-
1
-
-
78651048074
-
Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins
-
Silver HK, Kiyasu W, George J. Deamer WC: Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins. Pediatrics 1953;12:368-375.
-
(1953)
Pediatrics
, vol.12
, pp. 368-375
-
-
Silver, H.K.1
Kiyasu, W.2
George, J.3
Deamer, W.C.4
-
2
-
-
0000771975
-
A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms and other anomalies
-
Russell A: A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms and other anomalies. Proc R Soc Med 1954;47: 1040-1044.
-
(1954)
Proc R Soc Med
, vol.47
, pp. 1040-1044
-
-
Russell, A.1
-
3
-
-
0028827636
-
Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients
-
Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB: Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients. Eur J Pediatr 1995;154:958-968.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 958-968
-
-
Wollmann, H.A.1
Kirchner, T.2
Enders, H.3
Preece, M.A.4
Ranke, M.B.5
-
4
-
-
0028111681
-
Paternal isodisomy for chromosome is compatible with normal growth and development in a patient with congenital chloride diarrhea
-
Hoglund P, Holmberg C, de la Chapelle A, Kere J: Paternal isodisomy for chromosome is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 1994;55:747-752.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 747-752
-
-
Hoglund, P.1
Holmberg, C.2
De La Chapelle, A.3
Kere, J.4
-
5
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Mehes K, Hamel BC, Otten BJ, Hergersberg M, Werder F, Schoenle E, Schinzel A: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995;4:583-587.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bernasconi, F.3
Robinson, W.P.4
Lurie, I.W.5
Ilyina, H.6
Mehes, K.7
Hamel, B.C.8
Otten, B.J.9
Hergersberg, M.10
Werder, F.11
Schoenle, E.12
Schinzel, A.13
-
6
-
-
0008610991
-
Chromosome 7 uniparental disomy in Russell-Silver syndrome
-
Shuman C, Weksberg R, Nedelscu R, Northey A, Scherer S: Chromosome 7 uniparental disomy in Russell-Silver syndrome. Am J Hum Genet 1996;57S:A284.
-
(1996)
Am J Hum Genet
, vol.57 S
-
-
Shuman, C.1
Weksberg, R.2
Nedelscu, R.3
Northey, A.4
Scherer, S.5
-
7
-
-
0030930299
-
Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
-
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB: Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy. Hum Genet 1997;100:415-419.
-
(1997)
Hum Genet
, vol.100
, pp. 415-419
-
-
Eggermann, T.1
Wollmann, H.A.2
Kuner, R.3
Eggermann, K.4
Enders, H.5
Kaiser, P.6
Ranke, M.B.7
-
8
-
-
0031036341
-
Maternal uniparental disomy 7 in Silver-Russell syndrome
-
Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE: Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 1997;34:6-9.
-
(1997)
J Med Genet
, vol.34
, pp. 6-9
-
-
Preece, M.A.1
Price, S.M.2
Davies, V.3
Clough, L.4
Stanier, P.5
Trembath, R.C.6
Moore, G.E.7
-
9
-
-
0031778075
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ: Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 1998;62:1551-1555.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1551-1555
-
-
Pan, Y.1
McCaskill, C.D.2
Thompson, K.H.3
Hicks, J.4
Casey, B.5
Shaffer, L.G.6
Craigen, W.J.7
-
10
-
-
0028023046
-
Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation
-
Eggerding FA, Schönberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ: Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 1994;55:253-265.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 253-265
-
-
Eggerding, F.A.1
Schönberg, S.A.2
Chehab, F.F.3
Norton, M.E.4
Cox, V.A.5
Epstein, C.J.6
-
11
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus
-
Spotila LD, Sereda L, Prockop DJ: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 1992;51: 1396-1405.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1396-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prockop, D.J.3
-
12
-
-
0027942438
-
Insulin-like growth factors and their binding proteins in normal and abnormal human fetal growth
-
Chard T: Insulin-like growth factors and their binding proteins in normal and abnormal human fetal growth. Growth Regul 1994;4:91-100.
-
(1994)
Growth Regul
, vol.4
, pp. 91-100
-
-
Chard, T.1
-
13
-
-
0029930716
-
Insulin-like growth factor-binding proteins (IGFBPs) and their regulatory dynamics
-
Kelley KM, Oh Y, Gargosky SE, Gucev Z, Matsumoto T, Hwa V, Ng L, Simpson DM, Rosenfeld RG: Insulin-like growth factor-binding proteins (IGFBPs) and their regulatory dynamics. Int J Biochem Cell Biol 1996;28:619-637.
