(Q64388779)

English

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

scientific article published on 18 March 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

based on heuristic

inferred from title

Hildegard Kehrer-Sawatzki

1

object named as

Hildegard Kehrer-Sawatzki

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Victor-Felix Mautner

4

object named as

Victor-Felix Mautner

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

2

object named as

Lan Kluwe

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Carsten Fünsterer

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

language of work or name

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publication date

18 March 2005

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

116

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

466-475

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776250%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-005-1265-4

0 references

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of ADHD in neurofibromatosis type 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of the entire NF1 gene causing distinct manifestations in a family.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-B DNA conformations, genomic rearrangements, and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15776250

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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