-
1
-
-
0021344697
-
Close genetic linkage between X-linked retinitis pigmentosa and a recombinant DNA probe L1.28
-
Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CM, Jay M, Bird AC, Pearson PL, Southern EM, Evans HJ (1984): Close genetic linkage between X-linked retinitis pigmentosa and a recombinant DNA probe L1.28. Nature 309:253-255.
-
(1984)
Nature
, vol.309
, pp. 253-255
-
-
Bhattacharya, S.S.1
Wright, A.F.2
Clayton, J.F.3
Price, W.H.4
Phillips, C.I.5
McKeown, C.M.6
Jay, M.7
Bird, A.C.8
Pearson, P.L.9
Southern, E.M.10
Evans, H.J.11
-
2
-
-
0024348268
-
Origins of recognizable syndromes: Etiologic and pathogenetic mechanisms and the process of syndrome delineation
-
Cohen MM Jr, Cole DEC (1989): Origins of recognizable syndromes: Etiologic and pathogenetic mechanisms and the process of syndrome delineation. J Pediatr 115:161-164.
-
(1989)
J Pediatr
, vol.115
, pp. 161-164
-
-
Cohen Jr., M.M.1
Cole, D.E.C.2
-
3
-
-
0026556879
-
Tuberous sclerosis, agenesis of the corpus callosum and Lennox-Gastaut syndrome: Mere chance or a new syndrome?
-
DeMarco P (1992): Tuberous sclerosis, agenesis of the corpus callosum and Lennox-Gastaut syndrome: Mere chance or a new syndrome? Clin Electroencephalogr 23:7-9.
-
(1992)
Clin Electroencephalogr
, vol.23
, pp. 7-9
-
-
DeMarco, P.1
-
4
-
-
0019209139
-
L-2-Hydroxyglutaric aciduria: An inborn error of metabolism
-
Duran M, Kammverling JP, Bakker HD, Van Hennip AH, Wadman K (1980): L-2-Hydroxyglutaric aciduria: An inborn error of metabolism. J Inherited Metub Dis 3:109-112.
-
(1980)
J Inherited Metub Dis
, vol.3
, pp. 109-112
-
-
Duran, M.1
Kammverling, J.P.2
Bakker, H.D.3
Van Hennip, A.H.4
Wadman, K.5
-
6
-
-
0020793569
-
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
-
Feinberg AP, Vogelstein B (1983): A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6-13.
-
(1983)
Anal Biochem
, vol.132
, pp. 6-13
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
8
-
-
0344360132
-
Contiguous gene syndromes
-
Greenberg F (1993): Contiguous gene syndromes. Growth Genet Horm 9:5-10.
-
(1993)
Growth Genet Horm
, vol.9
, pp. 5-10
-
-
Greenberg, F.1
-
9
-
-
84908801777
-
An International System for Human Cytogenetic Nomenclature
-
Harnden DG, Klinger HP (eds): Published in collaboration with Basel: Karger, 1985
-
ISCN (1985): "An International System for Human Cytogenetic Nomenclature." In Harnden DG, Klinger HP (eds): Published in collaboration with Cytogenet Cell Genet, Basel: Karger, 1985;
-
(1985)
Cytogenet Cell Genet
-
-
-
10
-
-
33750204961
-
-
also in Birth Defects 21(1): p.57.
-
Birth Defects
, vol.21
, Issue.1
, pp. 57
-
-
-
11
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987): Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
12
-
-
0024689459
-
Agenesis of the corpus callosum: A marker for inherited metabolic disease?
-
Kolodny EH (1989): Agenesis of the corpus callosum: A marker for inherited metabolic disease? Neurology 39:847-848.
-
(1989)
Neurology
, vol.39
, pp. 847-848
-
-
Kolodny, E.H.1
-
13
-
-
0027941201
-
A New nonsyndromic X-linked sensoryneural hearing impairment linked to Xp21.2
-
Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER (1994): A New nonsyndromic X-linked sensoryneural hearing impairment linked to Xp21.2. Am J Hum Genet 55:685-694.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 685-694
-
-
Lalwani, A.K.1
Brister, J.R.2
Fex, J.3
Grundfast, K.M.4
Pikus, A.T.5
Ploplis, B.6
San Agustin, T.7
Skarka, H.8
Wilcox, E.R.9
-
15
-
-
0017689863
-
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria
-
McCabe ERB, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI (1977): Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun 78:1327-1333.
-
(1977)
Biochem Biophys Res Commun
, vol.78
, pp. 1327-1333
-
-
McCabe, E.R.B.1
Fennessey, P.V.2
Guggenheim, M.A.3
Miles, B.S.4
Bullen, W.W.5
Sceats, D.J.6
Goodman, S.I.7
-
16
-
-
0013663724
-
Chromosome preparations of leukocytes cultured from human peripheral blood
-
Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA (1960): Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res 20:613-616.
-
(1960)
Exp Cell Res
, vol.20
, pp. 613-616
-
-
Moorhead, P.S.1
Nowell, P.C.2
Mellman, W.J.3
Battips, D.M.4
Hungerford, D.A.5
-
17
-
-
0023687513
-
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis
-
Musarella MA, Burghes A, Anson-Cartwright L, Mahtani MM, Argonza R, Tsui LC, Worton R (1988): Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet 43:484-494.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 484-494
-
-
Musarella, M.A.1
Burghes, A.2
Anson-Cartwright, L.3
Mahtani, M.M.4
Argonza, R.5
Tsui, L.C.6
Worton, R.7
-
18
-
-
0026322751
-
Sex identification by polymerase chain reaction using X-Y homologous primers
-
Nakahori Y, Hamano K, Iwaya M, Nakagome Y (1991): Sex identification by polymerase chain reaction using X-Y homologous primers. Am J Med Genet 39:472-473.
