Dysmorphology at a distance: results of a web-based diagnostic service von Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K

Volltext

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts von Molinari, F, Kaminska, A, Fiermonte, G, Boddaert, N, Raas‐Rothschild, A, Plouin, P, Palmieri, L, Brunelle, F, Palmieri, F, Dulac, O, Munnich, A, Colleaux, L

Volltext

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy von Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas‐Rothschild, A.

Volltext

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews von Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T., Raas-Rothschild, A., Ben-Zeev, B., Basel-Salmon, L., Behar, D.M., Heimer, G.

Volltext

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations von Ghalamkarpour, A, Morlot, S, Raas-Rothschild, A, Utkus, A, Mulliken, JB, Boon, LM, Vikkula, M

Volltext

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity von Coutinho, MF, Encarnação, M, Gomes, R, da Silva Santos, L, Martins, S, Sirois-Gagnon, D, Bargal, R, Filocamo, M, Raas-Rothschild, A, Tappino, B, Laprise, C, Cury, GK, Schwartz, IV, Artigalás, O, Prata, MJ, Alves, S

Volltext

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing... von Maydan, G., Andresen, B. S., Madsen, P. P., Zeigler, M., Raas‐Rothschild, A., Zlotogorski, A., Gutman, A., Korman, S. H.

Volltext

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... von Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

Volltext

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15 von Morlé, L., Bozon, M., Zech, J.-C., Alloisio, N., Raas-Rothschild, A., Philippe, C., Lambert, J.-C., Godet, J., Plauchu, H., Edery, P.

Volltext

Prenatal ultrasonographic diagnosis of atypical Nonne–Milroy lymphedema von Lev‐Sagie, A., Hamani, Y., Raas‐Rothschild, A., Yagel, S., Anteby, E. Y.

Volltext

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization von Kämpe, Anders J, Costantini, Alice, Levy‐shraga, Yael, Zeitlin, Leonid, Roschger, Paul, Taylan, Fulya, Lindstrand, Anna, Paschalis, Eleftherios P, Gamsjaeger, Sonja, Raas‐Rothschild, Annick, Hövel, Matthias, Jiao, Hong, Klaushofer, Klaus, Grasemann, Corinna, Mäkitie, Outi

Volltext

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III von Raas-Rothschild, A, Bargal, R, Goldman, O, Ben-Asher, E, Groener, J E M, Toutain, A, Stemmer, E, Ben-Neriah, Z, Flusser, H, Beemer, F A, Penttinen, M, Olender, T, Rein, A J J T, Bach, G, Zeigler, M

Volltext

Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis von Falik-Zaccai, T. C., Zeigler, M., Bargal, R., Bach, G., Borochowitz, Z., Raas-Rothschild, A.

Volltext

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase von Braulke, Thomas, Tiede, Stephan, Storch, Stephan, Lübke, Torben, Henrissat, Bernard, Bargal, Ruth, Raas-Rothschild, Annick

Volltext

Identification of the gene causing mucolipidosis type IV von Bach, Gideon, Bargal, Ruth, Avidan, Nili, Ben-Asher, Edna, Olender, Zvia, Zeigler, Marcia, Frumkin, Ayala, Raas-Rothschild, Annick, Glusman, Gustavo, Lancet, Doron

Volltext

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy von Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence

Volltext

Rhabdomyoma in the fetus: illustration of tumor growth during the second half of gestation von Nir, A, Ekstein, S, Nadjari, M, Raas-Rothschild, A, Rein, A J

Volltext

Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome von Dagoneau, Nathalie, Scheffer, Deborah, Huber, Céline, Al-Gazali, Lihadh I., Di Rocco, Maja, Godard, Anne, Martinovic, Jelena, Raas-Rothschild, Annick, Sigaudy, Sabine, Unger, Sheila, Nicole, Sophie, Fontaine, Bertrand, Taupin, Jean-Luc, Moreau, Jean-François, Superti-Furga, Andrea, Le Merrer, Martine, Bonaventure, Jacky, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie

Volltext

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children von FRISHBERG, Yaacov, RINAT, Choni, MEGGED, Orli, SHAPIRA, Eli, FEINSTEIN, Sofia, RAAS-ROTHSCHILD, Annick

Volltext

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 von Mykytyn, Kirk, Gorman, Susan W, Carmi, Rivka, Stone, Edwin M, Wright, Alan F, Searby, Charles C, Duhl, David M, Casavant, Thomas, Beck, Gretel, Jacobson, Samuel G, Braun, Terry, Haider, Neena B, Raas-Rothschild, Annick, Riise, Ruth, Sheffield, Val C, Iannaccone, Alessandro, Shastri, Mythreyi, Elbedour, Khalil, Baldi, Alfonso

Volltext