Search Results - "VERLAAN, D. J"

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study by Richards, JB, MD, Rivadeneira, F, MD, Inouye, M, MSc, Pastinen, TM, MD, Soranzo, N, PhD, Wilson, SG, PhD, Andrew, T, PhD, Falchi, M, PhD, Gwilliam, R, PhD, Ahmadi, KR, PhD, Valdes, AM, PhD, Arp, P, BSc, Whittaker, P, BSc, Verlaan, DJ, PhD, Jhamai, M, BSc, Kumanduri, V, MSc, Moorhouse, M, PhD, van Meurs, JB, PhD, Hofman, A, Prof, Pols, HAP, Prof, Hart, D, PhD, Zhai, G, PhD, Kato, BS, PhD, Mullin, BH, BSc, Zhang, F, PhD, Deloukas, P, PhD, Uitterlinden, AG, Prof, Spector, TD, Prof

“…Summary Background Osteoporosis is diagnosed by the measurement of bone mineral density, which is a highly heritable and multifactorial trait. We aimed to…”
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Cerebral cavernous malformations: Mutations in Krit1 by VERLAAN, D. J, DAVENPORT, W. J, STEFAN, H, SURE, U, SIEGEL, A. M, ROULEAU, G. A

“…To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral…”
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CCM3 mutations are uncommon in cerebral cavernous malformations by VERLAAN, D. J, ROUSSEL, J, LAURENT, S. B, ELGER, C. E, SIEGEL, A. M, ROULEAU, G. A

“…Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Mutations in the gene…”
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A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3 by Verlaan, D J, Dubé, M-P, St-Onge, J, Noreau, A, Roussel, J, Satgé, N, Wallace, M C, Rouleau, G A

“…Background: Intracranial aneurysms (IA) are dilatations of intracranial arteries that occur most commonly at arterial bifurcations. Unruptured IA are present…”
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CCM1 mutation screen of sporadic cases with cerebral cavernous malformations by VERLAAN, D. J, LAURENT, S. B, SURE, U, BERTALANFFY, H, ANDERMANN, E, ANDERMANN, F, ROULEAU, G. A, SIEGEL, A. M

“…Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in…”
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Large germline deletions and duplication in isolated cerebral cavernous malformation patients by FELBOR, U, GAETZNER, S, VERLAAN, D. J, VIJZELAAR, R, ROULEAU, G. A, SIEGEL, A. M

“…Cerebral cavernous malformations (CCM) are vascular lesions that predispose to headaches, seizures, and hemorrhagic stroke. Hereditary CCMs are usually…”
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No CCM2 mutations in a cohort of 31 sporadic cases by VERLAAN, D. J, LAURENT, S. B, ROULEAU, G. A, SIEGEL, A. M

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Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families by Graeni, C., Stepper, F., Sturzenegger, M., Merlo, A., Verlaan, D. J., Andermann, F., Baumann, C. R., Bonassin, F., Georgiadis, D., Baumgartner, R. W., Rouleau, G. A., Siegel, A. M.

“…Cavernous malformations (CCMs) are benign, well-circumscribed, and mulberry-like vascular malformations that may be found in the central nervous system in up…”
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Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation by Dupré, Nicolas, Verlaan, Dominique J, Hand, Collette K, Laurent, Sandra B, Turecki, Gustavo, Davenport, W Jeptha, Acciarri, Nicola, Dichgans, Johannes, Ohkuma, Akio, Siegel, Adrian M, Rouleau, Guy A

“…Cerebral cavernous malformation (CCM) is a form of intracranial vascular disease that may arise sporadically or be dominantly inherited. Linkage studies have…”
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Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families by Siegel, A M, Bertalanffy, H, Dichgans, J J, Elger, C E, Hopf, H, Hopf, N, Keidel, M, Kleider, A, Nowak, G, Pfeiffer, R A, Schramm, J, Spuck, S, Stefan, H, Sure, U, Baumann, C R, Rouleau, G A, Verlaan, D J, Andermann, E, Andermann, F

“…In 1928, Hugo Friedrich Kufs reported on a family with cerebral, retinal, and cutaneous cavernous malformations. Since then, more than 300 families with…”
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The 14q restless legs syndrome locus in the French Canadian population by Levchenko, Anastasia, Montplaisir, Jacques-Yves, Dubé, Marie-Pierre, Riviere, Jean-Baptiste, St-Onge, Judith, Turecki, Gustavo, Xiong, Lan, Thibodeau, Pascale, Desautels, Alex, Verlaan, Dominique J., Rouleau, Guy A.

“…A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and…”
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Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation by Verlaan, Dominique J., Siegel, Adrian M., Rouleau, Guy A.

“…At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading…”
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A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family by Rivière, Jean-Baptiste, Verlaan, Dominique J., Shekarabi, Masoud, Lafrenière, Ronald G., Bénard, Mélanie, Der Kaloustian, Vazken M., Shbaklo, Zuhayr, Rouleau, Guy A.

“…Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder clinically characterized by distal and proximal sensory loss that…”
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CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations by Verlaan, Dominique J., Laurent, Sandra B., Rochefort, Daniel L., Liquori, Christina L., Marchuk, Douglas A., Siegel, Adrian M., Rouleau, Guy A.

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Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien by Siegel, A. M., Bertalanffy, H., Dichgans, J. J., Elger, C. E., Hopf, H., Hopf, N., Keidel, M., Kleider, A., Nowak, G., Pfeiffer, R. A., Schramm, J., Spuck, S., Stefan, H., Sure, U., Baumann, C. R., Rouleau, G. A., Verlaan, D. J., Andermann, E., Andermann, F.

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