-
1
-
-
0027286419
-
Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome
-
Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, et al: Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY -bearing X chromosome. C R Acad Sci III 316: 375-383 (1993). (Pubitemid 23186419)
-
(1993)
Comptes Rendus de l'Academie des Sciences - Series III
, vol.316
, Issue.4
, pp. 375-383
-
-
Abbas, N.1
McElreavey, K.2
Leconiat, M.3
Vilain, E.4
Jaubert, F.5
Berger, R.6
Nihoul-Fekete, C.7
Rappaport, R.8
Fellous, M.9
-
2
-
-
0023046892
-
Variable transfer of Y-specific sequences in XX males
-
Affara N, Ferguson-Smith M, Tolmie J, Kwok K, Mitchell M, et al: Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res 14: 5375 (1986).
-
(1986)
Nucleic Acids Res
, vol.14
, pp. 5375
-
-
Affara, N.1
Ferguson-Smith, M.2
Tolmie, J.3
Kwok, K.4
Mitchell, M.5
-
3
-
-
0025017752
-
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3
-
Al-Gazali L, Mueller R, Caine A, Antoniou A, Mc-Cartney A, et al: Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 27: 59-63 (1990).
-
(1990)
J Med Genet
, vol.27
, pp. 59-63
-
-
Al-Gazali, L.1
Mueller, R.2
Caine, A.3
Antoniou, A.4
Mc-Cartney, A.5
-
4
-
-
0023730020
-
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its y pseudogene
-
Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, et al: X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet 34: 31-37 (1988).
-
(1988)
Clin Genet
, vol.34
, pp. 31-37
-
-
Ballabio, A.1
Parenti, G.2
Carrozzo, R.3
Coppa, G.4
Felici, L.5
-
5
-
-
79551567700
-
Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development
-
Beaulieu Bergeron M, Lemyre E, Lemieux N: Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development. Sex Dev 5: 1-6 (2011).
-
(2011)
Sex Dev
, vol.5
, pp. 1-6
-
-
Beaulieu Bergeron, M.1
Lemyre, E.2
Lemieux, N.3
-
7
-
-
0018242322
-
X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies
-
Bernstein R, Wagner J, Isdale J, Nurse GT, Lane AB, Jenkins T: X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies. J Med Genet 15: 466-474 (1978). (Pubitemid 9093450)
-
(1978)
Journal of Medical Genetics
, vol.15
, Issue.6
, pp. 466-474
-
-
Bernstein, R.1
Wagner, J.2
Isdale, J.3
-
8
-
-
0019119271
-
X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism
-
Bernstein R, Pinto M, Almeida M, Solarsh S, Meck J, Jenkins T: X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism. J Med Genet 17: 437-443 (1980). (Pubitemid 11197417)
-
(1980)
Journal of Medical Genetics
, vol.17
, Issue.6
, pp. 437-443
-
-
Bernstein, R.1
Pinto, M.R.2
Almeida, M.3
-
9
-
-
77954106325
-
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH
-
Bukvic N, Carri V, Di Cosola M, Pustorino G, Cesarano C, et al: Familial X;Y translocation with distinct phenotypic consequences: characterization using FISH and array CGH. Am J Med Genet A 152A:1730-1734 (2010).
