Výsledky vyhledávání - "Abdallah F. Elias"

Akademický článek

Ensuring equity: Pharmacogenetic implementation in rural and tribal communities

Autor: Tianna M. Leitch, Shayna R. Killam, Karen E. Brown, Kirk C. Katseanes, Kathleen M. George, Corbin Schwanke, Joshua Loveland, Abdallah F. Elias, Kerry Haney, Kate Krebsbach, LeeAnna I. Muzquiz, Susan B. Trinidad, Erica L. Woodahl

Publikováno v: Frontiers in Pharmacology, Vol 13 (2022)

Implementation strategies for pharmacogenetic testing have been largely limited to major academic medical centers and large health systems, threatening to exacerbate healthcare disparities for rural and tribal populations. There exists a need in Mont

Externí odkaz: https://doaj.org/article/f7e7bd2a6b744dcab588903de64eafd1

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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2020, 43 (5), pp.1024-1036. ⟨10.1002/jimd.12232⟩

International audience; Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (geneSQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17685134fb2de24c6c211fbf607675ff
https://hal.inrae.fr/hal-03209219

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N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

Autor: Thorsten Marquardt, Saskia Biskup, Corbin Schwanke, Janine Reunert, Jaclyn Haven, Richard D. Cummings, Julien H Park, Jonathan Schoof, Susanne Hoffmann, Abdallah F Elias, Marianne Grüneberg, Manfred Fobker, Robert G. Mealer, Stephan Rust, Jordan W. Smoller, Ute Mangels

Publikováno v: J Inherit Metab Dis

PURPOSE: Congenital disorders of glycosylation (CDG) are a growing group of inborn metabolic disorders with multiorgan presentation. SLC39A8-CDG is a severe subtype caused by biallelic mutations in the manganese transporter SLC39A8, reducing levels o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e76624a40601ad5abd23bd262d82e91
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175818

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

Autor: Abdallah F. Elias, Corbin Schwanke, Amy Crunk, John P. Johnson, Linda S. Beischel, Katie Styren, Jonathan Schoof

Publikováno v: Journal of Assisted Reproduction and Genetics. 35:985-992

OBJECTIVES: In vitro fertilization (IVF) has been linked to an increased risk for imprinting disorders in offspring. The data so far have predominantly been retrospective, comparing the rate of IVF conceptions in affected patients with controls. We d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b457b2c0dcbd77d677f44c4c33a0f9
https://doi.org/10.1007/s10815-018-1228-z

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Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction

Autor: Fernando Kok, Leslie E. W. LaConte, Vrushali Chavan, Cynthia Hudson, Sarika Srivastava, Katie Styren, Abdallah F. Elias, Konark Mukherjee, Jonathan Shoof, Corbin Schwanke

Publikováno v: Human Genetics. 137:231-246

Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be du

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d37e2b4c510e59b613c5e0f5d139ef
https://doi.org/10.1007/s00439-018-1874-3

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SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals

Autor: Jesse M. Hunter, Mary S. Willis, Bryce A. Mendelsohn, Sha Tang, Carlos A. Bacino, Eric Vilain, Hane Lee, Jill A. Rosenfeld, Delphine Héron, Tyler Mark Pierson, Zöe Powis, Shenela Lakhani, Naghmeh Dorrani, Lorenzo D. Botto, Maria J. Guillen Sacoto, Jaclyn Haven, Julie S. Cohen, Trine Bjørg Hammer, Bobby G. Ng, Charles Marques Lourenço, Rita Barone, Jennifer Burton, Ingrid E. Scheffer, Wendy G. Mitchell, Pasquale Striano, Stephanie Grunewald, Stanley F. Nelson, Nicola Longo, Jane Juusola, Fernando Scaglia, Christopher C.Y. Mak, Hudson H. Freeze, Shoji Yano, Leon G. Epstein, Arthur Partikian, Domenico Garozzo, Mohammed Almannai, Joy Lee, Hui Yang, Dianalee McKnight, Abdallah F. Elias, William A. Gahl, Nilika S. Singhal, Christina G.S. Palmer, Devorah Segal, Andrew C. Edmondson, George E. Hoganson, Cyril Mignot, Brian H.Y. Chung, Colleen M. Carlston, Mahim Jain, M. Elizabeth Ross, Paulina Sosicka, David Coman, Sharon F. Suchy, Shane C. Quinonez, Ghayda M. Mirzaa, Katrina M. Dipple, Satish Agadi, Joseph D. Symonds, Lynne A. Wolfe, Marc C. Patterson, Brigid M. Regan, Luisa Sturiale, Mariusz Olczak, Hiltrud Muhle, Katherine Lewis, William B. Dobyns, Matthew R. Herzog

Publikováno v: Hum Mutat
Human mutation 40 (2019): 908–925. doi:10.1002/humu.23731
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human mutation, vol 40, iss 7

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-conge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2458f68aa4fcb5c281dc0138ea0bd4
https://europepmc.org/articles/PMC6661012/

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The shodair medical genetics department-recent past and future developments

Autor: Abdallah F. Elias

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:381-386

Philip Pallister and John Opitz laid the ground work for a unique genetic service model in Montana that continues to flourish through ongoing support by the Montana Legislature, the Montana Department of Public Health and Human Services and the Shoda

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::612c46496c3f14d8cb16236f2f281ec6
https://doi.org/10.1002/ajmg.c.31417

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