-
1
-
-
0025017752
-
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3
-
Al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. (1990) 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)
J Med Genet
, vol.27
, pp. 59-63
-
-
Al-Gazali, L.I.1
Mueller, R.F.2
Caine, A.3
Antoniou, A.4
McCartney, A.5
Fitchett, M.6
Dennis, N.R.7
-
2
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human Androgen Receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human Androgen Receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
3
-
-
0026895136
-
Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
-
Ballabio A, Andria G (1992) Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet 1:221-227
-
(1992)
Hum Mol Genet
, vol.1
, pp. 221-227
-
-
Ballabio, A.1
Andria, G.2
-
4
-
-
0017287222
-
Karyotyp-Phenotyp-Korrelation bei einem 46,Xdel(X)(p22)-Befund
-
Bartsch-Sandhoff M, Terinde R, Wiegelmann W, Scholz W (1976) Karyotyp-Phenotyp-Korrelation bei einem 46,Xdel(X)(p22)-Befund. Hum Genet 31:263-270
-
(1976)
Hum Genet
, vol.31
, pp. 263-270
-
-
Bartsch-Sandhoff, M.1
Terinde, R.2
Wiegelmann, W.3
Scholz, W.4
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
6
-
-
76549210828
-
Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations
-
Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2:142-155
-
(1965)
J Med Genet
, vol.2
, pp. 142-155
-
-
Ferguson-Smith, M.A.1
-
7
-
-
0000636886
-
Genotype-phenotype correlations in individuals with disorders of sex determination and development including Turner's syndrome
-
Ferguson-Smith MA (1991) Genotype-phenotype correlations in individuals with disorders of sex determination and development including Turner's syndrome. Semin Dev Biol 2:265-276
-
(1991)
Semin Dev Biol
, vol.2
, pp. 265-276
-
-
Ferguson-Smith, M.A.1
-
8
-
-
0025938038
-
Identification and characterization of the familial adenomatous polyposis coli gene
-
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Paslier D Le, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600
-
(1991)
Cell
, vol.66
, pp. 589-600
-
-
Groden, J.1
Thliveris, A.2
Samowitz, W.3
Carlson, M.4
Gelbert, L.5
Albertsen, H.6
Joslyn, G.7
Stevens, J.8
Spirio, L.9
Robertson, M.10
Sargeant, L.11
Krapcho, K.12
Wolff, E.13
Burt, R.14
Hughes, J.P.15
Warrington, J.16
McPherson, J.17
Wasmuth, J.18
Paslier, D.Le.19
Abderrahim, H.20
Cohen, D.21
Leppert, M.22
White, R.23
more..
-
9
-
-
0018875224
-
A new case of Y to X translocation in a female
-
Hecht T, Cooke HJ, Cerrillo M, Meer B, Reck G, Hameister H (1980) A new case of Y to X translocation in a female. Hum Genet 54:303-307
-
(1980)
Hum Genet
, vol.54
, pp. 303-307
-
-
Hecht, T.1
Cooke, H.J.2
Cerrillo, M.3
Meer, B.4
Reck, G.5
Hameister, H.6
-
10
-
-
0026736249
-
Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms
-
Hudson TJ, Engelstein M, Lee MK, Ho EC, Rubenfield MJ, Adams CP, Housman DE, Dracopoli NC (1992) Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13:622-629
-
(1992)
Genomics
, vol.13
, pp. 622-629
-
-
Hudson, T.J.1
Engelstein, M.2
Lee, M.K.3
Ho, E.C.4
Rubenfield, M.J.5
Adams, C.P.6
Housman, D.E.7
Dracopoli, N.C.8
-
11
-
-
0031408984
-
Molecular characterisation of isochromosomes of Xq
-
James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF, Mitchell C, Jacobs PA (1997) Molecular characterisation of isochromosomes of Xq. Ann Hum Genet 61:485-490
-
(1997)
Ann Hum Genet
, vol.61
, pp. 485-490
-
-
James, R.S.1
Dalton, P.2
Gustashaw, K.3
Wolff, D.J.4
Willard, H.F.5
Mitchell, C.6
Jacobs, P.A.7
-
12
-
-
0029830360
-
The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2
-
Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, Affara NA (1996) The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. Hum Mol Genet 5:1695-1701
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1695-1701
-
-
Jones, M.H.1
Furlong, R.A.2
Burkin, H.3
Chalmers, I.J.4
Brown, G.M.5
Khwaja, O.6
Affara, N.A.7
-
13
-
-
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 GA, Lanceva OE, Wang MR, Giollant M, Malet P, Kascheeva T, Vakharlovsky V, Varanov VS (1994) 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)
J Med Genet
, vol.31
, 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
Varanov, V.S.11
-
14
-
-
0027958509
-
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic and molecular characterization
-
Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY, Ballabio A (1994) Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization. Am J Hum Genet 49:229-234
-
(1994)
Am J Hum Genet
, vol.49
, pp. 229-234
-
-
Lindsay, E.A.1
Grillo, A.2
Ferrero, G.B.3
Roth, E.J.4
Magenis, E.5
Grompe, M.6
Hultén, M.7
Gould, C.8
Baldini, A.9
Zoghbi, H.Y.10
Ballabio, A.11
-
15
-
-
0026439128
-
Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome
-
