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Volumn 60, Issue 3, 2001, Pages 226-231

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region

(1) Kotzot, D a,b

a TECHNICAL UNIVERSITY OF MUNICH (Germany)

b TECHNICAL UNIVERSITY OF MUNICH (Germany)

Author keywords

Genomic imprinting; Heterodisomy; Isodisomy; Maternal uniparental disomy 14

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHILD; CHROMOSOME 12; CHROMOSOME 14Q; CHROMOSOME STRUCTURE; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION FUNCTION; FEMALE; GENOME IMPRINTING; HUMAN; HYPOTHESIS; INFANT; MEDICAL LITERATURE; MOLECULAR GENETICS; MOTHER; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PUBLICATION; SYNTENY; UNIPARENTAL DISOMY;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; DATABASES; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MEDLINE; MOTHERS; PHENOTYPE; SOFTWARE; UNIPARENTAL DISOMY;

EID: 0034774633 PISSN: 00099163 EISSN: None Source Type: Journal
DOI: 10.1034/j.1399-0004.2001.600309.x Document Type: Article

Times cited : (9)

References (37)

1
- 0018939994
- A new genetic concept: Uniparental disomy and its potential effect, isodisomy
- (1980) Am J Med Genet , vol.6 , pp. 137-143
- Engel, E.¹

2
- 0034098812
- Mechanisms leading to uniparental disomy and their clinical consequences
- (2000) BioEssays , vol.22 , pp. 452-459
- Robinson, W.P.¹

3
- 0031970998
- Prader-Willi and Angelman syndromes. Disorders of genomic imprinting
- (1998) Medicine , vol.77 , pp. 140-151
- Cassidy, S.B.¹ Schwartz, S.²

4
- 0028914364
- Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
- (1995) Hum Mol Genet , vol.4 , pp. 583-587
- Kotzot, D.¹ Schmitt, S.² Bernasconi, F.³

5
- 0027793754
- Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: A post-fertilization event
- (1993) Eur J Hum Genet , vol.1 , pp. 19-29
- Henry, I.¹ Puech, A.² Riesewijk, A.³

6
- 0033504298
- Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
- (1999) J Pediatr , vol.134 , pp. 689-695
- Fokstuen, S.¹ Ginsburg, C.² Zachmann, M.³ Schinzel, A.⁴

7
- 0034726689
- Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
- (2000) Am J Med Genet , vol.93 , pp. 381-387
- Sutton, V.R.¹ Shaffer, L.G.²

8
- 0033042181
- An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD 7 Silver-Russell syndrome probands
- (1999) J Med Genet , vol.36 , pp. 457-460
- Preece, M.A.¹ Abu-Amero, S.N.² Ali, Z.³ Abu-Amero, K.K.⁴ Wakeling, E.L.⁵ Stanier, P.⁶ Moore, G.⁷

9
- 0033022634
- An analysis of common isodisomic regions in five mUPD 16 probands
- (1999) J Med Genet , vol.36 , pp. 204-207
- Abu-Amero, S.N.¹ Ali, Z.² Abu-Amero, K.K.³ Stanier, Ph.⁴ Moore, G.E.⁵

10
- 6744221197
- Identification of an imprinted gene, Meg3/Gtl2 and its human homologue MEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q
- (2000) Genes Cells , vol.5 , pp. 211-220
- Miyoshi, N.¹ Wagatsuma, H.² Wakana, S.³

11
- 0034663920
- The Dlk1 and Gtl2 genes are linked and reciprocally imprinted
- (2000) Genes Dev , vol.14 , pp. 1997-2002
- Schmidt, J.V.¹ Matteson, P.G.² Jones, B.K.³ Guan, X.J.⁴ Tilgham, S.M.⁵

12
- 0034053840
- A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY
- (2000) Clin Genet , vol.57 , Issue.5 , pp. 406-408
- Manzoni, M.¹ Pramparo, T.² Chiaino, F.³ Bosi, E.⁴ Zuffardi, O.⁵ Carrozzo, R.⁶

13
- 0033922327
- Maternal uniparental heterodisomy of chromosome 14: Chromosomal mechanism and clinical follow up
- (2000) J Med Genet , vol.37 , pp. 525-528
- Sanlaville, D.¹ Aubry, M.C.² Dumez, Y.³

14
- 0033531969
- Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
- (1999) Am J Med Genet , vol.84 , pp. 76-79
- Berend, M.J.W.¹ Hordijk, R.² Oosterwijk, J.C.³ Halley, D.J.J.⁴ Sorgedrager, N.⁵

15
- 0032850551
- Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
- (1999) J Med Genet , vol.36 , pp. 782-785
- Hordijk, R.¹ Wierenga, H.² Scheffer, H.³ Leegte, B.⁴ Hofstra, R.M.W.⁵ Stolte-Dijkstra, I.⁶

16
- 0001564674
- UPD risk assessment: Three cytogenetic subgroups
- (1999) Am J Hum Genet , vol.65 , Issue.SUPPL. , pp. 1996
- Papenhausen, P.R.¹ Tepperberg, J.H.² Mowrey, P.N.³

17
- 0032999595
- Maternal uniparental isodisomy for chromosome 14 detected prenatally
- (1999) Prenat Diagn , vol.19 , pp. 681-684
- Ralph, A.¹ Scott, F.² Tiernan, C.³

