Ans M. W. Ouweland

发表

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

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

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.

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.

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.

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.

Cognitive impairment in tuberous sclerosis complex is a multifactorial condition

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

The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

A. V. D. van den Ouweland, M. Goedbloed, T. Luider, 1997, Laboratory animals.

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

A. V. D. van den Ouweland, M. Goedbloed, M. Nellist, 2001, Human molecular genetics.

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.

Positional cloning of a gene involved in hereditary multiple exostoses.

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

Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression

R. Nussbaum, F. Couch, O. Olopade, 2016 .

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.

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 .

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.