Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Gadi Horev"'
Autor:
Esther Leshinsky-Silver, Daphna Marom, Stavit A. Shalev, Rachel Straussberg, Dorit Lev, Esther Sanado-Inbar, Gadi Horev, Tally Lerman-Sagie, Yaniv Lakovsky
Publikováno v:
Journal of Child Neurology. 30:490-495
Aicardi-Goutières syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases H2A, B, and C, SAM doma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ce64fd3bab68fcf7f9d5db2701d903
https://doi.org/10.1177/0883073814549241
https://doi.org/10.1177/0883073814549241
Publikováno v:
American journal of medical genetics. Part A. 173(2)
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597f57e1e798d6aab63227f049b66694
https://pubmed.ncbi.nlm.nih.gov/27759939
https://pubmed.ncbi.nlm.nih.gov/27759939
Autor:
Avinoam Shuper, Michael Schwarz, Boaz Karmazyn, Gadi Horev, Shalom Michovitz, Liora Kornreich, Eyal Fenig, Issac Yaniv, Ian J. Cohen
Publikováno v:
Pediatric Radiology. 35:872-879
Background: Pontine tumors carry the worst prognosis of all brain tumors. In most cases, the diagnosis is based solely on MR imaging, without biopsy. Objective: To describe the MR findings of pontine tumors at diagnosis and during follow-up and corre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c735f54a3529262bb2ac39d5d789c34f
https://doi.org/10.1007/s00247-005-1502-y
https://doi.org/10.1007/s00247-005-1502-y
Publikováno v:
European Journal of Endocrinology. :499-503
Objective: To investigate abnormalities in the craniofacial structures and in the brain in patients with Laron syndrome. Design: Eleven patients with classical Laron syndrome, nine untreated adults aged 36 ‐ 68 years and two children aged 4 and 9 y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cc1c7e802fab4b9196f1b5ee02fa43
https://doi.org/10.1530/eje.0.1460499
https://doi.org/10.1530/eje.0.1460499
Autor:
Raphael Weitz, S. Michowitz, Gadi Horev, Michael Schwarz, Rina Zaizov, Avinoam Shuper, Ian J. Cohen, Liora Kornreich
Publikováno v:
Pediatric Hematology and Oncology. 16:407-414
The aim of the study was to delineate the clinical characteristics of visual pathway tumor in children without neurofibromatosis-I. The authors reviewed the charts of all patients meeting these criteria (n = 12) who were followed in their center over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f49c6497fd205305c46b4cd2849234f
https://doi.org/10.1080/088800199276958
https://doi.org/10.1080/088800199276958
Publikováno v:
Blood Cells, Molecules, and Diseases. 24:296-302
ABSTRACT: Patients with type I Gaucher disease often present as adults with a mild disease and with less severe genetic mutations, especially 1226G/1226G (N370S/N370S). Patients presenting as children have an excess of compound heterozygotes of N370S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c92a28cfd1aabc473ba5dcaafab732f
https://doi.org/10.1006/bcmd.1998.0195
https://doi.org/10.1006/bcmd.1998.0195
Publikováno v:
Pediatric Radiology. 37:97-99
Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17de6e0ae0568830654d5ac4f9fc77f1
https://doi.org/10.1007/s00247-006-0342-8
https://doi.org/10.1007/s00247-006-0342-8
Publikováno v:
Pediatric Radiology. 26:184-187
Brachmann-de Lange syndrome is a well-described congenital disorder. Skeletal anomalies and respiratory infections are its hallmarks. To the known imaging signs, the authors add tracheomegaly, which has not been reported so far.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8222c6ff158989a36b013b2124f203c
https://doi.org/10.1007/bf01405295
https://doi.org/10.1007/bf01405295
Autor:
Rina Zaizov, Gadi Horev, Avinoam Shuper, Liora Kornreich, I. Bloch, S. Michowitz, Ian J. Cohen
Publikováno v:
Pediatric Hematology and Oncology. 13:443-449
A 7-month-old infant with typical features of diencephalic syndrome (DES) associated with a hypothalamic mass, most probably a glioma, was treated with chemotherapy. The tumor showed clear shrinkage, but after more than 2 years regrowth was noted. Du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c9ab0719be5c447a9020633323d60e
https://doi.org/10.3109/08880019609030856
https://doi.org/10.3109/08880019609030856
Publikováno v:
Pediatric Radiology. 25:7-11
To evaluate the incidence of abnormal intracranial findings in children with central precocious puberty, 62 children (51 girls, 11 boys) were examined by computerized tomography and/or magnetic resonance imaging (MRI) of the brain. Forty-four had nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e045564be689a1addba6aae947da68
https://doi.org/10.1007/bf02020830
https://doi.org/10.1007/bf02020830