(Q31138286)

29 June 2017

title

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

1 reference

neurofibromatosis 1 genes

29 June 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696059

24 December 2023

1 reference

Hildegard Kehrer-Sawatzki

24 December 2023

author

6

object named as

Hildegard Kehrer-Sawatzki

1 reference

29 June 2017

Sigrid Tinschert

2

1 reference

29 June 2017

Horst Hameister

4

1 reference

29 June 2017

Karen Stephens

5

1 reference

29 June 2017

Dieter E. Jenne

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696059

24 December 2023

Michael O. Dorschner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12696059

24 December 2023

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=12696059

24 December 2023

publication date

1 June 2003

1 reference

full work available at URL

29 June 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgcc.10206

1 reference

https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.10206

24 December 2023

1 reference

Genes, Chromosomes and Cancer

24 December 2023

published in

1 reference

29 June 2017

volume

37

1 reference

29 June 2017

issue

2

1 reference

29 June 2017

page(s)

111-120

1 reference

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

29 June 2017

cites work

2

1 reference

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

24 December 2023

3

1 reference

Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci

24 December 2023

4

1 reference

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

24 December 2023

5

1 reference

Recent duplication, domain accretion and the dynamic mutation of the human genome

24 December 2023

6

1 reference

Physical mapping of a translocation breakpoint in neurofibromatosis

24 December 2023

7

1 reference

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

24 December 2023

9

1 reference

Identification and characterization of NF1 -related loci on human chromosomes 22, 14 and 2

24 December 2023

10

1 reference

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

24 December 2023

11

1 reference

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

24 December 2023

12

1 reference

Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping

24 December 2023

13

1 reference

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.

24 December 2023

15

1 reference

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

24 December 2023

16

1 reference

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication

24 December 2023

17

1 reference

Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors

24 December 2023

18

1 reference

Precise localization of NF1 to 17q11.2 by balanced translocation

24 December 2023

19

1 reference

NF1-related locus on chromosome 15

24 December 2023

20

1 reference

Genomic organization of the neurofibromatosis 1 gene (NF1).

24 December 2023

21

1 reference

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

24 December 2023

22

1 reference

Recombination hotspot in NF1 microdeletion patients

24 December 2023

23

1 reference

Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.

24 December 2023

24

1 reference

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

24 December 2023

25

1 reference

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

24 December 2023

26

1 reference

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

24 December 2023

28

1 reference

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids

24 December 2023

29

1 reference

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

24 December 2023

31

1 reference

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

24 December 2023

32

1 reference

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

24 December 2023

33

1 reference

Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply

24 December 2023

34

1 reference

Segmental duplications and the evolution of the primate genome

24 December 2023

35

1 reference

Genomic analysis of a NF1-related pseudogene on human chromosome 21.

24 December 2023

36

1 reference

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

24 December 2023

37

1 reference

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling

24 December 2023

38

1 reference

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

24 December 2023

39

1 reference

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

24 December 2023

40

1 reference

Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17.

24 December 2023

41

1 reference

24 December 2023

Identifiers

DOI

10.1002/GCC.10206

1 reference

29 June 2017

1 reference