(Q35088015)

6 August 2017

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title

Somatic gene mutation and human disease other than cancer (English)

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6 August 2017

Robert P Erickson

1

1 reference

PubMed ID

12644182

6 August 2017

language of work or name

English

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publication date

1 March 2003

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6 August 2017

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6 August 2017

543

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6 August 2017

125-136

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6 August 2017

2

1 reference

ONCOGENESIS: Landscaping the Cancer Terrain

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Genetic instabilities in human cancers

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

The significance of trisomy 7 mosaicism in chorionic villus cultures

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Confined placental mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Analysis of mutations occurring at the human hprt locus.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Databases and software for the analysis of mutations in the human p53 gene, human hprt gene and both the lacI and lacZ gene in transgenic rodents

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Germline and somatic mutation at the APRT locus of mice and man

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Embryonic stem cells and somatic cells differ in mutation frequency and type

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Iris (Lisch) nodules in neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

1977 Edward B. D. Neuhauser lecture: neurofibromatosis in children

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Neurofibromatosis type 1: the cognitive phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Insights into the pathogenesis of neurofibromatosis 1 vasculopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Somatic variation and multiple neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Segmental Neurofibromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Segmental neurofibromatosis: is it uncommon or underdiagnosed?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

OSTEODYSTROPHIA FIBROSA

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Syndrome Characterized by Osteitis Fibrosa Disseminata, Areas of Pigmentation and Endocrine Dysfunction, with Precocious Puberty in Females

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

McCune-Albright syndrome: a longitudinal clinical study of 32 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Unusual types of hyperthyroidism.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Etiology of fibrous dysplasia and McCune-Albright syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Fibrous dysplasia is a neoplasm

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Synthesis of mannosylglucosaminylinositol phospholipids in normal but not paroxysmal nocturnal hemoglobinuria cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

The dual pathogenesis of paroxysmal nocturnal hemoglobinuria.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

A knock-out model of paroxysmal nocturnal hemoglobinuria: Pig-a(-) hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Incontinentia pigmenti. A world statistical analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

The Proteus syndrome: the Elephant Man diagnosed

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Proteus syndrome: clinical evidence for somatic mosaicism and selective review

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

DNA Fingerprinting: The Utilization of Minisatellite Probes to Detect a Somatic Mutation in the Proteus Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Klippel-Trenaunay syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

The etiology of the Klippel-Trenaunay syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

THE KLIPPEL-TRENAUNAY SYNDROME: VARICOSITY, HYPERTROPHY AND HEMANGIOMA WITH NO ARTERIOVENOUS FISTULA

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Germline and somatic mosaicism in a female carrier of Hunter disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Somatic mosaicism in hemophilia A: a fairly common event.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Mosaicism in Alport syndrome with genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2803%2900010-3

7 January 2021

10.1016/S1383-5742(03)00010-3

Identifiers

DOI

1 reference

6 August 2017

1 reference

PubMed ID

12644182