(Q28205052)

Genetic instabilities in human cancers

21 January 2018

1 reference

Natural gene therapy and the Darwinian legacy

21 January 2018

1 reference

Blood group chimerism in human multiple births is not rare

21 January 2018

1 reference

Self-induced correction of the genetic defect in tyrosinemia type I

21 January 2018

1 reference

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy

21 January 2018

1 reference

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

21 January 2018

1 reference

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

21 January 2018

1 reference

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

21 January 2018

1 reference

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

21 January 2018

1 reference

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

21 January 2018

1 reference

Somatic mosaicism in hemophilia A: a fairly common event.

21 January 2018

1 reference

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

21 January 2018

1 reference

High rate of mosaicism in tuberous sclerosis complex

21 January 2018

1 reference

The Bloom's syndrome gene product is homologous to RecQ helicases

21 January 2018

1 reference

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

21 January 2018

1 reference

Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1

21 January 2018

1 reference

The emerging genetic and molecular basis of Fanconi anaemia

21 January 2018

1 reference

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

21 January 2018

1 reference

Positional cloning of a novel Fanconi anemia gene, FANCD2

21 January 2018

1 reference

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

21 January 2018

1 reference

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

Somatic mutations and aging: a re-evaluation

21 January 2018

1 reference

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

21 January 2018

1 reference

Loss of constitutional heterozygosity in human cancer.

21 January 2018

1 reference

Clues to the pathogenesis of familial colorectal cancer

21 January 2018

1 reference

Monozygotic twins discordant for the Russell-Silver syndrome

21 January 2018

1 reference

Clonal chromosome abnormalities in Fanconi anemia

21 January 2018

1 reference

Tetrasomy 12p (Pallister-Killian syndrome).

21 January 2018

1 reference

AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation

21 January 2018

1 reference

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

21 January 2018

1 reference

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

21 January 2018

1 reference

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

21 January 2018

1 reference

Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband

21 January 2018

1 reference

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

21 January 2018

1 reference

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.

21 January 2018

1 reference

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

21 January 2018

1 reference

Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA).

21 January 2018

1 reference

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis

21 January 2018

1 reference

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

21 January 2018

1 reference

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

21 January 2018

1 reference

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

21 January 2018

1 reference

Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells.

21 January 2018

1 reference

Proteus syndrome: clinical evidence for somatic mosaicism and selective review

21 January 2018

1 reference

Determination of spontaneous loss of heterozygosity mutations in Aprt heterozygous mice

21 January 2018

1 reference

Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice.

21 January 2018

1 reference

Cancer predisposition caused by elevated mitotic recombination in Bloom mice

21 January 2018

1 reference

RecQ helicases and topoisomerases: components of a conserved complex for the regulation of genetic recombination

21 January 2018

1 reference

Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

21 January 2018

1 reference

The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants.

21 January 2018

1 reference

Dual roles for DNA sequence identity and the mismatch repair system in the regulation of mitotic crossing-over in yeast

21 January 2018

1 reference

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

21 January 2018

1 reference

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

21 January 2018

1 reference

Trinucleotide expansion in haploid germ cells by gap repair

21 January 2018

1 reference

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

21 January 2018

1 reference

In utero origin of t(8;21) AML1-ETO translocations in childhood acute myeloid leukemia

21 January 2018

1 reference

GENETICS OF TUBEROUS SCLEROSIS

21 January 2018

1 reference

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

21 January 2018

1 reference

Somatic mosaicism and variable expressivity

21 January 2018

1 reference

Chimerism of the transplanted heart

31 March 2020

1 reference

Chimerism of the transplanted heart

31 March 2020

1 reference

Smooth muscle cells, but not myocytes, of host origin in transplanted human hearts

31 March 2020

1 reference

Retrotransposons as epigenetic mediators of phenotypic variation in mammals

31 March 2020

1 reference

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

31 March 2020

1 reference

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group

31 March 2020

1 reference

Somatic mosaicism in von Hippel-Lindau Disease

31 March 2020

1 reference

Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity.

31 March 2020

1 reference

Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia

31 March 2020

1 reference

The importance of genetic mosaicism in human disease

31 March 2020

1 reference

Intrinsic genetic instability of normal human lymphocytes and its implication for loss of heterozygosity

31 March 2020

1 reference

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

31 March 2020

1 reference

Discordant brain-surface anatomy in monozygotic twins

31 March 2020

1 reference

Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses

31 March 2020

1 reference

Fanconi anemia: myelodysplasia as a predictor of outcome

31 March 2020

1 reference

Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns

31 March 2020

1 reference

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

31 March 2020

1 reference

The validation of a 7-locus multiplex STR test for use in forensic casework. (I). Mixtures, ageing, degradation and species studies

31 March 2020

1 reference

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

31 March 2020

1 reference

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

31 March 2020

1 reference

Congenital myotonic dystrophy pathology and somatic mosaicism

31 March 2020

1 reference

Segmental manifestation of Darier disease. What is the genetic background in type 1 and type 2 mosaic phenotypes?

31 March 2020

1 reference

Expression of two functionally different androgen receptors in a patient with androgen insensitivity

31 March 2020

1 reference

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

31 March 2020

1 reference

31 March 2020

1 reference

The McCune-Albright syndrome: a lethal gene surviving by mosaicism

31 March 2020

1 reference

The multifaceted challenges of Proteus syndrome

31 March 2020

1 reference

Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains

31 March 2020

1 reference

Mitotic maneuvers in the light

31 March 2020

1 reference

Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA

31 March 2020

1 reference