Zobrazeno 1 - 10
of 25
pro vyhledávání: '"intra-familial variability"'
Autor:
Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, Cybel Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
Abstract Woodhouse-Sakati syndrome (WSS) is a rare eponymous disease described by Drs. Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes mellitus, intellectual disability, and ECG abnormalities. A couple of years later, a
Externí odkaz:
https://doaj.org/article/045fb9851fc5441092bef97e2e4fc97e
Autor:
Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100699- (2021)
Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; FeS assembly and distribution is performed via multi-step pathways. Variants affecting
Externí odkaz:
https://doaj.org/article/f079a3ffc9ef481eab1415a8fe09e5b2
Autor:
Hasret Ayyıldız Civan, Coleen Leitner, Iris Östreicher, Anna-Maria Schneider, Malte Cremer, Johannes A. Mayr, Rainer Rossi, Thomas Müller, Andreas R. Janecke
Publikováno v:
Children, Vol 8, Iss 6, p 503 (2021)
Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel
Externí odkaz:
https://doaj.org/article/283267f1a6574e14b2965504b26275ae
Autor:
Tova, Hershkovitz, Alina, Kurolap, Galit, Tal, Tamar, Paperna, Adi, Mory, Jeffrey, Staples, Karlla W, Brigatti, Claudia, Gonzaga-Jauregui, Elena, Dumin, Ann, Saada, Hanna, Mandel, Hagit, Baris Feldman
Publikováno v:
Molecular Genetics and Metabolism Reports
Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; Fe—S assembly and distribution is performed via multi-step pathways. Variants affecting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54525062c73b7b4371330eb7a84c4c87
https://pubmed.ncbi.nlm.nih.gov/33457206
https://pubmed.ncbi.nlm.nih.gov/33457206
Autor:
Adi Mory, Jeffrey Staples, Alina Kurolap, Hanna Mandel, Elena Dumin, Ann Saada, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Galit Tal, Tova Hershkovitz, Hagit Baris Feldman, Tamar Paperna
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100699-(2021)
Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; Fe-S assembly and distribution is performed via multi-step pathways. Variants affecting s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d047679420c88774de78e9c80e27254d
https://doi.org/10.1016/j.ymgmr.2020.100699
https://doi.org/10.1016/j.ymgmr.2020.100699
Akademický článek
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Akademický článek
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Autor:
Glanzmann, Brigitte, Abraham, Deepthi R., Moller, Marlo, Glashoff, Richard, van Coller, Ansia, Uren, Caitlin, Durrheim, Glenda, Urban, Michael, Hoal, Eileen G., Esser, Monika M., Rice, Gillian, I, Crow, Yanick J., Kinnear, Craig J.
Publikováno v:
Glanzmann, B, Abraham, D R, Moller, M, Glashoff, R, van Coller, A, Uren, C, Durrheim, G, Urban, M, Hoal, E G, Esser, M M, Rice, G I, Crow, Y J & Kinnear, C J 2018, ' VARIABLE EXPRESSION IN SAMHD1-ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME ', Current Allergy & Clinical Immunology, vol. 31, no. 4, pp. 265-270 . < https://journals.co.za/docserver/fulltext/caci_v31_n4_a15.pdf?expires=1561562604&id=id&accname=guest&checksum=F989D0201A11CD9651E8A5C38856D8EE >
Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood. This disorder is genetically heterogeneous, with mutations in seven genes having been identified to be disease-causing. Most patients with AGS present with poordevelopmental o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3818::2b38d892d19f6885b6bab0861e6322a0
https://www.research.manchester.ac.uk/portal/en/publications/variable-expression-in-samhd1--associated-familial-aicardigoutieres-syndrome(db1b4f02-8138-4b33-b6b7-948de64398a3).html
https://www.research.manchester.ac.uk/portal/en/publications/variable-expression-in-samhd1--associated-familial-aicardigoutieres-syndrome(db1b4f02-8138-4b33-b6b7-948de64398a3).html
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Luigi Citrigno, M. Muglia, R. Cortese, Antonio Scarafino, Eustachio D'Errico, Isabella Laura Simone, Angela Magariello, Alessandra Patitucci, Francesca Luisa Conforti, Rosanna Tortelli, A. A. Gasparro, Eugenio Distaso, Rosaria Mazzei
Publikováno v:
Journal of the neurological sciences 343 (2014): 218–220. doi:10.1016/j.jns.2014.05.063
info:cnr-pdr/source/autori:Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I./titolo:A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness/doi:10.1016%2Fj.jns.2014.05.063/rivista:Journal of the neurological sciences/anno:2014/pagina_da:218/pagina_a:220/intervallo_pagine:218–220/volume:343
info:cnr-pdr/source/autori:Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I./titolo:A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness/doi:10.1016%2Fj.jns.2014.05.063/rivista:Journal of the neurological sciences/anno:2014/pagina_da:218/pagina_a:220/intervallo_pagine:218–220/volume:343
Hereditary spastic paraplegia (HSP) includes a group of diseases characterized by progressive spastic weakness of the lower limbs (pure forms) with possible additional signs (complicated forms). The SPG10 form is due to alteration in the kinesin1A ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685c85d675136e92d7f7d49a679e5ece
https://pubmed.ncbi.nlm.nih.gov/24939576
https://pubmed.ncbi.nlm.nih.gov/24939576