Ghent University Academic Bibliography

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Your filters: cql: author="FRYNS, JP" or (type exact bookEditor and editor="FRYNS, JP")

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Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haene, Jan Hellemans, Margarita Craen (UGent) , Jean De Schepper (UGent) , K Devriendt, JP Fryns, K Keymolen, Eveline Debals (UGent) , A de Klein, EM de Jong, et al.

(2010) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 95(6). p.3010-3018
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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

B Thienpont, F Bena, J Breckpot, N Philip, Björn Menten (UGent) , H Van Esch, E Scalais, JM Salamone, CT Fong, JL Kussmann, et al.

(2010) JOURNAL OF MEDICAL GENETICS. 47(3). p.155-161
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

BWM van Bon, HC Mefford, Björn Menten (UGent) , DA Koolen, AJ Sharp, WM Nillesen, JW Innis, TJL de Ravel, CL Mercer, M Fichera, et al.

(2009) JOURNAL OF MEDICAL GENETICS. 46(8). p.511-523
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Abnormal first trimester screen in partial deletion of chromosome 6p21: A case-report

MH HULSBERGEN, Serge Van Calenbergh (UGent) and JP FRYNS

(2007) GENETIC COUNSELING. 18(2). p.243-245
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn Menten (UGent) , N MAAS, B THIENPONT, Karen Buysse (UGent) , Jo Vandesompele (UGent) , C MELOTTE, T DE RAVEL, S VAN VOOREN, I BALIKOVA, L BACKX, et al.

(2006) JOURNAL OF MEDICAL GENETICS. 43(8).
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Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis

JR VERMEESCH, C MELOTTE, G FROYEN, S VAN VOOREN, B DUTTA, N MAAS, S VERMEULEN, Björn Menten (UGent) , Franki Speleman (UGent) , B DE MOOR, et al.

(2005) JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY. 53(3). p.413-422
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Speech and language in Wolf-Hirschhorn syndrome: a case-study

John Van Borsel (UGent) , S DE GRANDE, G VAN BUGGENHOUT and JP FRYNS

(2004) JOURNAL OF COMMUNICATION DISORDERS. 37(1). p.21-33
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Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders

A VOGELS, J VAN DEN ENDE, K KEYMOLEN, Geert Mortier (UGent) , K DEVRIENDT, E LEGIUS and JP FRYNS

(2004) EUROPEAN JOURNAL OF HUMAN GENETICS. 12(3). p.238-240
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- Journal Article
- A2
CHIRURGISCHE AANPAK EN GENETISCHE DIAGNOSE BIJ EEN KIND MET SYNDROOM VAN MUENKE.

F VAN CALENBERGH, J SCHOENAERS, F SCHUTYSER, P CASAER, Geert Mortier (UGent) and JP FRYNS

(2002) TIJDSCHRIFT VOOR GENEESKUNDE. 58. p.461-465
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Occipital Horn syndrome in a 2-year-old boy.

Anne De Paepe (UGent) , Bart Loeys (UGent) , K DEVRIENDT and JP FRYNS

(1999) CLINICAL DYSMORPHOLOGY. 8(3). p.179-183
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The annual incidence of DiGeorge/velocardiofacial syndrome.

K DEVRIENDT, JP FRYNS and Geert Mortier (UGent)

(1998) JOURNAL OF MEDICAL GENETICS. 35(9). p.789-790
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Hyperacusis in Williams syndrome: A sample survey study.

John Van Borsel (UGent) , LMG CURFS and JP FRYNS

(1997) GENETIC COUNSELING. 8(2). p.121-126
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Lens dislocation and optic-nerve hypoplasia in ring chromosome-21 mosaicism.

Françoise Meire (UGent) and JP FRYNS

(1994) ANNALES DE GENETIQUE. 37(3). p.150-152

Academic Bibliography

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Abnormal first trimester screen in partial deletion of chromosome 6p21: A case-report

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis

Speech and language in Wolf-Hirschhorn syndrome: a case-study

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders

CHIRURGISCHE AANPAK EN GENETISCHE DIAGNOSE BIJ EEN KIND MET SYNDROOM VAN MUENKE.

Occipital Horn syndrome in a 2-year-old boy.

The annual incidence of DiGeorge/velocardiofacial syndrome.

Hyperacusis in Williams syndrome: A sample survey study.

Lens dislocation and optic-nerve hypoplasia in ring chromosome-21 mosaicism.

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