-
1
-
-
0018145013
-
Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12→q14)
-
[Title translation:
-
Walbaum R, François P, Farriaux J-P, Woillez M. Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12→q14). [Title translation: Hum Genet. 44:1978;219-226.
-
(1978)
Hum Genet
, vol.44
, pp. 219-226
-
-
Walbaum, R.1
François, P.2
Farriaux, J.-P.3
Woillez, M.4
-
2
-
-
0004243595
-
-
[Title translation: New York: Academic Press
-
[Title translation: Hamerton J. Human Cytogenetics. 2:1971;Academic Press, New York.
-
(1971)
Human Cytogenetics
, vol.2
-
-
Hamerton, J.1
-
3
-
-
0003455528
-
-
Ashburner M. Cold Spring Harbor, NY: Cold Spring Harbor Press
-
Ashburner M. Drosophila, a laboratory handbook. 1989;Cold Spring Harbor Press, Cold Spring Harbor, NY.
-
(1989)
Drosophila, a Laboratory Handbook
-
-
-
4
-
-
0000834094
-
The origin of variations in sexual and sex-limited characters
-
Bridges C. The origin of variations in sexual and sex-limited characters. Am Naturalist. 56:1922;51-63.
-
(1922)
Am Naturalist
, vol.56
, pp. 51-63
-
-
Bridges, C.1
-
5
-
-
0028058986
-
Human haploinsufficiency - One for sorrow, two for joy
-
Fisher E, Scambler P. Human haploinsufficiency - one for sorrow, two for joy. Nat Genet. 7:1994;5-7.
-
(1994)
Nat Genet
, vol.7
, pp. 5-7
-
-
Fisher, E.1
Scambler, P.2
-
6
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
-
Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet. 95:1995;607-629.
-
(1995)
Hum Genet
, vol.95
, pp. 607-629
-
-
Ogata, T.1
Matsuo, N.2
-
7
-
-
0024146895
-
Mechanisms of the effects of aneuploidy in mammals
-
Epstein CJ. Mechanisms of the effects of aneuploidy in mammals. Annu Rev Genet. 22:1988;51-75.
-
(1988)
Annu Rev Genet
, vol.22
, pp. 51-75
-
-
Epstein, C.J.1
-
8
-
-
0031036182
-
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
-
of special interest. Report of a 46,XX girl with X-linked Duchenne muscular dystrophy caused by a homozygous DMD deletion resulting from maternal isodisomy for the entire X chromosome. The girl had no stigmata of Turner syndrome or other phenotypic abnormalities apart from muscular dystrophy, arguing against maternal X chromosome imprinting effects.
-
Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. of special interest Am J Hum Genet. 60:1997;160-165 Report of a 46,XX girl with X-linked Duchenne muscular dystrophy caused by a homozygous DMD deletion resulting from maternal isodisomy for the entire X chromosome. The girl had no stigmata of Turner syndrome or other phenotypic abnormalities apart from muscular dystrophy, arguing against maternal X chromosome imprinting effects.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 160-165
-
-
Quan, F.1
Janas, J.2
Toth-Fejel, S.3
Johnson, D.B.4
Wolford, J.K.5
Popovich, B.W.6
-
9
-
-
0027475040
-
Turner syndrome - The case of the missing sex chromosome
-
Zinn AR, Page DC, Fisher EMC. Turner syndrome - the case of the missing sex chromosome. Trends Genet. 9:1993;90-93.
-
(1993)
Trends Genet
, vol.9
, pp. 90-93
-
-
Zinn, A.R.1
Page, D.C.2
Fisher, E.M.C.3
-
10
-
-
0030725069
-
Functional coherence of the human Y chromosome
-
of outstanding interest. A tour de force using the technique of direct selection to systematically identify human Y-specific genes yielded 12 novel genes or families. Five of these had closely related X-linked homologs that all escaped X-inactivation, providing a new set of candidate Turner syndrome genes. Like the previously identified ZFX/ZFY and RPS4X/RPS4Y genes, the five new X-Y genes are all ubiquitously transcribed and probably encode housekeeping genes. Unfortunately, none of the Y-linked homologs maps to distal Yp, the region most likely to contain the elusive Turner syndrome lymphedema gene. The authors suggest that haploinsufficiency of housekeeping genes may cause the poor viability of 45,X embryos. The seven new Y-linked genes without X homologs were all testis-specific and may function in spermatogenesis.
