-
1
-
-
0027447719
-
Mitotic errors in somatic cells cause trisomy 21 in about 4.5 % of cases and are not associated with advanced maternal age
-
Antonarakis S.E., Avramopoulos D., Blouin J.L., Talbot C.C. Jr, Schinzel A.A. Mitotic errors in somatic cells cause trisomy 21 in about 4.5 % of cases and are not associated with advanced maternal age. Nat. Genet. 3:1993;146-150.
-
(1993)
Nat. Genet.
, vol.3
, pp. 146-150
-
-
Antonarakis, S.E.1
Avramopoulos, D.2
Blouin, J.L.3
Talbot C.C., Jr.4
Schinzel, A.A.5
-
3
-
-
0003302724
-
Uniparental disomy and PEG1/MEST gene in Silver-Russell syndrome
-
Cogliati F., Russo S., Macchi M., Selicorni A., Bedeschi M.F., Natacci F., Parini R., Larizza L. Uniparental disomy and PEG1/MEST gene in Silver-Russell syndrome. Eur. J. Hum. Genet. 6S1:1998;P4.217.
-
(1998)
Eur. J. Hum. Genet.
, vol.61
, pp. 4217
-
-
Cogliati, F.1
Russo, S.2
Macchi, M.3
Selicorni, A.4
Bedeschi, M.F.5
Natacci, F.6
Parini, R.7
Larizza, L.8
-
4
-
-
0031468078
-
PEG1 expression in maternal uniparental disomy
-
Cuisset L., Le Stunff C., Dupont J.M., Vasseur C., Cartigny M., Despert F., Delpech M., Bougnerre P., Jeanpierre M. PEG1 expression in maternal uniparental disomy. Ann. Génét. 40:1997;211-215.
-
(1997)
Ann. Génét.
, vol.40
, pp. 211-215
-
-
Cuisset, L.1
Le Stunff, C.2
Dupont, J.M.3
Vasseur, C.4
Cartigny, M.5
Despert, F.6
Delpech, M.7
Bougnerre, P.8
Jeanpierre, M.9
-
5
-
-
0030930299
-
Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
-
Eggermann T., Wollmann H.A., Kuner R., Eggermann K., Enders H., Kaiser P., Ranke M.B. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum. Genet. 100:1997;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
-
6
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel E. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am. J. Med. Genet. 6:1980;137-143.
-
(1980)
Am. J. Med. Genet.
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
7
-
-
0032231561
-
Uniparental disomy in unselected populations
-
Engel E. Uniparental disomy in unselected populations. Am. J. Hum. Genet. 63:1998;962-966.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 962-966
-
-
Engel, E.1
-
8
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathorp M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat. Genet. 7:1994;812-816.
-
(1994)
Nat. Genet.
, vol.7
, pp. 812-816
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathorp, M.9
Weissenbach, J.10
-
9
-
-
0343531721
-
The origin of non-disjunction in humans
-
in: Summer A.T., Chandley A.C. (Eds.), London
-
Hassold T., Sherman S., The origin of non-disjunction in humans, in: Summer A.T., Chandley A.C. (Eds.), Chromosomes Today, Vol. 11, London, 1993, pp. 313-322.
-
(1993)
Chromosomes Today
, vol.11
, pp. 313-322
-
-
Hassold, T.1
Sherman, S.2
-
10
-
-
0343956517
-
Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7
-
Hehr U., Brömme S., Dörr S., Hagemann M., Preiss U., Hansmann I. Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7. Medgen. 11:(143):1999;1-13.
-
(1999)
Medgen
, vol.11
, Issue.143
, pp. 1-13
-
-
Hehr, U.1
Brömme, S.2
Dörr, S.3
Hagemann, M.4
Preiss, U.5
Hansmann, I.6
-
11
-
-
0028111681
-
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
-
Höglund P., Holmberg C., De La Chapelle A., Kere J. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am. J. Hum. Genet. 55:1994;747-752.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 747-752
-
-
Höglund, P.1
Holmberg, C.2
De La Chapelle, A.3
Kere, J.4
-
12
-
-
0029852041
-
Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases
-
Kalousek D.K., Langlois S., Robinson W.P. Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases. J. Med. Genet. 65:1996;348-352.
