Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis
Basel-Vanagaite, L., Wolf, L., Orin, M., Larizza, L., Gervasini, C., Krantz, I.D., Deardoff, M.A.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
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Journal Article
Chromosomal microarray analysis in fetuses with aberrant right subclavian artery
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.
Published in Ultrasound in obstetrics & gynecology (01.03.2017)
Published in Ultrasound in obstetrics & gynecology (01.03.2017)
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Journal Article
Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis
Maya, I., Yacobson, S., Kahana, S., Yeshaya, J., Tenne, T., Agmon‐Fishman, I., Cohen‐Vig, L., Shohat, M., Basel‐Vanagaite, L., Sharony, R.
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
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Journal Article
Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay
Orenstein, N., Weiss, K., Oprescu, S.N., Shapira, R., Kidron, D., Vanagaite‐Basel, L., Antonellis, A., Muenke, M.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Journal Article
Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis
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.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Journal Article
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
Eytan, O., Sarig, O., Israeli, S., Mevorah, B., Basel-Vanagaite, L., Sprecher, E.
Published in Clinical and experimental dermatology (01.03.2014)
Published in Clinical and experimental dermatology (01.03.2014)
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Journal Article
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia
Solomon-Zemler, R, Basel-Vanagaite, L, Steier, D, Yakar, S, Mel, E, Phillip, M, Bazak, L, Bercovich, D, Werner, H, de Vries, L
Published in Endocrine Connections (01.08.2017)
Published in Endocrine Connections (01.08.2017)
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Journal Article
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel
Borck, G, Rainshtein, L, Hellman-Aharony, S, Volk, AE, Friedrich, K, Taub, E, Magal, N, Kanaan, M, Kubisch, C, Shohat, M, Basel-Vanagaite, L
Published in Clinical genetics (01.09.2012)
Published in Clinical genetics (01.09.2012)
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Journal Article
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
Avrahami, L, Maas, S, Pasmanik-Chor, M, Rainshtein, L, Magal, N, Smitt, JHS, Van Marle, J, Shohat, M, Basel-Vanagaite, L
Published in Clinical genetics (01.07.2008)
Published in Clinical genetics (01.07.2008)
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Journal Article
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
Basel-Vanagaite, L., Pasmanik-Chor, M., Lurie, R., Yeheskel, A., Kjaer, K.W.
Published in Molecular syndromology (01.01.2010)
Published in Molecular syndromology (01.01.2010)
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Journal Article
Expanding the phenotypic spectrum of L1CAM-associated disease
Basel-Vanagaite, L, Straussberg, R, Friez, MJ, Inbar, D, Korenreich, L, Shohat, M, Schwartz, CE
Published in Clinical genetics (01.05.2006)
Published in Clinical genetics (01.05.2006)
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Journal Article
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
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
Published in Journal of medical genetics (01.06.2011)
Published in Journal of medical genetics (01.06.2011)
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Journal Article
Infantile bilateral striatal necrosis maps to chromosome 19q
Basel-Vanagaite, L, Straussberg, R, Ovadia, H, Kaplan, A, Magal, N, Shorer, Z, Shalev, H, Walsh, C, Shohat, M
Published in Neurology (13.01.2004)
Published in Neurology (13.01.2004)
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Journal Article
OP08.01: Cytogenetic analysis in fetuses with late onset abnormal sonographic findings
Bardin, R., Hadar, E., Meizner, I., Basel‐Vanagaite, L., Haizler‐Cohen, L., Wiznitzer, A., Maya, I.
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
Published in Ultrasound in obstetrics & gynecology (01.09.2017)
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Journal Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
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
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype
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
Published in Journal of medical genetics (01.05.2011)
Published in Journal of medical genetics (01.05.2011)
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Journal Article
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
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
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Journal Article
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type
Van Maldergem, L, Yuksel-Apak, M, Kayserili, H, Seemanova, E, Giurgea, S, Basel-Vanagaite, L, Leao-Teles, E, Vigneron, J, Foulon, M, Greally, M, Jaeken, J, Mundlos, S, Dobyns, W B
Published in Neurology (11.11.2008)
Published in Neurology (11.11.2008)
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Journal Article
Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘ De-Novo ’ TP53 Mutation
Salmon, A, Amikam, D, Sodha, N, Davidson, S, Basel-Vanagaite, L, Eeles, R.A, Abeliovich, D, Peretz, T
Published in Clinical oncology (Royal College of Radiologists (Great Britain)) (01.09.2007)
Published in Clinical oncology (Royal College of Radiologists (Great Britain)) (01.09.2007)
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