H. Dauwerse

发表

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

G. van Ommen, Annemieke Aartsma-Rus, H. Venselaar, 2016, Brain : a journal of neurology.

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

J. van der Grond, J. Polke, M. Bernal-Quirós, 2016, Annals of clinical and translational neurology.

Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

R. Vossen, S. Anvar, J. D. den Dunnen, 2017, Human mutation.

Two‐colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia

A. Hagemeijer, M. Breuning, R. Giles, 1999, British journal of haematology.

Inversion 16 and translocation (16;16) in ANLL M4eo break in the same subregion of the short arm of chromosome 16.

G. Beverstock, H. Wessels, H. Dauwerse, 1991, Cancer genetics and cytogenetics.

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

R. Hennekam, G. van Ommen, C. V. van Karnebeek, 2000, Journal of medical genetics.

Diagnostic analysis of th Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations Petrij,

R. Hennekam, A. Haeringen, C. Karnebeek, 2000 .

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 2000, Journal of medical genetics.

A case of de novo interstitial deletion of chromosome 5(q33q34)

J. Giltay, H. Dauwerse, K. Gerssen-Schoorl, 1997, Clinical genetics.

Mutations in ABCC6 cause pseudoxanthoma elasticum

M. Kool, F. Baas, S. Terry, 2000, Nature Genetics.

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

Dana S. Poole, Annemieke Aartsma-Rus, A. M. van den Maagdenberg, 2015, Acta neuropathologica communications.

RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts.

A. Hagemeijer, B. V. D. Reijden, R. Giles, 1995, Blood.

Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

R. Hennekam, J. Dorsman, R. Hennekam, 2000, American journal of medical genetics.

University of Groningen Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing Borràs,

R. Vossen, S. Anvar, H. Buermans, 2017 .

CHAPTER 2 * HQRW \ SH SKHQRW \ SH FRUUHODWLRQ LQ SDWLHQWV VXVSHFWHG RI KDYLQJ 6 RWRV V \ QGURPH

S. Cessie, R. Hennekam, J. Wit, 2006 .

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

E. Bakker, R. Frants, J. Hewitt, 1998, Human molecular genetics.

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35

C. Wijmenga, G. V. van Ommen, R. Frants, 1995, Muscle & nerve. Supplement.

Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

J. D. den Dunnen, N. Datson, J. Murray, 1996, American journal of human genetics.

Vector-Alu PCR: a rapid step in mapping cosmids and YACs.

C. Tops, J. Wijnen, C. Breukel, 1990, Nucleic acids research.

Chromosomal localization of the 5-HT1F receptor gene: no evidence for involvement in response to sumatriptan in migraine patients.

R. Ophoff, M. Ferrari, S. Naylor, 1998, American journal of medical genetics.

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

R. Hennekam, D. Wieczorek, D. Peters, 2009, American journal of medical genetics. Part A.

Rubinstein-Taybi Syndrome Caused by Submicroscopic Deletions within 16p 1 3.3

H. Himmelbauer, R. Hennekam, Y. Kuroki, 2006 .

THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

Siep Thomas, S. Verhoef, J. Hughes, 1994 .

Interstitial duplication in the proximal long arm of chromosome 16

C. Ruivenkamp, S. Kant, K. Hansson, 2010, American journal of medical genetics. Part A.

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Raoul C. M. Hennekam, Rachel H. Giles, Niels Tommerup, 1995, Nature.

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

L. Gaunt, F. Petrij, D. Donnai, 1996, Journal of medical genetics.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

E. Mariman, H. Himmelbauer, R. Stallings, 1993, American journal of human genetics.

Cloning of Mycobacterium bovis BCG DNA and expression of antigens in Escherichia coli

L. Schouls, P. Das, J. V. van Embden, 1985, Infection and immunity.

Genomic imbalances in mental retardation

J. D. den Dunnen, G. V. van Ommen, S. White, 2004, Journal of Medical Genetics.

Mechanisms of MRP over‐expression in four human lung‐cancer cell lines and analysis of the MRP amplicon

F. Baas, P. Borst, M. Breuning, 1995, International journal of cancer.

Rapid detection of polymorphism near gene for adult polycystic kidney disease

J. Saris, M. Breuning, H. Dauwerse, 1990, The Lancet.

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

N. Carter, H. Fiegler, H. Tanke, 2006, Human Genetics.

Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions

M. Breuning, D. Peters, H. Baelde, 2005, European Journal of Human Genetics.

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.

J E Hewitt, R. Frants, J. Hewitt, 1996, Human molecular genetics.

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

R. Frants, S. V. D. Maarel, E. Sterrenburg, 2007, Chromosoma.

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

C. Wijmenga, G. van Ommen, R. Williamson, 1992, Nature genetics.

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

D. Housman, F. Baas, V. Stanton, 1992, Nature Genetics.

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

Dana S. Poole, Annemieke Aartsma-Rus, A. M. van den Maagdenberg, 2015, Acta neuropathologica communications.

Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

R. Hennekam, S. le Cessie, B. Hamel, 2004, Hormone Research in Paediatrics.

Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

C. Wijmenga, A. Hagemeijer, J. Gabert, 1999, Oncogene.

Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers

Cestmir Vlcek, Anastassis Perrakis, Tom van Wezel, 2002, Nature Genetics.

Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?

G. Calin, R. Fodde, R. Smits, 1999, European Journal of Human Genetics.

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

L. Deaven, N. Doggett, A. D. den Hollander, 1997, Genomics.

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

Y. Makita, M. Masuno, Y. Kuroki, 1994, American journal of medical genetics.

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

N. Agnantis, G. Fountzilas, A. Apessos, 2005, BMC Cancer.

A10-cM YAC Contig Spanning GLC1A, the Primary Open-Angle Glaucoma Locus at 1q23–q25

J. Morissette, J. Weissenbach, C. Desmaze, 1996, European journal of human genetics : EJHG.

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles

S. M. van der Maarel, H. Dauwerse, G. Padberg, 2003, Neurology.

Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins?

M. Breuning, R. Giles, G. van Ommen, 1998, American journal of human genetics.

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

B. Veldhuisen, M. Breuning, D. Peters, 1999, European Journal of Human Genetics.

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

R. Fodde, R. B. van der Luijt, H. Vasen, 1995, Genes, chromosomes & cancer.

Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product.

J. D. den Dunnen, N. Datson, G. van Ommen, 1996, Nucleic acids research.

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

D. Hernandez, A. Singleton, K. Fischbeck, 2008, Human molecular genetics.

Trisomy First, Translocation Second, Uniparental Disomy and Partial Trisomy Third: A New Mechanism for Complex Chromosomal Aneuploidy

L. Brečević, W. Robinson, A. Schinzel, 1997, European journal of human genetics : EJHG.

Mechanisms of MRP over‐expression in four human lung‐cancer cell lines and analysis of the MRP amplicon

F. Baas, P. Borst, M. Breuning, 1995, International journal of cancer.

CBFB/MYH11 fusion in a patient with AML‐M4Eo and cytogenetically normal chromosomes 16

M. König, O. Haas, U. Jäger, 2000, Genes, chromosomes & cancer.

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA

C. van Broeckhoven, J. D. den Dunnen, M. Cruts, 1999, Mammalian Genome.