A. Ouweland

发表

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex

E. Aronica, K. Boer, P. Crino, 2008, Epilepsy Research.

Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

Ben A. Oostra, B. D. de Vries, A. V. D. van den Ouweland, 1997 .

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 .

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

D. Halley, A. V. D. Ouweland, C. Wouters, 2011, European Journal of Human Genetics.

Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183)

P. Riegman, L. Wilming, A. Hagemeijer, 1995, Human Genetics.

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting

H. Meijers-Heijboer, S. Verhoef, R. Hofstra, 2006, Human mutation.

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

A. V. D. van den Ouweland, A. Wilkie, A. V. D. Ouweland, 2004, Human Genetics.

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

S. Twigg, A. Wilkie, J. Goos, 2013, European Journal of Human Genetics.

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.

A. V. D. van den Ouweland, D. Halley, R. Weber, 1999, Human reproduction.

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

H. Meijers-Heijboer, R. Hennekam, D. Halley, 1995, Human Genetics.

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

R. Snell, A. V. D. van den Ouweland, P. Sluijs, 1998, Human molecular genetics.

Leukemia associated NF1 inactivation in pediatric T-ALL and AML patients lacking evidence for neurofibromatosis

R. Pieters, D. Reinhardt, J. Meijerink, 2008 .

Mental status of females with an FMR1 gene full mutation.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1996, American journal of human genetics.

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1998, American journal of human genetics.

A combined analysis of genome-wide association studies in breast cancer

Anbupalam Thalamuthu, Kamila Czene, Maartje J. Hooning, 2011, Breast Cancer Research and Treatment.

Compliance with periodic surveillance for Von-Hippel-Lindau disease

N. Aaronson, S. Verhoef, E. Bleiker, 2011, Genetics in Medicine.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

B. D. de Vries, A. V. D. van den Ouweland, P. Heutink, 1994, Human molecular genetics.

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

Cosmid Contigs from the Tuberous Sclerosis Candidate Region on Chromosome 9q34

P. Jong, D. Kwiatkowski, B. Janssen, 1995, European journal of human genetics : EJHG.

Positional cloning of a gene involved in hereditary multiple exostoses.

B. D. de Vries, N. Nowak, T. Shows, 1996, Human molecular genetics.

High rate of mosaicism in tuberous sclerosis complex.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1999, American journal of human genetics.

Recurrent mutation 4882delTT in the GAP‐related domain of the tuberous sclerosis TSC2 gene

S. Verhoef, D. Lindhout, S. Jóźwiak, 1998, Human mutation.

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1996, Journal of medical genetics.

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

S. Warren, A. V. D. van den Ouweland, B. Oostra, 1997, Journal of medical genetics.

Cognitive impairment in tuberous sclerosis complex is a multifactorial condition

A. Algra, A. Algra, A. V. D. van den Ouweland, 2008, Neurology.

Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel.

M. Rocchi, W. Vogel, S. Warren, 1992, Genomics.