18
- 0002761766
- Risk of uniparental disomy in Robertsonian translocation carriers: Identification of UPD14 in a small cohort
- (1998) Am J Hum Genet , vol.63 , Issue.SUPPL. , pp. 51
- Harrison, K.J.¹ Allingham-Hawkins, D.J.² Hummel, J.³

19
- 0031616236
- Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
- (1998) J Hum Genet , vol.43 , pp. 138-142
- Miyoshi, O.¹ Hayashi, S.² Fujimoto, M.³ Tomita, H.⁴ Sohda, M.⁵ Niikawa, N.⁶

20
- 0000106787
- Maternal uniparental disomy for chromosome 14
- (1997) Am J Hum Genet , vol.61 , Issue.SUPPL. , pp. 691
- Desilets, V.A.¹ Yong, S.L.² Kalousek, D.K.³

21
- 0031576246
- Another case of maternal uniparental disomy chromosome 14 syndrome
- (1997) Am J Med Genet , vol.72 , pp. 239-240
- Splitt, M.P.¹ Goodship, J.A.²

22
- 0000106786
- Maternal uniparental disomy of chromosome 14 in an infant with mild dysmorphology and confined placental mosaicism
- (1997) Am J Hum Genet , vol.61 , Issue.SUPPL. , pp. 2222
- Walgenbach, D.D.¹ Yang, S.P.² McCaskill, C.³ Shaffer, L.G.⁴ Towner, D.R.⁵

23
- 0000909603
- Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: Analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier
- (1996) Am J Hum Genet , vol.59 , Issue.SUPPL. , pp. 687
- Barton, D.E.¹ McQuaid, S.² Stallings, R.³ Griffin, E.⁴ Geraghty, M.⁵

24
- 0029767477
- Maternal uniparental disomy for chromosome 14
- (1996) Acta Geneticae et Gemellologicae , vol.45 , Issue.1-2 , pp. 169-172
- Coviello, D.A.¹ Panucci, E.² Mantero, M.M.³

25
- 0000909602
- Maternal uniparental disomy for chromosome 14
- (1996) Am J Hum Genet , vol.59 , Issue.SUPPL. , pp. 687
- Link, L.¹ McMilin, K.² Popovich, B.³ Magenis, R.E.⁴

26
- 0030016132
- Maternal uniparental isodisomy of chromosome 14 associated with a paternal t(13q14q) and precocious puberty
- (1996) Eur J Hum Genet , vol.4 , Issue.3 , pp. 153-159
- Tomkins, D.J.¹ Roux, A.F.² Waye, J.³ Freeman, V.C.⁴ Cox, D.W.⁵ Whelan, D.T.⁶

27
- 0028794035
- Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
- (1995) Am J Med Genet , vol.59 , pp. 271-275
- Papenhausen, P.R.¹ Müller, O.T.² Johnson, V.P.³ Sutcliffe, M.⁴ Diamond, Th.M.⁵ Kousseff, B.G.⁶

28
- 0028228209
- Distinct phenotype in maternal uniparental disomy of chromosome 14
- (1994) Am J Med Genet , vol.51 , pp. 147-149
- Healey, S.¹ Powell, F.² Battersby, M.³ Chenevix-Trench, G.⁴ McGill, J.⁵

29
- 0028147431
- A somatic origin of homologous robertsonian translocations and isochromosomes
- (1994) Am J Hum Genet , vol.54 , pp. 290-302
- Robinson, W.P.¹ Bernasconi, F.² Basaran, S.³

30
- 0028094977
- Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX, + 14 karyotype
- (1994) Hum Genet , vol.94 , pp. 355-358
- Sirchia, S.M.¹ De Andreis, Ch.² Pariani, S.³

31
- 0027426276
- Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14
- (1993) Am J Hum Genet , vol.52 , pp. 1145-1152
- Antonarakis, S.E.¹ Blouin, J.-L.² Maher, J.³ Avramopoulos, D.⁴ Thomas, G.⁵ Talbot, C.C.⁶

32
- 0026574487
- Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
- (1992) Am J Hum Genet , vol.50 , pp. 690-699
- Pentao, L.¹ Lewis, R.A.² Ledbetter, D.H.³ Patel, P.I.⁴ Lupski, J.R.⁵

33
- 0025866731
- Maternal uniparental disomy for chromosome 14
- (1991) J Med Genet , vol.28 , pp. 511-514
- Temple, I.K.¹ Cockwwell, A.² Hassold, T.³ Pettay, D.⁴ Jacobs, P.⁵

34
- 0032773936
- Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
- (1999) J Med Genet , vol.36 , pp. 633-636
- Martin, R.A.¹ Sabol, D.W.² Rogan, P.K.³

35
- 0035105118
- Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal upd (20) in a cohort of growth-retarded patients
- (2001) J Med Genet , vol.38 , pp. 86-89
- Eggermann, T.¹ Mergenthaler, S.² Eggermann, K.³

36
- 0031680270
- Parental origin effects in human trisomy for chromosome 14q: Implications for genomic imprinting
- (1998) J Med Genet , vol.35 , pp. 821-824
- Georgiades, P.¹ Chierakul, C.² Ferguson-Smith, A.C.³

37
- 0002246574
- Genomic imprinting in the mouse: Possible final analysis
- Reik W, Surani A, eds. Oxford: IRL Press
- (1997) Genomic Imprinting , pp. 118-145
- Cattanach, B.M.¹ Beechey, C.V.²

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