
-
Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action
-
Tannour-Louet M., Han S., Louet J. F., Zhang B., Romero K., Addai J., Sahin A., Cheung S. W., Lamb D. J. Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med: 2014; 20 715 724
-
(2014)
Nat Med
, vol.20
, pp. 715-724
-
-
Tannour-Louet, M.1
Han, S.2
Louet, J.F.3
Zhang, B.4
Romero, K.5
Addai, J.6
Sahin, A.7
Cheung, S.W.8
Lamb, D.J.9
-
43
-
-
84918840439
-
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
-
Lee H., Deignan J. L., Dorrani N., Strom S. P., Kantarci S., Quintero-Rivera F., Das K., Toy T., Harry B., Yourshaw M., Fox M., Fogel B. L., Martinez-Agosto J. A., Wong D. A., Chang V. Y., Shieh P. B., Palmer C. G., Dipple K. M., Grody W. W., Vilain E., Nelson S. F. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA: 2014; 312 1880 1887
-
(2014)
JAMA
, vol.312
, pp. 1880-1887
-
-
Lee, H.1
Deignan, J.L.2
Dorrani, N.3
Strom, S.P.4
Kantarci, S.5
Quintero-Rivera, F.6
Das, K.7
Toy, T.8
Harry, B.9
Yourshaw, M.10
Fox, M.11
Fogel, B.L.12
Martinez-Agosto, J.A.13
Wong, D.A.14
Chang, V.Y.15
Shieh, P.B.16
Palmer, C.G.17
Dipple, K.M.18
Grody, W.W.19
Vilain, E.20
Nelson, S.F.21
more..
-
44
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Genomes Project C Abecasis G. R., Altshuler D., Auton A., Brooks L. D., Durbin R. M., Gibbs R. A., Hurles M. E., McVean G. A. A map of human genome variation from population-scale sequencing. Nature: 2010; 467 1061 1073
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
Gibbs, R.A.6
Hurles, M.E.7
Mcvean, G.A.8
-
45
-
-
42149139456
-
Molecular Subcommittee of the ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Richards C. S., Bale S., Bellissimo D. B., Das S., Grody W. W., Hegde M. R., Lyon E., Ward B. E. A.L.Q.A.C Molecular Subcommittee of the ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med: 2008; 10 294 300
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
46
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
Biesecker L. G., Green R. C. Diagnostic clinical genome and exome sequencing. N Engl J Med: 2014; 370 2418 2425
-
(2014)
N Engl J Med
, vol.370
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
47
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang Y., Muzny D. M., Xia F., Niu Z., Person R., Ding Y., Ward P., Braxton A., Wang M., Buhay C., Veeraraghavan N., Hawes A., Chiang T., Leduc M., Beuten J., Zhang J., He W., Scull J., Willis A., Landsverk M., Craigen W. J., Bekheirnia M. R., Stray-Pedersen A., Liu P., Wen S., Alcaraz W., Cui H., Walkiewicz M., Reid J., Bainbridge M., Patel A., Boerwinkle E., Beaudet A. L., Lupski J. R., Plon S. E., Gibbs R. A., Eng C. M. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA: 2014; 312 1870 1879
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
Niu, Z.4
Person, R.5
Ding, Y.6
Ward, P.7
Braxton, A.8
Wang, M.9
Buhay, C.10
Veeraraghavan, N.11
Hawes, A.12
Chiang, T.13
Leduc, M.14
Beuten, J.15
Zhang, J.16
He, W.17
Scull, J.18
Willis, A.19
Landsverk, M.20
Craigen, W.J.21
Bekheirnia, M.R.22
Stray-Pedersen, A.23
Liu, P.24
Wen, S.25
Alcaraz, W.26
Cui, H.27
Walkiewicz, M.28
Reid, J.29
Bainbridge, M.30
Patel, A.31
Boerwinkle, E.32
Beaudet, A.L.33
Lupski, J.R.34
Plon, S.E.35
Gibbs, R.A.36
Eng, C.M.37
more..
-
48
-
-
84907998240
-
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia
-
Fogel B. L., Lee H., Deignan J. L., Strom S. P., Kantarci S., Wang X., Quintero-Rivera F., Vilain E., Grody W. W., Perlman S., Geschwind D. H., Nelson S. F. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol: 2014; 71 1237 1246
-
(2014)
JAMA Neurol
, vol.71
, pp. 1237-1246
-
-
Fogel, B.L.1
Lee, H.2
Deignan, J.L.3
Strom, S.P.4
Kantarci, S.5
Wang, X.6
Quintero-Rivera, F.7
Vilain, E.8
Grody, W.W.9
Perlman, S.10
Geschwind, D.H.11
Nelson, S.F.12
-
49
-
-
84907851830
-
Clinical whole exome sequencing in child neurology practice
-
Srivastava S., Cohen J. S., Vernon H., Baranano K., McClellan R., Jamal L., Naidu S., Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol: 2014; 76 473 483
-
(2014)
Ann Neurol
, vol.76
, pp. 473-483
-
-
Srivastava, S.1
Cohen, J.S.2
Vernon, H.3
Baranano, K.4
McClellan, R.5
Jamal, L.6
Naidu, S.7
Fatemi, A.8
-
50
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y., Muzny D. M., Reid J. G., Bainbridge M. N., Willis A., Ward P. A., Braxton A., Beuten J., Xia F., Niu Z., Hardison M., Person R., Bekheirnia M. R., Leduc M. S., Kirby A., Pham P., Scull J., Wang M., Ding Y., Plon S. E., Lupski J. R., Beaudet A. L., Gibbs R. A., Eng C. M. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med: 2013; 369 1502 1511
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
Hardison, M.11
Person, R.12
Bekheirnia, M.R.13
Leduc, M.S.14
Kirby, A.15
Pham, P.16
Scull, J.17
Wang, M.18
Ding, Y.19
Plon, S.E.20
Lupski, J.R.21
Beaudet, A.L.22
Gibbs, R.A.23
Eng, C.M.24
more..
