Bart Loeys

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations (2009)

Faivre, Laurence, Masurel-Paulet, Alice, Collod-Beroud, Gwenaelle, CALLEWAERT, BERT, Child, Anne H, Stheneur, Chantal, ...

Unusual 8p inverted duplication deletion with telomere capture from 8q (2009)

Buysse, Karen, Antonacci, F, CALLEWAERT, BERT, Loeys, Bart, Fränkel, Ulrike, Siu, Victoria, ...

Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at...

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation (2009)

Faivre, Laurence, Collod-Beroud, G, Callewaert, Bert, Child, A, Binquet, C, Gautier, E, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly: Report of 14 Novel Mutations and Review of the Literature (2009)

Callewaert, Bert, Loeys, Bart, Ficcadenti, A, Vermeer, S, Landgren, M, Kroes, H, ...

Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and...

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. (2009)

Faivre, Laurence, Collod-Beroud, Gwenaëlle, Callewaert, Bert, Child, Anne, Binquet, Christine, Gautier, Elodie, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. (2009)

Faivre, Laurence, Collod-Beroud, Gwenaëlle, Callewaert, Bert, Child, Anne, Binquet, Christine, Gautier, Elodie, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion (2009)

Faivre, L, Collod-Beroud, G, Callewaert, Bert, Child, A, Loeys, Bart, Binquet, C, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet...

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. (2009)

Faivre, Laurence, Collod-Beroud, Gwenaëlle, Callewaert, Bert, Child, Anne, Binquet, Christine, Gautier, Elodie, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

The influence of aortic dimensions on calculated wall shear stress in the mouse aortic arch (2009)

Trachet, Bram, Swillens, Abigaïl, Van Loo, Denis, Casteleyn, Christophe, De Paepe, Anne, Loeys, Bart, ...

In this paper, the influence of the aortic dimensions of an investigated mouse on its resulting wall shear stress (WSS) was studied. A numerical model of a mouse aortic arch was created based on a...

Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families (2008)

CALLEWAERT, BERT, Willaert, Andy, KERSTJENS-FREDERIKSE, WS, De Backer, Julie, DEVRIENDT, K, ALBRECHT, B, ...

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands (2008)

FAIVRE, L, COLLOD-BEROUD, G, CHILD, A, CALLEWAERT, BERT, Loeys, Bart, BINQUET, C, ...

Ehlers-Danios syndromes and Marfan syndrome (2008)

CALLEWAERT, BERT, MALFAIT, FRANSISKA, Loeys, Bart, De Paepe, Anne

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions (2008)

CALLEWAERT, BERT, Loeys, Bart, CASTELEYN, C, Willaert, Andy, DEWINT, P, De Backer, Julie, ...

Novel clinico-molecular insights in Pseudoxanthoma Elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart (2008)

Vanakker, Olivier, LEROY, BART, Coucke, Paul, BERCOVITCH, L, UITTO, J, TERRY, S, ...

New insights in the pathogenesis of aortic aneurysms (2008)

Loeys, Bart, De Paepe, Anne

Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 (2008)

Seifert, Wenke, Holder-Espinasse, Muriel, Kühnisch, Jirko, Kahrizi, Kimia, Tzschach, Andreas, Garshasbi, Masoud, ...

Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been...

Identification of copy number variants associated with BPES-like phenotypes (2008)

Gijsbers, ACJ, D'Haene, Barbara, Hilhorst-Hofstee, Y, Mannens, M, Albrecht, B, Seidel, J, ...

Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure...

Wall shear stress : a key determinant in normal arterial growth? (2008)

Trachet, Bram, Swillens, Abigaïl, Van Loo, Denis, Casteleyn, Christophe, De Paepe, Anne, Loeys, Bart, ...

The influence of aortic root diameter on wall shear stress in the mouse aortic arch (2008)

Trachet, Bram, Swillens, Abigaïl, Van Loo, Denis, Casteleyn, Christophe, De Paepe, Anne, Loeys, Bart, ...

