-
1
-
-
0032728004
-
FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
-
Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, et al. (1999). FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet 7:748-756.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 748-756
-
-
Bartsch, O.1
Wagner, A.2
Hinkel, G.K.3
Krebs, P.4
Stumm, M.5
Schmalenberger, B.6
-
2
-
-
0035058522
-
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
-
Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M (2001). Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 38:273-278.
-
(2001)
J Med Genet
, vol.38
, pp. 273-278
-
-
Hannula, K.1
Kere, J.2
Pirinen, S.3
Holmberg, C.4
Lipsanen-Nyman, M.5
-
3
-
-
0035662379
-
Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
-
Hitchins MP, Stanier P, Preece MA, Moore GE (2001). Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 28:810-819.
-
(2001)
J Med Genet
, vol.28
, pp. 810-819
-
-
Hitchins, M.P.1
Stanier, P.2
Preece, M.A.3
Moore, G.E.4
-
4
-
-
0028968840
-
A search for uniparental disomy in carriers of supernumerary marker chromosomes
-
James RS, Temple IK, Dennis NR, Crolla JA (1995). A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3:21-26.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 21-26
-
-
James, R.S.1
Temple, I.K.2
Dennis, N.R.3
Crolla, J.A.4
-
5
-
-
0032846736
-
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
-
Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK (1999). Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 105:273-280.
-
(1999)
Hum Genet
, vol.105
, pp. 273-280
-
-
Joyce, C.A.1
Sharp, A.2
Walker, J.M.3
Bullman, H.4
Temple, I.K.5
-
6
-
-
0036796014
-
Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): Coincidence or consequence?
-
Kotzot D (2002). Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? J Med Genet 39:775-778.
-
(2002)
J Med Genet
, vol.39
, pp. 775-778
-
-
Kotzot, D.1
-
7
-
-
0032958525
-
47,XX,UPD(7)mat, + r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region
-
Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N (1999). 47,XX,UPD(7)mat, + r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet 36:326-329.
-
(1999)
J Med Genet
, vol.36
, pp. 326-329
-
-
Miyoshi, O.1
Kondoh, T.2
Taneda, H.3
Otsuka, K.4
Matsumoto, T.5
Niikawa, N.6
-
8
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence EJ, Periaccante RG, Greig GM, Willard HF, Ledbetter DJ, Hejtmancik JF, et al. (1988). Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, E.J.1
Periaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.J.5
Hejtmancik, J.F.6
-
9
-
-
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 (1995). Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 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
|