-
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
-
-
0028906338
-
Autism is a strongly genetic disorder: Evidence from a British twin study
-
Bailey A, Couteur A Le, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M (1995) Autism is a strongly genetic disorder: evidence from a British twin study. Psychol Med 25:63-77
-
(1995)
Psychol Med
, vol.25
, pp. 63-77
-
-
Bailey, A.1
Couteur, A.L.2
Gottesman, I.3
Bolton, P.4
Simonoff, E.5
Yuzda, E.6
Rutter, M.7
-
4
-
-
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
-
5
-
-
0029099356
-
Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8) (p22.13;q22.1)
-
Bolton P, Powell J, Rutter M, Buckle V, Yates JRW, Ishikawa-Brush Y, Monaco AP (1995) Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8) (p22.13;q22.1). Psychiatr Genet 5:51-55
-
(1995)
Psychiatr Genet
, vol.5
, pp. 51-55
-
-
Bolton, P.1
Powell, J.2
Rutter, M.3
Buckle, V.4
Yates, J.R.W.5
Ishikawa-Brush, Y.6
Monaco, A.P.7
-
6
-
-
0031877023
-
A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region
-
Cox TC, Co LL, Ballabio A (1998) A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region. Eur J Hum Genet 6:406-412
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 406-412
-
-
Cox, T.C.1
Co, L.L.2
Ballabio, A.3
-
7
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure JS, 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
Faure, J.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
-
8
-
-
0002643064
-
Pigmentary mosaicism: Hypomelanosis of Ito
-
Donnai D, Winter RM (eds). Chapman Hall Medical, London
-
Donnai D (1995) Pigmentary mosaicism: hypomelanosis of Ito. In: Donnai D, Winter RM (eds) Congenital malformation syndromes. Chapman Hall Medical, London pp 379-385
-
(1995)
Congenital Malformation Syndromes
, pp. 379-385
-
-
Donnai, D.1
-
9
-
-
0028892091
-
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
-
Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Meta J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A (1995) An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 4:1821-1827
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1821-1827
-
-
Ferrero, G.B.1
Franco, B.2
Roth, E.J.3
Firulli, B.A.4
Borsani, G.5
Delmas-Meta, J.6
Weissenbach, J.7
Halley, G.8
Schlessinger, D.9
Chinault, A.C.10
Zoghbi, H.Y.11
Nelson, D.L.12
Ballabio, A.13
-
10
-
-
0029864121
-
Autism and medical disorders: A review of the literature
-
Gillberg C, Coleman M (1996) Autism and medical disorders: a review of the literature. Dev Med Child Neurol 38:191-202
-
(1996)
Dev Med Child Neurol
, vol.38
, pp. 191-202
-
-
Gillberg, C.1
Coleman, M.2
-
11
-
-
85008560109
-
Autism and the X chromosome
-
Hallmayer J, Herbert JM, Spiker D, Lotspeich L, McMahon WM, Petersen PB, Nicolas P, Pingree C, Lin AA, Cavalli-Sforza LL, Risch N, Ciaranello RD (1996) Autism and the X chromosome. Arch Gen Psychiatry 53:985-989
-
(1996)
Arch Gen Psychiatry
, vol.53
, pp. 985-989
-
-
Hallmayer, J.1
Herbert, J.M.2
Spiker, D.3
Lotspeich, L.4
McMahon, W.M.5
Petersen, P.B.6
Nicolas, P.7
Pingree, C.8
Lin, A.A.9
Cavalli-Sforza, L.L.10
Risch, N.11
Ciaranello, R.D.12
-
12
-
-
0029978890
-
Hypomelanosis of Ito and X:autosome translocations: A unifying hypothesis
-
Hatchwell E (1996) Hypomelanosis of Ito and X:autosome translocations: a unifying hypothesis. J Med Genet 33:177-183
-
(1996)
J Med Genet
, vol.33
, pp. 177-183
-
-
Hatchwell, E.1
-
13
-
-
0029995003
-
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X:17 translocation; evidence for functional disomy of Xp
-
Hatchwell E, Robinson D, Crolla JA, Cockwell, AE (1996) X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X:7 translocation; evidence for functional disomy of Xp. J Med Genet 33:216-220
-
(1996)
J Med Genet
, vol.33
, pp. 216-220
-
-
Hatchwell, E.1
Robinson, D.2
Crolla, J.A.3
Cockwell, A.E.4
-
14
-
-
6844251000
-
A full genome screen for autism with evidence for linkage to a region on chromosome 7q
-
International Molecular Genetic Study of Autism (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 7:571-578
-
(1998)
Hum Mol Genet
, vol.7
, pp. 571-578
-
-
-
15
-
-
0030795260
-
Autism and multiple exostoses associated with an X:8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene
-
Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP (1997) Autism and multiple exostoses associated with an X:8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Hum Mol Genet 6:1241-1250
