ACNP - Italian Periodicals Catalogue

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Results: 51-75/115

In memoriam - Charles Piussan (1934-1999)

Authors: Fryns, JP

Citation: Jp. Fryns, In memoriam - Charles Piussan (1934-1999), GEN COUNSEL, 11(1), 2000, pp. 1-1

Prenatal diagnosis of central nervous system abnormalities: Diagnostic possibilities and limitations of fetal neurosonography

Authors: Witters, I Fryns, JP

Citation: I. Witters et Jp. Fryns, Prenatal diagnosis of central nervous system abnormalities: Diagnostic possibilities and limitations of fetal neurosonography, GEN COUNSEL, 11(1), 2000, pp. 3-11

Mandibulo-acral dysplasia in a one-year-old boy

Authors: Vantrappen, G Feenstra, L Macours-Verelst, C Fryns, JP

Citation: G. Vantrappen et al., Mandibulo-acral dysplasia in a one-year-old boy, GEN COUNSEL, 11(1), 2000, pp. 49-52

On the nosology of van der Woude syndrome and Popliteal Pterygium syndrome: Implications for genetic counseling

Authors: Fryns, JP Devriendt, K

Citation: Jp. Fryns et K. Devriendt, On the nosology of van der Woude syndrome and Popliteal Pterygium syndrome: Implications for genetic counseling, GEN COUNSEL, 11(1), 2000, pp. 59-60

Cystic hygroma colli in triplo-X syndrome

Authors: Witters, I Moerman, P Jankelevitch, E Van Assche, A Fryns, JP

Citation: I. Witters et al., Cystic hygroma colli in triplo-X syndrome, GEN COUNSEL, 11(1), 2000, pp. 61-62

Early development (5 to 48 months) in Williams syndrome. A study of 14 children (vol 10, pg 151, 1999)

Authors: Plissart, L Fryns, JP

Citation: L. Plissart et Jp. Fryns, Early development (5 to 48 months) in Williams syndrome. A study of 14 children (vol 10, pg 151, 1999), GEN COUNSEL, 11(1), 2000, pp. 83-83

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

Authors: Veugelers, M De Cat, B Muyldermans, SY Reekmans, G Delande, N Frints, S Legius, E Fryns, JP Schrander-Stumpel, C Weidle, B Magdalena, N David, G

Citation: M. Veugelers et al., Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene, HUM MOL GEN, 9(9), 2000, pp. 1321-1328

A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism

Authors: Frints, SGM De Smet, L Fabry, G Fryns, JP

Citation: Sgm. Frints et al., A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism, CLIN DYSMOR, 9(4), 2000, pp. 273-276

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism

Authors: Devriendt, K Keymolen, K Roelen, L Van Goethem, G Meireleire, J Fryns, JP

Citation: K. Devriendt et al., Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism, CLIN DYSMOR, 9(2), 2000, pp. 111-114

Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7

Authors: Potgieter, S Matthijs, G De Cock, P Fryns, JP

Citation: S. Potgieter et al., Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7, EUR J PED, 159(12), 2000, pp. 929-929

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations

Authors: Nothwang, HG Schroer, A van der Maarel, S Kubart, S Schneider, S Riesselmann, L Menzel, C Hinzmann, B Vogt, D Rosenthal, A Fryns, JP Tommerup, N Haaf, T Ropers, HH Wirth, J

Citation: Hg. Nothwang et al., Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations, CYTOG C GEN, 90(1-2), 2000, pp. 126-133

Diaphragmatic hernia as the first echographic sign in Apert syndrome

Authors: Witters, I Devriendt, K Moerman, P van Hole, C Fryns, JP

Citation: I. Witters et al., Diaphragmatic hernia as the first echographic sign in Apert syndrome, PRENAT DIAG, 20(5), 2000, pp. 404-406

Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

Authors: Swillen, A Vogels, A Devriendt, K Fryns, JP

Citation: A. Swillen et al., Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications, AM J MED G, 97(2), 2000, pp. 128-135

Behavioral phenotype in childhood type of dystrophia myotonica

Authors: Steyaert, J de Die-Smulders, C Fryns, JP Goossens, E Willekens, D Fryns, JP

