نتائج البحث - "Cecilia Anichini"

المساهمون: Beygo, J, Citro, V, Sparago, A, De Crescenzo, A, Cerrato, Flavia, Heitmann, M, Rademacher, K, Guala, A, Enklaar T., Anichini C, Cirillo Silengo, M, Graf, N, Prawitt, D, Cubellis, Mv, Horstemke, B, Buiting, K, Riccio, Andrea, J., Beygo, V., Citro, A., Sparago, A., De Crescenzo, F., Cerrato, M., Heitmann, K., Rademacher, A., Guala, T., Enklaar, C., Anichini, M. C., Silengo, N., Graf, D., Prawitt, Cubellis, MARIA VITTORIA, B., Horstemke, K., Buiting, A., Riccio

المصدر: Human molecular genetics
22(3) (2013): 544–557. doi:10.1093/hmg/dds465
info:cnr-pdr/source/autori:Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A./titolo:The molecular function and clinical phenotype of partial deletions of the IGF2%2FH19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites/doi:10.1093%2Fhmg%2Fdds465/rivista:Human molecular genetics (Print)/anno:2013/pagina_da:544/pagina_a:557/intervallo_pagine:544–557/volume:22(3)
Human Molecular Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc68c41f6160eb6b91717145212bb5fa
http://hdl.handle.net/11591/187142

7

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

المؤلفون: V. Giannerini, Elena Moretti, Nicola Antonio Pascarelli, Giulia Collodel, Michela Geminiani, Cecilia Anichini

المصدر: Asian journal of andrology. 11(3)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0f544889a11d53959939533b58dcc10
https://pubmed.ncbi.nlm.nih.gov/19349951

Find this article in full text from ProQuest

8

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

المساهمون: Cordeddu V., Di Schiavi E., Pennacchio L.A., Ma'ayan A., Sarkozy A., Fodale V., Cecchetti S., Cardinale A., Martin J., Schackwitz W., Lipzen A., Zampino G., Mazzanti L., Digilio M.C., Martinelli S., Flex E., Lepri F., Bartholdi D., Kutsche K., Ferrero G.B., Anichini C., Selicorni A., Rossi C., Tenconi R., Zenker M., Merlo D., Dallapiccola B., Iyengar R., Bazzicalupo P., Gelb B.D., Tartaglia M.

المصدر: Nature genetics
41 (2009): 1022–1026.
info:cnr-pdr/source/autori:Cordeddu V.; Di Schiavi E.; Pennacchio L.A.; Ma'ayan A.; Sarkozy A.; Fodale V.; Cecchetti S.; Cardinale A.; Martin J.; Schackwitz W.; Lipzen A.; Zampino G.; Mazzanti, L.; Digilio M.C.; Martinelli S.; Flex E.; Lepri F.; Bartholdi D.; Kutsche K.; Ferrero G.B.; Anichini C.; Selicorni A.; Rossi C.; Tenconi R.; Zenker M.; Merlo D.; Dallapiccola B.; Iyengar R.; Bazzicalupo P.; Gelb B.D. & Tartaglia M./titolo:Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair/doi:/rivista:Nature genetics (Print)/anno:2009/pagina_da:1022/pagina_a:1026/intervallo_pagine:1022–1026/volume:41

مصطلحات موضوعية: medicine.medical_specialty, Indoles, Mutation, Missense, LOOSE-ANAGEN-HAIR, Biology, medicine.disease_cause, Myristic Acid, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Missense mutation, Fluorescent Antibody Technique, Indirect, Cytoskeleton, Germ-Line Mutation, Caenorhabditis elegans, Fluorescent Dyes, 030304 developmental biology, Cell Nucleus, 0303 health sciences, Mutation, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, N-Myristoylation, SHOC2 MUTATION, medicine.disease, biology.organism_classification, Phenotype, Actins, Cell biology, Endocrinology, NOONAN-LIKE SYNDROME, Lipid modification, Fatty acylation, 030217 neurology & neurosurgery, Noonan Syndrome with Multiple Lentigines, Hair