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Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7.
Published in:
2000
By:
- Potgieter, Steph;
- Matthijs, Gert;
- De Cock, Paul;
- Fryns, Jean-Pierre;
- Potgieter, S;
- Matthijs, G;
- De Cock, P;
- Fryns, J P
Publication type:
Case Study
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
Published in:
1998
By:
- Schrander-Stumpel, C.;
- Fryns, J.-P.
Publication type:
journal article
Vesico-ureteral reflux: a genetic condition?
Published in:
1998
By:
- Devriendt, K.;
- Groenen, P.;
- Van Esch, H.;
- van Dijck, M.;
- Van de Ven, W.;
- Fryns, J. P.;
- Proesmans, W.
Publication type:
journal article
Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.
Published in:
Clinical Genetics, 2012, v. 81, n. 6, p. 584, doi. 10.1111/j.1399-0004.2011.01684.x
By:
- Chabchoub, E;
- Willekens, D;
- Vermeesch, JR;
- Fryns, J-P
Publication type:
Article
DISC1 duplication in two brothers with autism and mild mental retardation.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 389, doi. 10.1111/j.1399-0004.2009.01318.x
By:
- Crepel, A.;
- Breckpot, J.;
- Fryns, J.-P.;
- De la Marche, W.;
- Steyaert, J.;
- Devriendt, K.;
- Peeters, H.
Publication type:
Article
Novel PORCN mutations in focal dermal hypoplasia.
Published in:
Clinical Genetics, 2009, v. 76, n. 6, p. 535, doi. 10.1111/j.1399-0004.2009.01248.x
By:
- Froyen, G.;
- Govaerts, K.;
- van Esch, H.;
- Verbeeck, J.;
- Tuomi, M.-L.;
- Heikkilä, H.;
- Torniainen, S.;
- Devriendt, K.;
- Fryns, J.-P.;
- Marynen, P.;
- Järvel, I.;
- Ala-Mello, S.
Publication type:
Article
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.
Published in:
2006
By:
- Chabchoub, E.;
- de Ravel, T.;
- Thoelen, R.;
- Vermeesch, J. R.;
- Fryns, J .-P.;
- Esch, H. Van
Publication type:
Letter
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Published in:
2004
By:
- Van Esch, H;
- K3Poirier;
- de Zegher, F;
- Holvoet, M;
- Bienvenu, T;
- Chelly, J;
- Devriendt, K;
- Fryns, J-P
Publication type:
Letter
X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.
Published in:
Clinical Genetics, 2002, v. 62, n. 6, p. 423, doi. 10.1034/j.1399-0004.2002.620601.x
By:
- Frints, SGM;
- Froyen, G;
- Marynen, P;
- Fryns, J-P
Publication type:
Article
Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).
Published in:
Clinical Genetics, 2002, v. 62, n. 5, p. 410, doi. 10.1034/j.1399-0004.2002.620510.x
By:
- Debeer, P;
- Mols, R;
- Huysmans, C;
- Devriendt, K;
- Van de Ven, WJM;
- Fryns, J-P
Publication type:
Article
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
Published in:
Clinical Genetics, 2002, v. 62, n. 5, p. 415, doi. 10.1034/j.1399-0004.2002.620511.x
By:
- Vermeesch, JR;
- Baten, E;
- Fryns, J-P;
- Devriendt, K
Publication type:
Article
Autosomal dominant isolated velopharyngeal insufficiency.
Published in:
Clinical Genetics, 2002, v. 61, n. 1, p. 74, doi. 10.1034/j.1399-0004.2002.610115.x
By:
- Vantrappen, G;
- Rommel, N;
- Wellens, W;
- Cremers, CWRJ;
- Fryns, J-P;
- Devriendt, K
Publication type:
Article
Marden-Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene.
Published in:
Clinical Genetics, 1998, v. 54, n. 1, p. 86, doi. 10.1111/j.1399-0004.1998.tb03701.x
By:
- Fryns, J. P.;
- Willekens, D.;
- Schoubroeck, D.;
- Moerman, Ph.
Publication type:
Article
A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.
