Ionizing radiation and genetic risks. X. The potential "disease phenotypes" of radiation-induced genetic damage in humans: perspectives from human molecular biology and radiation genetics (Q33703747)

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English	Ionizing radiation and genetic risks. X. The potential "disease phenotypes" of radiation-induced genetic damage in humans: perspectives from human molecular biology and radiation genetics	scientific article

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scholarly article

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Europe PubMed Central

28 July 2017

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Europe PubMed Central

Ionizing radiation and genetic risks. X. The potential "disease phenotypes" of radiation-induced genetic damage in humans: perspectives from human molecular biology and radiation genetics (English)

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Europe PubMed Central

28 July 2017

molecular biology

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author name string

Sankaranarayanan K

1

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Europe PubMed Central

28 July 2017

language of work or name

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publication date

1 August 1999

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Europe PubMed Central

28 July 2017

Mutation Research

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Europe PubMed Central

28 July 2017

429

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Europe PubMed Central

28 July 2017

1

1 reference

Europe PubMed Central

28 July 2017

45-83

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Europe PubMed Central

28 July 2017

Ionizing radiation and genetic risks. VII. The concept of mutation component and its use in risk estimation for Mendelian diseases

1 reference

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Ionizing radiation and genetic risks. VIII. The concept of mutation component and its use in risk estimation for multifactorial diseases

1 reference

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7 January 2021

Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective

1 reference

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Congenital malformations, stillbirths, and early mortality among the children of atomic bomb survivors: a reanalysis

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Outcome of reproduction in women irradiated for skin hemangioma in infancy.

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7 January 2021

Ionizing radiation and genetic risks. IV. Current methods, estimates of risk of Mendelian disease, human data and lessons from biochemical and molecular studies of mutations

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Ionizing radiation, genetic risk estimation and molecular biology: impact and inferences

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7 January 2021

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

1 reference

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7 January 2021

Ionizing radiation and genetic risks. II. Nature of radiation-induced mutations in experimental mammalian in vivo systems

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7 January 2021

Ionizing radiation and genetic risks. III. Nature of spontaneous and radiation-induced mutations in mammalian in vitro systems and mechanisms of induction of mutations by radiation

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7 January 2021

Mutational specificity of depurination

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7 January 2021

Apurinic sites as mutagenic intermediates

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7 January 2021

Recombination hot spots and human disease

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7 January 2021

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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7 January 2021

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

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7 January 2021

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

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7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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7 January 2021

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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7 January 2021

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

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7 January 2021

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

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7 January 2021

Uniparental disomies in unselected populations

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7 January 2021

A catalogue of imprinted genes and parent-of-origin effects in humans and animals.

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7 January 2021

Mobile elements and disease

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7 January 2021

Gene and chromosome mutation after large fractionated or unfractionated radiation doses to mouse spermatogonia

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7 January 2021

Divergent X-ray-induced mutation rates in the mouse for H and "7-locus" groups of loci

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7 January 2021

Failure of X-rays to mutate class II histocompatibility loci in Balb/c mouse spermatogonia

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7 January 2021

A comparison of the 8-azaguanine and ouabain-resistance systems for the selection of induced mutant Chinese hamster cells

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7 January 2021

Mutation to ouabain-resistance in Chinese hamster cells: induction by ethyl methanesulphonate and lack of induction by ionising radiation.

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7 January 2021

Identical mutations and phenotypic variation

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7 January 2021

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 1. Spontaneous mutation: some conceptual difficulties

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7 January 2021

Molecular analysis of viable spontaneous and radiation-induced albino (c)-locus mutations in the mouse

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7 January 2021

Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. I. Plan, summary of results and discussion

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7 January 2021

Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. III. Description of presumed mutations

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7 January 2021

International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper 5/6. Perspectives in mutation epidemiology, 6. A 1983 view of sentinel phenotypes

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7 January 2021

Incidence of early loss of pregnancy

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7 January 2021

Contiguous gene syndromes: a component of recognizable syndromes

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7 January 2021

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

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Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

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7 January 2021

Mechanisms of the effects of aneuploidy in mammals

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7 January 2021

The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects

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7 January 2021

A chromosomal deletion map of human malformations.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Systematic analysis of 95 reciprocal translocations of autosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Association within a family of a balanced autosomal translocation with major mental illness

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Balanced nonacrocentric whole-arm reciprocal translocations: a de novo case and literature review

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Paracentric inversions: a review

1 reference

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7 January 2021

Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases

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https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Heterochromatin and gene expression in Drosophila

1 reference

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7 January 2021

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

1 reference

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7 January 2021

Dominant cataract mutations induced by gamma-irradiation of male mice

1 reference

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7 January 2021

Parental exposure to x rays and chemicals induces heritable tumours and anomalies in mice.

