Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Limor Rainshtein"'
Autor:
Mordechai Shohat, Lina Basel-Vanagaite, Moien Kanaan, Alexander E Volk, Katrin Friedrich, Guntram Borck, Nurit Magal, Christian Kubisch, Limor Rainshtein, Ellen Taub, S Hellman-Aharony
Publikováno v:
Clinical Genetics. 82:271-276
Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62268e228709f931d94be3e1ad1a6644
https://doi.org/10.1111/j.1399-0004.2011.01741.x
https://doi.org/10.1111/j.1399-0004.2011.01741.x
Autor:
Saskia M. Maas, Lina Basel-Vanagaite, Nurit Magal, L. Avrahami, Mordechai Shohat, Limor Rainshtein, J. van Marle, J. H. S. Smitt, Metsada Pasmanik-Chor
Publikováno v:
Clinical genetics, 74(1), 47-53. Wiley-Blackwell
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3fe6b4891982fd950b693b1495ca0b4
https://doi.org/10.1111/j.1399-0004.2008.01006.x
https://doi.org/10.1111/j.1399-0004.2008.01006.x
Autor:
Shirley Saban, Mordechai Shohat, Margarita Indelman, Eli Sprecher, Metsada Pasmanik-Chor, Revital Attia, Nurit Magal, Limor Rainshtein, Lina Basel-Vanagaite, Raziel Lurie, Dan Ben Amitai, Akemi Ishida-Yamamoto, Alex Zvulunov
Publikováno v:
The American Journal of Human Genetics. 80:467-477
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair. Using homozygosity mapping, we mapped the disease locus to 11q24.3-q25. We screened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::658a9da61b683c5c9f4885ef2f967894
https://doi.org/10.1086/512487
https://doi.org/10.1086/512487
Autor:
Doron Gothelf, Rachel Straussberg, Dov Inbar, Lina Basel-Vanagaite, Raoul C.M. Hennekam, Limor Rainshtein
Publikováno v:
American journal of medical genetics. Part A, 143A(15), 1687-1691. Wiley-Liss Inc.
We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45cda283314498db79c1fd204ec023c
https://pure.amc.nl/en/publications/autosomal-recessive-mental-retardation-syndrome-with-anterior-maxillary-protrusion-and-strabismus-mrams-syndrome(ebe24f3f-8e52-4828-b2b5-7039c0eaa7bb).html
https://pure.amc.nl/en/publications/autosomal-recessive-mental-retardation-syndrome-with-anterior-maxillary-protrusion-and-strabismus-mrams-syndrome(ebe24f3f-8e52-4828-b2b5-7039c0eaa7bb).html
Autor:
Lina Basel‐Vanagaite, Liora Muncher, Rachel Straussberg, Metsada Pasmanik‐Chor, Michal Yahav, Limor Rainshtein, Christopher A. Walsh, Nurit Magal, Ellen Taub, Valerie Drasinover, Hanna Shalev, Revital Attia, Gideon Rechavi, Amos J. Simon, Mordechai Shohat
Publikováno v:
Annals of Neurology; Aug2006, Vol. 60 Issue 2, p214-222, 9p
Autor:
Nurit Magal, Laurence Colleaux, Mordechai Shohat, Noa Shoshani, Metsada Pasmanik-Chor, Gal Maydan, Efrat Birk, Adi Albin, Christopher A. Walsh, Doron Gothelf, Adi Har-Zahav, Konrad Noben-Trauth, Liora Kornreich, Peter Wang, Amos J. Simon, Lina Basel-Vanagaite, Chiara Manzini, Gideon Rechavi, Limor Rainshtein, David J. Tischfield, Idit Maya, Yair Morad
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 87 (5), pp.694-700. ⟨10.1016/j.ajhg.2010.10.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 87 (5), pp.694-700. ⟨10.1016/j.ajhg.2010.10.005⟩
Intellectual disability (ID) affects 1%-3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe83291c09e3cb7da32d405f4ed08d8