(Q77525543)

English

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

scientific article published on 01 September 1998

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

human population genetics

1 reference

based on heuristic

inferred from title

author name string

K Sankaranarayanan

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

language of work or name

0 references

publication date

1 September 1998

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Mutation Research

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

411

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

129-178

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

The comparative radiation genetics of humans and mice

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The amount of hereditary disease in human populations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Monogenic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Low level radiation and genetic risk estimation in man

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The load of genetic and partially genetic disorders in man. I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The load of genetic and partially genetic diseases in man. II. Some selected common multifactorial diseases: estimates of population prevalence and of detriment in terms of years of lost and impaired life

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The Low-Density Lipoprotein Pathway and its Relation to Atherosclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Long-term survival in patients with hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of haemochromatosis amongst asymptomatic Australians

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for haemochromatosis: prevalence among Danish blood donors.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

CpG islands and genes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of Bloom's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Jewish diseases and origins

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive disorders among Arabs: an overview from Kuwait

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The effect of a change in mutation rate on the incidence of dominant and X-linked recessive disorders in man.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

On the distributions of frequencies of mutation to genes determining harmful traits in man

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Exon structure of the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Fine structure of the human FMR1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Craniofacial syndromes: no such thing as a single gene disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

How much do we know about spontaneous human mutation rates?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The high spontaneous mutation rate: is it a health risk?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The factor IX gene as a model for analysis of human germline mutations: an update

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Weak male-driven molecular evolution in rodents

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Rates of nucleotide substitution in primates and rodents and the generation-time effect hypothesis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Spontaneous mutations recovered as mosaics in the mouse specific-locus test

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mosaicism in the house mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Clusters of identical new mutation in the evolutionary landscape.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familiarity, recessivity and germline mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant polycystic kidney disease: molecular analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Age at onset as an indicator of familial risk of breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Breast cancer genes: how many, where and who are they?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of early-onset familial breast cancer to chromosome 17q21

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of breast cancer attributable to BRCA1 in a population-based series of American women

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The epidemiology of Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The epidemiology of Huntington's disease in Northern Ireland

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Von Recklinghausen neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Segregation analysis of peripheral neurofibromatosis (NF1)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Tuberous sclerosis: a new estimate of prevalence within the Oxford region.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Epidemiology of tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Pure hereditary spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic counselling in facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary multiple exostoses.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The natural history of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Positional cloning of a gene involved in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Natural history study of hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Birth prevalence rates of skeletal dysplasias.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Treacher Collins syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Birth prevalence study of the Apert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysing human developmental abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Craniosynostosis: genes and mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Lower lip sinuses: I. Epidemiology, microforms and transverse sulci

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Von Hippel-Lindau disease: a genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Actions and Interactions of Antithrombin and Heparin

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genes responsible for human hereditary deafness: symphony of a thousand

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parameters

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Cancer incidence, survival, and mortality for children younger than age 15 years

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Aniridia. A review

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

PAX6 mutations in aniridia

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hirschsprung's disease: clinical and experimental observations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Chronic pancreatitis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneity in hereditary pancreatitis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Nevoid basal cell carcinoma syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

An update on the frequency of mucopolysaccharide syndromes in British Columbia

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The incidence and genetics of metachromatic leucodystrophy in northern Sweden

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Global prevalence of putative haemochromatosis mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Persistent neonatal hyperinsulinism

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Classification of spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Friedreich's ataxia: a defect in signal transduction?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of Sickling Disorders in U.S. Blacks

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Prospective study of X-linked progressive muscular dystrophy in Campania

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Duchenne muscular dystrophy--Meryon's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis for three X-linked immune disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Presidential address: Studies in the neuronal ceroid-lipofuscinoses.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations causing Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Incidence of familial dysautonomia in Israel 1977-1981

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Factor XI deficiency in Ashkenazi Jews in Israel

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Human L-xylulose reductase variation: family and population studies

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary disorders among Iranian Jews

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A host of hypercholesterolaemic homozygotes in South Africa.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A candidate gene for familial Mediterranean fever

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive diseases among Palestinian Arabs

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900012-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1383-5742(98)00012-X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806424%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q77525543&oldid=1642279529"