-
(1996)
Int J Biochem Cell Biol
, vol.28
, pp. 619-637
-
-
Kelley, K.M.1
Oh, Y.2
Gargosky, S.E.3
Gucev, Z.4
Matsumoto, T.5
Hwa, V.6
Ng, L.7
Simpson, D.M.8
Rosenfeld, R.G.9
-
14
-
-
0023805634
-
Serum half-life and biological activity of mutants of human insulin-like growth factor I which do not bind to serum binding proteins
-
Cascieri MA, Saperstein R, Hayes NS, Green BG, Chicchi GG, Applebaum J, Bayne ML: Serum half-life and biological activity of mutants of human insulin-like growth factor I which do not bind to serum binding proteins. Endocrinology 1988;123:373-381.
-
(1988)
Endocrinology
, vol.123
, pp. 373-381
-
-
Cascieri, M.A.1
Saperstein, R.2
Hayes, N.S.3
Green, B.G.4
Chicchi, G.G.5
Applebaum, J.6
Bayne, M.L.7
-
15
-
-
0026550374
-
Contiguous localisation of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7
-
Ehrenborg E, Larsson C, Stern I, Janson M, Powell DR, Luthman H: Contiguous localisation of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7. Genomics 1992; 12:497-502.
-
(1992)
Genomics
, vol.12
, pp. 497-502
-
-
Ehrenborg, E.1
Larsson, C.2
Stern, I.3
Janson, M.4
Powell, D.R.5
Luthman, H.6
-
16
-
-
0023695823
-
Primary structure of human insulin-like growth factor-binding protein/placental protein 12 and tissue-specific expression of its mRNA
-
Julkunen M, Koistinen R, Aalto-Setälä K, Seppälä M, Jänne OA, Kontula K: Primary structure of human insulin-like growth factor-binding protein/placental protein 12 and tissue-specific expression of its mRNA. FEBS Lett 1988;236:295-302.
-
(1988)
FEBS Lett
, vol.236
, pp. 295-302
-
-
Julkunen, M.1
Koistinen, R.2
Aalto-Setälä, K.3
Seppälä, M.4
Jänne, O.A.5
Kontula, K.6
-
17
-
-
13144281786
-
Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene
-
Miyoshi N, Kuroiwa Y, Kohda T, Shitara H, Yonekawa H, Kawaba T, Hasegawa H, Barton SC, Surani MA, Kaneko-Ishino T, Ishino F: Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc Natl Acad Sci USA 1998;95:1102-1107.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1102-1107
-
-
Miyoshi, N.1
Kuroiwa, Y.2
Kohda, T.3
Shitara, H.4
Yonekawa, H.5
Kawaba, T.6
Hasegawa, H.7
Barton, S.C.8
Surani, M.A.9
Kaneko-Ishino, T.10
Ishino, F.11
-
18
-
-
0031980399
-
Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of tissues
-
Wakeling EL, Abu-Amero SN, Stanier P, Preece MA, Moore GE: Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of tissues. Eur J Hum Genet 1998;6:158-164.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 158-164
-
-
Wakeling, E.L.1
Abu-Amero, S.N.2
Stanier, P.3
Preece, M.A.4
Moore, G.E.5
-
19
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction
-
Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction. Genomics 1989;5:874-879.
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
20
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
21
-
-
0025968683
-
Analysis of the VNTR locus D1S80 by PCR followed by high-resolution PAGE
-
Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen R: Analysis of the VNTR locus D1S80 by PCR followed by high-resolution PAGE. Am J Hum Genet 1991;48:137-144.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 137-144
-
-
Budowle, B.1
Chakraborty, R.2
Giusti, A.M.3
Eisenberg, A.J.4
Allen, R.5
-
22
-
-
0000262278
-
GENEPOP (version 1.2): A population genetics software for exact tests and ecumeniscism
-
Raymond M, Rousset F: GENEPOP (version 1.2): A population genetics software for exact tests and ecumeniscism. J Hered 1995;86:485-486.
-
(1995)
J Hered
, vol.86
, pp. 485-486
-
-
Raymond, M.1
Rousset, F.2
-
23
-
-
0024361866
-
The statistical analysis of mitochondrial DNA polymorphism: Chi-square and the problem of small samples
-
Roff DA, Bentzen P: The statistical analysis of mitochondrial DNA polymorphism: Chi-square and the problem of small samples. Molec Biol Evol 1989;6:539-545.
