A. Maat-Kievit

发表

Memory and learning are not impaired in presymptomatic individuals with an increased risk of Huntington's disease.

A. Jennekens‐Schinkel, G. M. de Boo, A. Tibben, 1999, Journal of clinical and experimental neuropsychology.

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

B. Oostra, E. Brilstra, G. Breedveld, 2012, Neurology.

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

P. Heutink, B. Oostra, J. V. van Swieten, 2006, Movement disorders : official journal of the Movement Disorder Society.

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

M. Lequin, G. Mancini, D. Halley, 2012, American journal of medical genetics. Part A.

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds

M. Wentink, A. V. D. van den Ouweland, M. Nellist, 2012, Clinical genetics.

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

A. Ouweland, W. Arts, J. Millán, 2011, European Journal of Human Genetics.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Stephanie E. Vallee, R. Ekong, M. Wentink, 2011, Human mutation.

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.

A. V. D. van den Ouweland, M. Nellist, D. Halley, 2010, Biochimica et biophysica acta.

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

A. Ouweland, M. Goedbloed, F. Jansen, 2009, European Journal of Human Genetics.

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation

F. Dubeau, F. Andermann, A. V. D. van den Ouweland, 2006, Annals of neurology.

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

A. Ouweland, S. Verhoef, M. Goedbloed, 2005, European Journal of Human Genetics.

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

A. V. D. van den Ouweland, M. Goedbloed, D. Lindhout, 2005, Genetic testing.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

J. T. Dunnen, B. Oostra, B. P. Warrenburg, 2013, Human mutation.

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

J. Cruysberg, A. Maat-Kievit, M. Tjon-Fo-Sang, 2013, British Journal of Ophthalmology.

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

A. V. D. van den Ouweland, B. Horsthemke, G. Gillessen‐kaesbach, 1996, Journal of medical genetics.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles

G. van Ommen, M. Losekoot, M. Breuning, 2001, Journal of medical genetics.

A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm.

A. Tibben, A. Maat-Kievit, M. Zoeteweij, 2002, Family process.

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

A. Maat-Kievit, Caroline Cheng, H. Duckers, 2011, European Journal of Human Genetics.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

Elmar Krieger, Peter Heutink, Ben A. Oostra, 2003 .

Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987–1997)

M. Losekoot, A. van Haeringen, A. Maat-Kievit, 1999, Prenatal diagnosis.

Functional characterisation of the TSC 1 – TSC 2 complex to assess multiple TSC 2 variants identified in single families affected by tuberous sclerosis complex

A. Ouweland, M. Goedbloed, M. Nellist, 2008 .

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

A. V. D. van den Ouweland, M. Goedbloed, M. Nellist, 2008, BMC Medical Genetics.

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

J. Dauwerse, G. Terwindt, A. Maat-Kievit, 2013, Human mutation.

Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7-10 years after the test.

R. Roos, R. Timman, A. Tibben, 2004, Health psychology : official journal of the Division of Health Psychology, American Psychological Association.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Paradox of a better test for Huntington's disease

A. Haeringen, M. Losekoot, A. van Haeringen, 2000, Journal of neurology, neurosurgery, and psychiatry.

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex

A. Nakashima, A. V. D. van den Ouweland, U. Kikkawa, 2014, PloS one.

Two additional cases of the Ohdo blepharophimosis syndrome.

H. Brunner, A. Maat-Kievit, P. Maaswinkel-Mooij, 1993, American journal of medical genetics.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

A. V. D. van den Ouweland, A. de Klein, F. Jansen, 2015, BMC Medical Genetics.

Predictability of Age at Onset in Huntington Disease in the Dutch Population

G. van Ommen, M. Losekoot, M. Breuning, 2002, Medicine.

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease.

P. de Knijff, M. Losekoot, M. Breuning, 2001, American journal of medical genetics.

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

Elmar Krieger, Peter Heutink, E. Krieger, 2003, American journal of human genetics.

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

Golder N Wilson, N. Philip, J. Fryns, 1994, European Journal of Pediatrics.

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

B. Oostra, A. Verkerk, A. Bertoli-Avella, 2010, European Journal of Human Genetics.

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred

B. Oostra, A. Maat-Kievit, A. Sas, 2010, Movement disorders : official journal of the Movement Disorder Society.

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

R. Hennekam, S. Bale, H. Baris, 2009, American journal of medical genetics. Part A.

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

H. Smeets, R. Hintzen, W. Sluiter, 2007, Archives of neurology.

Testing the test—why pursue a better test for Huntington disease?

R. Timman, M. Breuning, A. Tibben, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Early cognitive and motor symptoms in identified carriers of the gene for Huntington disease.

A. Jennekens‐Schinkel, G. M. de Boo, A. Tibben, 1997, Archives of neurology.

Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)

A. Ouweland, K. Wimmer, C. Fonatsch, 2013, European Journal of Human Genetics.

Assessing genetic effects in survival data by correlating martingale residuals with an application to age at onset of Huntington disease

A. Zwinderman, H. V. van Houwelingen, R. Roos, 2006, Statistics in medicine.

Estimating decreased risks for Huntington disease without a test

T. Stijnen, B. Bonke, R. Timman, 2008, European Journal of Epidemiology.