-
Lahn B, Page D. Functional coherence of the human Y chromosome. of outstanding interest Science. 278:1997;675-680 A tour de force using the technique of direct selection to systematically identify human Y-specific genes yielded 12 novel genes or families. Five of these had closely related X-linked homologs that all escaped X-inactivation, providing a new set of candidate Turner syndrome genes. Like the previously identified ZFX/ZFY and RPS4X/RPS4Y genes, the five new X-Y genes are all ubiquitously transcribed and probably encode housekeeping genes. Unfortunately, none of the Y-linked homologs maps to distal Yp, the region most likely to contain the elusive Turner syndrome lymphedema gene. The authors suggest that haploinsufficiency of housekeeping genes may cause the poor viability of 45,X embryos. The seven new Y-linked genes without X homologs were all testis-specific and may function in spermatogenesis.
-
(1997)
Science
, vol.278
, pp. 675-680
-
-
Lahn, B.1
Page, D.2
-
11
-
-
0029126650
-
Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: Further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
-
Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, Yokoya S. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J Med Genet. 32:1995;831-834.
-
(1995)
J Med Genet
, vol.32
, pp. 831-834
-
-
Ogata, T.1
Yoshizawa, A.2
Muroya, K.3
Matsuo, N.4
Fukushima, Y.5
Rappold, G.6
Yokoya, S.7
-
12
-
-
0029845509
-
Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22-Yq11 translocation
-
Joseph M, Cantu ES, Pai GS, Willi SM, Papenhausen PR, Weiss L. Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22-Yq11 translocation. J Med Genet. 33:1996;906-911.
-
(1996)
J Med Genet
, vol.33
, pp. 906-911
-
-
Joseph, M.1
Cantu, E.S.2
Pai, G.S.3
Willi, S.M.4
Papenhausen, P.R.5
Weiss, L.6
-
13
-
-
0029979534
-
Short stature in a mother and daughter with terminal deletion of Xp22.3
-
Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U, Gal A. Short stature in a mother and daughter with terminal deletion of Xp22.3. Am J Med Genet. 63:1996;239-242.
-
(1996)
Am J Med Genet
, vol.63
, pp. 239-242
-
-
Schwinger, E.1
Kirschstein, M.2
Greiwe, M.3
Konermann, T.4
Orth, U.5
Gal, A.6
-
14
-
-
0030926667
-
Molecular studies of an X-Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
-
of special interest. Normal height in an XY female with a deletion of one copy of the pseudoautosomal region suggests that Y-linked growth promoting gene(s) (GCY) may compensate for SHOX/PHOG haploinsufficiency. An alternative explanation is variable penetrance.
-
Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA. Molecular studies of an X-Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height. of special interest Clin Genet. 51:1997;346-350 Normal height in an XY female with a deletion of one copy of the pseudoautosomal region suggests that Y-linked growth promoting gene(s) (GCY) may compensate for SHOX/PHOG haploinsufficiency. An alternative explanation is variable penetrance.
-
(1997)
Clin Genet
, vol.51
, pp. 346-350
-
-
Spranger, S.1
Kirsch, S.2
Mertz, A.3
Schiebel, K.4
Tariverdian, G.5
Rappold, G.A.6
-
15
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and turner-syndrome
-
of outstanding interest. See annotation [16].
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Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and turner-syndrome. of outstanding interest Nat Genet. 16:1997;54-63 See annotation [16].
-
(1997)
Nat Genet
, vol.16
, 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
-
16
-
-
0030877094
-
PHOG, a candidate gene for involvement in the short stature of Turner syndrome
-
of outstanding interest. Elegant positional cloning of a candidate Turner syndrome short stature gene, SHOX/PHOG. Both groups [15,16] used exon trapping to isolate coding sequences from the pseudoautosomal short stature critical region, which Rao et al. [15] narrowed to 170 kb. The gene they found encodes a homeodomain transcription factor with greatest expression in osteogenic cells, making a strong circumstantial case for its involvement in linear growth. Rao et al., also found a point mutation cosegregating with short stature in an otherwise normal family.
