| Year |
Title |
Altmetric |
| 2022
|
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genetics in Medicine.
24:1967-1977.
2022
|
|
| 2022
|
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
2022
|
|
| 2022
|
Re-evaluation of missense variant classifications in NF2.
Human Mutation.
43:643-654.
2022
|
|
| 2022
|
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
European Journal of Human Genetics.
30:291-297.
2022
|
|
| 2022
|
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Human Mutation.
43:74-84.
2022
|
|
| 2021
|
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Genetics in Medicine.
23:1779-1782.
2021
|
|
| 2021
|
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genetics in Medicine.
23:1506-1513.
2021
|
|
| 2020
|
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Genetics in Medicine.
22:2081-2088.
2020
|
|
| 2020
|
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotides.
Human Mutation.
41:1145-1156.
2020
|
|
| 2020
|
Quantification of splice variants using real-time PCR.
Nucleic Acids Research.
29.
2020
|
|
| 2019
|
Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.
Neurology.
93:510-514.
2019
|
|
| 2019
|
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
American Journal of Medical Genetics Part A.
179:1091-1097.
2019
|
|
| 2019
|
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
American Journal of Medical Genetics Part A.
179:1098-1106.
2019
|
|
| 2019
|
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation.
Genetics in Medicine.
21:867-876.
2019
|
|
| 2019
|
Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0).
Genetics in Medicine.
21:764-765.
2019
|
|
| 2019
|
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: Consensus guidelines for testing a child without malignancy.
Journal of Medical Genetics.
56:53-62.
2019
|
|
| 2019
|
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
Human Genetics.
138:73-81.
2019
|
|
| 2018
|
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Science.
362:1177-1182.
2018
|
|
| 2018
|
Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1.
Communications Biology.
1.
2018
|
|
| 2018
|
Germline and somatic NF1 alterations are linked to increased HER2 expression in breast cancer.
Cancer Prevention Research.
11:655-663.
2018
|
|
| 2018
|
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.
Human Genetics.
137:511-520.
2018
|
|
| 2018
|
High-Throughput Tabular Data Processor – Platform independent graphical tool for processing large data sets.
PLoS One.
13.
2018
|
|
| 2018
|
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848.
American Journal of Human Genetics.
102:69-87.
2018
|
|
| 2018
|
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer
2018
|
|
| 2018
|
Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders
2018
|
|
| 2017
|
Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager
2017
|
|
| 2017
|
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.
Neurogenetics.
18:169-174.
2017
|
|
| 2017
|
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
Human Mutation.
38:889-897.
2017
|
|
| 2017
|
Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.
Journal of the American Academy of Dermatology.
76:1077-1083.e3.
2017
|
|
| 2017
|
Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1
2017
|
|
| 2017
|
Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.
British Journal of Dermatology.
176:1077-1078.
2017
|
|
| 2017
|
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
American Journal of Medical Genetics Part A.
173:647-653.
2017
|
|
| 2016
|
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
Disease Models and Mechanisms.
9:759-767.
2016
|
|
| 2016
|
Interaction between a domain of the negative regulator of the ras-ERK pathway, SPRED1 protein, and the GTPase-activating protein-related domain of neurofibromin is implicated in legius syndrome and neurofibromatosis type 1.
Journal of Biological Chemistry.
291:3124-3134.
2016
|
|
| 2016
|
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.
Human Molecular Genetics.
25:484-496.
2016
|
|
| 2015
|
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
American Journal of Medical Genetics Part A.
167:3186-3191.
2015
|
|
| 2015
|
Cafe-au-lait macules, axillary freckling and a variant of neurofibromatosis type 1 gene.
Nederlands Tijdschrift voor Dermatologie en Venereologie.
25:542-544.
2015
|
|
| 2015
|
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.
Human Mutation.
36:1088-1099.
2015
|
|
| 2015
|
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Human Mutation.
36:1052-1063.
2015
|
|
| 2015
|
Hypomagnesemia due to two novel TRPM6 mutations.
Journal of Pediatric Endocrinology and Metabolism.
28:1373-1378.
2015
|
|
| 2015
|
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
Journal of Medical Genetics.
53:123-126.
2015
|
|
| 2015
|
Decoding NF1 Intragenic Copy-Number Variations.
American Journal of Human Genetics.
97:238-249.
2015
|
|
| 2015
|
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
American Journal of Medical Genetics Part A.
