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Select record 21
ArticlesPeer ReviewedFull Text
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Author / Creator:Budde, Birgit S ; Namavar, Yasmin ; Barth, Peter G ; Poll-The, Bwee Tien ; Nürnberg, Gudrun ; Becker, Christian ; van Ruissen, Fred ; Weterman, Marian A J ; Fluiter, Kees ; T te Beek, Erik ; Aronica, Eleonora ; van der Knaap, Marjo S ; Höhne, Wolfgang ; Toliat, Mohammad Reza ; Crow, Yanick J ; Steinlin, Maja ; Voit, Thomas ; Roelens, Filip ; Brussel, Wim ; Brockmann, Knut ; Kyllerman, Marten ; Boltshauser, Eugen ; Hammersen, Gerhard ; Willemsen, Michèl ; Basel-Vanagaite, Lina ; Krägeloh-Mann, Ingeborg ; de Vries, Linda S ; Sztriha, Laszlo ; Muntoni, Francesco ; Ferrie, Colin D ; Battini, Roberta ; Hennekam, Raoul C M ; Grillo, Eugenio ; Beemer, Frits A ; Stoets, Loes M E ; Wollnik, Bernd ; Nürnberg, Peter ; Baas, Frank
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-09, Vol.40 (9), p.1113-1118
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Homozygous MED25 mutation implicated in eye–intellectual disability syndrome
Author / Creator:Basel-Vanagaite, Lina ; Smirin-Yosef, Pola ; Essakow, Jenna Lee ; Tzur, Shay ; Lagovsky, Irina ; Maya, Idit ; Pasmanik-Chor, Metsada ; Yeheskel, Adva ; Konen, Osnat ; Orenstein, Naama ; Weisz Hubshman, Monika ; Drasinover, Valerie ; Magal, Nurit ; Peretz Amit, Gaby ; Zalzstein, Yael ; Zeharia, Avraham ; Shohat, Mordechai ; Straussberg, Rachel ; Monté, Didier ; Salmon-Divon, Mali ; Behar, Doron M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2015-06, Vol.134 (6), p.577-587
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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Author / Creator:Basel-Vanagaite, Lina ; Yilmaz, Rüstem ; Tang, Sha ; Reuter, Miriam S. ; Rahner, Nils ; Grange, Dorothy K. ; Mortenson, Megan ; Koty, Patrick ; Feenstra, Heather ; Farwell Gonzalez, Kelly D. ; Sticht, Heinrich ; Boddaert, Nathalie ; Désir, Julie ; Anyane-Yeboa, Kwame ; Zweier, Christiane ; Reis, André ; Kubisch, Christian ; Jewett, Tamison ; Zeng, Wenqi ; Borck, Guntram
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-07, Vol.133 (7), p.939-949
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Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
Author / Creator:Cohen, Rony ; Halevy, Ayelet ; Aharoni, Sharon ; Kraus, Dror ; Konen, Osnat ; Basel-Vanagaite, Lina ; Goldberg–Stern, Hadassa ; Straussberg, Rachel
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2016-10, Vol.17 (4), p.251-257
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Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype
Author / Creator: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
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-05, Vol.48 (5), p.290-298
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Homozygous truncating PTPRF mutation causes athelia
Author / Creator:Borck, Guntram ; de Vries, Liat ; Wu, Hsin-Jung ; Smirin-Yosef, Pola ; Nürnberg, Gudrun ; Lagovsky, Irina ; Ishida, Luis Henrique ; Thierry, Patrick ; Wieczorek, Dagmar ; Nürnberg, Peter ; Foley, John ; Kubisch, Christian ; Basel-Vanagaite, Lina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-08, Vol.133 (8), p.1041-1047
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Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease
Author / Creator:Basel-Vanagaite, Lina ; Pelet, Anna ; Steiner, Zvi ; Munnich, Arnold ; Rozenbach, Yoram ; Shohat, Mordechai ; Lyonnet, Stanislas
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.242-245
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Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli- Arab inbred family segregating Hirschsprung disease
Author / Creator:Basel-Vanagaite, Lina ; Pelet, Anna ; Steiner, Zvi ; Munnich, Arnold ; Rozenbach, Yoram ; Shohat, Mordechai ; Lyonnet, Stanislas
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.242-245
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Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel
Author / Creator:Basel-Vanagaite, Lina ; Taub, Ellen ; Drasinover, Valerie ; Magal, Nurit ; Brudner, Alona ; Zlotogora, Joel ; Shohat, Mordechai
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing, 2008-03, Vol.12 (1), p.53-56
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Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
Author / Creator:Basel-Vanagaite, Lina ; Taub, Ellen ; Halpern, Gabrielle J ; Drasinover, Valerie ; Magal, Nurit ; Davidov, Bella ; Zlotogora, Joel ; Shohat, Mordechai
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.250-253
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6VOA2