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1730-1734
-
-
Bukvic, N.1
Carri, V.2
Di Cosola, M.3
Pustorino, G.4
Cesarano, C.5
-
10
-
-
0032855778
-
X/Y translocation in a family with Leri-Weill dyschondrosteosis
-
DOI 10.1007/s004390051116
-
Calabrese G, Fischetto R, Stuppia L, Capodiferro F, Mingarelli R, et al: X/Y translocation in a family with Leri-Weill dyschondrosteosis. Hum Genet 105: 367-368 (1999). (Pubitemid 29476290)
-
(1999)
Human Genetics
, vol.105
, Issue.4
, pp. 367-368
-
-
Calabrese, G.1
Fischetto, R.2
Stuppia, L.3
Capodiferro, F.4
Mingarelli, R.5
Causio, F.6
Rocchi, M.7
Rappold, G.A.8
Palka, G.9
-
11
-
-
0034351406
-
A mutation in the 5′ non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism
-
DOI 10.1210/jc.85.5.1908
-
Canto P, de la Chesnaye E, Lopez M, Cervantes A, Chavez B, et al: A mutation in the 5 ? non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J Clin Endocrinol Metab 85: 1908-1911 (2000). (Pubitemid 32269297)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.5
, pp. 1908-1911
-
-
Canto, P.1
De La Chesnaye, E.2
Lopez, M.3
Cervantes, A.4
Chavez, B.5
Vilchis, F.6
Reyes, E.7
Ulloa-Aguirre, A.8
Kofman-Alfaro, S.9
Mendez, J.P.10
-
12
-
-
0031892938
-
Sex in the 90s: SRY and the switch to the male pathway
-
DOI 10.1146/annurev.physiol.60.1.497
-
Capel B: Sex in the 90s: SRY and the switch to the male pathway. Annu Rev Physiol 60: 497-523 (1998). (Pubitemid 28157884)
-
(1998)
Annual Review of Physiology
, vol.60
, pp. 497-523
-
-
Capel, B.1
-
13
-
-
0021686037
-
On the nature and extent of XY pairing at meiotic prophase in man
-
Chandley A, Goetz P, Hargreave T, Joseph A, Speed R: On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet 38: 241-247 (1984). (Pubitemid 15221656)
-
(1984)
Cytogenetics and Cell Genetics
, vol.38
, Issue.4
, pp. 241-247
-
-
Chandley, A.C.1
Goetz, P.2
Hargreave, T.B.3
-
14
-
-
0031051801
-
True hermaphroditism: Clinical aspects and molecular studies im 16 cases
-
Damiani D, Fellous M, McElreavey K, Barbaux S, Barreto E, et al: True hermaphroditism: clinical aspects and molecular studies in 16 cases. Eur J Endocrinol 136: 201-204 (1997). (Pubitemid 27096350)
-
(1997)
European Journal of Endocrinology
, vol.136
, Issue.2
, pp. 201-204
-
-
Damiani, D.1
Fellous, M.2
McElreavey, K.3
Barbaux, S.4
Barreto, E.S.A.5
Dichtchekenian, V.6
Setian, N.7
-
15
-
-
0347364702
-
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits
-
DOI 10.1111/j.0013-9580.2003.61702.x
-
Doherty M, Bennett C, Cotter P, Watson N, Mitchell A, et al: An Xp;Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia 44: 1529-1535 (2003). (Pubitemid 38020187)
-
(2003)
Epilepsia
, vol.44
, Issue.12
, pp. 1529-1535
-
-
Doherty, M.J.1
Glass, I.A.2
Bennett, C.L.3
Cotter, P.D.4
Watson, N.F.5
Mitchell, A.L.6
Bird, T.D.7
Farrell, D.F.8
-
16
-
-
0031899278
-
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
-
DOI 10.1007/s004390050680
-
Domenice S, Yumie Nishi M, Correia Billerbeck A, Latronico A, Aparecida Medeiros M, et al: A novel missense mutation (S18N) in the 5 ? non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. Hum Genet 102: 213-215 (1998). (Pubitemid 28185246)
-
(1998)
Human Genetics
, vol.102
, Issue.2
, pp. 213-215
-
-
Domenice, S.1
Nishi, M.Y.2
Billerbeck, A.E.C.3
Latronico, A.C.4
Medeiros, M.A.5
Russell, A.J.6
Vass, K.7
Carvalho, F.M.8
Frade, E.M.C.9
Arnhold, I.J.P.10
Mendonca, B.B.11
-
17
-
-
0034839970
-
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations
-
DOI 10.1016/S0003-3995(01)01071-1
-
Frints S, Fryns J, Lagae L, Syrrou M, Marynen P, Devriendt K: Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations. Ann Genet 44: 71-76 (2001). (Pubitemid 32825999)
-
(2001)
Annales de Genetique
, vol.44
, Issue.2
, pp. 71-76
-
-
Frints, S.G.M.1
Fryns, J.-P.2
Lagae, L.3
Syrrou, M.4
Marynen, P.5
Devriendt, K.6
-
18
-
-
0030765593
-
Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?
