Ghent University Academic Bibliography

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Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Paulien A Terhal, Paula van Dommelen, Martine Le Merrer, Andreas Zankl, Marleen EH Simon, Sarah F Smithson, Carlo Marcelis, Bronwyn Kerr, Esther Kinning, Sahar Mansour, et al.

(2012) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 160C(3). p.205-216
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Identification of CANT1 Mutations in Desbuquois Dysplasia

C Huber, B Oules, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, MGEM Ausems, P Bitoun, DP Cavalcanti, et al.

(2009) AMERICAN JOURNAL OF HUMAN GENETICS. 85(5). p.706-710
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Czech dysplasia metatarsal type: another type II collagen disorder

Kristien Hoornaert (UGent) , Ivo Marik, Kazimierz Kozlowski, Trevor Cole, Martine Le Merrer, Juliaan Leroy (UGent) , Paul Coucke (UGent) , David Sillence and Geert Mortier (UGent)

(2007) EUROPEAN JOURNAL OF HUMAN GENETICS. 15(12). p.1269-1275
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- Journal Article
- A1
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

A ZANKL, GC JACKSON, LM CRETTOL, J TAYLOR, R ELLES, Geert Mortier (UGent) , J SPRANGER, B ZABEL, S UNGER, M LE MERRER, et al.

(2007) EUROPEAN JOURNAL OF HUMAN GENETICS. 15(2). p.150-154
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- Journal Article
- A1
Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

L FAIVRE, M LE MERRER, S DOUVIER, N LAURENT, C THAUVIN-ROBINET, T ROUSSEAU, I VEREECKE, P SAGOT, AL DELEZOIDE, Paul Coucke (UGent) , et al.

(2004) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 126A(3). p.308-312
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- Journal Article
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Exclusion of chromosome 9 helps identifying mild variants of acromesomelic dysplasia Maroteaux type.

L FAIVRE, M LE MERRER, A MEGARBANE, B GILBERT, Geert Mortier (UGent) , V CUSIN, A MUNNICH, P MAROTEAUX and V CORMIER-DAIRE

(2000) JOURNAL OF MEDICAL GENETICS. 37(1). p.52-54

Academic Bibliography

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Identification of CANT1 Mutations in Desbuquois Dysplasia

Czech dysplasia metatarsal type: another type II collagen disorder

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

Exclusion of chromosome 9 helps identifying mild variants of acromesomelic dysplasia Maroteaux type.

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