Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.

PubWeight™: 0.86‹?›

🔗 View Article (PMID 9178319)

Published in Prenat Diagn on May 01, 1997

Authors

W F Hansen1, L E Bernard, S Langlois, K W Rao, N C Chescheir, A S Aylsworth, D I Smith, W P Robinson, I J Barrett, D K Kalousek

Author Affiliations

1: Department of Obstetrics and Gynaecology, University of North Carolina at Chapel Hill, USA.

Articles by these authors

Plasmid-determined resistance to antimicrobial agents. Annu Rev Microbiol (1978) 8.35

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell (1997) 7.47

HLA and insulin gene associations with IDDM. Genet Epidemiol (1989) 6.53

Role for the p53 homologue p73 in E2F-1-induced apoptosis. Nature (2000) 3.83

Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet (2000) 3.33

The isolation and partial characterization of a new restriction endonuclease from Providencia stuartii. Nucleic Acids Res (1976) 3.30

Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet (1988) 2.88

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet (1992) 2.41

Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet (1995) 2.39

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet (1995) 2.30

Heterogeneity in vaccine immune response: the role of immunogenetics and the emerging field of vaccinomics. Clin Pharmacol Ther (2007) 2.17

Evidence for multi-site closure of the neural tube in humans. Am J Med Genet (1993) 2.16

Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia. Placenta (2010) 2.09

Role of PI3K signaling in survival and progression of LNCaP prostate cancer cells to the androgen refractory state. Endocrinology (2001) 2.00

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res (1998) 1.99

PTEN/MMAC1 mutations identified in small cell, but not in non-small cell lung cancers. Oncogene (1998) 1.98

Genetic studies of autistic disorder and chromosome 7. Genomics (1999) 1.94

Effect of low proscribed blood alcohol levels (BALs) on traffic accidents among newly-licensed drivers. Med Sci Law (1986) 1.90

The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. Proc Natl Acad Sci U S A (1998) 1.86

FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites. Hum Mol Genet (1996) 1.84

Human papillomavirus type 16 integrations in cervical tumors frequently occur in common fragile sites. Cancer Res (2000) 1.82

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78

Genetic analysis of early- versus late-stage ovarian tumors. Cancer Res (2001) 1.77

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn (1991) 1.77

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76

First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A (2005) 1.68

Chromosomal mosaicism confined to the placenta in human conceptions. Science (1983) 1.67

Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction. Hum Mol Genet (1998) 1.65

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet (1995) 1.65

Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers. Oncogene (2003) 1.63

Regional localization of chromosome 3-specific DNA fragments by using a hybrid cell deletion mapping panel. Am J Hum Genet (1988) 1.58

Gene expression pattern associated with radiotherapy sensitivity in cervical cancer. Cancer J (2006) 1.57

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet (1998) 1.57

Dysregulation of microRNA-204 mediates migration and invasion of endometrial cancer by regulating FOXC1. Int J Cancer (2011) 1.56

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet (1995) 1.55

Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod (2002) 1.55

Chromosome abnormalities of eighty-one pediatric germ cell tumors: sex-, age-, site-, and histopathology-related differences--a Children's Cancer Group study. Genes Chromosomes Cancer (1999) 1.53

Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet (2000) 1.50

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49

Chromosome analysis of human oocytes failing to fertilize in vitro. Fertil Steril (1989) 1.47

Intrachromosomal triplication of 15q11-q13. J Med Genet (1994) 1.43

Identification of molecular markers and signaling pathway in endometrial cancer in Hong Kong Chinese women by genome-wide gene expression profiling. Oncogene (2006) 1.42

Absent cavum with intact septum pellucidum and corpus callosum may indicate midline brain abnormalities. Ultrasound Obstet Gynecol (2013) 1.41

Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24. Genomics (1999) 1.41

A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects Orig Artic Ser (1978) 1.40

A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. Am J Hum Genet (1988) 1.39

