Zobrazeno 1 - 10
of 229
pro vyhledávání: '"L Basel-Vanagaite"'
Autor:
R Solomon-Zemler, L Basel-Vanagaite, D Steier, S Yakar, E Mel, M Phillip, L Bazak, D Bercovich, H Werner, L de Vries
Publikováno v:
Endocrine Connections, Vol 6, Iss 6, Pp 395-403 (2017)
Mutation in the insulin-like growth factor-1 receptor (IGF1R) gene is a rare cause for intrauterine and postnatal growth disorders. Patients identified with IGF1R mutations present with either normal or impaired glucose tolerance. None of the cases d
Externí odkaz:
https://doaj.org/article/de87e5bee4da4adbaab195e6612885c6
Autor:
I, Maya, S, Yacobson, S, Kahana, J, Yeshaya, T, Tenne, I, Agmon-Fishman, L, Cohen-Vig, M, Shohat, L, Basel-Vanagaite, R, Sharony
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 50(3)
An association between isolated, increased nuchal translucency thickness (NT) and pathogenic findings on chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies use a NT cut-off value of 3.5 mm. Howe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::78e29269ae344d93ee944ddc38d777f7
https://pubmed.ncbi.nlm.nih.gov/28938059
https://pubmed.ncbi.nlm.nih.gov/28938059
Autor:
M, Weisz Hubshman, L, Basel-Vanagaite, A, Krauss, O, Konen, Y, Levy, B Z, Garty, P, Smirin-Yosef, I, Maya, I, Lagovsky, E, Taub, D, Marom, D, Gaash, K, Shichrur, S, Avigad, L, Hayman-Manzur, A, Villa, C, Sobacchi, M, Shohat, I, Yaniv, J, Stein
Publikováno v:
Clinical genetics. 91(6)
Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7da016941a01d950f5fb3871a54c7e57
https://pubmed.ncbi.nlm.nih.gov/27808398
https://pubmed.ncbi.nlm.nih.gov/27808398
Publikováno v:
Clinical genetics. 89(5)
Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ba16a01b2573133c043dac7b0f5307e
https://pubmed.ncbi.nlm.nih.gov/26663098
https://pubmed.ncbi.nlm.nih.gov/26663098
Autor:
Amihood Singer, Yoram Nevo, Sharon Aharoni, Naama Orenstein, L. Basel-Vanagaite, Huda Mussaffi
Publikováno v:
Neuromuscular Disorders. 27:S137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8069eacaeb216498643ead08e84cfb9
https://doi.org/10.1016/j.nmd.2017.06.554
https://doi.org/10.1016/j.nmd.2017.06.554
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
Publikováno v:
Molecular syndromology. 1(5)
Hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM) are both caused by mutations in the CDH3 gene. In this report, we describe a family with EEM syndrome caused by a novel CDH3 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c10c60ba4cd84eb20bac6cde141d3ed2
https://pubmed.ncbi.nlm.nih.gov/22140374
https://pubmed.ncbi.nlm.nih.gov/22140374
Autor:
L, Basel-Vanagaite, R, Straussberg, M J, Friez, D, Inbar, L, Korenreich, M, Shohat, C E, Schwartz
Publikováno v:
Clinical genetics. 69(5)
Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. Inter- and intra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e3a68963b44b65f084b43b2ddfa2ae8
https://pubmed.ncbi.nlm.nih.gov/16650080
https://pubmed.ncbi.nlm.nih.gov/16650080
Autor:
Brenda J. Barry, Bernard S. Chang, M.C. Manzini, Danielle Gleason, William B. Dobyns, Annapurna Poduri, Christopher A. Walsh, Jennifer N. Partlow, Robert Sean Hill, M.Z. Seidhamed, Mustafa A. Salih, L. Basel-Vanagaite
Publikováno v:
Neuromuscular Disorders. 19:552-553
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a75606f44d25630db7069ba4187d689
https://doi.org/10.1016/j.nmd.2009.06.033
https://doi.org/10.1016/j.nmd.2009.06.033
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