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(2003)
Maternal Aging and Chromosome Abnormalities: New Data Drawn from In vitro
F. Pellestor, B. Andréo, F. Arnal, C. Humeau, J. Demaille (2003)
Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytesHuman Genetics, 112
C. Junien (1996)
Wiedman-Beckwith syndrome, tumorigenesis and imprinting.Acta geneticae medicae et gemellologiae, 45 1-2
D. Kotzot (2002)
Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.American journal of medical genetics, 111 4
J. Kohlhase, B. Janssen, K. Weidenauer, K. Harms, I. Bartels (2000)
First confirmed case with paternal uniparental disomy of chromosome 16.American journal of medical genetics, 91 3
D. Opstal, C. Berg, W. Deelen, H. Brandenburg, T. Cohen-Overbeek, D. Halley, A. Ouweland, Peter Veld, F. Los (1998)
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomyPrenatal Diagnosis, 18
Q. Shi, R.H. Martin (2000)
Aneuploidy in Human Sperm: A Review of the Frequency and Distribution of Aneuploidy, Effects of Donor Age and Lifestyle FactorsCytogenet. Cell Genet., 90
P. Rogan, P. Rogan, Darrin Sabol, Hope Punnett (1999)
Maternal uniparental disomy of chromosome 21 in a normal child.American journal of medical genetics, 83 1
T. Hassold, N. Chen, J. Funkhouser, T. Jooss, B. Manuel, J. Matsuura, A. Matsuyama, CAROLA Wilson, J. Yamane, P. Jacobs (1980)
A cytogenetic study of 1000 spontaneous abortionsAnnals of Human Genetics, 44
N. Spinner, E. Rand, D. McDonald-McGinn (1994)
Paternal uniparental isodisomy for human chromosome 20 and absence of external earsAmerican Journal of Human Genetics, 55
E. Heide, K. Heide, A. Rodewald (2000)
Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity.American journal of medical genetics, 92 4
D. Henderson, L. Sherman, S. Loughna, P. Bennett, G. Moore (1994)
Early embryonic failure associated with uniparental disomy for human chromosome 21.Human molecular genetics, 3 8
V. Velissariou, T. Antoniadi, J. Gyftodimou, K. Bakou, M. Grigoriadou, S. Christopoulou, A. Hatzipouliou, J. Donoghue, Panagiotis Karatzis, E. Katsarou, M. Petersen (2002)
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysisEuropean Journal of Human Genetics, 10
(1998)
Seven Cases of WiedemannBeckwith Syndrome , Including the First Reported Case of Mosaic Paternal Isodisomy along the Whole Chromosome 11 , Am
Evdokimov Vn, Nazarenko Sa (2000)
[The absence of uniparental X-chromosome inheritance in spontaneous abortuses with a 46,XX karyotype].Russian Journal of Developmental Biology, 31
Bernd Brinkmann, M. Klintschar, F. Neuhuber, J. Hühne, B. Rolf (1998)
Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.American journal of human genetics, 62 6
B. Cattanach, J. Jones (1994)
Genetic imprinting in the mouse: Implications for gene regulationJournal of Inherited Metabolic Disease, 17
J. Sutcliffe, M. Nakao, S. Christian, K. Örstavik, N. Tommerup, D. Ledbetter, A. Beaudet (1994)
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionNature Genetics, 8
J. Wolstenholme, I. White, S. Sturgiss, J. Carter, N. Plant, J. Goodship (2001)
Maternal uniparental heterodisomy for chromosome 2: detection through ‘atypical’ maternal AFP/hCG levels, with an update on a previous casePrenatal Diagnosis, 21
L. Shaffer, C. McCaskill, K. Adkins, Terry Hassold (1998)
Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature.American journal of medical genetics, 79 5
I. Morison, A. Reeve (1998)
A catalogue of imprinted genes and parent-of-origin effects in humans and animals.Human molecular genetics, 7 10
K. McLaughlin, P. Szabó, H. Haegel, J. Mann (1996)
Mouse embryos with paternal duplication of an imprinted chromosome 7 region die at midgestation and lack placental spongiotrophoblast.Development, 122 1
F. Bernasconi, A. Karagüzel, F. Celep, I. Keser, G. Luleci, F. Dutly, A. Schinzel (1996)
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)American journal of human genetics, 59 5
J. Wolstenholme, I. White, S. Sturgiss (2001)
Maternal Uniparental Heterodisomy for Chromosome 2: Detection through "Atypical" Maternal AFP/HCG Levels, with an Update on a Previous CaseAm. J. Med. Genet., 21
I. Salafsky, S. MacGregor, U. Claussen, F. Eggeling (2001)
Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20Prenatal Diagnosis, 21
S. Murphy, R. Jirtle (2003)
Imprinting evolution and the price of silence.BioEssays : news and reviews in molecular, cellular and developmental biology, 25 6
I. Boccaccio, Heather Glatt-Deeley, F. Watrin, Nathalie Roëckel, M. Lalande, F. Muscatelli (1999)
