Search Results - "Sznajer, Y."

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency by van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S

“…Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been…”
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A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy by Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

“…•Dolichol-P-mannose (DPM) synthase is essential for alpha-dystroglycan O-glycosylation.•DPM synthase is composed of 3 subunits (DPM1, DPM2, and DPM3).•DPM…”
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Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion by Calado, Joaquim, Sznajer, Yves, Metzger, Daniel, Rita, Ana, Hogan, Marie C., Kattamis, Antonis, Scharf, Mauro, Tasic, Velibor, Greil, Johann, Brinkert, Florian, Kemper, Markus J., Santer, René

“…Introduction. Familial renal glucosuria (FRG) is a rare renal tubular disorder caused by mutations within the SLC5A2 gene. It is characterized by persistent…”
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Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy” [Neuromuscular disorders 27/11 (2017) 1043–1046] by Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

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PP03.10 – 2967: Niemann-Pick C disease: Diagnostic challenge by Gobert, C, Sznajer, Y, Clapuyt, P, Latour, P, Nassogne, M

“…Introduction Niemann-Pick C Disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the…”
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OC06.04: The Belgian approach to meet the challenge in interpreting prenatal microarray results by Muys, J., Blaumeiser, B., Janssens, K., Bandelier, C., Gatot, J., Van Den Bogaert, A., Vermeesch, J., Rombout, S., Menten, B., Pichon, B., Keymolen, K., Van Den Bogaert, K., Janssens, S., Caberg, J., Désir, J., Sznajer, Y., Destree, A., Jacquemyn, Y.

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A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy by Van den Bergh, P, Sznajer, Y, Van Parijs, V, van Tol, W, Wevers, R, Lefeber, D, Xu, L, Lek, M, MacArthur, D, Johnson, K, Phillips, L, Topf, A, Straub, V

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Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability by Giehl, Kathrin A, Herzinger, Thomas, Wolff, Hans, Sárdy, Miklós, von Braunmühl, Tanja, Dekeuleneer, Valérie, Sznajer, Yves, Tennstedt, Dominique, Boes, Pascaline, Rapprich, Stefan, Wagner, Nicola, Betz, Regina C, Braun-Falco, Markus, Strom, Tim, Ruzicka, Thomas, Eckstein, Gertrud N

“…Punctate palmoplantar keratoderma (PPKP1; Buschke-Fischer-Brauer) is a rare autosomal dominant inherited skin disease characterized by multiple hyperkeratotic…”
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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes by Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C.

“…Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller‐Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations…”
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Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q₁₀ deficiency by Aeby, A, Sznajer, Y, Cavé, H, Rebuffat, E, Van Coster, R, Rigal, O, Van Bogaert, P

“…The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal…”
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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…”
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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability by Delahaye, A, Sznajer, Y, Lyonnet, S, Elmaleh-Bergès, M, Delpierre, I, Audollent, S, Wiener-Vacher, S, Mansbach, A-L, Amiel, J, Baumann, C, Bremond-Gignac, D, Attié-Bitach, T, Verloes, A, Sanlaville, D

“…CHARGE syndrome (OMIM #214800) is a multiple malformation syndrome with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA…”
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Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype by Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P.

“…We describe a 27-month-old girl with COG6 deficiency. She is the first child of healthy consanguineous Moroccan parents. She presented at birth with dysmorphic…”
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PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience by Keren, B, Hadchouel, A, Saba, S, Sznajer, Y, Bonneau, D, Leheup, B, Boute, O, Gaillard, D, Lacombe, D, Layet, V, Marlin, S, Mortier, G, Toutain, A, Beylot, C, Baumann, C, Verloes, A, Cavé, H

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Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy by Sibille, C.-A., Triffaux, M., Claes, K., Sznajer, Y., Gille, M.

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150 CIRCADIAN ANOMALIES IN WILLIAMS SYNDROME by Groswasser, J, Meulemans, A, Sekhara, T, Sznajer, Y, Scaillet, S

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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign by Desmyter, L, Ghassibe, M, Revencu, N, Boute, O, Lees, M, Francois, G, Verellen-Dumoulin, C, Sznajer, Y, Moncla, A, Benateau, H, Claes, K, Devriendt, K, Mathieu, M, Van Maldergem, Lionel, Addor, M. C, Drouin-Garraud, V, Mortier, G, Bouma, M, Dieux-Coeslier, A, Genevieve, D, Goldenberg, A, Gozu, A, Makrythanasis, P, McEntagart, U, Sanchez, A, Vilain, C, Vermeer, S, Connell, F, Verheij, J, Manouvrier, S, Pierquin, Geneviève, Odent, S, Holder-Espinasse, M, Vincent-Delorme, C, Gillerot, Y, Vanwijck, R, Bayet, B, Vikkula, M

“…Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the…”
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852 Olmsted syndrome due to PERP mutations shows activation of the EGFR pathway and is improved by oral erlotinib by Basset, J., Marchal, L., Dekeuleneer, V., Van Damme, A., Sznajer, Y., Mallet, S., Grob, J., Hovnanian, A.

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The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random by Maas, N M C, Van Vooren, S, Hannes, F, Van Buggenhout, G, Mysliwiec, M, Moreau, Y, Fagan, K, Midro, A, Engiz, O, Balci, S, Parker, M J, Sznajer, Y, Devriendt, K, Fryns, J P, Vermeesch, J R

“…The t(4;8)(p16;p23) is the second most common constitutional chromosomal translocation and is caused by an ectopic meiotic recombination between the olfactory…”
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases by Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T

“…Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in…”
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