-
(1996)
J. Med. Genet.
, vol.65
, pp. 348-352
-
-
Kalousek, D.K.1
Langlois, S.2
Robinson, W.P.3
-
13
-
-
13144259703
-
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
-
Karadima G., Bugge M., Nicolaidis P., Vassiolopoulos D., Avramopoulos D., Grigoriadou M., Albrecht A., Passarge E., Anneren G., Blennow E., Clausen N., Galla-Voumvouraki G., Ank Tsezou A., Kitsiou-Tzel S., Hahnemann J., Hertz J.M., Houge G., Kuklik M., Macek M., Lacvombe D., Miller K., Moncla A., Pajares I.L., Patsalis P.C., Prieur M., Vekemans M., Von Beust G., Brondum-Nielsen K., Petersen M.B. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur. J. Hum. Genet. 6:1995;432-438.
-
(1995)
Eur. J. Hum. Genet.
, vol.6
, pp. 432-438
-
-
Karadima, G.1
Bugge, M.2
Nicolaidis, P.3
Vassiolopoulos, D.4
Avramopoulos, D.5
Grigoriadou, M.6
Albrecht, A.7
Passarge, E.8
Anneren, G.9
Blennow, E.10
Clausen, N.11
Galla-Voumvouraki, G.12
Ank Tsezou, A.13
Kitsiou-Tzel, S.14
Hahnemann, J.15
Hertz, J.M.16
Houge, G.17
Kuklik, M.18
Macek, M.19
Lacvombe, D.20
Miller, K.21
Moncla, A.22
Pajares, I.L.23
Patsalis, P.C.24
Prieur, M.25
Vekemans, M.26
Von Beust, G.27
Brondum-Nielsen, K.28
Petersen, M.B.29
more..
-
14
-
-
0028914364
-
Uniparental disomy in Silver-Russell syndrome and primordial growth retardation
-
Kotzot D., Schmitt S., Bernasconi F., Robinson W.P., Lurie W.P., Ilyina H., Mehes K., Hamel B.C.J., Otten B.J., Hergersberger M., Werder E., Schoenle E., Schinzel A.A. Uniparental disomy in Silver-Russell syndrome and primordial growth retardation. Hum. Mol. Genet. 4:1995;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, W.P.5
Ilyina, H.6
Mehes, K.7
Hamel, B.C.J.8
Otten, B.J.9
Hergersberger, M.10
Werder, E.11
Schoenle, E.12
Schinzel, A.A.13
-
15
-
-
0033613977
-
Abnormal phenotype in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
-
Kotzot D. Abnormal phenotype in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am. J. Med. Genet. 82:1999;265-274.
-
(1999)
Am. J. Med. Genet.
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
16
-
-
0028867372
-
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
-
Langlois S., Yong S.L., Wilson R.D., Kwong L.C., Kalousek D.K. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J. Med. Genet. 32:1995;871-875.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 871-875
-
-
Langlois, S.1
Yong, S.L.2
Wilson, R.D.3
Kwong, L.C.4
Kalousek, D.K.5
-
17
-
-
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 putative SRS gene from a 7p13-q11 region
-
Miyoshi O., Kondoh T., Taneda H., Otsuka K., Matsumoto T., Niikawa N. 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 putative SRS gene from a 7p13-q11 region. J. Med. Gen. 36:1999;326-329.