Published in:
Clinical Genetics, 1997, v. 52, n. 3, p. 135, doi. 10.1111/j.1399-0004.1997.tb02533.x
By:
- Steyaert, J.;
- Umans, S.;
- Willekens, D.;
- Legius, E.;
- Pijkels, E.;
- Die-Smulders, C.;
- Berghe, H.;
- Fryns, J-P.
Publication type:
Article
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion.
Published in:
Clinical Genetics, 1997, v. 51, n. 4, p. 246, doi. 10.1111/j.1399-0004.1997.tb02463.x
By:
- Devriendt, K.;
- Hoestenberghe, R. Van;
- Hole, C. Van;
- Devlieger, H.;
- Gewillig, M.;
- Moerman, Ph.;
- Berghe, H.;
- Fryns, J. P.
Publication type:
Article
Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome.
Published in:
Clinical Genetics, 1996, v. 50, n. 6, p. 505, doi. 10.1111/j.1399-0004.1996.tb02723.x
By:
- Fryns, J. P.;
- Legius, E.;
- Demaerel, Ph.;
- Berghe, H.
Publication type:
Article
The Floating-Harbor syndrome: two affected siblings in a family.
Published in:
Clinical Genetics, 1996, v. 50, n. 4, p. 217, doi. 10.1111/j.1399-0004.1996.tb02629.x
By:
- Fryns, J. P.;
- Kleczkowska, A.;
- Timmermans, J.;
- Berghe, H.
Publication type:
Article
Deletion of the long arm of chromosome 6: two new patients and literature review.
Published in:
Clinical Genetics, 1996, v. 50, n. 3, p. 138, doi. 10.1111/j.1399-0004.1996.tb02368.x
By:
- Evers, L. J. M.;
- Schrander-Stumpel, C. T. R. M.;
- Engelen, J. J. M.;
- Hoorntje, T. M.;
- Pulles-Heintzberger, C. F. M.;
- Schrander, J. J. P.;
- Albrechts, J. C. M.;
- Peters, J.;
- Fryns, J. P.
Publication type:
Article
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin-Lowry syndrome.
Published in:
Clinical Genetics, 1996, v. 50, n. 2, p. 112, doi. 10.1111/j.1399-0004.1996.tb02362.x
By:
- Fryns, J. P.
Publication type:
Article
On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome.
Published in:
Clinical Genetics, 1996, v. 50, n. 1, p. 19, doi. 10.1111/j.1399-0004.1996.tb02340.x
By:
- Petit, P.;
- Schmit, J.;
- Berghe, H.;
- Fryns, J. P.
Publication type:
Article
De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia.
Published in:
Clinical Genetics, 1996, v. 49, n. 4, p. 206, doi. 10.1111/j.1399-0004.1996.tb03288.x
By:
- Legius, E.;
- Wlodarska, I.;
- Selleri, L.;
- Evans, G. A.;
- Wu, R.;
- Smet, G.;
- Fryns, J. P.
Publication type:
Article
Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males.
Published in:
Clinical Genetics, 1995, v. 48, n. 1, p. 54, doi. 10.1111/j.1399-0004.1995.tb04055.x
By:
- Fryns, J. P.;
- Descheemaeker, M. J.
Publication type:
Article
Clinical follow up of a girl with 'mental retardation with pterygia, shortness and distinct facial appearance' (Haspeslagh syndrome).
Published in:
Clinical Genetics, 1995, v. 47, n. 6, p. 332, doi. 10.1111/j.1399-0004.1995.tb03978.x
By:
- Schrander-Stumpel, C. T. R. M.;
- Pulles-Heintzberger, C. F. M.;
- Fryns, J. P.
Publication type:
Article
Normal testicular histology in a mid-trimester 49,XXXXY fetus.
Published in:
Clinical Genetics, 1995, v. 47, n. 6, p. 331, doi. 10.1111/j.1399-0004.1995.tb03977.x
By:
- Fryns, J. P. F.;
- Moerman, Ph.;
- Kleczkowska, A.
Publication type:
Article
Variable expression of the popliteal pterygium syndrome in two 3-generation families.
Published in:
Clinical Genetics, 1995, v. 47, n. 4, p. 169, doi. 10.1111/j.1399-0004.1995.tb03954.x
By:
- Soekarman, D.;
- Cobben, J. M.;
- Vogels, A.;
- Spauwen, P. H.;
- Fryns, J. P.