167:1741-1746.
2015
|
|
| 2015
|
Clinical implications of rabphillin-3A-like gene alterations in breast cancer.
PLoS One.
10.
2015
|
|
| 2015
|
Sex-discordant monochorionic twins with blood and tissue chimerism.
American Journal of Medical Genetics Part A.
167:872-877.
2015
|
|
| 2015
|
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
Human Molecular Genetics.
24:3518-3528.
2015
|
|
| 2014
|
Identification of Large NF1 duplications reciprocal to NAHR-Mediated Type-1 NF1 deletions.
Human Mutation.
35:1469-1475.
2014
|
|
| 2014
|
Update from the 2013 international neurofibromatosis conference.
American Journal of Medical Genetics Part A.
164:2969-2978.
2014
|
|
| 2014
|
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.
Genome Biology.
15.
2014
|
|
| 2014
|
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.
Human Mutation.
35:215-226.
2014
|
|
| 2014
|
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Nature Genetics.
46:182-187.
2014
|
|
| 2014
|
Jaffe-Campanacci syndrome, revisited: Detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Genetics in Medicine.
16:448-459.
2014
|
|
| 2014
|
Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene.
Human Mutation.
35:891-898.
2014
|
|
| 2013
|
Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
American Journal of Medical Genetics Part A.
161:2105-2107.
2013
|
|
| 2013
|
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis Type 1.
Pediatric Neurology.
48:447-453.
2013
|
|
| 2013
|
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
American Journal of Medical Genetics Part A.
161:405-416.
2013
|
|
| 2013
|
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation
2013
|
|
| 2013
|
Elucidating distinct roles for NF1 in melanomagenesis.
Cancer Discovery.
3:339-349.
2013
|
|
| 2012
|
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Human Mutation.
33:1599-1609.
2012
|
|
| 2012
|
Review and update of SPRED1 mutations causing legius syndrome.
Human Mutation.
33:1538-1546.
2012
|
|
| 2012
|
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL
2012
|
|
| 2012
|
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndrome.
European Journal of Human Genetics.
20:618-625.
2012
|
|
| 2012
|
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: A causal relationship?
2012
|
|
| 2012
|
Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome.
American Journal of Medical Genetics Part A.
158 A:1195-1199.
2012
|
|
| 2012
|
Neurofibromatosis 2011: A report of the Children's Tumor Foundation Annual Meeting.
Acta Neuropathologica.
123:369-380.
2012
|
|
| 2012
|
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 F1 deletions.
Human Mutation.
33:372-383.
2012
|
|
| 2012
|
Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable Stage III colorectal adenocarcinomas.
PLoS One.
7.
2012
|
|
| 2012
|
Gonosomal mosaicism for an NF1 deletion in a sperm donor: Evidence of the need for coordinated, long-term communication of health information among relevant parties.
Human Reproduction.
27:1223-1226.
2012
|
|
| 2011
|
The NF1 gene contains hotspots for L1 endonuclease-dependent De Novo insertion.
PLoS Genetics.
7.
2011
|
|
| 2011
|
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
American Journal of Medical Genetics Part A.
155:1352-1359.
2011
|
|
| 2011
|
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
Human Mutation.
32:213-219.
2011
|
|
| 2011
|
The development of cutaneous neurofibromas.
American Journal of Pathology.
178:500-505.
2011
|
|
| 2010
|
Bax expression is a candidate prognostic and predictive marker of colorectal cancer..
Journal of Gastrointestinal Oncology.
1:76-89.
2010
|
|
| 2010
|
Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient.
Genetic counseling (Geneva, Switzerland).
21:307-316.
2010
|
|
| 2010
|
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Journal of the American Academy of Dermatology.
63:440-447.
2010
|
|
| 2010
|
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.
Genetic Testing and Molecular Biomarkers.
14:505-510.
2010
|
|
| 2010
|
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.
Human Mutation.
31:552-560.
2010
|
|
| 2010
|
Error in a study of the clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Journal of the American Medical Association.
303:2476-2477.
2010
|
|
| 2010
|
NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome.
Cell.
142:218-229.
2010
|
|
| 2010
|
Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis Type 2: Case report.
Journal of Neurosurgery.
112:81-87.
2010
|
|
| 2009
|
Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.
European Journal of Medical Genetics.
52:409-414.
2009
|
|
| 2009
|
Correction: Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association (Cancer Research (2009) 69, (7393-7401)).