-
DOI 10.1097/00019605-199710000-00007
-
Guichet A, Briault S, Le Merrer M, Moraine C: Are t(X;Y)(p22;q11) translocations in females frequently associated with Madelung deformity? Clin Dysmorphol 6: 341-345 (1997). (Pubitemid 27432930)
-
(1997)
Clinical Dysmorphology
, vol.6
, Issue.4
, pp. 341-345
-
-
Guichet, A.1
Briault, S.2
Le Merrer, M.3
Moraine, Cl.4
-
19
-
-
0026906868
-
Kallmann syndrome due to a translocation resulting in an X/Y fusion gene
-
Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, et al: Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat Genet 1: 337-340 (1992).
-
(1992)
Nat Genet
, vol.1
, pp. 337-340
-
-
Guioli, S.1
Incerti, B.2
Zanaria, E.3
Bardoni, B.4
Franco, B.5
-
20
-
-
4244150370
-
True hermaphroditism
-
Adashi E, Rock J, Rosenwaks Z (eds) Lippincott Williams and Wilkins Press, Philadelphia
-
Hasty L, Rock J: True hermaphroditism, in Adashi E, Rock J, Rosenwaks Z (eds): Reproductive Endocrinology, Surgery, and Technology (Lippincott Williams and Wilkins Press, Philadelphia 1996).
-
(1996)
Reproductive Endocrinology, Surgery, and Technology
-
-
Hasty, L.1
Rock, J.2
-
21
-
-
0018875224
-
A new case of Y to X translocation in a female
-
Hecht T, Cooke H, Cerrillo M, Meer B, Reck G, Hameister H: A new case of Y to X translocation in a female. Hum Genet 54: 303-307 (1980). (Pubitemid 10090139)
-
(1980)
Human Genetics
, vol.54
, Issue.3
, pp. 303-307
-
-
Hecht, Th.1
Cooke, H.J.2
Cerrillo, M.3
-
22
-
-
28844490995
-
Engineered human dicentric chromosomes show centromere plasticity
-
DOI 10.1007/s10577-005-1009-2
-
Higgins A, Gustashaw K, Willard H: Engineered human dicentric chromosomes show centromere plasticity. Chromosome Res 13: 745-762 (2005) (Pubitemid 41768766)
-
(2005)
Chromosome Research
, vol.13
, Issue.8
, pp. 745-762
-
-
Higgins, A.W.1
Gustashaw, K.M.2
Willard, H.F.3
-
23
-
-
0025045875
-
A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary
-
Jager R, Ebensperger C, Fraccaro M, Scherer G: A ZFY -negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary. Hum Genet 85: 666-668 (1990). (Pubitemid 20364324)
-
(1990)
Human Genetics
, vol.85
, Issue.6
, pp. 666-668
-
-
Jager, R.J.1
Ebensperger, C.2
Fraccaro, M.3
Scherer, G.4
-
24
-
-
0034293038
-
Xp;Yp translocation inherited from the father in an SRY, RBM , and TSPY positive true hermaphrodite with oligozoospermia
-
Jakubowski L, Jeziorowska A, Constantinou M, Helszer Z, Baumstark A, et al: Xp;Yp translocation inherited from the father in an SRY, RBM , and TSPY positive true hermaphrodite with oligozoospermia. J Med Genet 37:E28 (2000).
-
(2000)
J Med Genet
, vol.37
-
-
Jakubowski, L.1
Jeziorowska, A.2
Constantinou, M.3
Helszer, Z.4
Baumstark, A.5
-
25
-
-
0034726729
-
Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA
-
DOI 10.1002/1096-8628(20000828)93:5<417::AID-AJMG13>3.0.CO;2-S
-
Jimenez A, Kofman-Alfaro S, Berumen J, Hernandez E, Canto P, et al: Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA. Am J Med Genet 93: 417-420 (2000). (Pubitemid 30622189)
-
(2000)
American Journal of Medical Genetics
, vol.93
, Issue.5
, pp. 417-420
-
-
Jimenez, A.L.1
Kofman-Alfaro, S.2
Berumen, J.3
Hernandez, E.4
Canto, P.5
Mendez, J.P.6
Zenteno, J.C.7
-
26
-
-
82255163834
-
Regional variations in the management of testicular or ovotesticular disorders of sex development
-
Josso N, Audi L, Shaw G: Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex Dev 5: 225-234 (2011).