Wall shear stress in the mouse aortic arch : does size matter? (2008)

Trachet, Bram, Swillens, Abigaïl, Van Loo, Denis, Casteleyn, Christophe, De Paepe, Anne, Loeys, Bart, ...

Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 (2008)

Seifert, Wenke, Holder-Espinasse, Muriel, Kühnisch, Jirko, Kahrizi, Kimia, Tzschach, Andreas, Garshasbi, Masoud, ...

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity (2007)

Vanakker, Olivier, MARTIN, L, GHEDUZZI, D, Leroy, Bart, Loeys, Bart, GUERCI, VI, ...

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study (2007)

FAIVRE, L, COLLOD-BEROUD, G, Loeys, Bart, CHILD, A, BINQUET, C, GAUTIER, E, ...

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome (2007)

DE, BJ, Loeys, Bart, Leroy, Bart, Coucke, Paul, DIETZ, H, DE, PA

The PDAC syndrome (Pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance (2007)

CHITAYAT, D, SROKA, H, KEATING, S, COLBY, RS, RYAN, G, TOI, A, ...

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance (2007)

LOSCALZO, ML, GOH, DLM, Loeys, Bart, KENT, KC, SPEVAK, PJ, DIETZ, HC

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation (2007)

DEARDORFF, MA, KAUR, M, YAEGER, D, RAMPURIA, A, KOROLEV, S, PIE, J, ...

Loeys-Dietz syndrome: MDCT angiography findings (2007)

JOHNSON, PT, CHEN, JK, Loeys, Bart, DIETZ, HC, FISHMAN, EK

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states (vol 12, pg 204, 2007) (2007)

COHN, RD, VAN ERP, C, HABASHI, JP, SOLEIMANI, AA, KLEIN, EC, LISI, MT, ...

The Loeys-Dietz syndrome (2007)

Loeys, Bart, DIETZ, HC

Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease (2007)

WILLIAMS, JA, Loeys, Bart, NWAKANMA, LU, DIETZ, HC, SPEVAK, PJ, PATEL, ND, ...

New insights into the pathogenesis and treatment of arterial aneurysms and dissections (2007)

CALLEWAERT, BERT, De Paepe, Anne, Loeys, Bart

Een Belgische patiënt met Arterial Tortuosity Syndrome (2007)

CALLEWAERT, BERT, Loeys, Bart, De Backer, Julie, Willaert, Andy, DEVOS, D, GEWILLIG, M, ...

Arteriële tortuositeit door fout in glucosetransporter (2007)

De Paepe, Anne, Coucke, Paul, Loeys, Bart

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome (2007)

Van Lierde, Kristiane, Mortier, Geert, Loeys, Bart, Baudonck, Nele, De Ley, Sophia, Marks, Luc, ...

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa (2006)

HU, QR, Loeys, Bart, Coucke, Paul, De Paepe, Anne, MECHAM, RP, CHOI, J, ...

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome (2006)

Coucke, Paul, Willaert, Andy, WESSELS, MW, CALLEWAERT, BERT, ZOPPI, N, De Backer, Julie, ...

Aneurysm syndromes caused by mutations in the TGF-beta receptor (2006)

Loeys, Bart, SCHWARZE, U, HOLM, T, CALLEWAERT, BERT, THOMAS, GH, PANNU, H, ...

Detailed description of cardiovascular findings in Loeys-Dietz syndrome, a widespread and aggressive aortic aneurysm syndrome (2006)

De Backer, Julie, De Sutter, Johan, De Paepe, Anne, DIETZ, HC, Loeys, Bart

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome (2006)

De Backer, Julie, Loeys, Bart, DEVOS, DANIEL, DIETZ, H, De Sutter, Johan, De Paepe, Anne

The molecular genetics of Marfan syndrome and related disorders (2006)

ROBINSON, PN, ARTEAGA-SOLIS, E, BALDOCK, C, COLLOD-BEROUD, G, BOOMS, P, De Paepe, Anne, ...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 (2005)

Loeys, Bart, CHEN, JJ, NEPTUNE, ER, JUDGE, DP, PODOWSKI, M, HOLM, T, ...

