(Q30502821)

English

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders

scientific article

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scholarly article

1 reference

Europe PubMed Central

10 August 2017

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders (English)

1 reference

Europe PubMed Central

10 August 2017

author name string

G H Thomas

1

1 reference

Europe PubMed Central

10 August 2017

language of work or name

0 references

publication date

1 June 1996

1 reference

Europe PubMed Central

10 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

10 August 2017

58

1 reference

Europe PubMed Central

10 August 2017

1364-1368

1 reference

Europe PubMed Central

10 August 2017

6

1 reference

Europe PubMed Central

10 August 2017

Answer to criticism of Morton and Lalouel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Male-driven evolution of DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

How much do we know about spontaneous human mutation rates?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

X-linked dominant inherited diseases with lethality in hemizygous males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Rett syndrome--observational study of 33 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Genetic aspects of Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

The clinical recognition and differential diagnosis of Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Mother and daughter with Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Origin of mutation in sporadic cases of haemophilia-B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Rett syndrome: A search for gene sources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

A probable sex difference in some mutation rates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

14 July 2018

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915043

26 November 2018

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous mutation in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8651313

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

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