ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-50 |

Results: 26-50/50

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

The V2O5/TiO2 (anatase) model catalyst structure: XPD study and single scattering cluster simulations

Authors: Devriendt, K Poelman, H Fiermans, L

Citation: K. Devriendt et al., The V2O5/TiO2 (anatase) model catalyst structure: XPD study and single scattering cluster simulations, SURF INT AN, 29(2), 2000, pp. 139-144

GATA3 haplo-insufficiency causes human HDR syndrome

Authors: Van Esch, H Groenen, P Nesbit, MA Schuffenhauer, S Lichtner, P Vanderlinden, G Harding, B Beetz, R Bilous, RW Holdaway, I Shaw, NJ Fryns, JP Van de Ven, WV Thakker, RV Devriendt, K

Citation: H. Van Esch et al., GATA3 haplo-insufficiency causes human HDR syndrome, NATURE, 406(6794), 2000, pp. 419-422

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

Authors: Iwatani, N Mabe, H Devriendt, K Kodama, M Miike, T

Citation: N. Iwatani et al., Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure, J PEDIAT, 137(2), 2000, pp. 272-276

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal6q/9p translocation

Authors: Devriendt, K Holvoet, M De Muelenaere, A Fryns, JP

Citation: K. Devriendt et al., The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal6q/9p translocation, CLIN GENET, 57(1), 2000, pp. 83-85

Cryptic translocation t(5;18) in familial mental retardation

Authors: Vogels, A Devriendt, K Vermeesch, JR Van Dael, R Marynen, P Dewaele, P Hageman, J Holvoet, M Fryns, JP

Citation: A. Vogels et al., Cryptic translocation t(5;18) in familial mental retardation, ANN GENET, 43(3-4), 2000, pp. 117-123

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

Authors: Irrthum, A Karkkainen, MJ Devriendt, K Alitalo, K Vikkula, M

Citation: A. Irrthum et al., Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase, AM J HU GEN, 67(2), 2000, pp. 295-301

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1

Authors: Feather, SA Malcolm, S Woolf, AS Wright, V Blaydon, D Reid, CJD Flinter, FA Proesmans, W Devriendt, K Carter, J Warwicker, P Goodship, THJ Goodship, JA

Citation: Sa. Feather et al., Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1, AM J HU GEN, 66(4), 2000, pp. 1420-1425

Occipital Horn syndrome in a 2-year-old boy

Authors: De Paepe, A Loeys, B Devriendt, K Fryns, JP

Citation: A. De Paepe et al., Occipital Horn syndrome in a 2-year-old boy, CLIN DYSMOR, 8(3), 1999, pp. 179-183

Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation

Authors: Lukusa, T Devriendt, K Jaeken, J Fryns, JP

Citation: T. Lukusa et al., Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation, CLIN DYSMOR, 8(1), 1999, pp. 47-51

Prenatal diagnosis of partial trisomy 3p(3p23 -> pter) and monosomy 7q(7q36 -> qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia

Authors: Chen, CP Devriendt, K Lee, CC Chen, WL Wang, W Wang, TY

Citation: Cp. Chen et al., Prenatal diagnosis of partial trisomy 3p(3p23 -> pter) and monosomy 7q(7q36 -> qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia, PRENAT DIAG, 19(10), 1999, pp. 986-989

Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care

Authors: Van Buggenhout, GJCM Trommelen, JCM Schoenmaker, A De Bal, C Verbeek, JJMC Smeets, DFCM Ropers, HH Devriendt, K Hamel, BCJ

Citation: Gjcm. Van Buggenhout et al., Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care, AM J MED G, 85(4), 1999, pp. 376-384

Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1

Authors: Claes, S Volcke, P Devriendt, K Holvoet, M Raeymaekers, P Cassiman, JJ Fryns, JP

Citation: S. Claes et al., Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1, AM J MED G, 85(3), 1999, pp. 283-287

Follow-up of an adult with Keutel syndrome

Authors: Devriendt, K Holvoet, M Fryns, JP

Citation: K. Devriendt et al., Follow-up of an adult with Keutel syndrome, AM J MED G, 85(1), 1999, pp. 82-83

Letter to the Editor - Heterogeneity in omphalocoele with absent radial ray complex

Authors: Devriendt, K Fryns, JP Moerman, P Vanhole, C Devlieger, H

Citation: K. Devriendt et al., Letter to the Editor - Heterogeneity in omphalocoele with absent radial ray complex, AM J MED G, 82(1), 1999, pp. 95-96

Thermal reduction of vanadium pentoxide: an XPD study

Authors: Devriendt, K Poelman, H Fiermans, L

Citation: K. Devriendt et al., Thermal reduction of vanadium pentoxide: an XPD study, SURF SCI, 435, 1999, pp. 734-739

Triplication of distal chromosome 10q

Authors: Devriendt, K Matthijs, G Holvoet, M Schoenmakers, E Fryns, JP

Citation: K. Devriendt et al., Triplication of distal chromosome 10q, J MED GENET, 36(3), 1999, pp. 242-245

Partial DiGeorge syndrome in two patients with a 10p rearrangement

Authors: Van Esch, H Groenen, P Daw, S Poffyn, A Holvoet, M Scambler, P Fryns, JP Van de Ven, W Devriendt, K

Citation: H. Van Esch et al., Partial DiGeorge syndrome in two patients with a 10p rearrangement, CLIN GENET, 55(4), 1999, pp. 269-276

A 3p deletion syndrome in a child with both del(3)(p25 -> pter) and dup(17)(q23 -> qter)

Authors: Lukusa, T Devriendt, K Fryns, JP

Citation: T. Lukusa et al., A 3p deletion syndrome in a child with both del(3)(p25 -> pter) and dup(17)(q23 -> qter), ANN GENET, 42(2), 1999, pp. 91-94

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli

Authors: Devriendt, K Jaeken, J Matthijs, G Van Esch, H Debeer, P Gewillig, M Fryns, JP

Citation: K. Devriendt et al., Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli, AM J HU GEN, 65(1), 1999, pp. 249-251

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1

Authors: Devriendt, K Matthijs, G Van Dael, R Gewillig, M Eyskens, B Hjalgrim, H Dolmer, B McGaughran, J Brondum-Nielsen, K Marynen, P Fryns, JP Vermeesch, JR

Citation: K. Devriendt et al., Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1, AM J HU GEN, 64(4), 1999, pp. 1119-1126

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

Authors: Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, MH ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, K Proesmans, W Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W Seemanova, E Engel, W

Citation: J. Kohlhase et al., Molecular analysis of SALL1 mutations in Townes-Brocks syndrome, AM J HU GEN, 64(2), 1999, pp. 435-445

Familial deletions of chromosome 22q11: The Leuven experience

Authors: Swillen, A Devriendt, K Vantrappen, G Vogels, A Rommel, N Fryns, JP Eyskens, B Gewillig, M Dumoulin, M

Citation: A. Swillen et al., Familial deletions of chromosome 22q11: The Leuven experience, AM J MED G, 80(5), 1998, pp. 531-532

Zygodactyly as the most striking physical anomaly in an adult male patientwith pure partial trisomy 1q.

Authors: Lukusa, T Van Buggenhout, G Devriendt, K Meireleire, J Van Goethem, G Roelen, L Fryns, JP

Citation: T. Lukusa et al., Zygodactyly as the most striking physical anomaly in an adult male patientwith pure partial trisomy 1q., ANN GENET, 41(4), 1998, pp. 199-204

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