A citation-based method for searching scientific literature




A Tibben, H J Duivenvoorden, M F Niermeijer, M Vegter-van der Vlis, R A Roos, F Verhage. Psychosom Med 1994
Times Cited: 59




List of shared articles



Times cited

Genetic testing for Huntington disease.
Kimberly A Quaid. Handb Clin Neurol 2017
6


Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.
Milena Paneque, Carolina Lemos, Karell Escalona, Lizandra Prieto, Rubén Reynaldo, Mercedes Velázquez, Judith Quevedo, Nieves Santos, Luis Enrique Almaguer, Luis Velázquez,[...]. J Genet Couns 2007
11



Presymptomatic testing in myotonic dystrophy: genetic counselling approaches.
S Fokstuen, J Myring, C Evans, P S Harper. J Med Genet 2001
11

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
J Amiel, V Raclin, J M Jouannic, N Morichon, H Hoffman-Radvanyi, M Dommergues, J Feingold, A Munnich, J P Bonnefont. J Med Genet 2001
5

Psychological studies in Huntington's disease: making up the balance.
M Duisterhof, R W Trijsburg, M F Niermeijer, R A Roos, A Tibben. J Med Genet 2001
42

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.
D Eccles, J Harvey, A Bateman, F Ross. J Med Genet 2001
6

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.
M Montera, F Piaggio, C Marchese, V Gismondi, A Stella, N Resta, L Varesco, G Guanti, C Mareni. J Med Genet 2001
44

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.
V Bourdon, C Philippe, T Bienvenu, B Koenig, M Tardieu, J Chelly, P Jonveaux. J Med Genet 2001
17

Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders.
A Imamura, N Shimozawa, Y Suzuki, Z Zhang, T Tsukamoto, T Orii, T Osumi, N Kondo. J Med Genet 2001
3

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).
I Kobayashi, R Shiari, M Yamada, N Kawamura, M Okano, A Yara, A Iguchi, N Ishikawa, T Ariga, Y Sakiyama,[...]. J Med Genet 2001
87



Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
B Röthlisberger, T Zerova, D Kotzot, T I Buzhievskaya, D Balmer, A Schinzel. J Med Genet 2001
26

Sponastrime dysplasia: presentation in infancy.
A C Offiah, M Lees, R M Winter, C M Hall. J Med Genet 2001
6


Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?
F J Grosfeld, C J Lips, F A Beemer, H F Ten Kroode. J Genet Couns 2000
10



Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.
A Tibben, M Stevens, G M de Wert, M F Niermeijer, C M van Duijn, J C van Swieten. J Med Genet 1997
27