Citation: J. Steyaert et al., Behavioral phenotype in childhood type of dystrophia myotonica, AM J MED G, 96(6), 2000, pp. 888-889

Cosegregation of T108A Elk-1 with mental retardation

Authors: Schroer, A Scheer, MP Zacharias, S Schneider, S Ropers, HH Nothwang, HG Chelly, J Hamel, B Fryns, JP Shaw, P Moraine, C

Citation: A. Schroer et al., Cosegregation of T108A Elk-1 with mental retardation, AM J MED G, 95(4), 2000, pp. 404-405

Partial trisomy 4p and Brachmann-de Lange syndrome

Authors: Fryns, JP

Citation: Jp. Fryns, Partial trisomy 4p and Brachmann-de Lange syndrome, AM J MED G, 95(4), 2000, pp. 406-406

9th international workshop on fragile X syndrome and X-linked mental retardation

Authors: Fryns, JP Borghgraef, M Brown, TW Chelly, J Fisch, GS Hamel, B Hanauer, A Lacombe, D Luo, L MacPherson, JN Mandel, JL Moraine, C Mulley, J Nelson, D Oostra, B Partington, M Ramakers, GJA Ropers, HH Rousseau, F Schwartz, C Steinbach, P Stoll, C Tranebjaerg, L Turner, G Van Bokhoven, H Vianna-Morgante, A Villard, L Warren, ST

Citation: Jp. Fryns et al., 9th international workshop on fragile X syndrome and X-linked mental retardation, AM J MED G, 94(5), 2000, pp. 345-360

Novel syndromic form of X-linked complicated spastic paraplegia

Authors: Claes, S Devriendt, K Van Goethem, G Roelen, L Meireleire, J Raeymaekers, P Cassiman, JJ Fryns, JP

Citation: S. Claes et al., Novel syndromic form of X-linked complicated spastic paraplegia, AM J MED G, 94(1), 2000, pp. 1-4

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

Authors: Bienvenu, T des Portes, V McDonell, N Carrie, A Zemni, R Couvert, P Ropers, HH Moraine, C van Bokhoven, H Fryns, JP Allen, K Walsh, CA Boue, J Kahn, A Chelly, J Beldjord, C

Citation: T. Bienvenu et al., Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation, AM J MED G, 93(4), 2000, pp. 294-298

Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity

Authors: Keymolen, K Van Damme-Lombaerts, R Verloes, A Fryns, JP

Citation: K. Keymolen et al., Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity, AM J MED G, 93(1), 2000, pp. 19-21

Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: Unusual chromosome 9 variant

Authors: Lukusa, T Devriendt, K Holvoet, M Fryns, JP

Citation: T. Lukusa et al., Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: Unusual chromosome 9 variant, AM J MED G, 91(3), 2000, pp. 192-197

Neuroblastoma in a mother and congenital central hypoventilation in her daughter: Variable expression of the same genetic disorder?

Authors: Devriendt, K Fryns, JP Naulaers, G Devlieger, H Alliet, P

Citation: K. Devriendt et al., Neuroblastoma in a mother and congenital central hypoventilation in her daughter: Variable expression of the same genetic disorder?, AM J MED G, 90(5), 2000, pp. 430-431

Cri du chat syndrome: Changing phenotype in older patients

Authors: Van Buggenhout, GJCM Pijkels, E Holvoet, M Schaap, C Hamel, BCJ Fryns, JP

Citation: Gjcm. Van Buggenhout et al., Cri du chat syndrome: Changing phenotype in older patients, AM J MED G, 90(3), 2000, pp. 203-215

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

Authors: Knopf, C Rod, R Jaeken, J Berant, M Van Schaftingen, E Fryns, JP Brill-Zamir, R Gershoni-Baruch, R Lischinsky, S Mandel, H

Citation: C. Knopf et al., Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism, J INH MET D, 23(4), 2000, pp. 399-403

Phenotypic checklist to screen for fragile X syndrome in people with mental retardation

Authors: Maes, B Fryns, JP Ghesquiere, P Borghgraef, M

Citation: B. Maes et al., Phenotypic checklist to screen for fragile X syndrome in people with mental retardation, MENTAL RETA, 38(3), 2000, pp. 207-215

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