-
52
-
-
84896491984
-
Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction
-
Lek N., Miles H., Bunch T., Pilfold-Wilkie V., Tadokoro-Cuccaro R., Davies J., Ong K. K., Hughes I. A. Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction. Arch Dis Child: 2014; 99 358 361
-
(2014)
Arch Dis Child
, vol.99
, pp. 358-361
-
-
Lek, N.1
Miles, H.2
Bunch, T.3
Pilfold-Wilkie, V.4
Tadokoro-Cuccaro, R.5
Davies, J.6
Ong, K.K.7
Hughes, I.A.8
-
53
-
-
84866988769
-
Steroidogenic factor-1 and human disease
-
El-Khairi R., Achermann J. C. Steroidogenic factor-1 and human disease. Semin Reprod Med: 2012; 30 374 381
-
(2012)
Semin Reprod Med
, vol.30
, pp. 374-381
-
-
El-Khairi, R.1
Achermann, J.C.2
-
54
-
-
79960706526
-
Phenotypic variation of SF1 gene mutations
-
Philibert P., Paris F., Audran F., Kalfa N., Polak M., Thibaud E., Pinto G., Houang M., Zenaty D., Leger J., Mas J. C., Pienkowski C., Einaudi S., Damiani D., Ten S., Sinha S., Poulat F., Sultan C. Phenotypic variation of SF1 gene mutations. Adv Exp Med Biol: 2011; 707 67 72
-
(2011)
Adv Exp Med Biol
, vol.707
, pp. 67-72
-
-
Philibert, P.1
Paris, F.2
Audran, F.3
Kalfa, N.4
Polak, M.5
Thibaud, E.6
Pinto, G.7
Houang, M.8
Zenaty, D.9
Leger, J.10
Mas, J.C.11
Pienkowski, C.12
Einaudi, S.13
Damiani, D.14
Ten, S.15
Sinha, S.16
Poulat, F.17
Sultan, C.18
-
55
-
-
80054789767
-
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias
-
Allali S., Muller J. B., Brauner R., Lourenco D., Boudjenah R., Karageorgou V., Trivin C., Lottmann H., Lortat-Jacob S., Nihoul-Fekete C., De Dreuzy O., McElreavey K., Bashamboo A. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS One: 2011; 6 e24117
-
(2011)
PLoS One
, vol.6
, pp. e24117
-
-
Allali, S.1
Muller, J.B.2
Brauner, R.3
Lourenco, D.4
Boudjenah, R.5
Karageorgou, V.6
Trivin, C.7
Lottmann, H.8
Lortat-Jacob, S.9
Nihoul-Fekete, C.10
De Dreuzy, O.11
McElreavey, K.12
Bashamboo, A.13
-
56
-
-
84880535720
-
American College of Medical, and Genomics, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green R. C., Berg J. S., Grody W. W., Kalia S. S., Korf B. R., Martin C. L., McGuire A. L., Nussbaum R. L., O'Daniel J. M., Ormond K. E., Rehm H. L., Watson M. S., Williams M. S., Biesecker L. G. American College of Medical, and Genomics, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med: 2013; 15 565 574
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
Rehm, H.L.11
Watson, M.S.12
Williams, M.S.13
Biesecker, L.G.14
-
57
-
-
84880515119
-
Not-so-incidental findings: The ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
-
Allyse M., Michie M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol: 2013; 31 439 441
-
(2013)
Trends Biotechnol
, vol.31
, pp. 439-441
-
-
Allyse, M.1
Michie, M.2
-
59
-
-
84893024615
-
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/beta-catenin signaling
-
Loke J., Pearlman A., Radi O., Zuffardi O., Giussani U., Pallotta R., Camerino G., Ostrer H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/beta-catenin signaling. Hum Mol Genet: 2014; 23 1073 1083
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1073-1083
-
-
Loke, J.1
Pearlman, A.2
Radi, O.3
Zuffardi, O.4
Giussani, U.5
Pallotta, R.6
Camerino, G.7
Ostrer, H.8
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