Search Results - "DELLE CHIAIE, Barbara"

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation by Krawitz, Peter M., Murakami, Yoshiko, Hecht, Jochen, Krüger, Ulrike, Holder, Susan E., Mortier, Geert R., Delle Chiaie, Barbara, De Baere, Elfride, Thompson, Miles D., Roscioli, Tony, Kielbasa, Szymon, Kinoshita, Taroh, Mundlos, Stefan, Robinson, Peter N., Horn, Denise

“…Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism,…”
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Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience by Buysse, Karen, Delle Chiaie, Barbara, Van Coster, Rudy, Loeys, Bart, De Paepe, Anne, Mortier, Geert, Speleman, Frank, Menten, Björn

“…Abstract Molecular karyotyping has moved from bench to bedside for the genetic screening of patients with mental retardation and/or congenital anomalies. The…”
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors by Brady, Paul Daniel, Delle Chiaie, Barbara, Christenhusz, Gabrielle, Dierickx, Kris, Van Den Bogaert, Kris, Menten, Bjorn, Janssens, Sandra, Defoort, Paul, Roets, Ellen, Sleurs, Elke, Keymolen, Kathelijn, De Catte, Luc, Deprest, Jan, de Ravel, Thomy, Van Esch, Hilde, Fryns, Jean Pierre, Devriendt, Koenraad, Vermeesch, Joris Robert

“…Purpose: To evaluate the clinical utility of chromosomal microarrays for prenatal diagnosis by a prospective study of fetuses with abnormalities detected on…”
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Redefining the MED13L syndrome by Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, Dheedene, Annelies, Bockaert, Nele, Roelens, Filip, Decaestecker, Karin, Silva, João, Soares, Gabriela, Lopes, Fátima, Najmabadi, Hossein, Kahrizi, Kimia, Cox, Gerald F, Angus, Steven P, Staropoli, John F, Fischer, Ute, Suckow, Vanessa, Bartsch, Oliver, Chess, Andrew, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M, Kalscheuer, Vera M

“…Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the…”
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations by VERGULT, Sarah, DAUBER, Andrew, MOHAMMED, Shehla, OGILVIE, Caroline, CROLLA, John, MORTIER, Geert, MENTEN, Bjorn, DELLE CHIAIE, Barbara, VAN OUDENHOVE, Elke, SIMON, Marleen, RIHANI, Ali, LOEYS, Bart, HIRSCHHORN, Joel, PFOTENHAUER, Jean, PHILLIPS, John A

“…Although microdeletions of the long arm of chromosome 17 are being reported with increasing frequency, deletions of chromosome band 17q24.2 are rare. Here we…”
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Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples by Menten, Björn, Swerts, Katrien, Delle Chiaie, Barbara, Janssens, Sandra, Buysse, Karen, Philippé, Jan, Speleman, Frank

“…It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in…”
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Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1 by Mitter, Diana, Chiaie, Barbara Delle, Lüdecke, Hermann-Josef, Gillessen-Kaesbach, Gabriele, Bohring, Axel, Kohlhase, Jürgen, Caliebe, Almuth, Siebert, Reiner, Roepke, Albrecht, Ramos-Arroyo, Maria A., Nieva, Beatriz, Menten, Björn, Loeys, Bart, Mortier, Geert, Wieczorek, Dagmar

“…Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions…”
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Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development by Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine

“…One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up…”
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome by Van der Aa, Nathalie, Rooms, Liesbeth, Vandeweyer, Geert, van den Ende, Jenneke, Reyniers, Edwin, Fichera, Marco, Romano, Corrado, Delle Chiaie, Barbara, Mortier, Geert, Menten, Björn, Destrée, Anne, Maystadt, Isabelle, Männik, Katrin, Kurg, Ants, Reimand, Tiia, McMullan, Dom, Oley, Christine, Brueton, Louise, Bongers, Ernie M.H.F, van Bon, Bregje W.M, Pfund, Rolph, Jacquemont, Sebastien, Ferrarini, Alessandra, Martinet, Danielle, Schrander-Stumpel, Connie, Stegmann, Alexander P.A, Frints, Suzanna G.M, de Vries, Bert B.A, Ceulemans, Berten, Kooy, R. Frank

“…Abstract Interstitial deletions of 7q11.23 cause Williams–Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype…”
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome: Emerging Microdeletion and Microduplication Syndromes by VAN DER AA, Nathalie, ROOMS, Liesbeth, DESTREE, Anne, MAYSTADT, Isabelle, MÄNNIK, Katrin, KURG, Ants, REIMAND, Tiia, MCMULLAN, Dom, OLEY, Christine, BRUETON, Louise, BONGERS, Ernie M. H. F, VAN BON, Bregje W. M, VANDEWEYER, Geert, PFUND, Rolph, JACQUEMONT, Sebastien, FERRARINI, Alessandra, MARTINET, Danielle, SCHRANDER-STUMPEL, Connie, STEGMANN, Alexander P. A, FRINTS, Suzanna G. M, DE VRIES, Bert B. A, CEULEMANS, Berten, KOOY, R. Frank, VAN DEN ENDE, Jenneke, REYNIERS, Edwin, FICHERA, Marco, ROMANO, Corrado, DELLE CHIAIE, Barbara, MORTIER, Geert, MENTEN, Björn

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