Cancer Research.
69:8216.
2009
|
|
| 2009
|
Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association.
Cancer Research.
69:7393-7401.
2009
|
|
| 2009
|
Proteasomal and Genetic Inactivation of the NF1 Tumor Suppressor in Gliomagenesis.
Cancer Cell.
16:44-54.
2009
|
|
| 2009
|
Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression.
Bone.
44:243-250.
2009
|
|
| 2009
|
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Journal of the American Medical Association.
302:2111-2118.
2009
|
|
| 2009
|
Planning the human variome project: The Spain report.
Human Mutation.
30:496-510.
2009
|
|
| 2008
|
NF1 mutational spectrum.
Monographs in human genetics.
16:63-77.
2008
|
|
| 2008
|
Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
American Journal of Medical Genetics Part A.
146:2937-2943.
2008
|
|
| 2008
|
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.
Ophthalmic Genetics.
29:133-138.
2008
|
|
| 2008
|
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.
Human Mutation.
29:299-305.
2008
|
|
| 2008
|
Clinical significance of a novel single nucleotide polymorphism in the 5′ untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.
Frontiers in Bioscience-Landmark.
13:1050-1061.
2008
|
|
| 2008
|
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.
Journal of Investigative Dermatology.
128:1050-1053.
2008
|
|
| 2007
|
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nature Genetics.
39:1120-1126.
2007
|
|
| 2007
|
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption.
Human Mutation.
28:599-612.
2007
|
|
| 2007
|
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation.
American Journal of Human Genetics.
80:140-151.
2007
|
|
| 2007
|
Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?.
Chest.
132:798-808.
2007
|
|
| 2007
|
Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1..
Journal of Medical Genetics.
44.
2007
|
|
| 2007
|
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.
American Journal of Human Genetics.
81:243-251.
2007
|
|
| 2006
|
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
Nature Genetics.
38:1419-1423.
2006
|
|
| 2006
|
Real-time quantitative allele discrimination assay using 3′ locked nucleic acid primers for detection of low-percentage mosaic mutations.
Analytical Biochemistry.
359:144-146.
2006
|
|
| 2006
|
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
Human Mutation.
27:1030-1040.
2006
|
|
| 2006
|
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients
2006
|
|
| 2006
|
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).
American Journal of Medical Genetics Part A.
140:1647-1654.
2006
|
|
| 2006
|
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: Hyperpigmentation of a different kind?.
Archives of Dermatological Research.
297:439-449.
2006
|
|
| 2006
|
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.
Human Molecular Genetics.
15:1015-1023.
2006
|
|
| 2006
|
Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes.
Journal of Investigative Dermatology.
126:653-659.
2006
|
|
| 2006
|
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
2006
|
|
| 2006
|
Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt.
Biochemical and Biophysical Research Communications.
340:1200-1208.
2006
|
|
| 2006
|
Double inactivation of NF1 in tibial pseudarthrosis.
American Journal of Human Genetics.
79:143-148.
2006
|
|
| 2006
|
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Journal of Medical Genetics.
43:28-38.
2006
|
|
| 2005
|
Neurofibromatosis-Noonan Syndrome: Molecular evidence of the concurrence of both disorders in a patient.
American Journal of Medical Genetics Part A.
136 A:242-245.
2005
|
|
| 2005
|
Recent molecular insights in hereditary breast and ovarian cancer in Belgium.
Tijdschrift voor geneeskunde.
61:1053-1060.
2005
|
|
| 2005
|
Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1..
Journal of Medical Genetics.
42.
2005
|
|
| 2005
|
An interstitial deletion of chromosome 7 at band q21: A case report and review.
American Journal of Medical Genetics Part A.
134 A:12-23.
2005
|
|
| 2005
|
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Journal of Medical Genetics.
42:336-349.
2005
|
|
| 2005
|
Pigment cell-related manifestations in neurofibromatosis type 1: An overview.
Pigment Cell and Melanoma Research.
18:13-24.
2005
|
|
| 2005
|
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
American Journal of Human Genetics.
77:205-218.
2005
|
|
| 2005
|
Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
European Journal of Human Genetics.
13:52-58.
2005
|
|
| 2004
|
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Human Mutation.
24:491-501.
2004
|
|
| 2004
|
Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1
2004
|
|
| 2004
|
The human FOXL2 mutation database.
