-
1
-
-
73649189424
-
Epitheliomas spinocellulaires sur atrophie cutanee congenitale dans deux familles à morbidité cancereuse elevée
-
Huriez CL, Agache P, Bombart M, Souillart F. Epitheliomas spinocellulaires sur atrophie cutanee congenitale dans deux familles à morbidité cancereuse elevée. Bull Soc Fr Derm Syph 1963: 70: 24-28.
-
(1963)
Bull Soc Fr Derm Syph
, vol.70
, pp. 24-28
-
-
Huriez, C.L.1
Agache, P.2
Bombart, M.3
Souillart, F.4
-
2
-
-
0007308948
-
Genodermatose sclero-atrophiante et keratodermique des extremités
-
Huriez CL, Deminatti M, Agache P, Delinas-Marsalet Y, Mennecier M. Genodermatose sclero-atrophiante et keratodermique des extremités. Ann Derm Syph 1969: 96: 135-146.
-
(1969)
Ann Derm Syph
, vol.96
, pp. 135-146
-
-
Huriez, C.L.1
Deminatti, M.2
Agache, P.3
Delinas-Marsalet, Y.4
Mennecier, M.5
-
3
-
-
0029878158
-
The scleoroatrophic syndrome of Huriez: A cancer-prone genodermatosis
-
Hamm H, Traupe H, Brocker EB, Shubert H, Kolde G. The scleoroatrophic syndrome of Huriez: a cancer-prone genodermatosis. Br J Dermatol 1996: 134: 512-518.
-
(1996)
Br J Dermatol
, vol.134
, pp. 512-518
-
-
Hamm, H.1
Traupe, H.2
Brocker, E.B.3
Shubert, H.4
Kolde, G.5
-
4
-
-
0017543794
-
La genodermatose scleroatrophiante et keratodermique des extremités
-
Lambert D, Planche H, Chapuis JL. La genodermatose scleroatrophiante et Keratodermique des extremités. Ann Dermatol Venereol 1977: 104: 654-657.
-
(1977)
Ann Dermatol Venereol
, vol.104
, pp. 654-657
-
-
Lambert, D.1
Planche, H.2
Chapuis, J.L.3
-
5
-
-
0029143535
-
Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): A reappraisal
-
Delaporte E, N'Guyen-Mailfer C, Janin A et al. Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal. Br J Dermatol 1995: 133: 409-416.
-
(1995)
Br J Dermatol
, vol.133
, pp. 409-416
-
-
Delaporte, E.1
N'Guyen-Mailfer, C.2
Janin, A.3
-
6
-
-
0030797628
-
The scleroatrophic svndrome of Huriez
-
Kavanagh GM, Jardine PE, Peachey RD, Murray JC, De Berker D. The scleroatrophic svndrome of Huriez. Br J Dermatol 1997: 137: 114-118.
-
(1997)
Br J Dermatol
, vol.137
, pp. 114-118
-
-
Kavanagh, G.M.1
Jardine, P.E.2
Peachey, R.D.3
Murray, J.C.4
De Berker, D.5
-
7
-
-
0025364886
-
A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif
-
Sinclair AH, Berta P, Palmer MS et al. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature 1990: 346: 240-243.
-
(1990)
Nature
, vol.346
, pp. 240-243
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
-
8
-
-
0025877323
-
Male development of chromosomally female mice transgenic for Sry
-
Koopman P, Gubbay J, Vivian N, Goodfellow P, 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.4
Lovell-Badge, R.5
-
9
-
-
0026599792
-
Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal
-
Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 1992: 88: 471-474.
-
(1992)
Hum Genet
, vol.88
, pp. 471-474
-
-
Hawkins, J.R.1
Taylor, A.2
Berta, P.3
Levilliers, J.4
Van Der Auwera, B.5
Goodfellow, P.N.6
-
10
-
-
0027936497
-
Sex determination
-
Hawkins JR. Sex determination. Hum Mol Genet 1994: 3: 1463-1467.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1463-1467
-
-
Hawkins, J.R.1
-
11
-
-
0025258480
-
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
-
Jager RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990: 348: 452-454.