-
Ellison J, Wardak Z, Young M, Robey P, Laigwebster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. of outstanding interest Hum Mol Genet. 6:1997;1341-1347 Elegant positional cloning of a candidate Turner syndrome short stature gene, SHOX/PHOG. Both groups [15,16] used exon trapping to isolate coding sequences from the pseudoautosomal short stature critical region, which Rao et al. [15] narrowed to 170 kb. The gene they found encodes a homeodomain transcription factor with greatest expression in osteogenic cells, making a strong circumstantial case for its involvement in linear growth. Rao et al., also found a point mutation cosegregating with short stature in an otherwise normal family.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1341-1347
-
-
Ellison, J.1
Wardak, Z.2
Young, M.3
Robey, P.4
Laigwebster, M.5
Chiong, W.6
-
17
-
-
84984767030
-
Growing interest in Turner syndrome
-
Zinn AR. Growing interest in Turner syndrome. Nat Genet. 16:1997;3-4.
-
(1997)
Nat Genet
, vol.16
, pp. 3-4
-
-
Zinn, A.R.1
-
18
-
-
0023663890
-
The sex-determining region of the human Y chromosome encodes a finger protein
-
Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G, Pollack J, McGillivray B, de la Chapelle A, Brown LG. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 51:1987;1091-1104.
-
(1987)
Cell
, vol.51
, pp. 1091-1104
-
-
Page, D.C.1
Mosher, R.2
Simpson, E.M.3
Fisher, E.M.4
Mardon, G.5
Pollack, J.6
McGillivray, B.7
De La Chapelle, A.8
Brown, L.G.9
-
19
-
-
0025283641
-
Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female
-
Page DC, Fisher EM, McGillivray B, Brown LG. Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature. 346:1990;279-281.
-
(1990)
Nature
, vol.346
, pp. 279-281
-
-
Page, D.C.1
Fisher, E.M.2
McGillivray, B.3
Brown, L.G.4
-
21
-
-
0030806302
-
Zfx mutation results in small animal size and reduced germ cell number in male and female mice
-
of outstanding interest. Ever since the demise of ZFY as the testis-determining factor, the function of the ZFX/ZFY genes has been enigmatic. Arguments have been made for and against a role for these genes in Turner syndrome. To address these issues, Luoh et al. knocked out the mouse Zfx gene. The phenotype was reduced viability, growth failure, and reduced numbers of primordial and adult germ cells in mutant mice of both sexes. The pathophysiology of observed defects was unclear. Homozygous females were more severely affected than heterozygotes. Although the authors point out the ovarian histology of their knockout mice resembles that of girls with Turner syndrome, it remains to be seen whether Zfx mutant mice show accelerated oocyte atresia during midgestation as occurs in 45,X humans. The findings nevertheless support the involvement of ZFX/ZFY haploinsufficiency in the viability, growth, or gonadal phenotypes of Turner syndrome.
-
Luoh SW, Bain PA, Polakiewicz RD, Goodheart ML, Gardner H, Jaenisch R, Page DC. Zfx mutation results in small animal size and reduced germ cell number in male and female mice. of outstanding interest Development. 124:1997;2275-2284 Ever since the demise of ZFY as the testis-determining factor, the function of the ZFX/ZFY genes has been enigmatic. Arguments have been made for and against a role for these genes in Turner syndrome. To address these issues, Luoh et al. knocked out the mouse Zfx gene. The phenotype was reduced viability, growth failure, and reduced numbers of primordial and adult germ cells in mutant mice of both sexes. The pathophysiology of observed defects was unclear. Homozygous females were more severely affected than heterozygotes. Although the authors point out the ovarian histology of their knockout mice resembles that of girls with Turner syndrome, it remains to be seen whether Zfx mutant mice show accelerated oocyte atresia during midgestation as occurs in 45,X humans. The findings nevertheless support the involvement of ZFX/ZFY haploinsufficiency in the viability, growth, or gonadal phenotypes of Turner syndrome.