-
(2011)
Sex Dev
, vol.5
, pp. 225-234
-
-
Josso, N.1
Audi, L.2
Shaw, G.3
-
27
-
-
34447311094
-
Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays
-
DOI 10.1136/jmg.2006.047852
-
Karcanias A, Ichimura K, Mitchell M, Sargent C, Affara N: Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays. J Med Genet 44: 429-436 (2007). (Pubitemid 47056868)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.7
, pp. 429-436
-
-
Karcanias, A.C.1
Ichimura, K.2
Mitchell, M.J.3
Sargent, C.A.4
Affara, N.A.5
-
28
-
-
0021159989
-
- phenotype, and some features of Turner's syndrome
-
Kelly T, Wachtel S, Cahill L, Barnabei V, Willson-Suddath K, Wyandt H: X;Y translocation in a female with streak gonads, H-Y-phenotype, and some features of Turner's syndrome. Cytogenet Cell Genet 38: 122-126 (1984). (Pubitemid 14031282)
-
(1984)
Cytogenetics and Cell Genetics
, vol.38
, Issue.2
, pp. 122-126
-
-
Kelly, T.E.1
Wachtel, S.S.2
Cahill, L.3
-
29
-
-
0031663782
-
Position effect in human genetic disease
-
DOI 10.1093/hmg/7.10.1611
-
Kleinjan D, van Heyningen V: Position effect in human genetic disease. Hum Mol Genet 7: 1611-1618 (1998). (Pubitemid 28464038)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.10
, pp. 1611-1618
-
-
Kleinjan, D.-J.1
Van Heyningen, V.2
-
30
-
-
0036859988
-
Sex-specific differences in meiotic chromosome segregation revealed by dicentric bridge resolution in mice
-
Koehler K, Millie E, Cherry J, Burgoyne P, Evans E, et al: Sex-specific differences in meiotic chromosome segregation revealed by dicentric bridge resolution in mice. Genetics 162: 1367-1379 (2002). (Pubitemid 35417526)
-
(2002)
Genetics
, vol.162
, Issue.3
, pp. 1367-1379
-
-
Koehler, K.E.1
Millie, E.A.2
Cherry, J.P.3
Burgoyne, P.S.4
Evans, E.P.5
Hunt, P.A.6
Hassold, T.J.7
-
31
-
-
0033025157
-
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome
-
Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, et al: Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J Med Genet 36: 452-456 (1999). (Pubitemid 29267743)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.6
, pp. 452-456
-
-
Kusz, K.1
Kotecki, M.2
Wojda, A.3
Szarras-Czapnik, M.4
Latos-Bielenska, A.5
Warenik-Szymankiewicz, A.6
Ruszczynska-Wolska, A.7
Jaruzelska, J.8
-
32
-
-
0347033935
-
A familial X/Y translocation: Cytogenetic and molecular study
-
Kusz K, Wojda A, Wi?niewska M, Latos-Biele?ska A, Jaruzelska J: A familial X/Y translocation: cytogenetic and molecular study. J Appl Genet 42: 237-240 (2001). (Pubitemid 33670796)
-
(2001)
Journal of Applied Genetics
, vol.42
, Issue.2
, pp. 237-240
-
-
Kusz, K.1
Wojda, A.2
Wisniewska, M.3
Latos-Bielenska, A.4
Jaruzelska, J.5
-
33
-
-
0027964346
-
X;Y translocation in a girl with short stature and some features of Turner's syndrome: Cytogenetic and molecular studies
-
Kuznetzova T, Baranov A, Ivaschenko T, Savitsky G, Lanceva O, et al: X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. J Med Genet 31: 649-651 (1994). (Pubitemid 24241416)
-
(1994)
Journal of Medical Genetics
, vol.31
, Issue.8
, pp. 649-651
-
-
Kuznetzova, T.1
Baranov, A.2
Ivaschenko, T.3
Savitsky, G.A.4
Lanceva, O.E.5
Wang, M.R.6
Giollant, M.7
Malet, P.8
Kascheeva, T.9
Vakharlovsky, V.10
Baranov, V.S.11
-
35
-
-
0034855563
-
X-Y translocations and sex differentiation
-
DOI 10.1055/s-2001-15393
-
McElreavey K, Cortes LS: X-Y translocations and sex differentiation. Semin Reprod Med 19: 133-139 (2001). (Pubitemid 32847027)
-
(2001)
Seminars in Reproductive Medicine
, vol.19
, Issue.2
, pp. 133-139
-
-
McElreavey, K.1
Cortes, L.S.2
-
36
-
-
0026793969
-
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including
-
McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, et al: A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY . Hum Genet 90: 121-125 (1992a).