Author / Creator:KORNAK, Uwe ; REYNDERS, Ellen ; URBAN, Zsolt ; GRUENEWALD, Stephanie ; ANNAERT, Wim ; BRUNNER, Han G ; VAN BOKHOVEN, Hans ; WEVERS, Ron ; MORAVA, Eva ; MATTHIJS, Gert ; VAN MALDERGEM, Lionel ; MUNDLOS, Stefan ; DIMOPOULOU, Aikaterini ; DOBYNS, William B ; QUELHAS, Dulce ; VILARINHO, Laura ; LEAO-TELES, Elisa ; GREALLY, Marie ; SEEMANOVA, Eva ; SIMANDLOVA, Martina ; SALIH, Mustafa ; NANDA, Arti ; BASEL-VANAGAITE, Lina ; VAN REEUWIJK, Jeroen ; KAYSERILI, Hulya ; YUKSEL-APAK, Memmune ; LARREGUE, Marc ; VIGNERON, Jacqueline ; GIURGEA, Sanda ; KORNAK, Uwe ; MUNDLOS, Stefan ; FISCHER, Bjoern ; RAJAB, Anna ; BUDDE, Birgit ; NÜRNBERG, Peter ; FOULQUIER, Francois ; LEFEBER, Dirk
Publisher:London: Nature Publishing Group
Journal title:Nature genetics, 2008, Vol.40 (1), p.32-34
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Select record 32
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H super(+)-ATPase subunit ATP6V0A2
Author / Creator:Kornak, Uwe ; Reynders, Ellen ; Dimopoulou, Aikaterini ; Van Reeuwijk, Jeroen ; Fischer, Bjoern ; Rajab, Anna ; Budde, Birgit ; Nuernberg, Peter ; Foulquier, Francois ; Lefeber, Dirk ; Urban, Zsolt ; Gruenewald, Stephanie ; Annaert, Wim ; Brunner, Han G ; Van Bokhoven, Hans ; Wevers, Ron ; Morava, Eva ; Matthijs, Gert ; Van Maldergem, Lionel ; Mundlos, Stefan
Journal title:Nature genetics, 2008-01, Vol.40 (1), p.32-34
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Select record 33
ArticlesPeer ReviewedFull Text
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Author / Creator:Kornak, Uwe ; Reynders, Ellen ; Dimopoulou, Aikaterini ; van Reeuwijk, Jeroen ; Fischer, Bjoern ; Rajab, Anna ; Budde, Birgit ; Nürnberg, Peter ; Foulquier, Francois ; Lefeber, Dirk ; Urban, Zsolt ; Gruenewald, Stephanie ; Annaert, Wim ; Brunner, Han G ; van Bokhoven, Hans ; Wevers, Ron ; Morava, Eva ; Matthijs, Gert ; Van Maldergem, Lionel ; Mundlos, Stefan
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-01, Vol.40 (1), p.32-34
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Select record 34
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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy: SCN1A MUTATIONS IN SMEI
Author / Creator:Claes, Lieve ; Ceulemans, Berten ; Audenaert, Dominique ; Smets, Katrien ; Löfgren, Ann ; Del-Favero, Jurgen ; Ala-Mello, Sirpa ; Basel-Vanagaite, Lina ; Plecko, Barbara ; Raskin, Salmo ; Thiry, Paul ; Wolf, Nicole I. ; Van Broeckhoven, Christine ; De Jonghe, Peter
Journal title:Human mutation, 2003-06, Vol.21 (6), p.615-621
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Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Author / Creator:Shen, Jun ; Oza, Andrea ; Ignacio Del Castillo ; Duzkale, Hatice ; Matsunaga, Tatsuo ; Pandya, Arti ; Kang, Hyunseok ; Mar-Heyming, Rebecca ; Guha, Saurav ; Moyer, Krista ; Lo, Christin ; Kenna, Margaret ; Alexander, John ; Zhang, Yan ; Hirsch, Yoel ; Luo, Minjie ; Cao, Ye ; Choy, Kwong Wai ; Yen-Fu, Cheng ; Avraham, Karen ; Hu, Xinhua ; Garrido, Gema ; Moreno-Pelayo, Miguel ; Greinwald, John ; Zhang, Kejian ; Zeng, Yukun ; Brownstein, Zippora ; Basel-Vanagaite, Lina ; Davidov, Bella ; Frydman, Moshe ; Weiden, Tzvi ; Narasimhan Nagan ; Willis, Alecia ; Hemphill, Sarah ; Grant, Andrew ; Siegert, Rebecca ; Distefano, Marina ; Sami Amr ; Rehm, Heidi ; Ahmad Abou Tayoun ; The Clingen Hearing Loss Working Group
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-12
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Showing 21 to 40 of 25 results

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

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Homozygous MED25 mutation implicated in eye–intellectual disability syndrome

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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

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Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

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Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

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Homozygous truncating PTPRF mutation causes athelia

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Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

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Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli- Arab inbred family segregating Hirschsprung disease

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Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel

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Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6VOA2

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H super(+)-ATPase subunit ATP6V0A2

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy: SCN1A MUTATIONS IN SMEI

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Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

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