Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Lilach Benyamini"'
Autor:
Lilach Benyamini, Galia Barash, Ayelet Livne, Marianna Rachmiel, Pamela Bowman, Haim Bassan, Eli Heyman
Publikováno v:
Acta Diabetologica. 58:1665-1672
To report a novel mutation associated with developmental delay, epilepsy, and neonatal diabetes—DEND Syndrome, responsive to a novel management combination. We describe the investigation, treatment, and genetic diagnosis of a newborn diagnosed with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155fa8b215643049ef352a33af7adb82
https://doi.org/10.1007/s00592-021-01763-1
https://doi.org/10.1007/s00592-021-01763-1
Autor:
Haim Bassan, Dorit Lev, Kazuhiro Iwama, Daniel Shapira, Revital Ben-Haim, Hirotomo Saitsu, Michal Tzadok, Tally Lerman-Sagie, Naomichi Matsumoto, Mirit Lazinger, Eli Heyman, Lilach Benyamini
Publikováno v:
Journal of Pediatric Neurology. 18:027-032
The chromosome alignment maintaining phosphoprotein 1 (CHAMP1) gene has a key role in neurodevelopment. It is involved in kinetochore-microtubule attachment and in the regulation of chromosomes alignment during mitosis. So far, 17 cases of CHAMP1 mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::257f3dde673970c245c24c86b97c34fa
https://doi.org/10.1055/s-0039-1683449
https://doi.org/10.1055/s-0039-1683449
Autor:
Ayala Frumkin, Lena Sagi-Dain, Reuven Sharony, Adel Shalata, Morad Kahyat, Reeval Segel, Shlomit Rienstein, Lilach Benyamini, Arie Koifman, Amihood Singer, Idit Maya, Shay Ben Shachar
Publikováno v:
Journal of Perinatal Medicine. 47:30-34
ObjectiveTo examine the risk for abnormal chromosomal microarray analysis (CMA) results among fetuses with an apparently isolated pelvic kidney.MethodsData from all CMA analyses performed due to an isolated pelvic kidney reported to the Israeli Minis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::101f4349c72a2dc8be99fd1d8f248a66
https://doi.org/10.1515/jpm-2017-0321
https://doi.org/10.1515/jpm-2017-0321
Publikováno v:
Journal of the Endocrine Society
Mutations in KCNJ11 gene cause a variety of persistent neonatal diabetes mellitus syndromes (PNDM), with and without developmental delay and epilepsy presentations (developmental delay, epilepsy, and neonatal diabetes - DEND Syndrome). We report a he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9033bd5503c8f2b5ab8d93e67dea719
http://europepmc.org/articles/PMC8089633
http://europepmc.org/articles/PMC8089633
Autor:
Todd E. Scheetz, Ruti Parvari, Yehudah Roth, Lilach Benyamini, Val C. Sheffield, Orit Reish, Huda Mussaffi, Liam Aspit, Sylvie Polak-Charcon, Tatiana Baboushkin, Arielle Zouella
Publikováno v:
Human Mutation. 37:727-731
We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7c5453e3aa92aaaf3e69d465c87514b
https://doi.org/10.1002/humu.22998
https://doi.org/10.1002/humu.22998
Autor:
Miriam Regev, Emad Muhammad, Orit Reish, Yusuke Ohno, Todd E. Scheetz, Lilach Benyamini, Yakov Fellig, Ruti Parvari, Val C. Sheffield, Charles Searby, Adam P. DeLuca, Akio Kihara
Publikováno v:
Human Molecular Genetics
Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::487fafe384199f2dceb9efd2327d044f
http://europepmc.org/articles/PMC3842179
http://europepmc.org/articles/PMC3842179
Autor:
Orit, Reish, Liam, Aspit, Arielle, Zouella, Yehudah, Roth, Sylvie, Polak-Charcon, Tatiana, Baboushkin, Lilach, Benyamini, Todd E, Scheetz, Huda, Mussaffi, Val C, Sheffield, Ruti, Parvari
Publikováno v:
Human mutation. 37(8)
We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::22f47a09b4647b11dfe117e60dec6965
https://pubmed.ncbi.nlm.nih.gov/27060491
https://pubmed.ncbi.nlm.nih.gov/27060491
Autor:
Lilach Benyamini, Eyal Zimlichman, Dror Mandel, Francis B. Mimouni, Robert Wartenfeld, Tzippora Shochat, Howard Amital, Yitshak Kreiss
Publikováno v:
International Journal for Quality in Health Care. 16:175-180
Background. Assessment of quality of health care is a major ongoing project of the Israeli Defense Forces (IDF) medical corps. Objectives. (i) To describe mechanisms of quality assessment (QA) in IDF primary care clinics; (ii) to compare quality of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221de39e27ca1b998b502d5cc41a991a
https://doi.org/10.1093/intqhc/mzh027
https://doi.org/10.1093/intqhc/mzh027
Autor:
Benjamin Bar-Oz, Matitiahu Berkovitch, Ingrid Soriano, Deena M. Zimmerman, Lilach Benyamini, Revital Greenberg, Oxana Bortnik, Mordechai Bulkowstein
Publikováno v:
Drug Safety. 26:925-935
During lactation, multiple situations can arise that require maternal pharmacological treatment. Because of the many health advantages of human milk to infants, breast feeding should be interrupted only when the needed drug might be harmful to the nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba6cb6bf371a700256f3b99944a95bb
https://doi.org/10.2165/00002018-200326130-00002
https://doi.org/10.2165/00002018-200326130-00002
Autor:
Lilach Benyamini, Paul Merlob, Bracha Stahl, Rony Braunstein, Oxana Bortnik, Mordechai Bulkowstein, Deena Zimmerman, Matitiahu Berkovitch
Publikováno v:
Therapeutic Drug Monitoring; Aug2005, Vol. 27 Issue 4, p499-502, 4p