Mutation analysis of the FBN1 gene in individuals with Marfan syndrome : sensitivity, methods, clinical indications (2005)

De Paepe, Anne, Loeys, Bart, Coucke, Paul

Loeys-Dietz syndrome: a new aortic aneurysm syndrome with an aggressive clinical course and widespread vascular involvement (2005)

De Backer, Julie, Loeys, Bart, Coucke, Paul, CHEN, J, DIETZ, HC, De Paepe, Anne

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) (2004)

Yardley, Jill, Leroy, Bart P., Hart-Holden, Niki, Lafaut, Bart A., Loeys, Bart, Messiaen, Ludwine M., ...

PURPOSE: To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development,...

Cutis Laxa of the autosomal recessive type in a consanguineous family (2003)

De Schepper, Sofie, Loeys, Bart, De Paepe, Anne, Lambert, Jo, Naeyaert, Jean

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). (2002)

Loeys, Bart, NUYTINCK, L, VAN ACKER, P, WALRAEDT, S, BONDUELLE, M, SERMON, K, ...

Moleculaire genetica bij de vasculaire vorm van het syndroom van Ehlers-Danlos. (2002)

Loeys, Bart, De Backer, Julie, Matthys, Dirk, De Paepe, Anne

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. (2002)

PARVARI, R, HERSHKOVITZ, E, GROSSMAN, N, GORODISCHER, R, Loeys, Bart, ZECIC, A, ...

Aangeboren afwijkingen van het spraakorgaan. (2002)

Loeys, Bart, Mortier, Geert

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence. (2002)

Loeys, Bart, Hoebeke, Piet, Raes, Ann, Messiaen, Ludwine, De Paepe, Anne, Vande Walle, Johan

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. (2002)

Loeys, Bart, VAN MALDERGEM, L, Mortier, Geert, Coucke, Paul, GERNIERS, S, Naeyaert, Jean, ...

The natural history of human dermatosparaxis (Ehlers-Danios Syndrome VII C) (2002)

Malfait, Fransiska, Loeys, Bart, De Coster, Peter, De Paepe, Anne

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIc) (2002)

MALFAIT, FRANSISKA, Loeys, Bart, De Coster, Peter, De Paepe, Anne

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa (2002)

Loeys, Bart, Van Maldergem, Lionel, Mortier, Geert, Coucke, Paul, Gerniers, Sabine, Naeyaert, Jean-Marie, ...

Hereditary cutis laxa comprises a heterogeneous group of connective tissue disorders characterized by loose skin and variable systemic involvement. Autosomal dominant and recessive as well as...

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. (2001)

Lafaut, Bart, Loeys, Bart, Leroy, Bart, SPILEERS, W, Delaey, Jean, Kestelyn, Philippe

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. (2001)

Loeys, Bart, NUYTINCK, L, Delvaux, Isabelle, De Bie, Sylvia, De Paepe, Anne

Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome. (2001)

MEGARBANE, A, RUCHOUX, MM, Loeys, Bart, AYOUB, N, NUYTINCK, L

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis. (1999)

Loeys, Bart, Van Coster, Rudy, Defreyne, Luc, Leroy, Juliaan

Occipital Horn syndrome in a 2-year-old boy. (1999)

De Paepe, Anne, Loeys, Bart, DEVRIENDT, K, FRYNS, JP

The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs. (1999)

Loeys, Bart, Lemmerling, Marc, VAN MOL, CE, Leroy, Juliaan

Bruck syndrome: neonatal presentation and natural course in three patients. (1998)

Leroy, Juliaan, NUYTINCK, L, De Paepe, Anne, DE RAMMELAERE, M, GILLEROT, Y, VERLOES, A, ...

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, ...

Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin...

Klinische Genetica. Een medische tak in volle expansie. Hoofdstuk voor het boek 'Het Medisch Jaar' (editie 1998), 1997.

Loeys, Bart, De Bie, Sylvia, De Paepe, Anne