1 |
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.
62
57
|
Venturin M...Riva P
|
24711647 |
2014 |
2 |
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.
62
57
|
Gervasini C...Riva P
|
15676286 |
2005 |
3 |
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.
62
57
|
Riva P...Larizza L
|
10631140 |
2000 |
4 |
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
57
|
Wright CF...Weedon MN
|
30665703 |
2019 |
5 |
Prevalence and architecture of de novo mutations in developmental disorders.
57
|
Deciphering Developmental Disorders Study
|
28135719 |
2017 |
6 |
Analysis of protein-coding genetic variation in 60,706 humans.
57
|
Lek M...Exome Aggregation Consortium
|
27535533 |
2016 |
7 |
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
57
|
Roehl AC...Kehrer-Sawatzki H
|
20725927 |
2010 |
8 |
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
57
|
Mautner VF...Kehrer-Sawatzki H
|
20543202 |
2010 |
9 |
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.
57
|
Steinmann K...Kehrer-Sawatzki H
|
17999360 |
2007 |
10 |
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
57
|
Douglas J...Rahman N
|
17632510 |
2007 |
11 |
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.
57
|
Kehrer-Sawatzki H...Mautner VF
|
15257518 |
2004 |
12 |
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.
57
|
Venturin M...Riva P
|
14729829 |
2004 |
13 |
Elevated risk for MPNST in NF1 microdeletion patients.
57
|
De Raedt T...Legius E
|
12660952 |
2003 |
14 |
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.
57
|
Jenne DE...Kehrer-Sawatzki H
|
11468690 |
2001 |
15 |
Recombination hotspot in NF1 microdeletion patients.
57
|
Lopez-Correa C...Legius E
|
11440991 |
2001 |
16 |
Unequal meiotic crossover: a frequent cause of NF1 microdeletions.
57
|
Lopez Correa C...Legius E
|
10775528 |
2000 |
17 |
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
57
|
Dorschner MO...Stephens K
|
10587576 |
2000 |
18 |
Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes.
57
|
Shen S...Harmar AJ
|
10713891 |
2000 |
19 |
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.
57
|
Streubel B...Rehder H
|
10528240 |
1999 |
20 |
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
57
|
Rasmussen SA...Wallace MR
|
9643287 |
1998 |
21 |
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.
57
|
Upadhyaya M...Cooper DN
|
9654211 |
1998 |
22 |
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
57
|
van Asperen CJ...Hennekam RC
|
9598729 |
1998 |
23 |
Do NF1 gene deletions result in a characteristic phenotype?
57
|
Tonsgard JH...Lindgren V
|
9375928 |
1997 |
24 |
Deletion of the entire NF1 gene causing distinct manifestations in a family.
57
|
Wu BL...Korf BR
|
9066892 |
1997 |
25 |
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.
57
|
Wu BL...Korf BR
|
9048923 |
1997 |
26 |
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
57
|
Cnossen MH...Niermeijer MF
|
9143927 |
1997 |
27 |
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.
57
|
Riva P...Larizza L
|
8931693 |
1996 |
28 |
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
57
|
Upadhyaya M...Hughes HE
|
8929953 |
1996 |
29 |
Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.
57
|
Wu BL...Korf BR
|
8585580 |
1995 |
30 |
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
57
|
Kayes LM...Stephens K
|
8116612 |
1994 |
31 |
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
62
|
Kehrer-Sawatzki H...Pfeiffer C
|
35246941 |
2022 |
32 |
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.
62
|
Kehrer-Sawatzki H...Cooper DN
|
34535841 |
2021 |
33 |
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.
62
|
Santoro C...Piluso G
|
33722742 |
2021 |
34 |
NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1.
62
|
Lopes J...Osorio Ferreira E
|
32566957 |
2020 |
35 |
NF1 microdeletion syndrome: case report of two new patients.
62
|
Serra G...Falsaperla R
|
31703719 |
2019 |
36 |
Rare NF1 microdeletion syndrome in an Omani patient.
62
|
Al-Araimi M...Mula-Abed WA
|
30564341 |
2018 |
37 |
Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly.
62
|
Martini AE...DeCherney AH
|
29215515 |
2018 |
38 |
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
62
|
Ferrari L...Riva P
|
28776093 |
2017 |
39 |
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
62
|
Tassano E...Ronchetto P
|
28605748 |
2017 |
40 |
[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion].
62
|
Lin S...Luo Y
|
27060318 |
2016 |
41 |
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
62
|
Xie B...Shen Y
|
27247625 |
2016 |
42 |
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
62
|
Moles KJ...Shaffer LG
|
22241097 |
2012 |
43 |
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.
62
|
Vogt J...Kehrer-Sawatzki H
|
22151963 |
2011 |
44 |
Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice.
62
|
Bae KB...Ryoo ZY
|
21221781 |
2011 |
45 |
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
62
|
Grisart B...Destree A
|
18183042 |
2008 |
46 |
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients.
62
|
Piddubnyak V...Poyet JL
|
17380155 |
2007 |
47 |
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.
62
|
Mensink KA...Babovic-Vuksanovic D
|
16467218 |
2006 |
48 |
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.
62
|
Venturin M...Riva P
|
16138909 |
2005 |
49 |
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.
62
|
Venturin M...Riva P
|
15103551 |
2004 |
50 |
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.
62
|
Bentivegna A...Riva P
|
11479735 |
2001 |