Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Vardit Adir"'
1
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
Autor: Adi Mory, R Wollstein, Tamar Paperna, G Larom-Khan, Vardit Adir, Hagit Baris Feldman, Alina Kurolap, Lena Sagi-Dain, Noam Adir, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Amir Peleg
Publikováno v: Clinical Dysmorphology. 30:71-75
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the ca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4086f18bc17bdb15b103f9ef93ac172
https://doi.org/10.1097/mcd.0000000000000342
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2
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes
Autor: Hila Ben-Pazi, Ronen Hady-Cohen, Dorit Lev, Luba Blumkin, Keren Yosovich, Tally Lerman-Sagie, Vardit Adir
Publikováno v: European Journal of Paediatric Neurology. 22:1133-1138
In 2003, a new syndrome was described in the Sephardi Jewish population, named progressive cerebello-cerebral atrophy (PCCA) based on the typical neuroradiological findings. Following the identification of the causal genes in 2010 and 2014, two types
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fac21a7e5a16e64ddf422bcf8684d53
https://doi.org/10.1016/j.ejpn.2018.07.003
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3
Whole‐exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot‐Marie‐Tooth neuropathy type 2U
Autor: Lena Sagi-Dain, Aharon Schif, Yusri Zoabi, Sadeh Orit, Nathanel Zelnik, Amir Peleg, Vardit Adir, Lilach Shemer
Publikováno v: Journal of the Peripheral Nervous System. 23:138-142
Charcot-Marie-Tooth (CMT) is a heterogeneous group of progressive disorders, characterized by chronic motor and sensory polyneuropathy. This hereditary disorder is related to numerous genes and varying inheritance patterns. Thus, many patients do not
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c973b9020747c64a2d7a851dde875089
https://doi.org/10.1111/jns.12264
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4
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel
Autor: Orit Reish, Zvi Borochowitz, Tzipora C Falik-Zaccai, Mordechai Shohat, Mazal Karpati, Avi Orr-Urtreger, Daphne Chapman-Shimshoni, Atalia Shtorch, Vardit Adir, Stavit A. Shalev, Yuval Yaron, Ruth Gershoni-Baruch, Fuad Fares
Publikováno v: Genetics in Medicine. 11:101-103
A retrospective population study was conducted to determine the carrier frequencies of recently identified mutations in Oriental Jewish cystic fibrosis patients.Data were collected from 10 medical centers that screened the following mutations: two sp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b5bcd1e7e17461a359a6349bb7c180
https://doi.org/10.1097/gim.0b013e31818efd59
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6
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene
Autor: Zvi Borochowitz, Haya Furman, Vardit Adir, Adel Shalata, Yasir Hujeirat, Stavit A. Shalev, Noam Adir
Publikováno v: Musclenerve. 41(4)
The aims of this study were to (1) characterize the clinical phenotype, (2) define the causative mutation, and (3) correlate the clinical phenotype with genotype in a large consanguineous Arab family with myotonia congenita. Twenty-four family member
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d60a7df92724821144acf0e3d77bc9
https://pubmed.ncbi.nlm.nih.gov/19697366
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7
Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update
Autor: Nurit Magal, Rachel Pesso, Daphne Chapman Shimshoni, Zvi Borochowitz, Vardit Adir, Mordechai Shohat, Orit Reish, M. Karpati
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 11(5)
Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2134dd38abba13fb77e73a0ba4f0af7b
https://pubmed.ncbi.nlm.nih.gov/19346956
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8
Detection of X Chromosome Aneuploidy Using Southern Blot Analysis During Routine Population-Based Screening for Fragile X Syndrome
Autor: Zvi Borochowitz, Vardit Adir, Elena Shahak, Hanna Dar
Publikováno v: Genetic Testing. 7:345-346
We report herein two cases where detection of X chromosome aneuploidy (cytogenetically proved 45,X/46XX and 47,XXX) was made possible by molecular diagnosis during population-based carrier screening for Fragile X syndrome, using Southern blot analysi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0f8ff901be7b71e5c88cf137d82717
https://doi.org/10.1089/109065703322783734
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