Human Mutation.
24:189-193.
2004
|
|
| 2004
|
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.
British Journal of Cancer.
90:1244-1251.
2004
|
|
| 2004
|
Neurofibromin is actively transported to the nucleus.
FEBS Letters.
560:98-102.
2004
|
|
| 2004
|
A New Type of Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda.
American Journal of Medical Genetics Part A.
125 A:49-56.
2004
|
|
| 2004
|
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda..
American Journal of Medical Genetics Part A.
125A:49-56.
2004
|
|
| 2004
|
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.
Human Genetics.
114:284-290.
2004
|
|
| 2004
|
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
2004
|
|
| 2003
|
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
2003
|
|
| 2003
|
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
American Journal of Human Genetics.
72:478-487.
2003
|
|
| 2003
|
Independent NF1 mutations in two large families with spinal neurofibromatosis [1].
Journal of Medical Genetics.
40:122-126.
2003
|
|
| 2003
|
Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors.
Cancer Genetics.
143:120-124.
2003
|
|
| 2003
|
Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.
Human Genetics.
113:188-190.
2003
|
|
| 2002
|
Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition.
British Journal of Cancer.
87:1379-1385.
2002
|
|
| 2002
|
Evolution and expression of FOXL2 [1].
Journal of Medical Genetics.
39:916-921.
2002
|
|
| 2002
|
Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.
BJU International.
90:76-83.
2002
|
|
| 2002
|
Quantification of NF1 transcripts reveals novel highly expressed splice variants.
FEBS Letters.
522:71-76.
2002
|
|
| 2002
|
Complex splicing generates great diversity in human NFI transcripts.
BMC Genomics.
3.
2002
|
|
| 2002
|
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
American Journal of Medical Genetics Part A.
108:315-318.
2002
|
|
| 2002
|
Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.
Cancer Research.
62:1503-1509.
2002
|
|
| 2002
|
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
Prenatal Diagnosis.
22:22-28.
2002
|
|
| 2002
|
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
European Journal of Human Genetics.
10:334-338.
2002
|
|
| 2002
|
FOXL2 mutation screening in a large panel of POF patients and XX males..
Journal of Medical Genetics.
39.
2002
|
|
| 2002
|
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5′ end of the BRCA1 gene.
Oncogene.
21:4171-4175.
2002
|
|
| 2002
|
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)..
Prenatal Diagnosis.
22:22-28.
2002
|
|
| 2001
|
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation.
Human Molecular Genetics.
10:1591-1600.
2001
|
|
| 2001
|
Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.
DNA and Cell Biology.
20:41-52.
2001
|
|
| 2001
|
Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.
European Journal of Gastroenterology and Hepatology.
13:1077-1081.
2001
|
|
| 2001
|
Carrier screening for cystic fibrosis in a prenatal setting.
Genetic Testing and Molecular Biomarkers.
5:117-125.
2001
|
|
| 2001
|
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Human Genetics.
108:51-54.
2001
|
|
| 2000
|
A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families..
Casopis lekaru ceskych.
139:635-637.
2000
|
|
| 2000
|
Occurrence of scleroderma in monozygotic twins.
Journal of Rheumatology.
27:2267-2269.
2000
|
|
| 2000
|
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.
Genomics.
68:296-304.
2000
|
|
| 2000
|
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Human Mutation.
15:541-555.
2000
|
|
| 2000
|
New insights in the molecular causes of familial breast and ovarian cancer.
Tijdschrift voor geneeskunde.
56:473-483.
2000
|
|
| 2000
|
Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.
Journal of Investigative Dermatology.
114:731-733.
2000
|
|
| 2000
|
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects..
Human Mutation.
15:541-555.
2000
|
|
| 2000
|
Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients with hereditary hemochromatosis.
Acta Gastro-Enterologica Belgica.
63:250-253.
2000
|
|
| 2000
|
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations.
American Journal of Human Genetics.
67:207-212.
2000
|
|
| 1999
|
Hereditary hemochromatosis: From cells and the iron age to genetic diagnosis [1].
Tijdschrift voor geneeskunde.
55:770.
1999
|
|
| 1999
|
Closing in on the BPES gene on 3q23: Mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) Breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint.
Genomics.
57:70-78.
1999
|
|
| 1999
|
Hereditary hemochromatosis: From cells and the iron age to genetic diagnosis.
Tijdschrift voor geneeskunde.
