Chromosomal microarray analysis in fetuses with aberrant right subclavian artery von Maya, I., Kahana, S., Yeshaya, J., Tenne, T., Yacobson, S., Agmon‐Fishman, I., Cohen‐Vig, L., Levi, A., Reinstein, E., Basel‐Vanagaite, L., Sharony, R.

Volltext

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis von Basel-Vanagaite, L., Wolf, L., Orin, M., Larizza, L., Gervasini, C., Krantz, I.D., Deardoff, M.A.

Volltext

Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis von Maya, I., Yacobson, S., Kahana, S., Yeshaya, J., Tenne, T., Agmon‐Fishman, I., Cohen‐Vig, L., Shohat, M., Basel‐Vanagaite, L., Sharony, R.

Volltext

Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay von Orenstein, N., Weiss, K., Oprescu, S.N., Shapira, R., Kidron, D., Vanagaite‐Basel, L., Antonellis, A., Muenke, M.

Volltext

Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis von Weisz Hubshman, M., Basel‐Vanagaite, L., Krauss, A., Konen, O., Levy, Y., Garty, B.Z., Smirin‐Yosef, P., Maya, I., Lagovsky, I., Taub, E., Marom, D., Gaash, D., Shichrur, K., Avigad, S., Hayman‐Manzur, L., Villa, A., Sobacchi, C., Shohat, M., Yaniv, I., Stein, J.

Volltext

Genetics of autosomal recessive non-syndromic mental retardation: recent advances von Basel-Vanagaite, L

Volltext

OP08.01: Cytogenetic analysis in fetuses with late onset abnormal sonographic findings von Bardin, R., Hadar, E., Meizner, I., Basel‐Vanagaite, L., Haizler‐Cohen, L., Wiznitzer, A., Maya, I.

Volltext

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN von Maydan, Gal, Noyman, Iris, Har-Zahav, Adi, Neriah, Ziva Ben, Pasmanik-Chor, Metsada, Yeheskel, Adva, Albin-Kaplanski, Adi, Maya, Idit, Magal, Nurit, Birk, Efrat, Simon, Amos J, Halevy, Ayelet, Rechavi, Gideon, Shohat, Mordechai, Straussberg, Rachel, Basel-Vanagaite, Lina

Volltext

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family von Eytan, O., Sarig, O., Israeli, S., Mevorah, B., Basel-Vanagaite, L., Sprecher, E.

Volltext

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype von Balasubramanian, M, Smith, K, Basel-Vanagaite, L, Feingold, M F, Brock, P, Gowans, G C, Vasudevan, P C, Cresswell, L, Taylor, E J, Harris, C J, Friedman, N, Moran, R, Feret, H, Zackai, E H, Theisen, A, Rosenfeld, J A, Parker, M J

Volltext

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation von Basel-Vanagaite, L, Attia, R, Yahav, M, Ferland, R J, Anteki, L, Walsh, C A, Olender, T, Straussberg, R, Magal, N, Taub, E, Drasinover, V, Alkelai, A, Bercovich, D, Rechavi, G, Simon, A J, Shohat, M

Volltext

A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia von Solomon-Zemler, R, Basel-Vanagaite, L, Steier, D, Yakar, S, Mel, E, Phillip, M, Bazak, L, Bercovich, D, Werner, H, de Vries, L

Volltext

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype von Avrahami, L, Maas, S, Pasmanik-Chor, M, Rainshtein, L, Magal, N, Smitt, JHS, Van Marle, J, Shohat, M, Basel-Vanagaite, L

Volltext

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type von VAN MALDERGEM, L, YUKSEL-APAK, M, JAEKEN, J, MUNDLOS, S, DOBYNS, W. B, KAYSERILI, H, SEEMANOVA, E, GIURGEA, S, BASEL-VANAGAITE, L, LEAO-TELES, E, VIGNERON, J, FOULON, M, GREALLY, M

Volltext

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel von Borck, G, Rainshtein, L, Hellman-Aharony, S, Volk, AE, Friedrich, K, Taub, E, Magal, N, Kanaan, M, Kubisch, C, Shohat, M, Basel-Vanagaite, L

Volltext

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival von Hucthagowder, Vishwanathan, Morava, Eva, Kornak, Uwe, Lefeber, Dirk J., Fischer, Björn, Dimopoulou, Aikaterini, Aldinger, Annika, Choi, Jiwon, Davis, Elaine C., Abuelo, Dianne N., Adamowicz, Maciej, Al-Aama, Jumana, Basel-Vanagaite, Lina, Fernandez, Bridget, Greally, Marie T., Gillessen-Kaesbach, Gabriele, Kayserili, Hulya, Lemyre, Emmanuelle, Tekin, Mustafa, Türkmen, Seval, Tuysuz, Beyhan, Yüksel-Konuk, Berrin, Mundlos, Stefan, Van Maldergem, Lionel, Wevers, Ron A., Urban, Zsolt

Volltext

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family von Abu-Rashid, M, Mahajnah, M, Jaber, L, Kornreich, L, Bar-On, E, Basel-Vanagaite, L, Soffer, D, Koenig, M, Straussberg, R

Volltext

Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘ De-Novo ’ TP53 Mutation von Salmon, A, Amikam, D, Sodha, N, Davidson, S, Basel-Vanagaite, L, Eeles, R.A, Abeliovich, D, Peretz, T

Volltext

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development von Peyrard-Janvid, Myriam, Leslie, Elizabeth J., Kousa, Youssef A., Smith, Tiffany L., Dunnwald, Martine, Magnusson, Måns, Lentz, Brian A., Unneberg, Per, Fransson, Ingegerd, Koillinen, Hannele K., Rautio, Jorma, Pegelow, Marie, Karsten, Agneta, Basel-Vanagaite, Lina, Gordon, William, Andersen, Bogi, Svensson, Thomas, Murray, Jeffrey C., Cornell, Robert A., Kere, Juha, Schutte, Brian C.

Volltext

Expanding the phenotypic spectrum of L1CAM-associated disease von Basel-Vanagaite, L, Straussberg, R, Friez, MJ, Inbar, D, Korenreich, L, Shohat, M, Schwartz, CE

Volltext