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Daniella Landau
Researcher at Soroka Medical Center
Publications - 8
Citations - 419
Daniella Landau is an academic researcher from Soroka Medical Center. The author has contributed to research in topics: Pregnancy & Population. The author has an hindex of 6, co-authored 8 publications receiving 371 citations. Previous affiliations of Daniella Landau include Israel Ministry of Health.
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Journal ArticleDOI
International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies.
Guido Cocchi,Silvia Gualdi,Caroline Bower,Jane Halliday,Björn Jonsson,Åsa Myrelid,Pierpaolo Mastroiacovo,Emmanuelle Amar,Marian K. Bakker,Andrea Correa,Bérénice Doray,Kari Klungsor Melve,Babak Koshnood,Daniella Landau,Osvaldo M. Mutchinick,Anna Pierini,Anukka Ritvanen,Vera Ruddock,Giocchino Scarano,Barbara Sibbald,Antonin Sipek,Romano Tenconi,Dave Tucker,Göran Annerén +23 more
TL;DR: In this paper, the authors examined trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) over a 12-year period (1993-2004).
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Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C
Hila Romi,Idan Cohen,Daniella Landau,Suliman Alkrinawi,Baruch Yerushalmi,Reli Hershkovitz,Nitza Newman-Heiman,Garry R. Cutting,Rivka Ofir,Sara Sivan,Ohad S. Birk,Ohad S. Birk +11 more
TL;DR: It is shown that in two unrelated consanguineous Bedouin kindreds, an autosomal-recessive phenotype of meconium ileus that is not associated with cystic fibrosis (CF) is caused by different homozygous mutations in GUCY2C, leading to a dramatic reduction or fully abrogating the enzymatic activity of the encoded guanlyl cyclase 2C.
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A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Michael Volodarsky,Barak Markus,Idan Cohen,Orna Staretz-Chacham,Hagit Flusser,Daniella Landau,Ilan Shelef,Yshaia Langer,Yshaia Langer,Ohad S. Birk,Ohad S. Birk +10 more
TL;DR: In this article, a single homozygosity locus of approximately 2 Mb on chromosome 9 common to all affected individuals was identified, leading to an early stop codon and a truncated protein, as well as low TMEM38B mRNA levels.
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Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
Idan Cohen,Eldad Silberstein,Yonatan Perez,Daniella Landau,Khalil Elbedour,Yshaia Langer,Rotem Kadir,Michael Volodarsky,Sara Sivan,Ginat Narkis,Ohad S. Birk,Ohad S. Birk +11 more
TL;DR: F-actin staining in diseased fibroblasts showed apparently intact cell cytoskeleton and morphology, suggesting the EOGT mutation acts not through perturbation of cytos skeleton but through other mechanisms yet to be elucidated.
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Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
TL;DR: The phenotypic heterogeneity in LAD deficiency is not directly correlated with the residual LAD activity but rather with its impact on the multienzymatic complex activity.