-
(1990)
Nature
, vol.348
, pp. 452-454
-
-
Jager, R.J.1
Anvret, M.2
Hall, K.3
Scherer, G.4
-
12
-
-
0026442281
-
XY sex reversal associated to a deletion 5′ to the SRY 'HMG box' in the testis determining region
-
Mc Elreavey K, Vilain E, Abbas N et al. XY sex reversal associated to a deletion 5′ to the SRY 'HMG box' in the testis determining region. Proc Natl Acad Sci USA 1992: 89: 11016-11020.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11016-11020
-
-
Mc Elreavey, K.1
Vilain, E.2
Abbas, N.3
-
13
-
-
0027935188
-
A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
-
Iida T, Nakahori Y, Komaki F et al. A novel missense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet 1994: 3: 1437-1438.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1437-1438
-
-
Iida, T.1
Nakahori, Y.2
Komaki, F.3
-
14
-
-
0027513379
-
The role of the sex determining region Y gene (SRY) in the etiology of 46,XX maleness
-
Fechner PY, Marcantonio SM, Jaswaney VJ et al. The role of the sex determining region Y gene (SRY) in the etiology of 46,XX maleness. J Clin Endocrinol Metab 1993: 76: 690-696.
-
(1993)
J Clin Endocrinol Metab
, vol.76
, pp. 690-696
-
-
Fechner, P.Y.1
Marcantonio, S.M.2
Jaswaney, V.J.3
-
15
-
-
0029154439
-
Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion
-
Tar A, Solyom J, Gyorvari B, Ion B et al. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Hum Genet 1995: 96: 464-468.
-
(1995)
Hum Genet
, vol.96
, pp. 464-468
-
-
Tar, A.1
Solyom, J.2
Gyorvari, B.3
Ion, B.4
-
16
-
-
2642680023
-
Two SRY-negative XX male brothers without genital ambiguity
-
Zenteno JC, Lopez M, Vera C, Mendez JP, Kofman-Alfaro S. Two SRY-negative XX male brothers without genital ambiguity. Hum Genet 1997: 100: 606-610.
-
(1997)
Hum Genet
, vol.100
, pp. 606-610
-
-
Zenteno, J.C.1
Lopez, M.2
Vera, C.3
Mendez, J.P.4
Kofman-Alfaro, S.5
-
17
-
-
0027372859
-
Familial true hermaphroditism: Paternal and maternal transmission of true hermaphroditism (46,XX) and XX males in the absence of Y-chromosomal sequences
-
Kuhnle U, Schwartz HP, Lohrs U, Stengel-Ruthkowsky S, Cleve H, Braun A. Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX males in the absence of Y-chromosomal sequences. Hum Genet 1993: 92: 571-576.
-
(1993)
Hum Genet
, vol.92
, pp. 571-576
-
-
Kuhnle, U.1
Schwartz, H.P.2
Lohrs, U.3
Stengel-Ruthkowsky, S.4
Cleve, H.5
Braun, A.6
-
18
-
-
0015265706
-
Nature and origin of males with XX sex chromosome
-
de la Chapelle A. Nature and origin of males with XX sex chromosome. Am J Hum Genet 1972: 24: 71-105.
-
(1972)
Am J Hum Genet
, vol.24
, pp. 71-105
-
-
De La Chapelle, A.1
-
19
-
-
0025186924
-
Genotype phenotype correlations in XX males and their bearing on current theories of sex determination
-
Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL. Genotype phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet 1990: 84: 198-202.
-
(1990)
Hum Genet
, vol.84
, pp. 198-202
-
-
Ferguson-Smith, M.A.1
Cooke, A.2
Affara, N.A.3
Boyd, E.4
Tolmie, J.L.5
-
20
-
-
0016328318
-
New giemsa method for the differential staining of sister chromatids
-
Perry P, Wolff S. New Giemsa method for the differential staining of sister chromatids. Nature 1974: 251: 156-158.
-
(1974)
Nature
, vol.251
, pp. 156-158
-
-
Perry, P.1
Wolff, S.2
-
21
-
-
0016766199
-
Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining
-
Grzeschik KH, Kim MA, Johannsmann R. Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Hum Genet 1975: 29: 41-49.
-
(1975)
Hum Genet
, vol.29
, pp. 41-49
-
-
Grzeschik, K.H.1
Kim, M.A.2
Johannsmann, R.3
-
22
-
-
0024563577
-
Sensitivity to genotoxic effects of bleomycin in humans: Possible relationship to environmental carcinogenesis
-
Hsu TC, Johnston DA, Cherry LM. Sensitivity to genotoxic effects of bleomycin in humans: possible relationship to environmental carcinogenesis. Int J Cancer 1989: 43: 403-409.
-
(1989)
Int J Cancer
, vol.43
, pp. 403-409
-
-
Hsu, T.C.1
Johnston, D.A.2
Cherry, L.M.3
-
23
-
-
0025612527
-
Fragile site induction by aphidicolin may be increased in parents of neuroblastoma patients
-
Vernole P, Tedeschi B, Nicoletti B. Fragile site induction by aphidicolin may be increased in parents of neuroblastoma patients. Cancer Genet Cytogenet 1990: 50: 35-44.
