(Q37003276)

17 August 2017

1 reference

title

Molecular genetics of von Recklinghausen neurofibromatosis (English)

1 reference

17 August 2017

Molecular Genetics of von Recklinghausen Neurofibromatosis (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

1 reference

2

Collins FS

1 reference

17 August 2017

M. R. Wallace

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801591

29 November 2022

F. S. Collins

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801591

29 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1801591

29 November 2022

publication date

1 January 1991

1 reference

full work available at URL

17 August 2017

http://link.springer.com/content/pdf/10.1007/978-1-4684-5958-6_5.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Advances in human genetics

29 November 2022

published in

1 reference

17 August 2017

volume

20

1 reference

17 August 2017

page(s)

267-307

1 reference

Neurofibromatosis with fully expressed Noonan syndrome

17 August 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis

29 November 2022

2

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

3

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A highly polymorphic cDNA probe in the NF1 gene

29 November 2022

4

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis and cancer.

29 November 2022

5

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

6

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A genomic search for linkage of neurofibromatosis to RFLPs

29 November 2022

7

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

8

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

CpG-rich islands and the function of DNA methylation

29 November 2022

10

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve

29 November 2022

14

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

17

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

29 November 2022

19

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene

29 November 2022

20

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Experimental model of tumors associated with neurofibromatosis

29 November 2022

21

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Electrophoretic separations of large DNA molecules by periodic inversion of the electric field

29 November 2022

23

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Concordant optic glioma in a pair of monozygotic twins with neurofibromatosis.

29 November 2022

24

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

25

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

26

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

27

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Familial neurofibromatosis and juvenile chronic myelogenous leukemia

29 November 2022

28

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Further diagnostic thoughts about the Elephant Man.

29 November 2022

29

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Progress towards identifying the neurofibromatosis (NF1) gene

29 November 2022

31

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

33

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.

29 November 2022

38

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17

29 November 2022

39

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Linkage analysis of Von Recklinghausen neurofibromatosis: chromosomes 4 and 19.

29 November 2022

41

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis in a man with a ring 22: in situ hybridization studies

29 November 2022

42

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis

29 November 2022

43

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Increased levels of a nerve-growth-factor cross-reacting protein in "central" neurofibromatosis

29 November 2022

45

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Genetic analysis of NF1: identification of close flanking markers on chromosome 17.

29 November 2022

46

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes

29 November 2022

49

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Multiple Cell Origin of Hereditary Neurofibromas

29 November 2022

50

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Physical mapping of a translocation breakpoint in neurofibromatosis

29 November 2022

53

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Enhanced sensitivity of skin fibroblasts from neurofibromatosis patients to transformation by the Kirsten murine sarcoma virus. A potential laboratory assay for individuals at risk of cancer

29 November 2022

54

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

29 November 2022

55

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis

29 November 2022

56

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis and acute monocytic leukemia in adults.

29 November 2022

57

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Identification of the neurofibromatosis type 1 gene product

29 November 2022

59

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Evidence of chromosomal instability in neurofibromatosis

29 November 2022

60

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A genetic linkage map of chromosome 17

29 November 2022

61

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

ras and GAP--who's controlling whom?

29 November 2022

62

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Gene mapping and neurogenetics

29 November 2022

64

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A transgenic mouse model for human neurofibromatosis

29 November 2022

65

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

29 November 2022

66

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Recent developments in the diagnosis and management of neurofibromatosis

29 November 2022

69

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Evidence against linkage of von Recklinghausen neurofibromatosis and chromosome 19 markers

29 November 2022

71

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Coincidence of neurofibromatosis and myotonic dystrophy in a kindred

29 November 2022

72

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Type 1 neurofibromatosis: selective expression of extracellular matrix genes by Schwann cells, perineurial cells, and fibroblasts in mixed cultures

29 November 2022

73

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

29 November 2022

74

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis

29 November 2022

76

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Mutation and cancer: statistical study of retinoblastoma

29 November 2022

79

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Enhanced radiotolerance to ionizing radiation is correlated with increased cancer proneness of cultured fibroblasts from precursor states in neurofibromatosis patients

29 November 2022

81

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas

29 November 2022

83

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Cell culture studies on neurofibromatosis (von Recklinghausen). II. Occurrence of glial cells in primary cultures of peripheral neurofibromas

29 November 2022

84

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Cell culture studies on neurofibromatosis (von Recklinghausen). Characterization of cells growing from neurofibromas

29 November 2022

85

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Physical mapping of human chromosome 17 using fragment-containing microcell hybrids

29 November 2022

86

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

Mitogen signal

89

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A transcribed gene in an intron of the human factor VIII gene

29 November 2022

91

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Parasexual approaches to the study of human genetic disease.