-
(1992)
SRY . Hum Genet
, vol.90
, pp. 121-125
-
-
McElreavey, K.1
Rappaport, R.2
Vilain, E.3
Abbas, N.4
Richaud, F.5
-
37
-
-
0026442281
-
XY sex reversal associated with a deletion 5 ? to the SRY 'HMG box' in the testis-determining region
-
McElreavy K, Abbas N, Costa JM, Souleyreau N, Kucheria K, et al: XY sex reversal associated with a deletion 5 ? to the SRY 'HMG box' in the testis-determining region. Proc Natl Acad Sci USA 89: 11016-11020 (1992b).
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11016-11020
-
-
McElreavy, K.1
Abbas, N.2
Costa, J.M.3
Souleyreau, N.4
Kucheria, K.5
-
38
-
-
0029743045
-
Loss of sequences 3 ? to the testisdetermining gene, SRY , including the y pseudoautosomal boundary associated with partial testicular determination
-
McElreavey K, Vilain E, Barbaux S, Fuqua J, Fechner P, et al: Loss of sequences 3 ? to the testisdetermining gene, SRY , including the Y pseudoautosomal boundary associated with partial testicular determination. Proc Natl Acad Sci USA 93: 8590-8594 (1996).
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 8590-8594
-
-
McElreavey, K.1
Vilain, E.2
Barbaux, S.3
Fuqua, J.4
Fechner, P.5
-
39
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S, Dykes D, Polesky H: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215 (1988).
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
40
-
-
0029650340
-
MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome
-
Mucke J, Happle R, Theile H: MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome. Am J Med Genet 57: 117-118 (1995).
-
(1995)
Am J Med Genet
, vol.57
, pp. 117-118
-
-
Mucke, J.1
Happle, R.2
Theile, H.3
-
41
-
-
0026337739
-
PCR detection of distal Yp sequences in an XX true hermaphrodite
-
Nakagome Y, Seki S, Fukutani K, Nagafuchi S, Nakahori Y, Tamura T: PCR detection of distal Yp sequences in an XX true hermaphrodite. Am J Med Genet 41: 112-114 (1991).
-
(1991)
Am J Med Genet
, vol.41
, pp. 112-114
-
-
Nakagome, Y.1
Seki, S.2
Fukutani, K.3
Nagafuchi, S.4
Nakahori, Y.5
Tamura, T.6
-
42
-
-
0023788063
-
Familial X;Y translocation in a malformed male infant and his mother
-
Ohdo S, Yamada K, Madokoro H, Sonoda T, Kawaguchi K, Ohba K: Familial X;Y translocation in a malformed male infant and his mother. Jinrui Idengaku Zasshi 33: 377-384 (1988).
-
(1988)
Jinrui Idengaku Zasshi
, vol.33
, pp. 377-384
-
-
Ohdo, S.1
Yamada, K.2
Madokoro, H.3
Sonoda, T.4
Kawaguchi, K.5
Ohba, K.6
-
43
-
-
17044418008
-
True hermaphroditism presenting as bilateral gynecomastia in an adolescent phenotypic male
-
Ouhilal S, Turco J, Nangia A, Stotland M, Manganiello P: True hermaphroditism presenting as bilateral gynecomastia in an adolescent phenotypic male. Fertil Steril 83: 1041(2005).