-
(1989)
Molec Biol Evol
, vol.6
, pp. 539-545
-
-
Roff, D.A.1
Bentzen, P.2
-
24
-
-
0024514325
-
Human insulin-like growth-factor-binding protein. Low-molecular mass form: Protein sequence and cDNA cloning
-
Luthman H, Söderling-Barros J, Persson B, Engberg C, Stern I, Lake M, Franzen SA, Israelsson M, Raden B, Lindgren B, Hjelmquist L, Enerbäck S, Carlsson P, Bjursell G, Povoa G, Hall K, Jörnvall H: Human insulin-like growth-factor-binding protein. Low-molecular mass form: Protein sequence and cDNA cloning. Eur J Biochem 1989;180:259-265.
-
(1989)
Eur J Biochem
, vol.180
, pp. 259-265
-
-
Luthman, H.1
Söderling-Barros, J.2
Persson, B.3
Engberg, C.4
Stern, I.5
Lake, M.6
Franzen, S.A.7
Israelsson, M.8
Raden, B.9
Lindgren, B.10
Hjelmquist, L.11
Enerbäck, S.12
Carlsson, P.13
Bjursell, G.14
Povoa, G.15
Hall, K.16
Jörnvall, H.17
-
25
-
-
0027434131
-
How sensitive is PCR-SSCP?
-
Hayashi K, Yandell DW: How sensitive is PCR-SSCP? Hum Mutat 1993;2:338-346.
-
(1993)
Hum Mutat
, vol.2
, pp. 338-346
-
-
Hayashi, K.1
Yandell, D.W.2
-
26
-
-
0030587572
-
Genomic imprinting and chromosomal localization of the human MEST gene
-
Nishita Y, Yoshida I, Sado T, Nobuo T: Genomic imprinting and chromosomal localization of the human MEST gene. Genomics 1996;36:539-542.
-
(1996)
Genomics
, vol.36
, pp. 539-542
-
-
Nishita, Y.1
Yoshida, I.2
Sado, T.3
Nobuo, T.4
-
27
-
-
0030947270
-
Human PEG1/MEST, an imprinted gene on chromosome 7
-
Kobayashi S, Kohda T, Miyoshi N, Kuriowa Y, Aisaka K, Tsutsumi C, Kaneko-Ishino F: Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 1997;6:781-786.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 781-786
-
-
Kobayashi, S.1
Kohda, T.2
Miyoshi, N.3
Kuriowa, Y.4
Aisaka, K.5
Tsutsumi, C.6
Kaneko-Ishino, F.7
-
28
-
-
0031172451
-
Monoallelic expression of human PEG1/ MEST is paralleled by parent-specific methylation in fetuses
-
Riesewijk AM, Hu L, Schulz U, Tariverdian G, Höglund P, Kere J, Ropers HH, Kalscheuer VM: Monoallelic expression of human PEG1/ MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997;42:236-244.
-
(1997)
Genomics
, vol.42
, pp. 236-244
-
-
Riesewijk, A.M.1
Hu, L.2
Schulz, U.3
Tariverdian, G.4
Höglund, P.5
Kere, J.6
Ropers, H.H.7
Kalscheuer, V.M.8
-
29
-
-
0028899741
-
Promotor-specific IGF2 imprinting status and its plasticity during human liver development
-
Ekström TJ, Cui H, Li X, Ohlsson R: Promotor-specific IGF2 imprinting status and its plasticity during human liver development. Development 1995;121:309-316.
-
(1995)
Development
, vol.121
, pp. 309-316
-
-
Ekström, T.J.1
Cui, H.2
Li, X.3
Ohlsson, R.4
-
30
-
-
0025351191
-
Insulin-like growth factor binding protein-3. Organization of the human chromosomal gene and demonstration of promotor activity
-
Cubbage ML, Suwanichkul A, Powell DR: Insulin-like growth factor binding protein-3. Organization of the human chromosomal gene and demonstration of promotor activity. J Biol Chem 1990;265:12642-12649.
-
(1990)
J Biol Chem
, vol.265
, pp. 12642-12649
-
-
Cubbage, M.L.1
Suwanichkul, A.2
Powell, D.R.3
|