Publication type:
Article
Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects.
Published in:
Clinical Genetics, 1994, v. 46, n. 2, p. 161, doi. 10.1111/j.1399-0004.1994.tb04218.x
By:
- Plissart, L.;
- Borghgraef, M.;
- Volcke, Ph.;
- Berghe, H.;
- Fryns, J. P.
Publication type:
Article
Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation.
Published in:
Clinical Genetics, 1994, v. 45, n. 6, p. 323, doi. 10.1111/j.1399-0004.1994.tb04041.x
By:
- Smeets, E.;
- Fryns, J. P.;
- Berghe, H.
Publication type:
Article
Partial trisomy and monosomy 8p due to inversion duplication.
Published in:
Clinical Genetics, 1994, v. 45, n. 4, p. 203, doi. 10.1111/j.1399-0004.1994.tb04024.x
By:
- Engelen, J. J. M.;
- Die-Smulders, C. E. M.;
- Fryns, J. P.;
- Hoovers, J. M. N.;
- Albrechts, J. C. M.;
- Loots, W. J. G.;
- Jacobs, M. E.;
- Hamers, A. J. H.
Publication type:
Article
Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.
Published in:
Clinical Genetics, 1993, v. 44, n. 6, p. 281, doi. 10.1111/j.1399-0004.1993.tb03901.x
By:
- Hanssen, A. M. N.;
- Werquin, H.;
- Suys, E.;
- Fryns, J. P.
Publication type:
Article
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
Published in:
Clinical Genetics, 1993, v. 44, n. 3, p. 149, doi. 10.1111/j.1399-0004.1993.tb03867.x
By:
- Fryns, J. P.;
- Stromme, P.;
- Berghe, H.
Publication type:
Article
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/ 14q duplication.
Published in:
Clinical Genetics, 1993, v. 44, n. 3, p. 146, doi. 10.1111/j.1399-0004.1993.tb03866.x
By:
- Fryns, J. P.;
- Borghgraef, M.;
- Lemmens, F.;
- Berghe, H.
Publication type:
Article
Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.
Published in:
Clinical Genetics, 1993, v. 44, n. 3, p. 152, doi. 10.1111/j.1399-0004.1993.tb03868.x
By:
- Legius, E.;
- Mulier, M.;
- Damme, B.;
- Fryns, J. P.
Publication type:
Article
Cytogenetic Findings in Moderate and Severe Mental Retardation A Study of an Institutionalized Population of 1991 Patients.
Published in:
Acta Paediatrica, 1984, v. 73, n. s313, p. 3, doi. 10.1111/j.1651-2227.1984.tb10001.x
By:
- FRYNS, J. P.;
- KLECZKOWSKA, A.;
- KUBIEŃ, E.;
- BERGHE, H. VAN DEN
Publication type:
Article
Complex Chromosomal Rearrangement in a Mentally Retarded Boy without Gross Dysmorphic Stigmata.
Published in:
Acta Paediatrica, 1984, v. 73, n. 1, p. 138, doi. 10.1111/j.1651-2227.1984.tb09914.x
By:
- FRYNS, J. P.;
- KLECZKOWSKA, A.;
- LEBAS, E.;
- GOFFAUX, P.;
- BERGHE, H.
Publication type:
Article
CONGENITAL BOWING OF THE LONG BONES.
Published in:
Acta Paediatrica, 1983, v. 72, n. 5, p. 789, doi. 10.1111/j.1651-2227.1983.tb09816.x
By:
- FRYNS, J. P.;
- ANNICQ, P.;
- ULRIX, M.;
- BERGHE, H.
Publication type:
Article
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Published in:
Molecular Psychiatry, 2010, v. 15, n. 7, p. 767, doi. 10.1038/mp.2009.14
By:
- Laumonnier, F.;
- Shoubridge, C.;
- Antar, C.;
- Nguyen, L. S.;
- Van Esch, H.;
- Kleefstra, T.;
- Briault, S.;
- Fryns, J. P.;
- Hamel, B.;
- Chelly, J.;
- Ropers, H. H.;
- Ronce, N.;
- Blesson, S.;
- Moraine, C.;
- G.écz, J.;
- Raynaud, M.
Publication type:
Article
Acro-Osteolysis and Symphalangism Mutations.