Massa G, Vandershueren-Lodeweyckx M, Fryns JP (1992) Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome. Eur J Pediatr 151:893-894
-
(1992)
Eur J Pediatr
, vol.151
, pp. 893-894
-
-
Massa, G.1
Vandershueren-Lodeweyckx, M.2
Fryns, J.P.3
-
16
-
-
0027454015
-
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: Implications for the mapping of X linked ocular albinism
-
Meindl A, Hosenfeld D, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann H-C, Swensson O, Bouloux P, Meitinger T (1993) Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. J Med Genet 30:838-842
-
(1993)
J Med Genet
, vol.30
, pp. 838-842
-
-
Meindl, A.1
Hosenfeld, D.2
Brückl, W.3
Schuffenhauer, S.4
Jenderny, J.5
Bacskulin, A.6
Oppermann, H.-C.7
Swensson, O.8
Bouloux, P.9
Meitinger, T.10
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
18
-
-
14444286943
-
X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content
-
Nagaraja R, Macmillan S, Kere J, Jones C, Griffin S, Schmatz M, Terrell J, Shomaker M, Jermak C, Holt C, Masisi M, Mumm S, Srivastava A, Pilia G, Featherstone T, Mazzarella R, Kesterson S, McCauley B, Railey B, Burough F, Nowotny V, d'Urso M, States D, Brownstein B, Schlessinger D (1997) X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res 7:210-222
-
(1997)
Genome Res
, vol.7
, pp. 210-222
-
-
Nagaraja, R.1
Macmillan, S.2
Kere, J.3
Jones, C.4
Griffin, S.5
Schmatz, M.6
Terrell, J.7
Shomaker, M.8
Jermak, C.9
Holt, C.10
Masisi, M.11
Mumm, S.12
Srivastava, A.13
Pilia, G.14
Featherstone, T.15
Mazzarella, R.16
Kesterson, S.17
McCauley, B.18
Railey, B.19
Burough, F.20
Nowotny, V.21
D'Urso, M.22
States, D.23
Brownstein, B.24
Schlessinger, D.25
more..
-
19
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
-
Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95:607-629
-
(1995)
Hum Genet
, vol.95
, pp. 607-629
-
-
Ogata, T.1
Matsuo, N.2
-
20
-
-
0018868560
-
Observations in a case of an X/Y translocation, t(X;Y)(p22;q11) in a mother and son
-
Pfeiffer RA (1980) 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)
Cytogenet Cell Genet
, vol.26
, pp. 150-157
-
-
Pfeiffer, R.A.1
-
21
-
-
0022446922
-
Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridisation
-
Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridisation. Proc Natl Acad Sci USA 83:2934-2938
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
22
-
-
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, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54-62
-
(1997)
Nat Genet
, vol.16
, pp. 54-62
-
-
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
-
23
-
-
0027291742
-
A high resolution deletion map of human chromosome Xp22
-
Schaefer L, Ferrero GB, Grille A, Bassi MT, Roth EJ, Wapenaar MC, Ommen G-JB van, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A (1993) A high resolution deletion map of human chromosome Xp22. Nat Genet 4:272-279
-
(1993)
Nat Genet
, vol.4
, pp. 272-279
-
-
Schaefer, L.1
Ferrero, G.B.2
Grille, A.3
Bassi, M.T.4
Roth, E.J.5
Wapenaar, M.C.6
Van Ommen, G.-J.B.7
Mohandas, T.K.8
Rocchi, M.9
Zoghbi, H.Y.10
Ballabio, A.11
-
24
-
-
0015246254
-
A rapid banding technique for human chromosomes
-
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet ii:971-972
-
(1971)
Lancet
, vol.2
, pp. 971-972
-
-
Seabright, M.1
-
25
-
-
16944366964
-
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
-
Skuse DH, James RS, Bishop DVM, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA (1997) Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708
-
(1997)
Nature
, vol.387
, pp. 705-708
-
-
Skuse, D.H.1
James, R.S.2
Bishop, D.V.M.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
-
26
-
-
0027313285
-
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterisation of the critical regions
-
Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghi HY (1993) The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterisation of the critical regions. Hum Mol Genet 2:947-952
-
(1993)
Hum Mol Genet
, vol.2
, pp. 947-952
-
-
Wapenaar, M.C.1
Bassi, M.T.2
Schaefer, L.3
Grillo, A.4
Ferrero, G.B.5
Chinault, A.C.6
Ballabio, A.7
Zoghi, H.Y.8
-
27
-
-
0017126281
-
Analysis of deoxyribonucleic acid repli- Cation in human X chromosomes by fluorescence microscopy
-
Willard HF, Latt SA (1976) Analysis of deoxyribonucleic acid repli- cation in human X chromosomes by fluorescence microscopy. Am J Hum Genet 28:213-227
-
(1976)
Am J Hum Genet
, vol.28
, pp. 213-227
-
-
Willard, H.F.1
Latt, S.A.2
-
28
-
-
0020039712
-
Structural anomalies of the X chromosome: Personal observation and review of non-mosaic cases
-
Wyss D, DeLozier CD, Daniell J, Engel E (1982) Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases. Clin Genet 21:145-159
-
(1982)
Clin Genet
, vol.21
, pp. 145-159
-
-
Wyss, D.1
Delozier, C.D.2
Daniell, J.3
Engel, E.4
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