-
(1991)
Am J Med Genet
, vol.39
, pp. 472-473
-
-
Nakahori, Y.1
Hamano, K.2
Iwaya, M.3
Nakagome, Y.4
-
19
-
-
0021992325
-
Mapping ophthalmological disease II. Linkage of relationship of X-linked retinitis pigmentosa to X chromosome short arm markers
-
Nussbaum RL, Lewis RA, Lesko JG, Ferrel R (1985): Mapping ophthalmological disease II. Linkage of relationship of X-linked retinitis pigmentosa to X chromosome short arm markers. Hum Genet 70:45-50.
-
(1985)
Hum Genet
, vol.70
, pp. 45-50
-
-
Nussbaum, R.L.1
Lewis, R.A.2
Lesko, J.G.3
Ferrel, R.4
-
20
-
-
0025190712
-
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
-
Ott J, Bhattacharya SS, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Prey D, Gal A, Humphries P, Jay B, Jay M, Litt M, Machler M, Musarella M, Neugebauer M, Nussbaum R, Terwilliger JD, Weleber RG, Wirth B, Wong F, Worton R, Wright A (1990): Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA 87:701-704.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 701-704
-
-
Ott, J.1
Bhattacharya, S.S.2
Chen, J.D.3
Denton, M.J.4
Donald, J.5
Dubay, C.6
Farrar, G.J.7
Fishman, G.A.8
Prey, D.9
Gal, A.10
Humphries, P.11
Jay, B.12
Jay, M.13
Litt, M.14
Machler, M.15
Musarella, M.16
Neugebauer, M.17
Nussbaum, R.18
Terwilliger, J.D.19
Weleber, R.G.20
Wirth, B.21
Wong, F.22
Worton, R.23
Wright, A.24
more..
-
21
-
-
0026741109
-
New X-linked syndrome with seizures, acquired microencephaly, and agenesis of the corpus callosum
-
Proud VK, Levine C, Carpenter NJ (1992): New X-linked syndrome with seizures, acquired microencephaly, and agenesis of the corpus callosum. Am J Med Genet 43:458-466.
-
(1992)
Am J Med Genet
, vol.43
, pp. 458-466
-
-
Proud, V.K.1
Levine, C.2
Carpenter, N.J.3
-
22
-
-
0022432484
-
Rapid transfer of DNA from agarose gels to nylon membranes
-
Reed KC, Mann DA (1985): Rapid transfer of DNA from agarose gels to nylon membranes. Nucleic Acid Res 13:7207-7221.
-
(1985)
Nucleic Acid Res
, vol.13
, pp. 7207-7221
-
-
Reed, K.C.1
Mann, D.A.2
-
23
-
-
0026058119
-
Partial agenesis of the anterior corpus callosum: Correlation between appearance, imaging and neurophatology
-
Schaefer GB, Shuman RM, Wilson DA, Saleeb S, Domek DB, Johnson SF, Bodensteiner JB (1991): Partial agenesis of the anterior corpus callosum: Correlation between appearance, imaging and neurophatology. Pediatr Neurol 7:39-44.
-
(1991)
Pediatr Neurol
, vol.7
, pp. 39-44
-
-
Schaefer, G.B.1
Shuman, R.M.2
Wilson, D.A.3
Saleeb, S.4
Domek, D.B.5
Johnson, S.F.6
Bodensteiner, J.B.7
-
24
-
-
0029017755
-
Dysmorphic features in patients with complex glycerol kinase deficiency
-
Scheuerle A, Greenberg F, McCabe E (1995): Dysmorphic features in patients with complex glycerol kinase deficiency. J Pediatr 126/I:764-767.
-
(1995)
J Pediatr
, vol.126
, Issue.1
, pp. 764-767
-
-
Scheuerle, A.1
Greenberg, F.2
McCabe, E.3
-
25
-
-
0024360902
-
ZFX has a gene structure similar to ZFY, the putative human sex determining gene, and escapes X inactivation
-
Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaum R, Page D (1989): ZFX has a gene structure similar to ZFY, the putative human sex determining gene, and escapes X inactivation. Cell 57:1247-1258.
-
(1989)
Cell
, vol.57
, pp. 1247-1258
-
-
Schneider-Gädicke, A.1
Beer-Romero, P.2
Brown, L.G.3
Nussbaum, R.4
Page, D.5
-
26
-
-
0016700864
-
Detection of specific sequences among DNA fragments separated by gel electrophoresis
-
Southern EM (1975): Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503-517.
-
(1975)
J Mol Biol
, vol.98
, pp. 503-517
-
-
Southern, E.M.1
-
27
-
-
0027720298
-
Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy
-
Vles JS, de Die-Smulders C, Van der Hoeven M, Fryns JP (1993): Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy. Genet Couns 4:239-240.
-
(1993)
Genet Couns
, vol.4
, pp. 239-240
-
-
Vles, J.S.1
De Die-Smulders, C.2
Van Der Hoeven, M.3
Fryns, J.P.4
-
28
-
-
0017258328
-
High resolution of human chromosomes
-
Yunis Y (1976): High resolution of human chromosomes. Science 191:1268-1270.
-
(1976)
Science
, vol.191
, pp. 1268-1270
-
-
Yunis, Y.1
|