(Q33598268)

28 July 2017

title

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy (English)

1 reference

Duchenne muscular dystrophy

28 July 2017

main subject

1 reference

Grimm T

1 reference

28 July 2017

Müller B

series ordinal

1 reference

28 July 2017

Müller CR

series ordinal

1 reference

28 July 2017

Janka M

series ordinal

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1990

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

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28 July 2017

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28 July 2017

page(s)

683-687

1 reference

A pedigree of aniridia with a discussion of germinal mosaicism in man

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Possible gonadal mosaicism in a family with hemoglobin Köln

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

The influence of half-chromatid mutations on the ratio of new mutations in lethal X-linked recessive disorders

21 June 2018

1 reference

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Easy calculations of lod scores and genetic risks on small computers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Achondroplasia: unexpected familial recurrence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Recurrence risks for germinal mosaics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Dominant ectrodactyly and possible germinal mosaicism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Gonadal mosaicism and genetic counseling for X-linked recessive lethals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Gonadal mosaicism in pseudoachondroplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Achondroplasia in sibs of normal parents

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

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

21 June 2018

1 reference

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Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Familiarity, recessivity and germline mosaicism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Half chromatid mutations: transmission in humans?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Germinal mosaicism in Apert syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Germline mosaicism and Duchenne muscular dystrophy mutations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017258

Achondroplasia in two sisters with normal parents

30 October 2018

1 reference

12 December 2020

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

1 reference

12 December 2020

"Unstable premutation" in achondroplasia: penetrance vs phenotrance

1 reference

12 December 2020

Non-penetrance in tuberous sclerosis

1 reference

12 December 2020

Efficacy of human immunoglobulin and penicillin G in treatment of experimental group B streptococcal infection

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

Germinal mosaicism in Crouzon syndrome

1 reference

12 December 2020

Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.11.683

1 reference

28 July 2017

1 reference

28 July 2017

1 reference