Review and hypotheses: somatic mosaicism: observations related to clinical genetics (Q34164134)

31 July 2017

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title

Review and hypotheses: somatic mosaicism: observations related to clinical genetics (English)

1 reference

31 July 2017

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Hall JG

1

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PubMed ID

3052049

31 July 2017

language of work or name

English

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publication date

1 October 1988

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American Journal of Human Genetics

31 July 2017

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31 July 2017

43

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31 July 2017

4

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31 July 2017

355-363

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

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Gene action in the X-chromosome of the mouse (Mus musculus L.)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Possible gonadal mosaicism in a family with hemoglobin Köln

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Chromosomal mosaicism confined to the placenta in human conceptions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Achondroplasia: unexpected familial recurrence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Retinoblastoma: Clues to Human Oncogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Dominant ectrodactyly and possible germinal mosaicism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

A maximum-likelihood method for estimating the disease predisposition of heterozygotes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Phytohemagglutinin-mediated blastomere aggregation and development of allophenic mice.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Chromosomal abnormalities in leukemia and lymphoma: clinical and biological significance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Gonadal mosaicism in pseudoachondroplasia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Familial ectopic ossification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Cell lineage and developmental potential of cells in the zebrafish embryo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Multiple recurrence of trisomy 21 Down syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Uniparental disomy as a mechanism for human genetic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Genomic imprinting and carcinogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Pallister-Killian syndrome: cytogenetic and molecular studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Transabdominal chorion villus biopsy: 100 consecutive cases.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Homozygotes for Huntington's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Letter: Half chromatid mutations may explain incontinentia pigmenti in males

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Half chromatid mutations: transmission in humans?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Clonal growth versus cell mingling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Trisomy 8 restricted to cultured fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Origin and differentiation of the yolk sac and extraembryonic mesoderm in presomite human and rhesus monkey embryos

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Germinal mosaicism in Apert syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Mild expression of the Pfeiffer syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715487

Diploid/triploid mixoploidy and hypomelanosis of Ito

28 October 2018

1 reference

12 December 2020

Non-penetrance in tuberous sclerosis

1 reference

12 December 2020

Association of red cell spherocytosis with deletion of the short arm of chromosome 8

1 reference

12 December 2020

GENETICS OF TUBEROUS SCLEROSIS

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12 December 2020

Melnick-Needles syndrome in males

1 reference

12 December 2020

Clonal development, stem-cell differentiation, and clinical remissions in acute nonlymphocytic leukemia

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12 December 2020

Confined chorionic mosaicism in prenatal diagnosis

1 reference

12 December 2020

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

12 December 2020

Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

1 reference

12 December 2020

Germinal mosaicism in Crouzon syndrome

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1 reference

12 December 2020

Congenital asymmetry and diploid-triploid mosaicism

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12 December 2020

Achondroplasia in two sisters with normal parents

1 reference

12 December 2020

1 reference

12 December 2020

Evidence from mutable genes concerning the origin of the germ line

1 reference

12 December 2020

HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti

1 reference

12 December 2020

"Unstable premutation" in achondroplasia: penetrance vs phenotrance

1 reference

12 December 2020

An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue

1 reference

12 December 2020

Congenital web formation

1 reference

12 December 2020

Identifiers

PMCID

1715487

1 reference

31 July 2017

1 reference

PubMed ID

3052049