-
(2005)
Fertil Steril
, vol.83
, pp. 1041
-
-
Ouhilal, S.1
Turco, J.2
Nangia, A.3
Stotland, M.4
Manganiello, P.5
-
44
-
-
0025257557
-
Comparison of human ZFY and ZFX transcripts
-
Palmer M, Berta P, Sinclair A, Pym B, Goodfellow P: Comparison of human ZFY and ZFX transcripts. Proc Natl Acad Sci USA 87: 1681-1685 (1990).
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1681-1685
-
-
Palmer, M.1
Berta, P.2
Sinclair, A.3
Pym, B.4
Goodfellow, P.5
-
45
-
-
0018868560
-
Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son
-
Pfeiffer R: Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son. Cytogenet Cell Genet 26: 150-157(1980). (Pubitemid 10097947)
-
(1980)
Cytogenetics and Cell Genetics
, vol.26
, Issue.2-4
, pp. 150-157
-
-
Pfeiffer, R.A.1
-
46
-
-
0023027515
-
Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes
-
Pinkel D, Gray J, Trask B, van den Engh G, Fuscoe J, van Dekken H: Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harb Symp Quant Biol 51 Pt 1: 151-157 (1986). (Pubitemid 17076697)
-
(1986)
Cold Spring Harbor Symposia on Quantitative Biology
, vol.51
, Issue.1
, pp. 151-157
-
-
Pinkel, D.1
Gray, J.W.2
Trask, B.3
-
47
-
-
84867141931
-
Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling
-
Portnoi M, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard M, et al: Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. Eur J Med Genet 55: 635-640 (2012).
-
(2012)
Eur J Med Genet
, vol.55
, pp. 635-640
-
-
Portnoi, M.1
Chantot-Bastaraud, S.2
Christin-Maitre, S.3
Carbonne, B.4
Beaujard, M.5
-
48
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, et al: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet 16: 54-63 (1997). (Pubitemid 27198156)
-
(1997)
Nature Genetics
, vol.16
, Issue.1
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
49
-
-
84943725763
-
Familial X-linked ichthyosis, steroid sulfatase deficiency, mental ratardation, and nullisomy for Xp223-pter
-
DOI 10.1001/archderm.121.12.1524
-
Ross J, Allderdice P, Shapiro L, Aveling J, Eales B, Simms D Jr: Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp22.3-pter. Arch Dermatol 121: 1524-1528 (1985). (Pubitemid 16202169)
-
(1985)
Archives of Dermatology
, vol.121
, Issue.12
, pp. 1524-1528
-
-
Ross, J.B.1
Allderdice, P.W.2
Shapiro, L.J.3
-
50
-
-
0022630729
-
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes
-
DOI 10.1038/319291a0
-
Rouyer F, Simmler MC, Johnsson C, Vergnaud G, Cooke H, Weissenbach J: A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319: 291-295 (1986). (Pubitemid 16212947)
-
(1986)
Nature
, vol.319
, Issue.6051
, pp. 291-295
-
-
Rouyer, F.1
Simmler, M.-C.2
Johnsson, C.3
-
51
-
-
0030828763
-
Abnormal XY interchange between a novel isolated protein kinase gene, PRKY and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females
-
DOI 10.1093/hmg/6.11.1985
-
Schiebel K, Winkelmann M, Mertz A, Xu X, Page D, et al: Abnormal XY interchange between a novel isolated protein kinase gene, PRKY , and its homologue, PRKX , accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet 6: 1985-1989 (1997). (Pubitemid 27460377)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, pp. 1985-1989
-
-
Schiebel, K.1
Winkelmann, M.2
Mertz, A.3
Xu, X.4
Page, D.C.5
Weil, D.6
Petit, C.7
Rappold, G.A.8
-
52
-
-
0015246254
-
A rapid banding technique for human chromosomes
-
Seabright M: A rapid banding technique for human chromosomes. Lancet 2: 971-972 (1971).