55:143-147.
1999
|
|
| 1999
|
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Genetics in Medicine.
1:248-253.
1999
|
|
| 1999
|
Genetic counselling and testing for hereditary breast and ovarian cancer: The gent(le) approach.
Disease Markers.
15:191-195.
1999
|
|
| 1999
|
Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3 A > G.
Disease Markers.
15:69-73.
1999
|
|
| 1999
|
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online..
Human Mutation.
13:256.
1999
|
|
| 1999
|
Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the automated laser fluorescence DNA sequencer.
Fertility and Sterility.
71:163-166.
1999
|
|
| 1998
|
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.
Human Genetics.
103:497-505.
1998
|
|
| 1998
|
Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25→q26.1 by in situ hybridization.
Cytogenetic and Genome Research.
82:228-229.
1998
|
|
| 1998
|
Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization.
Cytogenetic and Genome Research.
82:226-227.
1998
|
|
| 1998
|
Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization.
Cytogenetic and Genome Research.
83:240-241.
1998
|
|
| 1998
|
Human myosin V gene produces different transcripts in a cell type-specific manner.
Biochemical and Biophysical Research Communications.
252:329-333.
1998
|
|
| 1998
|
Chondrodysplasia punctata with multiple congenital anomalies: A new syndrome?
1998
|
|
| 1998
|
Molecular analysis of 1p36 breakpoints in two merkel cell carcinomas
1998
|
|
| 1998
|
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.
American Journal of Medical Genetics Part A.
77:188-197.
1998
|
|
| 1998
|
Application of fluorescence in situ hybridization to the identification of different marker chromosomes.
European Journal of Medical Genetics.
41:5-10.
1998
|
|
| 1998
|
Genetics in ophthalmology..
Bulletin de la Societe belge d'ophtalmologie.
269:1-244.
1998
|
|
| 1997
|
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
Human Genetics.
101:75-80.
1997
|
|
| 1997
|
Analysis of 22 cystic fibrosis mutations in 62 patients from the flanders, Belgium, reveals a high prevalence of nordic mutation 394delTT.
Human Mutation.
10:236-238.
1997
|
|
| 1997
|
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
American Journal of Medical Genetics Part A.
71:479-485.
1997
|
|
| 1997
|
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome..
American Journal of Medical Genetics Part A.
71:479-485.
1997
|
|
| 1997
|
Activated protein C resistance: Case reports and review of the literature.
Tijdschrift voor geneeskunde.
53:269-273.
1997
|
|
| 1997
|
Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT..
Human Mutation.
10:236-238.
1997
|
|
| 1997
|
Identification of two different mutations causing protein s deficiency in two unrelated belgian families using a nonisotopic scanning and sequencing method
1997
|
|
| 1996
|
Report of the sixth international workshop on human chromosome 3 mapping 1995.
Cytogenetic and Genome Research.
72:255270.
1996
|
|
| 1996
|
Novel frameshift mutation in a heterozygous woman with fabry disease and end-stage renal failure.
American Journal of Nephrology.
16:352-357.
1996
|
|
| 1996
|
Refined genetic and physical mapping of BPES type II.
European Journal of Human Genetics.
4:34-38.
1996
|
|
| 1996
|
Report of the sixth international workshop on human chromosome 3 mapping 1995..
Cytogenetic and Genome Research.
72:255-270.
1996
|
|
| 1995
|
An in vitro model for chick embryonic notochords
1995
|
|
| 1993
|
Lack of independence between five DNA polymorphisms in the NF1 gene.
Human Molecular Genetics.
2:485.
1993
|
|
| 1991
|
Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitro..
In vitro cellular & developmental biology : journal of the Tissue Culture Association.
27A:369-380.
1991
|
|
| 1991
|
Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitro.
In vitro cellular & developmental biology : journal of the Tissue Culture Association.
27:369-380.
1991
|
|
| 1987
|
Qualitative and quantitative analysis of tumour invasion in vivo and in vitro.
Journal of cell science. Supplement.
141-163.
1987
|
|
| 1987
|
Pathology of tumours produced in syngeneic fischer rats by fibroblast-like cells before and after transfection with oncogenes
1987
|
|
| 1986
|
Invasiveness and Metastatic Capability of Rat Fibroblast-like Cells before and after Transfection with Immortalizing and Transforming Genes.
Cancer Research.
46:4787-4795.
1986
|
|