-
(1997)
Development
, vol.124
, pp. 2275-2284
-
-
Luoh, S.W.1
Bain, P.A.2
Polakiewicz, R.D.3
Goodheart, M.L.4
Gardner, H.5
Jaenisch, R.6
Page, D.C.7
-
22
-
-
0029930189
-
Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
-
Report of a 46,XY boy with striking Turner-like abnormalities, including short stature, aortic coarctation, renal hypoplasia, webbed neck, and hypoplastic nails. The authors propose that mutation of a putative Turner syndrome 'lymphedema' gene could explain the constellation of abnormalities in this patient but they failed to find any Y chromosomal deletions or gross rearrangements of the ZFX or ZFY genes.
-
Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Nakahori Y, Matsuo N. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Genet. 97:1996;564-567 Report of a 46,XY boy with striking Turner-like abnormalities, including short stature, aortic coarctation, renal hypoplasia, webbed neck, and hypoplastic nails. The authors propose that mutation of a putative Turner syndrome 'lymphedema' gene could explain the constellation of abnormalities in this patient but they failed to find any Y chromosomal deletions or gross rearrangements of the ZFX or ZFY genes.
-
(1996)
Hum Genet
, vol.97
, pp. 564-567
-
-
Hasegawa, T.1
Ogata, T.2
Hasegawa, Y.3
Honda, M.4
Nagai, T.5
Fukushima, Y.6
Nakahori, Y.7
Matsuo, N.8
-
23
-
-
0029994366
-
Turner syndrome: A study of chromosomal mosaicism
-
of special interest
-
of special interest Fernandez R, Mendez J, Pasaro E. Turner syndrome: a study of chromosomal mosaicism. Hum Genet. 98:1996;29-35.
-
(1996)
Hum Genet
, vol.98
, pp. 29-35
-
-
Fernandez, R.1
Mendez, J.2
Pasaro, E.3
-
24
-
-
0031060622
-
PCR-based detection of mosaicism in Turner syndrome patients
-
Yorifuji T, Muroi J, Kawai M, Sasaki H, Momoi T, Furusho K. PCR-based detection of mosaicism in Turner syndrome patients. Hum Genet. 99:1997;62-65.
-
(1997)
Hum Genet
, vol.99
, pp. 62-65
-
-
Yorifuji, T.1
Muroi, J.2
Kawai, M.3
Sasaki, H.4
Momoi, T.5
Furusho, K.6
-
25
-
-
0026800855
-
Molecular studies of parental origin and mosaicism in 45,X conceptuses
-
Hassold T, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum Genet. 89:1992;647-652.
-
(1992)
Hum Genet
, vol.89
, pp. 647-652
-
-
Hassold, T.1
Pettay, D.2
Robinson, A.3
Uchida, I.4
-
26
-
-
0026531326
-
Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
-
Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet. 88:1992;288-294.
-
(1992)
Hum Genet
, vol.88
, pp. 288-294
-
-
Held, K.R.1
Kerber, S.2
Kaminsky, E.3
Singh, S.4
Goetz, P.5
Seemanova, E.6
Goedde, H.W.7
-
27
-
-
0029112672
-
A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome
-
Erickson RP, Hudgins L, Stone JF, Schmidt S, Wilke C, Glover TW. A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome. Cytogenet Cell Genet. 71:1995;163-167.
-
(1995)
Cytogenet Cell Genet
, vol.71
, pp. 163-167
-
-
Erickson, R.P.1
Hudgins, L.2
Stone, J.F.3
Schmidt, S.4
Wilke, C.5
Glover, T.W.6
-
28
-
-
0025633118
-
Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
-
Fisher EM, Beer RP, Brown LG, Ridley A, McNeil JA, Lawrence JB, Willard HF, Bieber FR, Page DC. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell. 63:1990;1205-1218.
