Search Results - "KHAU VAN KIEN, P"

Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain by Lalande, A., Khau Van Kien, P., Walker, P.M., Zhu, L., Legrand, L., Claustres, M., Jeunemaître, X., Brunotte, F., Wolf, J.E.

“…Purpose To evaluate aortic elasticity with MRI on young asymptomatic individuals with mutation of the smooth muscle myosin heavy chain in whom aortic…”
Get full text

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation by Guissart, C, Dubucs, C, Raynal, C, Girardet, A, Tran Mau Them, F, Debant, V, Rouzier, C, Boureau-Wirth, A, Haquet, E, Puechberty, J, Bieth, E, Dupin Deguine, D, Khau Van Kien, P, Brechard, M.P, Pritchard, V, Koenig, M, Claustres, M, Vincent, M.C

“…Abstract Background Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular,…”
Get full text

Extreme oral manifestations in a Marfan-type syndrome by Khonsari, R.H, Corre, P, Boukerma-Vernex, Z, Schmidt, J, Renaudin, K, Frayssé, C, Gayet-Delacroix, M, Khau Van Kien, P, David, A

“…Abstract A 12-year-old girl with an otherwise typical Marfan syndrome (Ghent criteria fulfilled) presented with highly unusual oral manifestations consisting…”
Get full text

P07.02: Assessment of fetal thymus in 22q11.2 deletion syndrome (22q11DS) by Lamouroux, A., Mousty, E., Grosjean, F., Prodhomme, O., Khau Van Kien, P., Faure, J.M., Sarda, P., Letouzey, V., Fuchs, F.

Get full text

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation by FAIVRE, L, COLLOD-BEROUD, G, STHENEUR, C, KIOTSEKOGLOU, A, COMEGLIO, P, MARZILIANO, N, WOLF, J. E, BOUCHOT, O, KHAU-VAN-KIEN, P, BEROUD, C, CLAUSTRES, M, BONITHON-KOPP, C, CALLEWAERT, B, ROBINSON, P. N, ADES, L, DE BACKER, J, COUCKE, P, FRANCKE, U, DE PAEPE, A, JONDEAU, G, BOILEAU, C, CHILD, A, BINQUET, C, GAUTIER, E, LOEYS, B. L, ARBUSTINI, E, MAYER, K, ARSLAN-KIRCHNER, M

“…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…”
Get full text

Contribution of chromosomal microarray analysis by a multidisciplinary prenatal diagnosis center by Bartholmot, C, Mousty, E, Grosjean, F, Petrov, Y, Khau Van Kien, P, Chiesa, J, Letouzey, V

“…Chromosomal analysis by array CGH is a cytogenetic technique that has opened its application to prenatal diagnosis in recent years. The main objective of the…”
Get full text

O.043 Polyodontia in a Marfan-type syndrome by Khonsari, R, Corre, P, Renaudin, C, Gayet-Delacroix, M, Khau Van Kien, P, David, A

Get full text

G.P.9.10 Clinical development of the French UMD–DMD database by Humbertclaude, V, Tuffery-Giraud, S, Ben Yaou, R, Hamroun, D, Khau Van Kien, P, Leturcq, F, Chelly, J, Claustres, M, Béroud, C

Get full text

Genetic mutation databases: stakes and perspectives for orphan genetic diseases by Humbertclaude, V, Tuffery-Giraud, S, Bareil, C, Thèze, C, Paulet, D, Desmet, F-O, Hamroun, D, Baux, D, Girardet, A, Collod-Béroud, G, Khau Van Kien, P, Roux, A-F, des Georges, M, Béroud, C, Claustres, M

“…New technologies, which constantly become available for mutation detection and gene analysis, have contributed to an exponential rate of discovery of disease…”
Get full text

Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome by Faivre, L., Nivelon-Chevallier, A., Kottler, M.L., Robinet, C., Van Kien, P. Khau, Lorcerie, B., Munnich, A., Maroteaux, P., Cormier-Daire, V., LeMerrer, M.

