Ghent University Academic Bibliography

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- Conference Paper
- C3
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval

M Cruts, R Rademakers, Bart Dermaut (UGent) , K Sleegers, SM Rosso, M Van den Broeck, H Backhovens, J van Swieten, CM van Duijn and C Van Broeckhoven

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 114(7). p.828-828
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- Conference Paper
- C3
Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): no effect of APOE genotype

S Engelborghs, Bart Dermaut (UGent) , M Cruts, C Van Broeckhoven and PP De Deyn

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 114(7). p.828-829
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- Conference Paper
- C3
Systematic analysis of the effect of novel Alzheimer disease PS1/2 mutations on A beta secretion

J Theuns, S Kumar-Singh, Bart Dermaut (UGent) , K Vennekens, E Corsmit, M Cruts, CM Van Duijn and C Van Broeckhoven

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 114(7). p.833-834
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Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the Rotterdam study

G Roks, M Cruts, JJ Houwing-Duistermaat, Bart Dermaut (UGent) , S Serneels, LM Havekes, A Hofman, MMB Breteler, C Van Broeckhoven and CM van Duijn

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 114(5). p.570-573
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- Journal Article
- A1
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

Stefan Vermeulen (UGent) , Ludwine Messiaen, P SCHEIR, Sylvia De Bie (UGent) , Franki Speleman (UGent) and Anne De Paepe (UGent)

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 108(4). p.315-318
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Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

C Giunta, Lieve Nuytinck (UGent) , M Raghunath, I Hausser, Anne De Paepe (UGent) and B Steinmann

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 109(4). p.284-290
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- Journal Article
- A1
International Nosology and Classification of Constitutional Disorders of Bone (2001).

CM HALL

(2002) AMERICAN JOURNAL OF MEDICAL GENETICS. 113(1). p.65-77
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- Journal Article
- A1
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

BM ANDERLID, S SAHLEN, J SCHOUMANS, E HOLMBERG, I AHSGREN, Geert Mortier (UGent) , Franki Speleman (UGent) and E BLENNOW

(2001) AMERICAN JOURNAL OF MEDICAL GENETICS. 99(3). p.223-233
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- Journal Article
- A1
Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.

A MEGARBANE, MM RUCHOUX, Bart Loeys (UGent) , N AYOUB and Lieve Nuytinck (UGent)

(2001) AMERICAN JOURNAL OF MEDICAL GENETICS. 104(3). p.221-224
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- Journal Article
- A1
Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 -> qter: Molecular cytogenetic analysis and clinical phenotype in two generations.

Franki Speleman (UGent) , B CALLENS, Karl Logghe (UGent) , Nadine Van Roy (UGent) , A JAUCH, MR VERSCHRAEGEN-SPAE and JG LEROY

(2000) AMERICAN JOURNAL OF MEDICAL GENETICS. 93(5). p.349-354

Academic Bibliography

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval

Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): no effect of APOE genotype

Systematic analysis of the effect of novel Alzheimer disease PS1/2 mutations on A beta secretion

Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the Rotterdam study

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

International Nosology and Classification of Constitutional Disorders of Bone (2001).

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.

Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 -> qter: Molecular cytogenetic analysis and clinical phenotype in two generations.

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