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.Human molecular genetics, 8 13
C.A. Williams, H. Angelman, J. Clayton-Smith (1995)
Angelman Syndrome: Consensus for Diagnostic Criteria. Angelman Syndrome FoundationAm. J. Med. Genet., 56
A. Webb, S. Sturgiss, P. Warwicker, S. Robson, J. Goodship, J. Wolstenholme (1996)
MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 AND SEVERE INTRAUTERINE GROWTH RETARDATIONPrenatal Diagnosis, 16
(2002)
Structure of Chromosome Defects in 552 Spontaneous Abortuses in the Tomsk Population, Med
P. Yong, S. Marion, I. Barrett, D. Kalousek, W. Robinson (2002)
Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies.American journal of medical genetics, 112 2
V.N. Evdokimova, S.A. Nazarenko (2000)
Absence of Uniparental Inheritance of X-Chromosomes in Spontaneous Abortuses with 46,XX KaryotypeOntogenez, 31
D. Ledbetter, E. Engel (1995)
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.Human molecular genetics, 4 Spec No
D. Kalousek, I. Barrett (1994)
Genomic imprinting related to prenatal diagnosisPrenatal Diagnosis, 14
Apiwat Mutirangura, Frank Greenberg, M. Butler, Sue Malcolm, R. Nicholls, Aravinda Chakravarti, David Ledbetter (1993)
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.Human molecular genetics, 2 2
Charles, Williams, H. Angelman, J. Clayton-Smith, D. Driscoll, J. Hendrickson, Joan, M. H., Knoll, R. Magenis, A. Schinzel, J. Wagstaff, Elaine, M., midden, R. Zori (1995)
Angelman syndrome: Consensus for diagnostic criteriaAmerican Journal of Medical Genetics, 56
Xin Xu, Mei Peng, Z. Fang, Xiping Xu (2000)
The direction of microsatellite mutations is dependent upon allele lengthNature Genetics, 24
V. Evdokimova, S. Nazarenko (2000)
[The absence of uniparental X-chromosome inheritance in spontaneous abortuses with a 46,XX karyotype].Ontogenez, 31 3
D. Warburton, A. Kinney (1996)
Chromosomal differences in susceptibility to meiotic aneuploidyEnvironmental and Molecular Mutagenesis, 28
Laurence Hurst, G. McVean (1997)
Growth effects of uniparental disomies and the conflict theory of genomic imprinting.Trends in genetics : TIG, 13 11
F. Dutly, A. Baumer, H. Kayserili, M. Yuksel-Apak, T. Zerova, G. Hebisch, A. Schinzel (1998)
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.American journal of medical genetics, 79 5
Debra Thompson, C. McHenry, Yun Li, J. Richards, M. Othman, E. Schwinger, D. Vollrath, S. Jacobson, A. Gal (2002)
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.American journal of human genetics, 70 1
Y. Kuroiwa, T. Kaneko-Ishino, F. Kagitani, T. Kohda, Li-Lan Li, M. Tada, R. Suzuki, M. Yokoyama, T. Shiroishi, S. Wakana, S. Barton, F. Ishino, M. Surani (1996)
Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger proteinNature Genetics, 12
I. Chudoba, Y. Franke, G. Senger, G. Sauerbrei, S. Demuth, V. Beensen, A. Neumann, I. Hansmann, U. Claussen (1999)
Maternal UPD 20 in a hyperactive child with severe growth retardationEuropean Journal of Human Genetics, 7
E. Engel, C. Delozier‐Blanchet (1991)
Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection.American journal of medical genetics, 40 4
R. Mahmood, C. Brierley, M. Faed, J. Mills, J. Delhanty (2000)
Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conceptionHuman Genetics, 106
(2002)
Struc - ture of Chromosome Defects in 552 Spontaneous Abortuses in the Tomsk Population
Thomas Eggermann, S. Mergenthaler, K. Eggermann, Alexandra Albers, K. Linnemann, C. Fusch, M. Ranke, H. Wollmann (2001)
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patientsJournal of Medical Genetics, 38
J.-C. Wang, M. Passage, P. Yen, L. Shapiro, T. Mohandas (1991)
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.American journal of human genetics, 48 6
E. Engel, C.D. DeLozier-Blanchet (1991)
Uniparental Disomy, Isodisomy, and Imprinting: Probable Effects in Man and Strategies for Their DetectionsAm. J. Hum. Genet., 40
B. Fritz, M. Aslan, V. Kalscheuer, M. Ramsing, K. Saar, Brigitte Fuchs, H. Rehder (2001)
Low incidence of UPD in spontaneous abortions beyond the 5th gestational weekEuropean Journal of Human Genetics, 9
T. Sulisalo, O. Mäkitie, P. Sistonen, M. Ridanpää, W. El-Rifai, O. Ruuskanen, A. Chapelle, I. Kaitila (1997)
Uniparental Disomy in Cartilage-Hair HypoplasiaEuropean Journal of Human Genetics, 5
V. Evdokimova, T. Nikitina, I. Lebedev, N. Sukhanova, S. Nazarenko (2000)
[Sex ratio in early embryonal mortality in man].Ontogenez, 31 4
