(Q42668919)

English

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay

scientific article published on February 1996

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay (English)

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

1 reference

based on heuristic

inferred from title

Andrew Oliver Mungo Wilkie

7

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

author name string

Upadhyaya M

1

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Roberts SH

2

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Maynard J

3

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Sorour E

4

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Thompson PW

5

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Vaughan M

6

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Hughes HE

8

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

language of work or name

0 references

publication date

1 February 1996

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

33

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

2

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

148-152

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Male-driven evolution of DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Close flanking markers for neurofibromatosis type I (NF1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

A 90 kb DNA deletion associated with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Parameters of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051842

27 May 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How many genes in the human genome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NF1) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8929953

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.2.148

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

ResearchGate publication ID

0 references

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