-
(1971)
Lancet
, vol.2
, pp. 971-972
-
-
Seabright, M.1
-
53
-
-
0035099724
-
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
-
DOI 10.1034/j.1399-0004.2001.590209.x
-
Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, et al: Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Clin Genet 59: 115-121 (2001). (Pubitemid 32220025)
-
(2001)
Clinical Genetics
, vol.59
, Issue.2
, pp. 115-121
-
-
Seidel, J.1
Schiller, S.2
Kelbova, C.3
Beensen, V.4
Orth, U.5
Vogt, S.6
Claussen, U.7
Zintl, F.8
Rappold, G.A.9
-
55
-
-
17844370241
-
Clinical case seminar: Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome
-
DOI 10.1210/jc.2004-1110
-
Shahid M, Dhillon V, Aslam M, Husain S: Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome. J Clin Endocrinol Metab 90: 2429-2435 (2005). (Pubitemid 40586295)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.4
, pp. 2429-2435
-
-
Shahid, M.1
Dhillon, V.S.2
Aslam, M.3
Husain, S.A.4
-
56
-
-
0034811136
-
Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation
-
DOI 10.1007/s004390100578
-
Sharp A, Robinson D, Jacobs P: Absence of correlation between late-replication and spreading of X inactivation in an X; autosome translocation. Hum Genet 109: 295-302 (2001). (Pubitemid 32926924)
-
(2001)
Human Genetics
, vol.109
, Issue.3
, pp. 295-302
-
-
Sharp, A.1
Robinson, D.O.2
Jacobs, P.3
-
57
-
-
2942701912
-
Familial X/Y translocations associated with variable sexual phenotype
-
Sharp A, Kusz K, Jaruzelska J, Szarras-Czapnik M, Wolski J, Jacobs P: Familial X/Y translocations associated with variable sexual phenotype. J Med Genet 41: 440-444 (2004). (Pubitemid 38788039)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.6
, pp. 440-444
-
-
Sharp, A.1
Kusz, K.2
Jaruzelska, J.3
Szarras-Czapnik, M.4
Wolski, J.5
Jacobs, P.6
-
58
-
-
18844411825
-
Variability of sexual phenotype in 46,XX(SRY+) patients: The influence of spreading X inactivation versus position effects
-
DOI 10.1136/jmg.2004.022053
-
Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, et al: Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects. J Med Genet 42: 420-427 (2005). (Pubitemid 40685684)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.5
, pp. 420-427
-
-
Sharp, A.1
Kusz, K.2
Jaruzelska, J.3
Tapper, W.4
Szarras-Czapnik, M.5
Wolski, J.6
Jacobs, P.7
-
59
-
-
69749097032
-
Disorders of the gonads, genital tract and genitalia
-
Rimoin D, Michael Connor J, Pyeritz R, Korf B (eds) Ed 5. (Churchill Livingstone Elsevier Press, Philadelphia
-
Simpson JL: Disorders of the gonads, genital tract and genitalia, in Rimoin D, Michael Connor J, Pyeritz R, Korf B (eds): Emery and Rimoin's Principles and Practice of Medical Genetics, ed 5. (Churchill Livingstone Elsevier Press, Philadelphia 2007).
-
(2007)
Emery and Rimoin's Principles and Practice of Medical Genetics
-
-
Simpson, J.L.1
-
60
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
Sinclair A, Berta P, Palmer M, Hawkins J, Griffiths B, et al: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240-244 (1990).
-
(1990)
Nature
, vol.346
, pp. 240-244
-
-
Sinclair, A.1
Berta, P.2
Palmer, M.3
Hawkins, J.4
Griffiths, B.5
-
61
-
-
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 P, Cordum H, Hillier L, et al: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837 (2003). (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..