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet (1999) 1.39

Phenotype of maternal UPD(14) Am J Med Genet (1996) 1.38

The dynamics of X-inactivation skewing as women age. Clin Genet (2004) 1.37

Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet (1993) 1.34

Activation of p73 silent allele in lung cancer. Cancer Res (1998) 1.33

Uniparental disomy for chromosome 16 in humans. Am J Hum Genet (1993) 1.33

Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet (1993) 1.32

The characterization of the common fragile site FRA16D and its involvement in multiple myeloma translocations. Genomics (2000) 1.31

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet (1995) 1.30

Evaluating DNA methylation and gene expression variability in the human term placenta. Placenta (2010) 1.30

Phenotype of triploid embryos. J Med Genet (2005) 1.27

Carboxypeptidase A3 (CPA3): a novel gene highly induced by histone deacetylase inhibitors during differentiation of prostate epithelial cancer cells. Cancer Res (1999) 1.25

The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet (2000) 1.24

Adult patients with de novo acute myeloid leukemia and t(9; 11)(p22; q23) have a superior outcome to patients with other translocations involving band 11q23: a cancer and leukemia group B study. Blood (1997) 1.23

Allele-specific late replication and fragility of the most active common fragile site, FRA3B. Hum Mol Genet (1999) 1.23

The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet (1999) 1.21

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. Am J Hum Genet (1997) 1.21

FRA7G extends over a broad region: coincidence of human endogenous retroviral sequences (HERV-H) and small polydispersed circular DNAs (spcDNA) and fragile sites. Oncogene (1998) 1.21

Human acid ceramidase is overexpressed but not mutated in prostate cancer. Genes Chromosomes Cancer (2000) 1.20

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. Am J Hum Genet (2002) 1.20

Overexpression of the wild type p73 gene in human bladder cancer. Oncogene (1999) 1.18

Loss of heterozygosity on the long arm of human chromosome 7 in sporadic renal cell carcinomas. Oncogene (1997) 1.17

Long-term marrow culture reveals chromosomally normal hematopoietic progenitor cells in patients with Philadelphia chromosome-positive chronic myelogenous leukemia. N Engl J Med (1983) 1.17

Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet (1994) 1.16

Unregulated proliferation of primitive chronic myeloid leukemia progenitors in the presence of normal marrow adherent cells. Proc Natl Acad Sci U S A (1986) 1.16

Non-random inactivation of large common fragile site genes in different cancers. Cytogenet Genome Res (2007) 1.15

Frequent breakpoints in the 3p14.2 fragile site, FRA3B, in pancreatic tumors. Cancer Res (1996) 1.15

Reduced recombination and paternal age effect in Klinefelter syndrome. Hum Genet (1992) 1.15

RORA, a large common fragile site gene, is involved in cellular stress response. Oncogene (2006) 1.14

Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet (1989) 1.14

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet (1997) 1.12

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet (1998) 1.12

Keratin 23 (K23), a novel acidic keratin, is highly induced by histone deacetylase inhibitors during differentiation of pancreatic cancer cells. Genes Chromosomes Cancer (2001) 1.12

Activation of the extracellular signal-regulated protein kinase (ERK) cascade by membrane-type-1 matrix metalloproteinase (MT1-MMP). FEBS Lett (2001) 1.11

Cloning and characterization of a senescence inducing and class II tumor suppressor gene in ovarian carcinoma at chromosome region 6q27. Oncogene (2001) 1.11

Loss of expression of a new member of the DNAJ protein family confers resistance to chemotherapeutic agents used in the treatment of ovarian cancer. Cancer Res (2001) 1.10

Impact on traffic safety of the introduction of Sunday alcohol sales in Perth, Western Australia. J Stud Alcohol (1978) 1.10

Identification of a specific radioligand for the cardiac rapidly activating delayed rectifier K+ channel. Circ Res (1993) 1.09

Prenatal diagnosis and perinatal management of fetal sacrococcygeal teratoma. Am J Perinatol (1999) 1.09

Mapping of the gene for human cysteine proteinase inhibitor stefin A, STF1, to chromosome 3cen-q21. Genomics (1991) 1.09

Genetic instability of microsatellite sequences in many non-small cell lung carcinomas. Cancer Res (1994) 1.09

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet (1995) 1.08

Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Hum Mol Genet (1995) 1.08

Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia. J Med Genet (2005) 1.08