-
(1999)
J. Med. Gen.
, vol.36
, pp. 326-329
-
-
Miyoshi, O.1
Kondoh, T.2
Taneda, H.3
Otsuka, K.4
Matsumoto, T.5
Niikawa, N.6
-
18
-
-
0031778075
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
Pan Y., McCaskill C.D., Thompson K.H., Hicks J., Casey B., Shaffer L.G., Craigen W.J. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am. J. Hum. Genet. 62:1998;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
-
19
-
-
0033042181
-
An analysis of the distribution of hetero- And isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
-
Preece M., Abu-Amero S.N., Ali Z., Abu-Amero K.K., Wakeling E.L., Stanier P., Moore G.E. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J. Med. Genet. 36:1999;457-460.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 457-460
-
-
Preece, M.1
Abu-Amero, S.N.2
Ali, Z.3
Abu-Amero, K.K.4
Wakeling, E.L.5
Stanier, P.6
Moore, G.E.7
-
20
-
-
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. 57S:1996;A284.
-
(1996)
Am. J. Hum. Genet.
, vol.57
, pp. 284
-
-
Shuman, C.1
Weksberg, R.2
Nedelscu, R.3
Northey, A.4
Scherer, S.5
-
21
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence E.J., Periaccante R.G., Greig G.M., Willard H.F., Ledbetter D.H., Hejtmancik J.F., Pollack M.S., O'Brian W.E., Beaudet A.L. Uniparental disomy as a mechanism for human genetic disease. Am. J. Hum. Genet. 42:1988;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.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brian, W.E.8
Beaudet, A.L.9
-
22
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with mutation at the COL1A2 locus
-
Spotila L.D., Sereda L., Prockop D.J. Partial isodisomy for maternal chromosome 7 and short stature in an individual with mutation at the COL1A2 locus. Am. J. Hum. Genet. 51:1992;1296-1405.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1296-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prockop, D.J.3
-
23
-
-
0342650399
-
Uniparental disomy 7 in Silver-Russell syndrome
-
Tariverdian G., Voigtländer T., Emmerich D., Bernasconi F., Schinzel A. Uniparental disomy 7 in Silver-Russell syndrome. Med. Genet. 1:1996;W9-25.
-
(1996)
Med. Genet.
, vol.1
, pp. 9-25
-
-
Tariverdian, G.1
Voigtländer, T.2
Emmerich, D.3
Bernasconi, F.4
Schinzel, A.5
-
24
-
-
0024463137
-
Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R., Ben-Simon E., Avital A. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am. J. Hum. Genet. 45:1989;338-373.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 338-373
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
-
25
-
-
0028827636
-
Growth and symptomes in Silver-Russell syndrome: Review on the basis of 386 patients
-
Wollmann H.A., Kirchner T., Enders H., Preece M.A., Ranke M.B. Growth and symptomes in Silver-Russell syndrome: review on the basis of 386 patients. Eur. J. Pediatr. 154:1995;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
-
26
-
-
0029950129
-
Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: Their incidences, likely origins and mechanisms for cell lineage compartimenalization
-
Wolstenholme J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidences, likely origins and mechanisms for cell lineage compartimenalization. Prenat. Diagn. 16:1996;511-524.
-
(1996)
Prenat. Diagn.
, vol.16
, pp. 511-524
-
-
Wolstenholme, J.1
-
27
-
-
0027937004
-
Non-disjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns
-
Zaragoza M.V., Jacobs P.A., James R.S., Rogan P., Sherman S., Hassold T. Non-disjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum. Genet. 94:1994;411-417.
-
(1994)
Hum. Genet.
, vol.94
, pp. 411-417
-
-
Zaragoza, M.V.1
Jacobs, P.A.2
James, R.S.3
Rogan, P.4
Sherman, S.5
Hassold, T.6
-
28
-
-
0031791685
-
Studies of nondisjunction in trisomies 2, 7, 15 and 22: Does the parental origin of trisomy influence placental morphology?
-
Zaragoza M.V., Millie E., Redline R.W., Hassold T.J. Studies of nondisjunction in trisomies 2, 7, 15 and 22: does the parental origin of trisomy influence placental morphology? J. Med. Genet. 35:1998;924-931.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 924-931
-
-
Zaragoza, M.V.1
Millie, E.2
Redline, R.W.3
Hassold, T.J.4
|