1 reference

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7 January 2021

X-ray- and chemically induced germ-line mutation causing phenotypical anomalies in mice

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7 January 2021

Induction of congenital anomalies in offspring of female mice exposed to varying doses of X-rays

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7 January 2021

Induction of congenital malformations in the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages

1 reference

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7 January 2021

Difference between two hybrid stocks of mice in the incidence of congenital abnormalities following X-ray exposure of stem-cell spermatogonia

1 reference

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7 January 2021

Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse

1 reference

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7 January 2021

Induction of congenital malformation in mice by parental irradiation: transmission to later generations

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7 January 2021

The comparative radiation genetics of humans and mice

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7 January 2021

Gene families: the taxonomy of protein paralogs and chimeras

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7 January 2021

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

1 reference

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7 January 2021

Trinucleotide repeat expansions and human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

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7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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7 January 2021

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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7 January 2021

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

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7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

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7 January 2021

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

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7 January 2021

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

1 reference

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7 January 2021

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse

1 reference

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7 January 2021

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

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7 January 2021

Molecular characterization of the mouse agouti locus.

1 reference

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7 January 2021

Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles

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7 January 2021

Molecular and developmental genetics of mouse coat color

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7 January 2021

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

1 reference

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7 January 2021

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Analysis of the Pax-3 gene in the mouse mutant splotch

1 reference

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7 January 2021

Mutations induced by X-rays at the HPRT locus in cultured Chinese hamster cells are mostly large deletions

1 reference

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7 January 2021

Molecular analysis of X-ray-induced mutants at the HPRT locus in V79 Chinese hamster cells

1 reference

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7 January 2021

Molecular analysis of hypoxanthine phosphoribosyltransferase gene deletions induced by alpha- and X-radiation in human lymphoblastoid cells

1 reference

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7 January 2021

Mutation induction in gamma-irradiated primary human bronchial epithelial cells and molecular analysis of the HPRT- mutants

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Low dose-rate X-irradiation induces larger deletions at the human HPRT locus than high dose-rate X-irradiation

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Analysis of large deletions in the HPRT gene of primary human fibroblasts using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mapping the end points of large deletions affecting the hprt locus in human peripheral blood cells and cell lines.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular mechanisms of spontaneous and induced loss of heterozygosity in human cells in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Characterization of multilocus lesions in human cells exposed to X radiation and radon.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Allelic losses in mutations at the aprt locus of human lymphoblastoid cells

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular evidence for the induction of large interstitial deletions on mouse chromosome 8 by ionizing radiation

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Cytogenetic effects of radiotherapy. Breakpoint distribution in induced chromosome aberrations

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Localization of deletion breakpoints in radiation-induced mutants of the hprt gene in hamster cells

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular characterization of X-ray-induced mutations at the HPRT locus in plateau-phase Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

The origin of interspersed repeats in the human genome

1 reference

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7 January 2021

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A clinical overview of WT1 gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A Dominant Negative Isoform of the Long QT Syndrome 1 Gene Product

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https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Effects of treatment on fertility in long-term survivors of childhood or adolescent cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Murine FGFR-1 is required for early postimplantation growth and axial organization

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https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Myotonic dystrophy: will the real gene please step forward!

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

The genetics of Wilms' tumor--a case of disrupted development

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Pax6: more than meets the eye.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutations of the APC (adenomatous polyposis coli) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Autosomal dominant polycystic kidney disease: molecular analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Norrie disease and MAO genes: nearest neighbors

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Human genetics: dissecting Williams syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4).

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Growth hormone insufficiency associated with haploinsufficiency at 18q23

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

Microdeletion syndromes, balanced translocations, and gene mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Induction and manifestation of hereditary cataracts.

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2899%2900100-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0027-5107(99)00100-1

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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