B. Eiben, I. Bartels, Susan Bahr-Porsch, S. Borgmann, G. Gatz, Gaby Goebel, W. Hammans, Martha, HentemannJ, Rudiger, Osmerst, ROdiger Rauskolb, Ingo Hansmannt (1990)
Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage.American journal of human genetics, 47 4
T. Wilkinson, R. James, J. Crolla, A. Cockwell, P. Campbell, I. Temple (1996)
A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9Prenatal Diagnosis, 16
C. Prows, R. Hopkin (1999)
Prader Willi and Angelman syndromes: exemplars of genomic imprinting.The Journal of perinatal & neonatal nursing, 13 2
W. Robinson, I. Barrett, L. Bernard, A. Telenius, F. Bernasconi, R. Wilson, R. Best, P. Howard‐Peebles, S. Langlois, D. Kalousek (1997)
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.American journal of human genetics, 60 4
J. Clayton-Smith, L. Laan (2003)
Angelman syndrome: a review of the clinical and genetic aspectsJournal of Medical Genetics, 40
Todd Gray, Shinji Saitoh, Robert Nicholls (1999)
An imprinted, mammalian bicistronic transcript encodes two independent proteins.Proceedings of the National Academy of Sciences of the United States of America, 96 10
M. Bastepe, Andrew Lane, H. Jüppner (2001)
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.American journal of human genetics, 68 5
A. Webb, J. Beard, C. Wright, S. Robson, J. Wolstenholme, J. Goodship (1995)
A case of paternal uniparental disomy for chromosome 11Prenatal Diagnosis, 15
J. Blouin, D. Avramopoulos, C. Pangalos, S. Antonarakis (1993)
Normal phenotype with paternal uniparental isodisomy for chromosome 21.American journal of human genetics, 53 5
Q. Shi, Renée Martin (2000)
Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factorsCytogenetic and Genome Research, 90
H. Slater, Adrianne Ralph, A. Daniel, Sharron Worthington, Cynthia Roberts (2000)
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomyPrenatal Diagnosis, 20
M. Jong, M. Jong, T. Gray, Yonggang Ji, C. Glenn, S. Saitoh, D. Driscoll, R. Nicholls (1999)
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.Human molecular genetics, 8 5
(2000)
On Sex Ratio upon Early Embryolethality in Man
Martin Smith, M. Creasy, A. Clarke, M. Upadhyaya (1998)
Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotypeClinical Genetics, 53
WENDY Hansen, L. Bernard, S. Langlois, K. Rao, N. Chescheir, A. Aylsworth, D. Smith, W. Robinson, I. Barrett, D. Kalousek (1997)
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOSPrenatal Diagnosis, 17
R. Nicholls, Jessica Knepper (2001)
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.Annual review of genomics and human genetics, 2
We carried out systematic studies of the contribution of uniparental disomy for eight human chromosomes, 2, 9, 11, 15, 16, 19, 20, and 21, to the etiology of embryolethality. Most of these chromosomes have regions with orthologous imprinted genes syntenic with those on mouse chromosomes, the disturbed expression of which is related to embryolethality in mice. Screening of uniparental disomy in spontaneous abortuses of 5–16 weeks of pregnancy was performed by evaluation of the pattern of inheritance of alleles of polymorphic microsatellite loci located in the studied chromosomes. A total of 100 human embryos with cytogenetically determined normal karyotype were studied, in which arrest at the early stages of intrauterine development was determined by ultrasound examination of pregnant women. During this study, 13 embryos were discarded due to revealed karyotype anomalies or nonpaternity. No cases of uniparental disomy were found among the 87 studied abortuses for any of chromosomes studied. The analysis of the results of this study and four other studies concerning the search for uniparental disomy in dead embryos and fetuses did not reveal its elevated frequency in spontaneous abortuses as compared to the theoretically expected value based on evaluation of the probable combination of meiotic errors in human gametes. The data we obtained suggest that, first, uniparental disomies for human chromosomes that have regions with orthologous imprinted genes syntenic with mouse chromosomes do not contribute noticeably to the death of human embryos at the early developmental stages and, second, the mechanisms underlying embryolethality as a result of disturbed expression of imprinted loci differ markedly in evolutionarily remote mammals.
Russian Journal of Developmental Biology – Springer Journals
Published: Sep 19, 2004
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