-
(1990)
Cancer Genet Cytogenet
, vol.50
, pp. 35-44
-
-
Vernole, P.1
Tedeschi, B.2
Nicoletti, B.3
-
24
-
-
0026756965
-
The human Y chromosome: A 43-interval map based on naturally occurring deletions
-
Vollrath D, Foote S, Hilton A et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992: 258: 52-59.
-
(1992)
Science
, vol.258
, pp. 52-59
-
-
Vollrath, D.1
Foote, S.2
Hilton, A.3
-
25
-
-
0030725069
-
Functional coherence of the human Y chromosome
-
Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997: 278: 675-679.
-
(1997)
Science
, vol.278
, pp. 675-679
-
-
Lahn, B.T.1
Page, D.C.2
-
26
-
-
0024360902
-
ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escape X inactivation
-
Schneider-Gadicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escape X inactivation. Cell 1989: 57: 1247-1258.
-
(1989)
Cell
, vol.57
, pp. 1247-1258
-
-
Schneider-Gadicke, A.1
Beer-Romero, P.2
Brown, L.G.3
Nussbaum, R.4
Page, D.C.5
-
27
-
-
0344043347
-
Mammalian sex determination: Joining pieces of the genetic puzzle
-
Jemenez F, Burgos M. Mammalian sex determination: joining pieces of the genetic puzzle. Bioessay 1998: 20: 696-699.
-
(1998)
Bioessay
, vol.20
, pp. 696-699
-
-
Jemenez, F.1
Burgos, M.2
-
28
-
-
0024601928
-
Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X, Y and 9
-
Habeebu SSM, Kalaitsidaki M, Bishop CE. Ferguson-Smith MA. Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X, Y and 9. Nucleic Acids Res 1989: 17: 2987-2999.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 2987-2999
-
-
Habeebu, S.S.M.1
Kalaitsidaki, M.2
Bishop, C.E.3
Ferguson-Smith, M.A.4
-
29
-
-
0031947449
-
Failure of testicular development associated with a rearrangement of 9p24. I proximal to the SNF2 gene
-
Ion R, Telvi R, Chaussain JL et al. Failure of testicular development associated with a rearrangement of 9p24. I proximal to the SNF2 gene. Hum Genet 1998: 102: 151-156.
-
(1998)
Hum Genet
, vol.102
, pp. 151-156
-
-
Ion, R.1
Telvi, R.2
Chaussain, J.L.3
-
30
-
-
17344374326
-
An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family
-
Slaney SF, Chalmers IJ, Affara NA, Chitty LS. An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. J Med Genet 1998: 35 (1): 17-22.
-
(1998)
J Med Genet
, vol.35
, Issue.1
, pp. 17-22
-
-
Slaney, S.F.1
Chalmers, I.J.2
Affara, N.A.3
Chitty, L.S.4
-
31
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
Bardoni B, Zanaria E, Guioli S et al. 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
-
32
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in SRY-related gene
-
Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in SRY-related gene. Nature 1994: 327: 525-530.
-
(1994)
Nature
, vol.327
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
33
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
-
Wagner T, Wirth J, Meyer J et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994: 79: 1111-1120.
-
(1994)
Cell
, vol.79
, pp. 1111-1120
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
-
34
-
-
0027324549
-
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPDI) to 17q24.3-q25.1
-
Tommerup N, Schempp W, Meinecke P et al. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPDI) to 17q24.3-q25.1. Nat Genet 1993: 4: 170-173.
-
(1993)
Nat Genet
, vol.4
, pp. 170-173
-
-
Tommerup, N.1
Schempp, W.2
Meinecke, P.3
-
35
-
-
0030948046
-
Mutation in SRY and SOX9: Testis determining genes
-
Cameron FJ, Sinclair AH. Mutation in SRY and SOX9: testis determining genes. Hum Mut 1997: 9: 388-395.
-
(1997)
Hum Mut
, vol.9
, pp. 388-395
-
-
Cameron, F.J.1
Sinclair, A.H.2
-
36
-
-
0033531956
-
Campomelic syndrome and deletion of SOX9
-
Olney PN, Kean LS, Graham D, Elsas LJ, May KM. Campomelic syndrome and deletion of SOX9. Am J Hum Genet 1999: 84 (1): 20-24.
-
(1999)
Am J Hum Genet
, vol.84
, Issue.1
, pp. 20-24
-
-
Olney, P.N.1
Kean, L.S.2
Graham, D.3
Elsas, L.J.4
May, K.M.5
-
37
-
-
0032031962
-
Interaction between SRY and SOX genes in mammalian sex determination
-
Graves JAM. Interaction between SRY and SOX genes in mammalian sex determination. Bioessays 1998: 20: 264-269.
-
(1998)
Bioessays
, vol.20
, pp. 264-269
-
-
Graves, J.A.M.1
|