-
63
-
-
0021795677
-
Detection at amniocentesis of a maternally inherited X;Y translocation
-
Speevak M, Clifford B, Cox D, Hunter A: Detection at amniocentesis of a maternally inherited X;Y translocation. Clin Genet 27: 595-599 (1985). (Pubitemid 15067903)
-
(1985)
Clinical Genetics
, vol.27
, Issue.6
, pp. 595-599
-
-
Speevak, M.1
Clifford, B.2
Cox, D.M.3
Hunter, A.G.W.4
-
64
-
-
0032847053
-
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
-
Stuppia L, Calabrese G, Borrelli P, Gatta V, Morizio E, et al: Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. J Med Genet 36: 711-713 (1999). (Pubitemid 29433733)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.9
, pp. 711-713
-
-
Stuppia, L.1
Calabrese, G.2
Borrelli, P.3
Gatta, V.4
Morizio, E.5
Mingarelli, R.6
Di Gilio, M.C.7
Crino, A.8
Giannotti, A.9
Rappold, G.A.10
Palka, G.11
-
65
-
-
0031767665
-
Stable dicentric X chromosomes with two functional centromeres [1]
-
DOI 10.1038/3024
-
Sullivan B, Willard H: Stable dicentric X chromosomes with two functional centromeres. Nat Genet 20: 227-228 (1998). (Pubitemid 28507662)
-
(1998)
Nature Genetics
, vol.20
, Issue.3
, pp. 227-228
-
-
Sullivan, B.A.1
Willard, H.F.2
-
66
-
-
0002438456
-
Growth and physique studies
-
Weiner J, Lourie J (eds) Blackwell Scientific Publications, Oxford
-
Tanner J, Hiernaux J, Jarman S: Growth and physique studies, in Weiner J, Lourie J (eds): Human Biology. A Guide to Field Methods. IBP Handbook No. 9 (Blackwell Scientific Publications, Oxford 1969).
-
(1969)
: Human Biology. A Guide to Field Methods. IBP Handbook
, Issue.9
-
-
Tanner, J.1
Hiernaux, J.2
Jarman, S.3
-
68
-
-
0027161001
-
Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
-
DOI 10.1038/ng0793-268
-
Watanabe M, Zinn A, Page D, Nishimoto T: Functional equivalence of human X-and Yencoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet 4: 268-271 (1993). (Pubitemid 23205175)
-
(1993)
Nature Genetics
, vol.4
, Issue.3
, pp. 268-271
-
-
Watanabe, M.1
Zinn, A.R.2
Page, D.C.3
Nishimoto, T.4
-
69
-
-
0027375457
-
A 45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
-
Weil D, Portnoi M, Levilliers J, Wang I, Mathieu M, et al: 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet 2: 1853-1856 (1993). (Pubitemid 23326611)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.11
, pp. 1853-1856
-
-
Weil, D.1
Portnoi, M.-F.2
Levilliers, J.3
Wang, I.4
Mathieu, M.5
Taillemite, J.-L.6
Meier, M.7
Boudailliez, B.8
Petit, C.9
-
70
-
-
0023546804
-
Normal and abnormal interchanges between the human X and Y chromosomes
-
Weissenbach J, Levilliers J, Petit C, Rouyer F, Simmler M: Normal and abnormal interchanges between the human X and Y chromosomes. Development 101 Suppl:67-74 (1987). (Pubitemid 18044522)
-
(1987)
Development
, vol.101
, Issue.SUPPL.
, pp. 67-74
-
-
Weissenbach, J.1
Levilliers, J.2
Petit, C.3
Rouyer, F.4
Simmler, M.-C.5
-
71
-
-
0020084308
-
Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers
-
Yamada K, Nanko S, Hattori S, Isurugi K: Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers. Hum Genet 60: 85-90 (1982). (Pubitemid 12188341)
-
(1982)
Human Genetics
, vol.60
, Issue.1
, pp. 85-90
-
-
Yamada, K.1
Nanko, S.2
Hattori, S.3
Isurugi, K.4
-
72
-
-
0026055785
-
X/Y translocations resulting from recombination between homologous sequences on Xp and Yq
-
Yen P, Tsai S, Wenger S, Steele M, Mohandas T, Shapiro L: X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc Natl Acad Sci USA 88: 8944-8948 (1991). (Pubitemid 21915546)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.20
, pp. 8944-8948
-
-
Yen, P.H.1
Tsai, S.-P.2
Wenger, S.L.3
Steele, M.W.4
Mohandas, T.K.5
Shapiro, L.J.6
-
73
-
-
0020036794
-
The role of Yp in sex determination: New evidence from X/Y translocations
-
DOI 10.1002/ajmg.1320120207
-
Zuffardi O, Maraschio P, Lo Curto F, Muller U, Giarola A, Perotti L: The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet 12: 175-184 (1982). (Pubitemid 12124403)
-
(1982)
American Journal of Medical Genetics
, vol.12
, Issue.2
, pp. 175-184
-
-
Zuffardi, O.1
Maraschio, P.2
Lo Curto, F.3
|