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1241-1250
-
-
Ishikawa-Brush, Y.1
Powell, J.F.2
Bolton, P.3
Miller, A.P.4
Francis, F.5
Willard, H.F.6
Lehrach, H.7
Monaco, A.P.8
-
16
-
-
0031798509
-
A study of females with deletions of the short arm of the X chromosome
-
James RS, Coppin B, Dalton P, Dennis NR, Mitchell C, Sharp AJ, Skuse DH, Thomas NS, Jacobs PA (1998) A study of females with deletions of the short arm of the X chromosome. Hum Genet 102:507-516
-
(1998)
Hum Genet
, vol.102
, pp. 507-516
-
-
James, R.S.1
Coppin, B.2
Dalton, P.3
Dennis, N.R.4
Mitchell, C.5
Sharp, A.J.6
Skuse, D.H.7
Thomas, N.S.8
Jacobs, P.A.9
-
17
-
-
0025997752
-
Complex segregation analysis of autism
-
Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C, McMahon WM, Petersen B, Jenson WR, Mo A (1991) Complex segregation analysis of autism. Am J Hum Genet 49:932-938
-
(1991)
Am J Hum Genet
, vol.49
, pp. 932-938
-
-
Jorde, L.B.1
Hasstedt, S.J.2
Ritvo, E.R.3
Mason-Brothers, A.4
Freeman, B.J.5
Pingree, C.6
McMahon, W.M.7
Petersen, B.8
Jenson, W.R.9
Mo, A.10
-
18
-
-
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, Hulten 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
Hulten, M.7
Gould, C.8
Baldini, A.9
Zoghbi, H.Y.10
Ballabio, A.11
-
19
-
-
0027351015
-
The neurobiology and genetics of infantile autism
-
Lotspeich LJ, Ciaranello RD (1993) The neurobiology and genetics of infantile autism. Int Rev Neurobiol 35:87-129
-
(1993)
Int Rev Neurobiol
, vol.35
, pp. 87-129
-
-
Lotspeich, L.J.1
Ciaranello, R.D.2
-
20
-
-
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
-
21
-
-
14444286943
-
X chromosome map at 75-kb STS resoluation, revealing extremes of recombination and GC content
-
Nagaraja R, Macmillan S, Kere J, Jones C, Griffin S, Schmatz M, Terrell J, Schomaker M, Jermak C, Hott C, Masisi M, Mumm S, Srivastava A, Pilia G, Featherstone T, Mazzarella R, Kesterson S, McCauley B, Railey B, Burough F, Mowotny V, D'Urso M, States D, Brownstein B, Schlessinger D (1997) X chromosome map at 75-kb STS resoluation, 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
Schomaker, M.8
Jermak, C.9
Hott, 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
Mowotny, V.21
D'Urso, M.22
States, D.23
Brownstein, B.24
Schlessinger, D.25
more..
-
22
-
-
23444458594
-
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
-
Pegoraro E, Schimke RN, Arahata K, Hayashi Y, Stern H, Marks H, Glasberg MR, Carroll JE, Taber JW, Wessel HB, Bauserman SC, Marks WA, Toriello HV, Higgins JV, Appleton S, Schwartz L. Garcia CA, Huffman EP (1994) Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 54:989-1003
-
(1994)
Am J Hum Genet
, vol.54
, pp. 989-1003
-
-
Pegoraro, E.1
Schimke, R.N.2
Arahata, K.3
Hayashi, Y.4
Stern, H.5
Marks, H.6
Glasberg, M.R.7
Carroll, J.E.8
Taber, J.W.9
Wessel, H.B.10
Bauserman, S.C.11
Marks, W.A.12
Toriello, H.V.13
Higgins, J.V.14
Appleton, S.15
Schwartz, L.16
Garcia, C.A.17
Huffman, E.P.18
-
23
-
-
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
-
24
-
-
0027964499
-
Molecular cytogenetic analysis of a duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome
-
Rao PN, Klinepeter K, Stewart W, Hayworth R, Grubs R, Pettenati MJ (1994) Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome. Hum Genet 94:149-153
-
(1994)
Hum Genet
, vol.94
, pp. 149-153
-
-
Rao, P.N.1
Klinepeter, K.2
Stewart, W.3
Hayworth, R.4
Grubs, R.5
Pettenati, M.J.6
-
25
-
-
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
-
27
-
-
0027291742
-
A high resolution deletion map of human chromosome Xp22
-
Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, Ommen GJB 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
Grillo, 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
-
28
-
-
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
-
29
-
-
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
-
30
-
-
0028857007
-
Polygenic disease: Methods for mapping complex disease traits
-
Weeks DE, Lathrop GM (1995) Polygenic disease: methods for mapping complex disease traits. Trends Genet 11:513-519
-
(1995)
Trends Genet
, vol.11
, pp. 513-519
-
-
Weeks, D.E.1
Lathrop, G.M.2
-
31
-
-
0000713423
-
Hypomelanosis of Ito is frequently associated with autism
-
Zapella M (1992) Hypomelanosis of Ito is frequently associated with autism. Eur Child Adolescent Psychiatry 1:170-177
-
(1992)
Eur Child Adolescent Psychiatry
, vol.1
, pp. 170-177
-
-
Zapella, M.1
|