-
(1990)
Cell
, vol.63
, pp. 1205-1218
-
-
Fisher, E.M.1
Beer, R.P.2
Brown, L.G.3
Ridley, A.4
McNeil, J.A.5
Lawrence, J.B.6
Willard, H.F.7
Bieber, F.R.8
Page, D.C.9
-
29
-
-
0029121963
-
Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata
-
Barbaux S, Vilain E, Raoul O, Gilgenkrantz S, Jeandidier E, Chadenas D, Souleyreau N, Fellous M, McElreavey K. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. Hum Mol Genet. 4:1995;1565-1568.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1565-1568
-
-
Barbaux, S.1
Vilain, E.2
Raoul, O.3
Gilgenkrantz, S.4
Jeandidier, E.5
Chadenas, D.6
Souleyreau, N.7
Fellous, M.8
McElreavey, K.9
-
30
-
-
0029876356
-
The phenotype of a 45,X male with a Y/18 translocation
-
Gimelli G, Cinti R, Varone P, Naselli A, Dibattista E, Pezzolo A. The phenotype of a 45,X male with a Y/18 translocation. Clin Genet. 49:1996;37-41.
-
(1996)
Clin Genet
, vol.49
, pp. 37-41
-
-
Gimelli, G.1
Cinti, R.2
Varone, P.3
Naselli, A.4
Dibattista, E.5
Pezzolo, A.6
-
31
-
-
0025881630
-
X-chromosome inactivation may explain the difference in viability of XO humans and mice
-
Ashworth A, Rastan S, Lovell-Badge R, Kay G. X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature. 351:1991;406-408.
-
(1991)
Nature
, vol.351
, pp. 406-408
-
-
Ashworth, A.1
Rastan, S.2
Lovell-Badge, R.3
Kay, G.4
-
32
-
-
0026342521
-
Inactivation of the Rps4 gene on the mouse X chromosome
-
Zinn AR, Bressler SL, Beer-Romero P, Adler DA, Chapman VM, Page DC, Disteche CM. Inactivation of the Rps4 gene on the mouse X chromosome. Genomics. 11:1991;1097-1101.
-
(1991)
Genomics
, vol.11
, pp. 1097-1101
-
-
Zinn, A.R.1
Bressler, S.L.2
Beer-Romero, P.3
Adler, D.A.4
Chapman, V.M.5
Page, D.C.6
Disteche, C.M.7
-
33
-
-
0027161001
-
Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
-
Watanabe M, Zinn AR, Page DC, Nishimoto T. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet. 4:1993;268-271.
-
(1993)
Nat Genet
, vol.4
, pp. 268-271
-
-
Watanabe, M.1
Zinn, A.R.2
Page, D.C.3
Nishimoto, T.4
-
34
-
-
0028231417
-
Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes
-
Zinn AR, Alagappan RK, Brown LG, Wool I, Page DC. Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes. Mol Cell Biol. 14:1994;2485-2492.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 2485-2492
-
-
Zinn, A.R.1
Alagappan, R.K.2
Brown, L.G.3
Wool, I.4
Page, D.C.5
-
35
-
-
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 MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C. 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. Hum Mol Genet. 2:1993;1853-1856.
-
(1993)
Hum Mol Genet
, vol.2
, 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
-
36
-
-
0026499499
-
Absence of Turner stigmata in a 46,XYp- female
-
Myller U, Kirkels V, Scheres J. Absence of Turner stigmata in a 46,XYp- female. Hum Genet. 90:1992;239-242.
-
(1992)
Hum Genet
, vol.90
, pp. 239-242
-
-
Myller, U.1
Kirkels, V.2
Scheres, J.3
-
37
-
-
0030048226
-
Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X
-
of special interest. Quantitative studies of RPS4X expression in four Turner syndrome subjects with isochromosomes (karyotype 46,X,i(Xq)). Isochromosomes represent a short arm deletion and long arm duplication, resulting in three copies of the RPS4X gene per cell. The authors tried to exclude mosaicism, a particular problem with isochromosomes, by examining at least 30 metaphases in two tissues. Expression of RPS4X RNA was increased by approximately ≈50% in isochromosome patients' fibroblasts as compared to 46,XX controls, concordant with the increase in gene dosage. The authors concluded that haploinsufficiency of RPS4X cannot account for the Turner syndrome features seen in these patients - which included short stature, gonadal failure, and typical anatomic abnormalities. They did not address the possible role of S4 haploinsufficiency in the poor viability associated with the 45,X karyotype.
