K. Hansson

发表

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Markus J. van Roosmalen, E. Cuppen, E. van Binsbergen, 2012, Cell reports.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

S. Tapscott, S. Kiuru-Enari, I. Nishino, 2016, American journal of human genetics.

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features

G. Marijnissen, C. Ruivenkamp, M. Breuning, 2010, American journal of medical genetics. Part A.

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

W. Kloosterman, C. Ruivenkamp, G. Santen, 2015, American journal of medical genetics. Part A.

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients

A. Green, P. Devilee, A. Wagner, 2010, Human mutation.

Interstitial deletion of 6q without phenotypic effect

A. van Haeringen, J. Knijnenburg, K. Szuhai, 2007, American journal of medical genetics. Part A.

Clinical Report Interstitial Deletion of 6q Without Phenotypic Effect

A. Haeringen, J. Knijnenburg, K. Szuhai, 2007 .

Interstitial duplication in the proximal long arm of chromosome 16

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

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.

M. Breuning, D. Peters, K. Hansson, 2006, Fertility and sterility.

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

Hans Tanke, Anton K. Raap, Martijn H. Breuning, 2000, Human Genetics.

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

T. Visser, E. Bakker, H. K. V. van Amstel, 2009, American journal of medical genetics. Part A.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.

A near false‐negative finding of mosaic trisomy 21—a cautionary tale

F. Klumper, J. Roosmalen, G. Beverstock, 1998, Prenatal diagnosis.

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.

Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24

Z. Tümer, N. Tommerup, L. Larsen, 2009, American journal of medical genetics. Part A.

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

K. Hansson, L. Stockmann, L. Govaerts, 2014, Journal of autism and developmental disorders.

Molecular and clinical characterization of patients with a ring chromosome 11.

C. Ruivenkamp, S. Kant, K. Hansson, 2012, European journal of medical genetics.

The clinical spectrum of complete FBN1 allele deletions

G. Pals, J. Timmermans, H. Moll, 2011, European Journal of Human Genetics.

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

S. van Rijn, C. V. van Ravenswaaij-Arts, K. Hansson, 2013, Journal of Autism and Developmental Disorders.

Tall stature and duplication of the insulin-like growth factor I receptor gene.

J. Clayton-Smith, J. Wit, M. Breuning, 2007, European journal of medical genetics.

Bannayan–Riley–Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases

L. Hoefsloot, M. Breuning, S. Kant, 2004, Familial Cancer.

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

D. Smeets, S. M. van der Maarel, K. Hansson, 2007, Neurology.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

E. Bakker, Y. Hilhorst‐Hofstee, L. Laan, 2007, European journal of medical genetics.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.