Published in:
Journal of Bone & Mineral Research, 2005, v. 20, n. 1, p. 159, doi. 10.1359/JBMR.041023
By:
- Debeer, P;
- Fryns, J-P
Publication type:
Article
Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1.
Published in:
Prenatal Diagnosis, 2002, v. 22, n. 9, p. 831, doi. 10.1002/pd.402
By:
- Witters, I.;
- Vermeesch, J. R.;
- Gyselaers, W.;
- Fryns, J. P.
Publication type:
Article
Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.
Published in:
Prenatal Diagnosis, 2002, v. 22, n. 5, p. 415, doi. 10.1002/pd.333
By:
- Van den Bosch, T.;
- Van Schoubroeck, D.;
- Fryns, J. P.;
- Naulaers, G.;
- Inion, A. M.;
- Devriendt, K.
Publication type:
Article
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
Published in:
2001
By:
- Witters, I;
- Van Bokhoven, H;
- Goossens, A;
- Van Assche, F A;
- Fryns, J P
Publication type:
journal article
Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.
Published in:
2001
By:
- Witters, Ingrid;
- Schreurs, Jan;
- Van Wing, Jacques;
- Wouters, Werner;
- Fryns, Jean-Pierre;
- Witters, I;
- Schreurs, J;
- Van Wing, J;
- Wouters, W;
- Fryns, J P
Publication type:
journal article
Letter to the editor. Mental status and psychosocial functioning in XYY males.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 3, p. 303, doi. 10.1002/(SICI)1097-0223(199803)18:3<303::AID-PD246>3.0.CO;2-Q
By:
- Fryns, J. P.
Publication type:
Article
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect.
Published in:
1998
By:
- Devriendt, Koenraad;
- Van Schoubroeck, Dominique;
- Eyskens, Benedicte;
- Gewillig, Marc;
- Vandenberghe, Kamiel;
- Fryns, Jean-Pierre;
- Devriendt, K;
- Van Schoubroeck, D;
- Eyskens, B;
- Gewillig, M;
- Vandenberghe, K;
- Fryns, J P
Publication type:
journal article
Prenatal diagnosis and long survival of Fryns syndrome.
Published in:
1995
By:
- Fryns, Jean-Pierre;
- Fryns, J P
Publication type:
Case Study
Late-onset isolated cystic hygroma. A first clinical sign of Proteus syndrome.
Published in:
1995
By:
- Fryns, Jean-Pierre;
- Fryns, J P
Publication type:
commentary
A Case of Holoprosencephaly and 13q Deletion.
Published in:
Ultrasound, 2009, v. 17, n. 4, p. 231, doi. 10.1179/174227109X12500735818142
By:
- Mesens, T;
- Witters, I;
- Meylaerts, L;
- Fryns, J P
Publication type:
Article
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.
Published in:
Human Genetics, 2003, v. 112, n. 5/6, p. 573, doi. 10.1007/s00439-003-0917-5
By:
- Peeters, H.;
- Debeer, P.;
- Bairoch, A.;
- Wilquet, V.;
- Huysmans, C.;
- Parthoens, E.;
- Fryns, J. P.;
- Gewillig, M.;
- Nakamura, Y.;
- Niikawa, N.;
- Van de Ven, W.;
- Devriendt, K.
Publication type:
Article
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001: R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, £1595.
Published in:
Human Genetics, 2002, v. 111, n. 1, p. 113, doi. 10.1007/s00439-002-0759-6
By:
- Fryns, J.-P.;
- de Ravel, T. J. L.
Publication type:
Article
Twin reversed arterial perfusion sequence presenting as intrauterine cyst.
Published in:
Ultrasound in Obstetrics & Gynecology, 2013, v. 42, n. 6, p. 724, doi. 10.1002/uog.13226
By:
- Witters, I.;
- Coumans, A.;
- Willekes, C.;
- Fryns, J. P.
Publication type:
Article
Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children.
Published in:
Journal of Intellectual Disability Research, 2005, v. 49, n. 1, p. 33, doi. 10.1111/j.1365-2788.2005.00660.x
By:
- Descheemaeker, M.‐J.;
- Ghesquière, P.;
- Symons, H.;
- Fryns, J. P.;
- Legius, E.
Publication type:
Article

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