-
Geerkens C, Just W, Held KR, Vogel W. Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X. of special interest Hum Genet. 97:1996;39-44 Quantitative studies of RPS4X expression in four Turner syndrome subjects with isochromosomes (karyotype 46,X,i(Xq)). Isochromosomes represent a short arm deletion and long arm duplication, resulting in three copies of the RPS4X gene per cell. The authors tried to exclude mosaicism, a particular problem with isochromosomes, by examining at least 30 metaphases in two tissues. Expression of RPS4X RNA was increased by approximately ≈50% in isochromosome patients' fibroblasts as compared to 46,XX controls, concordant with the increase in gene dosage. The authors concluded that haploinsufficiency of RPS4X cannot account for the Turner syndrome features seen in these patients - which included short stature, gonadal failure, and typical anatomic abnormalities. They did not address the possible role of S4 haploinsufficiency in the poor viability associated with the 45,X karyotype.
-
(1996)
Hum Genet
, vol.97
, pp. 39-44
-
-
Geerkens, C.1
Just, W.2
Held, K.R.3
Vogel, W.4
-
38
-
-
0030023276
-
Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: A molecular evolutionary analysis of Rps4 homologs
-
of special interest. 'Noah's Ark' blots [18] of human, monkey, mouse, cat, dog, horse, pig, and cow DNA molecules showed clear evidence for Y-linked RPS4 homologs only in primates. The experiments were hampered by the presence of numerous pseudogenes. Y-homologous sequences could be amplified by RT-PCR only from human and monkey RNA, consistent with the absence of functional Y homologs in other species. RPS4 transcripts from various species were sequenced and the data used for phylogenetic analysis. The results suggested that X- and Y-linked S4 homologs began diverging prior to the radiation of placental mammals and evolved independently, with RPS4X under greater functional constraint than RPS4Y. These evolutionary data contrast with the results of Watanabe et al. [33] and Zinn et al. [34] that human RPS4Y is incorporated into ribosomes in vivo and functions interchangeably with RPS4X in cultured cells.
-
Omoe K, Endo A. Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs. of special interest Genomics. 31:1996;44-50 'Noah's Ark' blots [18] of human, monkey, mouse, cat, dog, horse, pig, and cow DNA molecules showed clear evidence for Y-linked RPS4 homologs only in primates. The experiments were hampered by the presence of numerous pseudogenes. Y-homologous sequences could be amplified by RT-PCR only from human and monkey RNA, consistent with the absence of functional Y homologs in other species. RPS4 transcripts from various species were sequenced and the data used for phylogenetic analysis. The results suggested that X- and Y-linked S4 homologs began diverging prior to the radiation of placental mammals and evolved independently, with RPS4X under greater functional constraint than RPS4Y. These evolutionary data contrast with the results of Watanabe et al. [33] and Zinn et al. [34] that human RPS4Y is incorporated into ribosomes in vivo and functions interchangeably with RPS4X in cultured cells.
-
(1996)
Genomics
, vol.31
, pp. 44-50
-
-
Omoe, K.1
Endo, A.2
-
39
-
-
0030769829
-
Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile
-
Ross JL, Kushner H, Zinn AR. Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile. Am J Med Genet. 72:1997;275-280.
-
(1997)
Am J Med Genet
, vol.72
, pp. 275-280
-
-
Ross, J.L.1
Kushner, H.2
Zinn, A.R.3
-
40
-
-
16944366964
-
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
-
of outstanding interest. See annotation [41].
-
Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. of outstanding interest Nature. 387:1997;705-708 See annotation [41].
