(Q28241993)

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376].

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A new disease-causing mutation in the GAP-related domain of the NF1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Evolution of immunoglobulin V genes: evidence indicating that recently duplicated human V kappa sequences have diverged by gene conversion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Prevalence of ras gene mutations in human colorectal cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Sources and evolution of human Alu repeated sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Characterization of a single base-pair deletion in neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Physical mapping of a translocation breakpoint in neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The neurofibromatosis type 1 gene and its protein product, neurofibromin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Familial neurofibromatosis type 1: clinical experience with DNA testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

High-frequency meiotic gene conversion between repeated genes on nonhomologous chromosomes in yeast

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Identification of the von Hippel-Lindau disease tumor suppressor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

NF1-related locus on chromosome 15

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The evolution of multigene families: human haptoglobin genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

ras GTPase activating protein: signal transmitter and signal terminator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Lack of independence between five DNA polymorphisms in the NF1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Possible maternal effect on severity of neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Epidemiology of tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Neurofibromatosis type 1 gene mutations in neuroblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A 90 kb DNA deletion associated with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The neurofibromatosis type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

A BamHI polymorphism in the human EVI2A gene (human homolog of the murine gene Evi-2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Molecular analysis of neurofibromatosis type 1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

Mutations in von Recklinghausen neurofibromatosis: an hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040202

7 January 2021

release_5cznrvmk3vc2nhezzpvjlrchyi

Identifiers

DOI

10.1002/HUMU.1380040202

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5cznrvmk3vc2nhezzpvjlrchyi

24 November 2022