“…Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of…”
Get full text

Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications by Dubruc, E, Dupuis-Girod, S, Khau Van Kien, P, Denis-Belicard, E, Chirossel, C, Fokstuen, S, Touraine, R, Plauchu, H

“…Elhers-Danlos vascular syndrome type IV (EDS4) is a hereditary pathology of the connective tissue responsible for an increased risk of lethal arterial, uterine…”
Get more information

Clinical and genetic data of 20 new patients with SMAD3 mutations, type 3 Loeys Dietz Syndrome (LDS), and reviews of the literature by Dulac, Y., Chesneau, B., Vincent, R., Edouard, T., Khau Van Kien, P., Guitarte, A., Karsenty, C., Plaisancié, J.

Get full text

Clinical and genetic data of 20 new patients with SMAD3 mutations type 3 Loeys Dietz syndrome (LDS) and reviews of the literature by Dulac, Y., Chesneau, B., Vincent, R., Edouard, T., Guitarte, A., Karsenty, C., Khau Van Kien, P., Plaisancié, J.

Get full text

Apport de l’analyse chromosomique par puce à ADN dans un centre de diagnostic prénatal pluridisciplinaire by Bartholmot, C., Mousty, E., Grosjean, F., Petrov, Y., Khau van Kien, P., Chiesa, J., Letouzey, V.

“…OBJECTIVE:Chromosomal analysis by array CGH is a cytogenetic technique that has opened its application to prenatal diagnosis in recent years. The main…”
Get full text

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability by Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L

“…The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic…”
Get full text

Grossesse et syndrome d’Ehlers-Danlos vasculaire : prise en charge et complications by Dubruc, E., Dupuis-Girod, S., Khau Van Kien, P., Denis-Belicard, E., Chirossel, C., Fokstuen, S., Touraine, R., Plauchu, H.

“…Le syndrome d’Ehlers-Danlos de type IV vasculaire (SED4) est une pathologie héréditaire du tissu conjonctif responsable d’un risque augmenté pendant et après…”
Get full text

Bardet-Biedl syndrome - antenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes by Mary, L, Chennen, K, Stoetzel, C, Antin, M, Leuvrey, A S, Nourisson, E, Alanio-Detton, E, Antal, M C, Attie-Bitach, T, Bouvagnet, P, Bouvier, R, Buenerd, A, Clémenson, A, Devisme, L, Gasser, B, Gilbert-Dussardier, B, Guimiot, F, Khau Van Kien, P, Leroy, B, Loget, P, Martinovic, J, Pelluard, F, Perez, M J, Petit, F, Pinson, L, Rooryck, C, Poch, O, Dollfus, H, Schaefer, E, Muller, J

“…Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism…”
Get full text

Apport de l’analyse chromosomique par puce à ADN dans un centre de diagnostic prénatal pluridisciplinaire by Bartholmot, C., Mousty, E., Grosjean, F., Petrov, Y., Khau Van Kien, P., Chiesa, J., Letouzey, V.

Get full text

Mapping of familial thoracic aortic aneurysm dissection with patent ductus arteriosus to 16p12-p13 by Khau van Kien, P., Mathieu, Fabrice, Zhu, L., Lalande, Alain, Betard, C., Lathrop, M., Brunotte, F., Wolf, Je, Jeunemaitre, X.

Get full text

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines by Humbertclaude, M, Tuffery-Giraud, Sylvie, Bareil, C., Thèze, C., Paulet, P, Desmet, D, Hamroun, D., Baux, David, Girardet, G, Collod-Béroud, Gwenaëlle, Khau van Kien, P., Roux, A.-F., Des Georges, M., Béroud, Christophe, Claustres, M.

“…New technologies, which constantly become available for mutation detection and gene analysis, have contributed to an exponential rate of discovery of disease…”
Get full text