-
(1997)
Nature
, vol.387
, pp. 705-708
-
-
Skuse, D.H.1
James, R.S.2
Bishop, D.V.3
Coppin, B.4
Dalton, P.5
Aamodt-Leeper, G.6
Bacarese-Hamilton, M.7
Creswell, C.8
McGurk, R.9
Jacobs, P.A.10
-
41
-
-
0031565566
-
Human genetics. A father's imprint on his daughter's thinking
-
McGuffin P, Scourfield J. Human genetics. A father's imprint on his daughter's thinking. Nature. 387:1997;652-653.
-
(1997)
Nature
, vol.387
, pp. 652-653
-
-
McGuffin, P.1
Scourfield, J.2
-
42
-
-
34547385834
-
Not everything is in the genes
-
Anonymous
-
Anonymous Not everything is in the genes. Nature. 387:1997;743.
-
(1997)
Nature
, vol.387
, pp. 743
-
-
-
43
-
-
0029927836
-
Self-concept and behavior in adolescent girls with Turner syndrome: Potential estrogen effects
-
Ross JL, McCauley E, Roeltgen D, Long L, Kushner H, Feuillan P, Cutler GB Jr. Self-concept and behavior in adolescent girls with Turner syndrome: potential estrogen effects. J Clin Endocrinol Metab. 81:1996;926-931.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 926-931
-
-
Ross, J.L.1
McCauley, E.2
Roeltgen, D.3
Long, L.4
Kushner, H.5
Feuillan, P.6
Cutler G.B., Jr.7
-
44
-
-
0031473799
-
Mosaicism in Turner's syndrome
-
of special interest. See annotation [45].
-
Henn W, Zang KD. Mosaicism in Turner's syndrome. of special interest Nature. 390:1997;569 See annotation [45].
-
(1997)
Nature
, vol.390
, pp. 569
-
-
Henn, W.1
Zang, K.D.2
-
45
-
-
85033243925
-
Mosaicism in Turner's syndrome
-
of outstanding interest. Henn and Zang [44] propose that cryptic Y chromosome mosaicism instead of imprinting may explain the findings of Skuse et al. [40], who reply here [45] that additional molecular studies did not reveal such mosaicism.
-
Skuse D, Jacobs P. Mosaicism in Turner's syndrome. of outstanding interest Nature. 390:1997;569 Henn and Zang [44] propose that cryptic Y chromosome mosaicism instead of imprinting may explain the findings of Skuse et al. [40], who reply here [45] that additional molecular studies did not reveal such mosaicism.
-
(1997)
Nature
, vol.390
, pp. 569
-
-
Skuse, D.1
Jacobs, P.2
-
46
-
-
17344363774
-
SHOX mutations in dyscondrosteosis (Leri-Weill syndrome)
-
of special interest
-
of special interest Belin V, Cusin V, Viot G, Girlich D, Toutain A, Monela A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. SHOX mutations in dyscondrosteosis (Leri-Weill syndrome). Nat Genet. 19:1998;67-69.
-
(1998)
Nat Genet
, vol.19
, pp. 67-69
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
Girlich, D.4
Toutain, A.5
Monela, A.6
Vekemans, M.7
Le Merrer, M.8
Munnich, A.9
Cormier-Daire, V.10
-
47
-
-
0031747158
-
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyscondrosteosis
-
Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyscondrosteosis. Nat Genet. 19:1998;70-73.
-
(1998)
Nat Genet
, vol.19
, pp. 70-73
-
-
Shears, D.J.1
Vassal, H.J.2
Goodman, F.R.3
Palmer, R.W.4
Reardon, W.5
Superti-Furga, A.6
Scambler, P.J.7
Winter, R.M.8
-
48
-
-
0032478120
-
SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development
-
Blaschke RJ, Monaghan AP, Schiller S, Schechinger B, Rao E, Padilla-Nash H, Ried T, Rappold GA. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development. Proc Natl Acad Sci USA. 95:1998;2406-2411.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2406-2411
-
-
Blaschke, R.J.1
Monaghan, A.P.2
Schiller, S.3
Schechinger, B.4
Rao, E.5
Padilla-Nash, H.6
Ried, T.7
Rappold, G.A.8
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