29 November 2022

92

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

94

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).

29 November 2022

95

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Specific estradiol binding in schwannomas, meningiomas, and neurofibromas

29 November 2022

96

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

100

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis

29 November 2022

101

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

The oligodendrocyte-myelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate

29 November 2022

102

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Possible maternal effect on severity of neurofibromatosis

29 November 2022

103

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

29 November 2022

104

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update

29 November 2022

106

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A mapped set of DNA markers for human chromosome 17.

29 November 2022

109

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Mutations in the p53 gene occur in diverse human tumour types

29 November 2022

110

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

114

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

The neurofibromatosis-Noonan syndrome

29 November 2022

115

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

116

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

117

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis tumor and skin cells in culture

29 November 2022

118

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Linkage studies in peripheral neurofibromatosis.

29 November 2022

121

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

29 November 2022

122

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Iris nodules in von Recklinghausen's Neurofibromatosis. Electron microscopic confirmation of their melanocytic origin

29 November 2022

123

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Molecular and immunocytochemical studies of neurofibromas and related cell types

29 November 2022

124

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Tissue culture studies of Schwann cell proliferation and differentiation

29 November 2022

125

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Schwann-like cells cultured from human dermal neurofibromas. Immunohistological identification and response to Schwann cell mitogens

29 November 2022

126

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Mitogen accumulation in von Recklinghausen neurofibromatosis

29 November 2022

127

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

128

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Cytogenetic clones in a recurrent neurofibroma

29 November 2022

129

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Von Recklinghausen neurofibromatosis

29 November 2022

130

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Growth-promoting factors in neurofibroma crude extracts

29 November 2022

131

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Multiple cytogenetic aberrations in neurofibrosarcomas complicating neurofibromatosis

29 November 2022

136

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

29 November 2022

141

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Serum neuronal growth factor levels in von Recklinghausen's neurofibromatosis

29 November 2022

142

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

145

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

29 November 2022

146

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Tumor suppressor genes: the puzzle and the promise

29 November 2022

150

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis in the bicolor damselfish (Pomacentrus partitus) as a model of von Recklinghausen neurofibromatosis

29 November 2022

155

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

29 November 2022

157

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Genetic linkage analysis of neurofibromatosis with DNA markers

29 November 2022

158

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

29 November 2022

159

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

On the mutation rate of neurofibromatosis

29 November 2022

163

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Angiogenic and invasive properties of neurofibroma Schwann cells

29 November 2022

164

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Linkage of NF1 to 12 chromosome 17 markers: a summary of eight concurrent reports

29 November 2022

166

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

167

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Tissue culture studies of neurofibromatosis: effects of axolemmal fragments and cyclic adenosine 3',5'-monophosphate analogues on proliferation of Schwann-like and fibroblast-like neurofibroma cells

29 November 2022

168

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms.

29 November 2022

170

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Genetic linkage analysis of neurofibromatosis

29 November 2022

172

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families

29 November 2022

173

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

177

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population

29 November 2022

180

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A 90 kb DNA deletion associated with neurofibromatosis type 1.

29 November 2022

182

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

29 November 2022

183

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Nerve growth factor modification of the ethylnitrosourea model for multiple schwannomas.

29 November 2022

185

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

186

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

187

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

188

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region

29 November 2022

189

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

A de novo Alu insertion results in neurofibromatosis type 1

29 November 2022

190

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Some retinoblastomas, osteosarcomas, and soft tissue sarcomas may share a common etiology

29 November 2022

196

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

29 November 2022

197

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Tightly linked markers for the neurofibromatosis type 1 gene

29 November 2022

198

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

GAPs in understanding Ras

29 November 2022

199

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Sensitivity of cultured skin fibroblasts from patients with neurofibromatosis to DNA-damaging agents.

29 November 2022

200

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

The neurofibromatosis type 1 gene encodes a protein related to GAP

29 November 2022

201

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

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

29 November 2022

202

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

Short communication: neurofibromatosis fibroblasts: slow growth and abnormal morphology

29 November 2022

203

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_5

29 November 2022

Identifiers

0 references

1 reference